Incidental Mutation 'R7575:Ncor1'
| ID |
586352 |
| 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 |
045632-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7575 (G1)
|
| Quality Score |
215.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
62207132-62348200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62274082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 186
(V186A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125317
(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 benign
Transcript: ENSMUST00000018645
AA Change: V586A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000018645
Gene: ENSMUSG00000018501
AA Change: V586A
| 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 benign
Transcript: ENSMUST00000101066
AA Change: V586A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000098627
Gene: ENSMUSG00000018501
AA Change: V586A
| 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 benign
Transcript: ENSMUST00000101067
AA Change: V586A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000098628
Gene: ENSMUSG00000018501
AA Change: V586A
| 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 |
probably benign
Transcript: ENSMUST00000127471
AA Change: V587A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000121806
Gene: ENSMUSG00000018501
AA Change: V587A
| 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 |
probably benign
Transcript: ENSMUST00000151498
AA Change: V186A
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125317
Gene: ENSMUSG00000018501
AA Change: V186A
| 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161288
|
| SMART Domains |
Protein: ENSMUSP00000124045
Gene: ENSMUSG00000018501
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124120
Gene: ENSMUSG00000018501
AA Change: V82A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124698
Gene: ENSMUSG00000018501
AA Change: V33A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
T |
14: 32,384,589 (GRCm39) |
V459I |
probably benign |
Het |
| 4921539E11Rik |
T |
C |
4: 103,088,192 (GRCm39) |
D439G |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,115,873 (GRCm39) |
N607S |
possibly damaging |
Het |
| Adamtsl3 |
A |
T |
7: 82,223,756 (GRCm39) |
N1179I |
possibly damaging |
Het |
| Adarb1 |
A |
G |
10: 77,139,129 (GRCm39) |
F552S |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,347,701 (GRCm39) |
E394G |
probably benign |
Het |
| Alb |
G |
A |
5: 90,613,788 (GRCm39) |
C224Y |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,141 (GRCm39) |
H1322Q |
possibly damaging |
Het |
| Arhgef18 |
T |
G |
8: 3,501,635 (GRCm39) |
V643G |
probably damaging |
Het |
| Asah2 |
T |
C |
19: 31,994,103 (GRCm39) |
Q414R |
probably benign |
Het |
| Atpsckmt |
C |
T |
15: 31,606,186 (GRCm39) |
A48V |
probably damaging |
Het |
| Bbc3 |
G |
A |
7: 16,046,292 (GRCm39) |
R76H |
possibly damaging |
Het |
| Bub1b |
T |
A |
2: 118,471,639 (GRCm39) |
S1000T |
possibly damaging |
Het |
| Bud23 |
A |
T |
5: 135,089,982 (GRCm39) |
Y70* |
probably null |
Het |
| C1d |
A |
G |
11: 17,212,694 (GRCm39) |
E13G |
probably damaging |
Het |
| Camk1 |
T |
A |
6: 113,315,325 (GRCm39) |
I158F |
probably damaging |
Het |
| Ccr2 |
A |
C |
9: 123,905,843 (GRCm39) |
D41A |
probably benign |
Het |
| Cdh18 |
G |
T |
15: 23,400,683 (GRCm39) |
E348* |
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,738,321 (GRCm39) |
L1066P |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,711,162 (GRCm39) |
D172V |
probably benign |
Het |
| Cyp2j8 |
A |
G |
4: 96,358,785 (GRCm39) |
I378T |
possibly damaging |
Het |
| Cys1 |
T |
A |
12: 24,718,647 (GRCm39) |
K69* |
probably null |
Het |
| Dip2c |
A |
G |
13: 9,678,048 (GRCm39) |
K1165E |
probably damaging |
Het |
| Drd3 |
A |
T |
16: 43,637,496 (GRCm39) |
I232F |
probably benign |
Het |
| Dusp7 |
T |
C |
9: 106,250,876 (GRCm39) |
C334R |
probably damaging |
Het |
| Eppk1 |
A |
G |
15: 75,995,442 (GRCm39) |
S480P |
not run |
Het |
| Erc1 |
G |
T |
6: 119,801,721 (GRCm39) |
P99T |
possibly damaging |
Het |
| Fam170b |
C |
T |
14: 32,558,155 (GRCm39) |
P330L |
unknown |
Het |
| Fasn |
G |
T |
11: 120,703,513 (GRCm39) |
T1573K |
possibly damaging |
Het |
| Fras1 |
A |
T |
5: 96,691,173 (GRCm39) |
T130S |
probably benign |
Het |
| Fzd4 |
A |
G |
7: 89,056,918 (GRCm39) |
I322V |
possibly damaging |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gdpd4 |
A |
T |
7: 97,647,448 (GRCm39) |
H365L |
probably benign |
Het |
| Gfy |
A |
G |
7: 44,827,524 (GRCm39) |
S191P |
probably benign |
Het |
| Ghr |
A |
T |
15: 3,349,994 (GRCm39) |
S395T |
probably damaging |
Het |
| Git2 |
C |
T |
5: 114,904,550 (GRCm39) |
R123H |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,062,987 (GRCm39) |
D2873G |
probably damaging |
Het |
| Idua |
A |
T |
5: 108,829,565 (GRCm39) |
D476V |
probably damaging |
Het |
| Inppl1 |
G |
A |
7: 101,477,689 (GRCm39) |
R683W |
probably damaging |
Het |
| Ipp |
T |
C |
4: 116,389,841 (GRCm39) |
S466P |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,798,131 (GRCm39) |
V1058A |
probably damaging |
Het |
| Jmy |
A |
T |
13: 93,601,103 (GRCm39) |
Y434* |
probably null |
Het |
| Kmt2d |
CTGCTGCTG |
CTGCTGCTGATGCTGCTG |
15: 98,747,492 (GRCm39) |
|
probably benign |
Het |
| Mogs |
T |
G |
6: 83,092,816 (GRCm39) |
S85R |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,964,087 (GRCm39) |
D863V |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,213 (GRCm39) |
I43F |
probably damaging |
Het |
| Mtr |
T |
C |
13: 12,213,963 (GRCm39) |
D903G |
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,373,793 (GRCm39) |
D472N |
possibly damaging |
Het |
| Or4k44 |
A |
T |
2: 111,368,597 (GRCm39) |
F12L |
probably damaging |
Het |
| Or6c68 |
T |
C |
10: 129,157,728 (GRCm39) |
F79L |
probably damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,582 (GRCm39) |
F146S |
probably benign |
Het |
| Or9i1 |
T |
C |
19: 13,839,381 (GRCm39) |
S75P |
probably damaging |
Het |
| Oxr1 |
T |
G |
15: 41,686,758 (GRCm39) |
L547V |
possibly damaging |
Het |
| Pappa2 |
A |
T |
1: 158,642,100 (GRCm39) |
C1319S |
probably damaging |
Het |
| Papss1 |
A |
C |
3: 131,348,857 (GRCm39) |
K623N |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,875,375 (GRCm39) |
F1198S |
probably benign |
Het |
| Pcare |
T |
A |
17: 72,057,850 (GRCm39) |
Q609L |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,225,086 (GRCm39) |
V1806D |
probably benign |
Het |
| Pitx2 |
A |
T |
3: 129,009,375 (GRCm39) |
H98L |
probably damaging |
Het |
| Polq |
C |
A |
16: 36,911,496 (GRCm39) |
D2410E |
probably benign |
Het |
| Prdm9 |
C |
T |
17: 15,764,890 (GRCm39) |
C630Y |
probably damaging |
Het |
| Preb |
A |
T |
5: 31,115,839 (GRCm39) |
D201E |
probably damaging |
Het |
| Rasa3 |
A |
T |
8: 13,645,887 (GRCm39) |
I151N |
possibly damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,454,397 (GRCm39) |
S147T |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,697,441 (GRCm39) |
D646G |
possibly damaging |
Het |
| Sdc1 |
A |
G |
12: 8,840,619 (GRCm39) |
E128G |
probably damaging |
Het |
| Slamf7 |
A |
C |
1: 171,466,762 (GRCm39) |
C148G |
probably damaging |
Het |
| Slc19a2 |
T |
C |
1: 164,084,691 (GRCm39) |
S194P |
probably damaging |
Het |
| Spata31 |
C |
T |
13: 65,070,726 (GRCm39) |
P958L |
unknown |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Stradb |
A |
G |
1: 59,027,739 (GRCm39) |
I90V |
probably benign |
Het |
| Tas2r134 |
A |
G |
2: 51,518,166 (GRCm39) |
D215G |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,685,025 (GRCm39) |
K1209E |
probably damaging |
Het |
| Thbs1 |
A |
G |
2: 117,953,409 (GRCm39) |
D942G |
probably damaging |
Het |
| Tmem107 |
C |
T |
11: 68,963,633 (GRCm39) |
P139S |
probably benign |
Het |
| Tmem216 |
A |
T |
19: 10,529,266 (GRCm39) |
M40K |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,845,498 (GRCm39) |
Y516C |
probably damaging |
Het |
| Trim54 |
G |
A |
5: 31,291,431 (GRCm39) |
G184D |
possibly damaging |
Het |
| Try5 |
A |
T |
6: 41,288,748 (GRCm39) |
L157Q |
probably benign |
Het |
| Ubqlnl |
G |
A |
7: 103,797,697 (GRCm39) |
A600V |
probably damaging |
Het |
| Uhrf2 |
C |
A |
19: 30,048,768 (GRCm39) |
P258Q |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,554,885 (GRCm39) |
E3554D |
possibly damaging |
Het |
| Usp40 |
A |
C |
1: 87,877,682 (GRCm39) |
L1158W |
probably damaging |
Het |
| Vmn1r121 |
T |
A |
7: 20,832,198 (GRCm39) |
R81* |
probably null |
Het |
| Vmn1r203 |
C |
A |
13: 22,708,588 (GRCm39) |
T123K |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,831,654 (GRCm39) |
V550A |
probably benign |
Het |
| Wdr49 |
A |
T |
3: 75,358,193 (GRCm39) |
M184K |
probably damaging |
Het |
| Wipi2 |
A |
G |
5: 142,643,987 (GRCm39) |
N123S |
probably damaging |
Het |
| Zbtb14 |
T |
C |
17: 69,694,442 (GRCm39) |
F47L |
probably damaging |
Het |
| Zc3h7b |
C |
A |
15: 81,662,086 (GRCm39) |
S385* |
probably null |
Het |
| Zhx2 |
T |
A |
15: 57,686,658 (GRCm39) |
F676I |
probably 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 |
|
R1864:Ncor1
|
UTSW |
11 |
62,272,245 (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 |
|
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'- TGTACCTGCACTCACCAGAC -3'
(R):5'- GCATGTCTTGAATCTCTCAAAGC -3'
Sequencing Primer
(F):5'- GTGGCGAACACCTTTAATCC -3'
(R):5'- TCTCACATGATAAAGTTCTCA -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation