Incidental Mutation 'R1864:Ncor1'
| ID |
208529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncor1
|
| Ensembl Gene |
ENSMUSG00000018501 |
| Gene Name |
nuclear receptor co-repressor 1 |
| Synonyms |
Rxrip13, 5730405M06Rik, A230020K14Rik, N-CoR |
| MMRRC Submission |
039887-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
62207132-62348200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62272245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 635
(V635A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018645]
[ENSMUST00000101066]
[ENSMUST00000101067]
[ENSMUST00000127471]
[ENSMUST00000151498]
[ENSMUST00000155486]
[ENSMUST00000155712]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018645
AA Change: V635A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018645
Gene: ENSMUSG00000018501
AA Change: V635A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
74 |
N/A |
INTRINSIC |
|
Pfam:GPS2_interact
|
150 |
239 |
1.4e-37 |
PFAM |
|
coiled coil region
|
302 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
SANT
|
437 |
485 |
2.76e-7 |
SMART |
|
coiled coil region
|
507 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
617 |
N/A |
INTRINSIC |
|
SANT
|
624 |
672 |
3.29e-14 |
SMART |
|
low complexity region
|
710 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
899 |
N/A |
INTRINSIC |
|
low complexity region
|
987 |
995 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1049 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1061 |
1298 |
1.62e-6 |
PROSPERO |
|
internal_repeat_2
|
1299 |
1515 |
1.62e-6 |
PROSPERO |
|
low complexity region
|
1516 |
1527 |
N/A |
INTRINSIC |
|
coiled coil region
|
1712 |
1749 |
N/A |
INTRINSIC |
|
low complexity region
|
1834 |
1848 |
N/A |
INTRINSIC |
|
low complexity region
|
1969 |
1980 |
N/A |
INTRINSIC |
|
low complexity region
|
2036 |
2055 |
N/A |
INTRINSIC |
|
PDB:3N00|B
|
2064 |
2084 |
4e-7 |
PDB |
|
low complexity region
|
2086 |
2101 |
N/A |
INTRINSIC |
|
low complexity region
|
2157 |
2168 |
N/A |
INTRINSIC |
|
PDB:2OVM|B
|
2267 |
2290 |
2e-8 |
PDB |
|
low complexity region
|
2311 |
2324 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101066
AA Change: V635A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098627
Gene: ENSMUSG00000018501
AA Change: V635A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
74 |
N/A |
INTRINSIC |
|
coiled coil region
|
176 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
SANT
|
437 |
485 |
2.76e-7 |
SMART |
|
coiled coil region
|
507 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
617 |
N/A |
INTRINSIC |
|
SANT
|
624 |
672 |
3.29e-14 |
SMART |
|
low complexity region
|
710 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
899 |
N/A |
INTRINSIC |
|
low complexity region
|
987 |
995 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1049 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1061 |
1298 |
1.62e-6 |
PROSPERO |
|
internal_repeat_2
|
1299 |
1515 |
1.62e-6 |
PROSPERO |
|
low complexity region
|
1516 |
1527 |
N/A |
INTRINSIC |
|
coiled coil region
|
1712 |
1749 |
N/A |
INTRINSIC |
|
low complexity region
|
1834 |
1848 |
N/A |
INTRINSIC |
|
low complexity region
|
1969 |
1980 |
N/A |
INTRINSIC |
|
low complexity region
|
2036 |
2055 |
N/A |
INTRINSIC |
|
PDB:3N00|B
|
2064 |
2084 |
4e-7 |
PDB |
|
low complexity region
|
2086 |
2101 |
N/A |
INTRINSIC |
|
low complexity region
|
2157 |
2168 |
N/A |
INTRINSIC |
|
PDB:2OVM|B
|
2267 |
2290 |
2e-8 |
PDB |
|
low complexity region
|
2311 |
2324 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101067
AA Change: V635A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098628
Gene: ENSMUSG00000018501
AA Change: V635A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
74 |
N/A |
INTRINSIC |
|
coiled coil region
|
176 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
SANT
|
437 |
485 |
2.76e-7 |
SMART |
|
coiled coil region
|
507 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
617 |
N/A |
INTRINSIC |
|
SANT
|
624 |
672 |
3.29e-14 |
SMART |
|
low complexity region
|
716 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
838 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
937 |
945 |
N/A |
INTRINSIC |
|
low complexity region
|
952 |
963 |
N/A |
INTRINSIC |
|
low complexity region
|
986 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1448 |
1459 |
N/A |
INTRINSIC |
|
coiled coil region
|
1645 |
1682 |
N/A |
INTRINSIC |
|
low complexity region
|
1767 |
1781 |
N/A |
INTRINSIC |
|
low complexity region
|
1902 |
1913 |
N/A |
INTRINSIC |
|
low complexity region
|
1969 |
1988 |
N/A |
INTRINSIC |
|
PDB:3N00|B
|
1997 |
2017 |
4e-7 |
PDB |
|
low complexity region
|
2019 |
2034 |
N/A |
INTRINSIC |
|
low complexity region
|
2089 |
2100 |
N/A |
INTRINSIC |
|
PDB:2OVM|B
|
2199 |
2222 |
2e-8 |
PDB |
|
low complexity region
|
2243 |
2256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101068
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127471
AA Change: V636A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121806
Gene: ENSMUSG00000018501
AA Change: V636A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
74 |
N/A |
INTRINSIC |
|
coiled coil region
|
176 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
SANT
|
437 |
485 |
2.76e-7 |
SMART |
|
coiled coil region
|
508 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
618 |
N/A |
INTRINSIC |
|
SANT
|
625 |
673 |
3.29e-14 |
SMART |
|
low complexity region
|
711 |
732 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
773 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151498
AA Change: V235A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125317
Gene: ENSMUSG00000018501
AA Change: V235A
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
37 |
85 |
2.76e-7 |
SMART |
|
coiled coil region
|
107 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
217 |
N/A |
INTRINSIC |
|
SANT
|
224 |
272 |
3.29e-14 |
SMART |
|
low complexity region
|
316 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
585 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
697 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
700 |
830 |
5.77e-7 |
PROSPERO |
|
internal_repeat_2
|
855 |
961 |
5.77e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155486
|
| SMART Domains |
Protein: ENSMUSP00000122647
Gene: ENSMUSG00000018501
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
74 |
N/A |
INTRINSIC |
|
coiled coil region
|
176 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
311 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
375 |
N/A |
INTRINSIC |
|
SANT
|
446 |
494 |
2.76e-7 |
SMART |
|
coiled coil region
|
516 |
541 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161288
AA Change: V32A
|
| SMART Domains |
Protein: ENSMUSP00000124045
Gene: ENSMUSG00000018501
AA Change: V32A
| Domain | Start | End | E-Value | Type |
|---|
|
SANT
|
22 |
70 |
3.29e-14 |
SMART |
|
low complexity region
|
114 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162236
AA Change: V82A
|
| SMART Domains |
Protein: ENSMUSP00000124698
Gene: ENSMUSG00000018501
AA Change: V82A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
65 |
N/A |
INTRINSIC |
|
SANT
|
72 |
120 |
3.29e-14 |
SMART |
|
low complexity region
|
164 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
242 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161699
AA Change: V131A
|
| SMART Domains |
Protein: ENSMUSP00000124120
Gene: ENSMUSG00000018501
AA Change: V131A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
114 |
N/A |
INTRINSIC |
|
SANT
|
121 |
169 |
3.29e-14 |
SMART |
|
low complexity region
|
207 |
225 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162077
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155712
|
| SMART Domains |
Protein: ENSMUSP00000122654
Gene: ENSMUSG00000018501
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
796 |
N/A |
INTRINSIC |
|
coiled coil region
|
982 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1104 |
1118 |
N/A |
INTRINSIC |
|
low complexity region
|
1239 |
1250 |
N/A |
INTRINSIC |
|
low complexity region
|
1306 |
1325 |
N/A |
INTRINSIC |
|
PDB:3N00|B
|
1334 |
1354 |
3e-7 |
PDB |
|
low complexity region
|
1356 |
1371 |
N/A |
INTRINSIC |
|
low complexity region
|
1427 |
1438 |
N/A |
INTRINSIC |
|
PDB:2OVM|B
|
1537 |
1560 |
2e-8 |
PDB |
|
low complexity region
|
1581 |
1594 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
G |
A |
X: 159,265,347 (GRCm39) |
M532I |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,598,016 (GRCm39) |
Y1198H |
possibly damaging |
Het |
| Ahcyl2 |
G |
A |
6: 29,908,354 (GRCm39) |
V575M |
probably damaging |
Het |
| Akp3 |
TCACCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCACCAC |
1: 87,055,489 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,508,610 (GRCm39) |
N329K |
probably benign |
Het |
| Ano4 |
C |
A |
10: 88,807,253 (GRCm39) |
G741V |
probably damaging |
Het |
| Anxa1 |
T |
C |
19: 20,357,053 (GRCm39) |
D191G |
probably benign |
Het |
| Apc2 |
C |
T |
10: 80,149,482 (GRCm39) |
T1512I |
probably damaging |
Het |
| Aph1b |
A |
T |
9: 66,701,395 (GRCm39) |
C81S |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,866,015 (GRCm39) |
E893G |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,130,640 (GRCm39) |
H399Q |
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,919,294 (GRCm39) |
E304G |
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 140,650,446 (GRCm39) |
Y771C |
probably damaging |
Het |
| Birc2 |
G |
T |
9: 7,819,518 (GRCm39) |
Q465K |
probably benign |
Het |
| Btla |
C |
T |
16: 45,070,737 (GRCm39) |
T232I |
probably damaging |
Het |
| Ccl7 |
G |
T |
11: 81,937,378 (GRCm39) |
K37N |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,061,967 (GRCm39) |
V233A |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,329,018 (GRCm39) |
C66R |
probably damaging |
Het |
| Cilp2 |
C |
A |
8: 70,333,973 (GRCm39) |
Q1008H |
probably damaging |
Het |
| Clcn1 |
T |
A |
6: 42,282,475 (GRCm39) |
D442E |
probably damaging |
Het |
| Clcnka |
T |
C |
4: 141,120,113 (GRCm39) |
T269A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,534,385 (GRCm39) |
|
probably null |
Het |
| Cts6 |
A |
G |
13: 61,349,393 (GRCm39) |
I105T |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,931,739 (GRCm39) |
D123G |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,045,105 (GRCm39) |
L808Q |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,496,215 (GRCm39) |
I270N |
probably damaging |
Het |
| Dhx15 |
T |
C |
5: 52,342,043 (GRCm39) |
T92A |
possibly damaging |
Het |
| Dhx32 |
A |
T |
7: 133,339,025 (GRCm39) |
C197S |
probably benign |
Het |
| Diaph2 |
G |
A |
X: 128,860,876 (GRCm39) |
R473Q |
probably damaging |
Het |
| Dnd1 |
A |
G |
18: 36,899,057 (GRCm39) |
C11R |
possibly damaging |
Het |
| Dock1 |
A |
C |
7: 134,748,236 (GRCm39) |
D1566A |
probably benign |
Het |
| Drp2 |
A |
G |
X: 133,327,864 (GRCm39) |
I43V |
probably benign |
Het |
| Ecm2 |
T |
C |
13: 49,683,621 (GRCm39) |
V533A |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,849,942 (GRCm39) |
H427L |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,934 (GRCm39) |
E725G |
probably damaging |
Het |
| Eml2 |
A |
G |
7: 18,935,803 (GRCm39) |
Y487C |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,018,246 (GRCm39) |
L919H |
probably damaging |
Het |
| Fam187a |
T |
A |
11: 102,776,837 (GRCm39) |
S214T |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,283,869 (GRCm39) |
T521A |
probably benign |
Het |
| Foxi1 |
T |
A |
11: 34,157,531 (GRCm39) |
I165F |
probably damaging |
Het |
| Fxr2 |
A |
T |
11: 69,543,103 (GRCm39) |
K633N |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,098,206 (GRCm39) |
I209T |
probably benign |
Het |
| Gmpr |
G |
T |
13: 45,696,101 (GRCm39) |
V278F |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,057,384 (GRCm39) |
D328V |
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,660,056 (GRCm39) |
S534P |
probably damaging |
Het |
| Heph |
A |
G |
X: 95,573,092 (GRCm39) |
T792A |
probably damaging |
Het |
| Hipk2 |
T |
A |
6: 38,695,870 (GRCm39) |
|
probably null |
Het |
| Hps3 |
T |
A |
3: 20,074,123 (GRCm39) |
|
probably null |
Het |
| Hspa5 |
T |
C |
2: 34,664,553 (GRCm39) |
F336L |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,441,413 (GRCm39) |
I409T |
probably benign |
Het |
| Kcnj8 |
T |
A |
6: 142,515,966 (GRCm39) |
H47L |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,853,230 (GRCm39) |
Q108L |
probably damaging |
Het |
| Klc3 |
A |
G |
7: 19,131,966 (GRCm39) |
V137A |
probably damaging |
Het |
| Lcn2 |
T |
C |
2: 32,275,434 (GRCm39) |
T194A |
possibly damaging |
Het |
| Lgr4 |
T |
A |
2: 109,841,742 (GRCm39) |
F576I |
possibly damaging |
Het |
| Lypd6b |
A |
G |
2: 49,837,459 (GRCm39) |
I144V |
possibly damaging |
Het |
| Mctp1 |
G |
A |
13: 76,533,267 (GRCm39) |
C205Y |
possibly damaging |
Het |
| Mitf |
A |
T |
6: 97,987,383 (GRCm39) |
N159I |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,412,893 (GRCm39) |
I678T |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,576,625 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,701,463 (GRCm39) |
Y2115C |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,975,153 (GRCm39) |
I182V |
probably benign |
Het |
| Neb |
G |
T |
2: 52,102,772 (GRCm39) |
Y4257* |
probably null |
Het |
| Npr2 |
T |
A |
4: 43,641,258 (GRCm39) |
V428E |
probably benign |
Het |
| Nufip2 |
A |
G |
11: 77,583,124 (GRCm39) |
D346G |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,469,753 (GRCm39) |
S1088F |
probably benign |
Het |
| Or10s1 |
T |
G |
9: 39,986,081 (GRCm39) |
I163M |
possibly damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,313,030 (GRCm39) |
N286S |
possibly damaging |
Het |
| Or4c127 |
T |
A |
2: 89,832,825 (GRCm39) |
V25E |
probably benign |
Het |
| Or4k38 |
C |
T |
2: 111,166,052 (GRCm39) |
V124M |
possibly damaging |
Het |
| Or5ac22 |
A |
G |
16: 59,135,378 (GRCm39) |
Y131H |
probably damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,560 (GRCm39) |
Y149N |
probably damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,204,789 (GRCm39) |
V550I |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,185,389 (GRCm39) |
L237* |
probably null |
Het |
| Pla2r1 |
G |
A |
2: 60,259,055 (GRCm39) |
T1111M |
probably benign |
Het |
| Plxnd1 |
A |
T |
6: 115,946,402 (GRCm39) |
|
probably null |
Het |
| Pnp |
G |
C |
14: 51,185,430 (GRCm39) |
A67P |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,404 (GRCm39) |
S837T |
probably damaging |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,381,707 (GRCm39) |
D203G |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,635,153 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
C |
A |
4: 43,421,719 (GRCm39) |
A713D |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,560,673 (GRCm39) |
H3009Q |
possibly damaging |
Het |
| Serpina1d |
C |
A |
12: 103,734,256 (GRCm39) |
C16F |
probably benign |
Het |
| Serpinf2 |
G |
T |
11: 75,328,309 (GRCm39) |
R80S |
possibly damaging |
Het |
| Sh2d4a |
C |
A |
8: 68,781,967 (GRCm39) |
Q192K |
probably benign |
Het |
| Sh3d21 |
T |
A |
4: 126,044,729 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,046 (GRCm39) |
L55Q |
probably damaging |
Het |
| Shc4 |
T |
C |
2: 125,481,287 (GRCm39) |
D255G |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,483,106 (GRCm39) |
H170Q |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,703,509 (GRCm39) |
Y261C |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,964,071 (GRCm39) |
N102K |
possibly damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,533,152 (GRCm39) |
I307K |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,773,828 (GRCm39) |
S548T |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,780,694 (GRCm39) |
S524P |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,905,699 (GRCm39) |
D152G |
probably damaging |
Het |
| Tmem213 |
A |
G |
6: 38,086,487 (GRCm39) |
T48A |
possibly damaging |
Het |
| Tmem37 |
A |
G |
1: 119,995,952 (GRCm39) |
S42P |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,917,764 (GRCm39) |
K1258R |
probably damaging |
Het |
| Ttc22 |
T |
C |
4: 106,494,003 (GRCm39) |
V321A |
probably benign |
Het |
| Ube2c |
C |
A |
2: 164,611,943 (GRCm39) |
A15E |
probably benign |
Het |
| Ubn2 |
T |
A |
6: 38,417,425 (GRCm39) |
D154E |
possibly damaging |
Het |
| Umod |
A |
T |
7: 119,062,478 (GRCm39) |
L631M |
probably damaging |
Het |
| Ush1c |
G |
A |
7: 45,868,816 (GRCm39) |
Q373* |
probably null |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,040 (GRCm39) |
R125* |
probably null |
Het |
| Wnt8b |
T |
C |
19: 44,482,029 (GRCm39) |
L14P |
probably benign |
Het |
| Wrn |
G |
A |
8: 33,778,892 (GRCm39) |
A563V |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,348,998 (GRCm39) |
Q145L |
possibly damaging |
Het |
| Zfp608 |
A |
G |
18: 55,030,983 (GRCm39) |
S986P |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,233,373 (GRCm39) |
H228R |
possibly damaging |
Het |
|
| Other mutations in Ncor1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Ncor1
|
APN |
11 |
62,283,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01343:Ncor1
|
APN |
11 |
62,216,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01392:Ncor1
|
APN |
11 |
62,231,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01402:Ncor1
|
APN |
11 |
62,231,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01714:Ncor1
|
APN |
11 |
62,225,410 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01772:Ncor1
|
APN |
11 |
62,240,173 (GRCm39) |
intron |
probably benign |
|
|
IGL01889:Ncor1
|
APN |
11 |
62,225,427 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02058:Ncor1
|
APN |
11 |
62,235,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Ncor1
|
APN |
11 |
62,310,435 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02073:Ncor1
|
APN |
11 |
62,249,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02176:Ncor1
|
APN |
11 |
62,220,485 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02288:Ncor1
|
APN |
11 |
62,240,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02348:Ncor1
|
APN |
11 |
62,224,485 (GRCm39) |
splice site |
probably benign |
|
|
IGL02608:Ncor1
|
APN |
11 |
62,264,040 (GRCm39) |
missense |
probably benign |
0.07 |
|
laggard
|
UTSW |
11 |
62,260,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Shortstep
|
UTSW |
11 |
62,225,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Ncor1
|
UTSW |
11 |
62,419,782 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
PIT4382001:Ncor1
|
UTSW |
11 |
62,235,489 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4576001:Ncor1
|
UTSW |
11 |
62,224,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0026:Ncor1
|
UTSW |
11 |
62,329,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Ncor1
|
UTSW |
11 |
62,283,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0038:Ncor1
|
UTSW |
11 |
62,283,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0103:Ncor1
|
UTSW |
11 |
62,233,871 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0103:Ncor1
|
UTSW |
11 |
62,233,871 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0144:Ncor1
|
UTSW |
11 |
62,283,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Ncor1
|
UTSW |
11 |
62,301,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0501:Ncor1
|
UTSW |
11 |
62,264,148 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0544:Ncor1
|
UTSW |
11 |
62,224,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Ncor1
|
UTSW |
11 |
62,224,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0563:Ncor1
|
UTSW |
11 |
62,234,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1074:Ncor1
|
UTSW |
11 |
62,283,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1266:Ncor1
|
UTSW |
11 |
62,224,866 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1444:Ncor1
|
UTSW |
11 |
62,294,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Ncor1
|
UTSW |
11 |
62,225,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1534:Ncor1
|
UTSW |
11 |
62,269,330 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1710:Ncor1
|
UTSW |
11 |
62,313,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Ncor1
|
UTSW |
11 |
62,275,610 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1771:Ncor1
|
UTSW |
11 |
62,217,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Ncor1
|
UTSW |
11 |
62,228,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Ncor1
|
UTSW |
11 |
62,240,211 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2009:Ncor1
|
UTSW |
11 |
62,216,427 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3708:Ncor1
|
UTSW |
11 |
62,235,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Ncor1
|
UTSW |
11 |
62,264,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3923:Ncor1
|
UTSW |
11 |
62,216,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3966:Ncor1
|
UTSW |
11 |
62,235,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4049:Ncor1
|
UTSW |
11 |
62,220,494 (GRCm39) |
splice site |
probably null |
|
|
R4350:Ncor1
|
UTSW |
11 |
62,301,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4351:Ncor1
|
UTSW |
11 |
62,301,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4359:Ncor1
|
UTSW |
11 |
62,249,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4712:Ncor1
|
UTSW |
11 |
62,235,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4723:Ncor1
|
UTSW |
11 |
62,269,438 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4863:Ncor1
|
UTSW |
11 |
62,283,464 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4875:Ncor1
|
UTSW |
11 |
62,324,437 (GRCm39) |
small deletion |
probably benign |
|
|
R4956:Ncor1
|
UTSW |
11 |
62,231,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Ncor1
|
UTSW |
11 |
62,234,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5079:Ncor1
|
UTSW |
11 |
62,236,063 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5144:Ncor1
|
UTSW |
11 |
62,240,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Ncor1
|
UTSW |
11 |
62,229,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5243:Ncor1
|
UTSW |
11 |
62,229,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5271:Ncor1
|
UTSW |
11 |
62,231,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Ncor1
|
UTSW |
11 |
62,283,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Ncor1
|
UTSW |
11 |
62,233,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5580:Ncor1
|
UTSW |
11 |
62,280,604 (GRCm39) |
nonsense |
probably null |
|
|
R5593:Ncor1
|
UTSW |
11 |
62,260,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5609:Ncor1
|
UTSW |
11 |
62,249,679 (GRCm39) |
splice site |
probably null |
|
|
R5632:Ncor1
|
UTSW |
11 |
62,229,060 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5830:Ncor1
|
UTSW |
11 |
62,235,589 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5896:Ncor1
|
UTSW |
11 |
62,274,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Ncor1
|
UTSW |
11 |
62,240,136 (GRCm39) |
splice site |
probably null |
|
|
R6013:Ncor1
|
UTSW |
11 |
62,211,903 (GRCm39) |
missense |
probably benign |
|
|
R6019:Ncor1
|
UTSW |
11 |
62,263,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6032:Ncor1
|
UTSW |
11 |
62,264,147 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6032:Ncor1
|
UTSW |
11 |
62,264,147 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6075:Ncor1
|
UTSW |
11 |
62,208,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Ncor1
|
UTSW |
11 |
62,310,443 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6248:Ncor1
|
UTSW |
11 |
62,257,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6281:Ncor1
|
UTSW |
11 |
62,264,371 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6351:Ncor1
|
UTSW |
11 |
62,264,124 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6469:Ncor1
|
UTSW |
11 |
62,234,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Ncor1
|
UTSW |
11 |
62,272,240 (GRCm39) |
nonsense |
probably null |
|
|
R6614:Ncor1
|
UTSW |
11 |
62,221,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6650:Ncor1
|
UTSW |
11 |
62,225,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6765:Ncor1
|
UTSW |
11 |
62,264,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6852:Ncor1
|
UTSW |
11 |
62,234,071 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6909:Ncor1
|
UTSW |
11 |
62,220,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Ncor1
|
UTSW |
11 |
62,244,059 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7054:Ncor1
|
UTSW |
11 |
62,275,619 (GRCm39) |
missense |
probably null |
|
|
R7248:Ncor1
|
UTSW |
11 |
62,275,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7352:Ncor1
|
UTSW |
11 |
62,224,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7396:Ncor1
|
UTSW |
11 |
62,234,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7434:Ncor1
|
UTSW |
11 |
62,274,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7552:Ncor1
|
UTSW |
11 |
62,264,250 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7565:Ncor1
|
UTSW |
11 |
62,292,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7575:Ncor1
|
UTSW |
11 |
62,274,082 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7622:Ncor1
|
UTSW |
11 |
62,208,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7664:Ncor1
|
UTSW |
11 |
62,289,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Ncor1
|
UTSW |
11 |
62,224,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7963:Ncor1
|
UTSW |
11 |
62,225,359 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7990:Ncor1
|
UTSW |
11 |
62,240,321 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8302:Ncor1
|
UTSW |
11 |
62,224,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8334:Ncor1
|
UTSW |
11 |
62,274,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8512:Ncor1
|
UTSW |
11 |
62,324,437 (GRCm39) |
small deletion |
probably benign |
|
|
R8728:Ncor1
|
UTSW |
11 |
62,221,685 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8777:Ncor1
|
UTSW |
11 |
62,324,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777:Ncor1
|
UTSW |
11 |
62,324,492 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8777-TAIL:Ncor1
|
UTSW |
11 |
62,324,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777-TAIL:Ncor1
|
UTSW |
11 |
62,324,492 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8821:Ncor1
|
UTSW |
11 |
62,260,234 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8831:Ncor1
|
UTSW |
11 |
62,260,234 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8988:Ncor1
|
UTSW |
11 |
62,233,871 (GRCm39) |
nonsense |
probably null |
|
|
R9111:Ncor1
|
UTSW |
11 |
62,280,585 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9147:Ncor1
|
UTSW |
11 |
62,224,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9391:Ncor1
|
UTSW |
11 |
62,216,376 (GRCm39) |
nonsense |
probably null |
|
|
R9467:Ncor1
|
UTSW |
11 |
62,324,448 (GRCm39) |
small insertion |
probably benign |
|
|
R9467:Ncor1
|
UTSW |
11 |
62,324,437 (GRCm39) |
small insertion |
probably benign |
|
|
R9510:Ncor1
|
UTSW |
11 |
62,324,442 (GRCm39) |
small insertion |
probably benign |
|
|
R9511:Ncor1
|
UTSW |
11 |
62,324,449 (GRCm39) |
small insertion |
probably benign |
|
|
R9560:Ncor1
|
UTSW |
11 |
62,263,948 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9687:Ncor1
|
UTSW |
11 |
62,260,193 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0065:Ncor1
|
UTSW |
11 |
62,249,817 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0065:Ncor1
|
UTSW |
11 |
62,245,395 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Ncor1
|
UTSW |
11 |
62,329,342 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGGTATACACGTGTGTTTGAAC -3'
(R):5'- GGCTCTTCAGAAGCGGATAC -3'
Sequencing Primer
(F):5'- ATTGGAGCTACACACGCTTG -3'
(R):5'- GAAGCGGATACTAATATTATACAAG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation