Incidental Mutation 'R7552:Ncor1'
| ID |
584492 |
| 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 |
045621-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7552 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62207132-62348200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62264250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 384
(E384G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018645]
[ENSMUST00000101066]
[ENSMUST00000101067]
[ENSMUST00000127471]
[ENSMUST00000151498]
[ENSMUST00000155712]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018645
AA Change: E794G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000018645
Gene: ENSMUSG00000018501
AA Change: E794G
| 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: E794G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000098627
Gene: ENSMUSG00000018501
AA Change: E794G
| 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: E744G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000098628
Gene: ENSMUSG00000018501
AA Change: E744G
| 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: E779G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000121806
Gene: ENSMUSG00000018501
AA Change: E779G
| 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: E384G
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125317
Gene: ENSMUSG00000018501
AA Change: E384G
| 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 |
possibly damaging
Transcript: ENSMUST00000155712
AA Change: E110G
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122654
Gene: ENSMUSG00000018501
AA Change: E110G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124045
Gene: ENSMUSG00000018501
AA Change: E181G
| 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: E234G
| 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: E247G
| 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 |
100% (89/89) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17a |
A |
G |
10: 80,419,737 (GRCm39) |
Y290H |
probably benign |
Het |
| Aco2 |
T |
C |
15: 81,788,142 (GRCm39) |
V257A |
probably damaging |
Het |
| Adam26a |
C |
A |
8: 44,023,007 (GRCm39) |
C161F |
possibly damaging |
Het |
| Adam9 |
G |
A |
8: 25,445,988 (GRCm39) |
P820S |
unknown |
Het |
| Adcy4 |
G |
A |
14: 56,010,922 (GRCm39) |
T665M |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,984,188 (GRCm39) |
M1824K |
probably benign |
Het |
| Alpi |
T |
C |
1: 87,026,795 (GRCm39) |
N428D |
probably benign |
Het |
| Ano5 |
C |
T |
7: 51,196,528 (GRCm39) |
P153L |
probably benign |
Het |
| Atp1a1 |
A |
T |
3: 101,489,437 (GRCm39) |
L725* |
probably null |
Het |
| Atp8b2 |
G |
A |
3: 89,854,071 (GRCm39) |
T595I |
probably damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,220,820 (GRCm39) |
I35V |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,284,187 (GRCm39) |
T120A |
probably benign |
Het |
| Cmah |
A |
T |
13: 24,640,938 (GRCm39) |
T396S |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,205,820 (GRCm39) |
V3350I |
probably benign |
Het |
| Commd9 |
A |
C |
2: 101,731,410 (GRCm39) |
K198N |
probably damaging |
Het |
| Cxcr1 |
A |
G |
1: 74,231,773 (GRCm39) |
V83A |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,125,383 (GRCm39) |
S1544P |
probably damaging |
Het |
| Ddt |
A |
T |
10: 75,609,048 (GRCm39) |
|
probably null |
Het |
| Depdc7 |
A |
G |
2: 104,557,585 (GRCm39) |
S222P |
possibly damaging |
Het |
| Ehd2 |
A |
G |
7: 15,684,431 (GRCm39) |
I456T |
probably damaging |
Het |
| Epas1 |
A |
T |
17: 87,136,471 (GRCm39) |
M748L |
probably benign |
Het |
| Esr1 |
G |
A |
10: 4,806,903 (GRCm39) |
R273H |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,916,297 (GRCm39) |
D3444N |
probably damaging |
Het |
| Hand2 |
A |
G |
8: 57,775,272 (GRCm39) |
R111G |
probably damaging |
Het |
| Hecw1 |
A |
T |
13: 14,490,835 (GRCm39) |
V306E |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,252,089 (GRCm39) |
I312T |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,199,887 (GRCm39) |
L257* |
probably null |
Het |
| Kcnk5 |
G |
A |
14: 20,192,349 (GRCm39) |
P271S |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,044,662 (GRCm39) |
V187A |
|
Het |
| Lemd2 |
A |
T |
17: 27,412,810 (GRCm39) |
|
probably null |
Het |
| Lig3 |
T |
A |
11: 82,679,717 (GRCm39) |
D341E |
probably benign |
Het |
| Lpcat1 |
C |
T |
13: 73,643,014 (GRCm39) |
S196L |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,567,582 (GRCm39) |
D4048E |
|
Het |
| Lrrfip1 |
G |
A |
1: 91,033,005 (GRCm39) |
E158K |
probably damaging |
Het |
| Mcm5 |
T |
C |
8: 75,848,220 (GRCm39) |
S490P |
probably damaging |
Het |
| Mia3 |
A |
C |
1: 183,147,036 (GRCm39) |
Y73* |
probably null |
Het |
| Minar1 |
T |
A |
9: 89,483,888 (GRCm39) |
H503L |
probably benign |
Het |
| Msr1 |
A |
T |
8: 40,077,003 (GRCm39) |
N202K |
probably benign |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,286 (GRCm39) |
Y231* |
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,482,985 (GRCm39) |
W11R |
probably benign |
Het |
| Neb |
A |
G |
2: 52,137,202 (GRCm39) |
V254A |
|
Het |
| Nlrp9b |
T |
C |
7: 19,779,691 (GRCm39) |
S785P |
probably benign |
Het |
| Oprd1 |
T |
G |
4: 131,841,092 (GRCm39) |
I289L |
possibly damaging |
Het |
| Or4c10 |
G |
T |
2: 89,761,064 (GRCm39) |
D304Y |
probably benign |
Het |
| Or4s2 |
A |
G |
2: 88,473,752 (GRCm39) |
I214V |
probably benign |
Het |
| Or5m12 |
A |
G |
2: 85,734,447 (GRCm39) |
V317A |
probably benign |
Het |
| Or6a2 |
T |
C |
7: 106,600,534 (GRCm39) |
T178A |
probably benign |
Het |
| Or6c2 |
T |
A |
10: 129,362,429 (GRCm39) |
F111Y |
possibly damaging |
Het |
| Orc1 |
A |
G |
4: 108,445,951 (GRCm39) |
N23S |
probably benign |
Het |
| Paip1 |
A |
T |
13: 119,577,356 (GRCm39) |
H149L |
possibly damaging |
Het |
| Pdhx |
A |
T |
2: 102,877,099 (GRCm39) |
D103E |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,109,080 (GRCm39) |
Y1614C |
|
Het |
| Pias3 |
ACC |
AC |
3: 96,608,701 (GRCm39) |
|
probably null |
Het |
| Pigb |
A |
G |
9: 72,941,770 (GRCm39) |
V163A |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,114,620 (GRCm39) |
I37T |
possibly damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,059,982 (GRCm39) |
V610D |
probably damaging |
Het |
| Pramel41 |
G |
A |
5: 94,596,394 (GRCm39) |
C477Y |
probably damaging |
Het |
| Prss1 |
T |
C |
6: 41,439,507 (GRCm39) |
V80A |
probably benign |
Het |
| Psph |
G |
A |
5: 129,847,800 (GRCm39) |
R49W |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,347,080 (GRCm39) |
Y1248C |
possibly damaging |
Het |
| Rlbp1 |
T |
A |
7: 79,029,861 (GRCm39) |
Y124F |
probably damaging |
Het |
| Scn4a |
T |
A |
11: 106,239,995 (GRCm39) |
E74V |
probably benign |
Het |
| Sdk2 |
A |
T |
11: 113,764,039 (GRCm39) |
I249N |
possibly damaging |
Het |
| Sgsh |
A |
T |
11: 119,237,378 (GRCm39) |
L412Q |
probably damaging |
Het |
| Shank1 |
C |
A |
7: 44,002,452 (GRCm39) |
D1390E |
probably benign |
Het |
| Slc12a6 |
A |
G |
2: 112,172,319 (GRCm39) |
D421G |
probably damaging |
Het |
| Snx29 |
T |
A |
16: 11,238,649 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
A |
G |
13: 65,183,937 (GRCm39) |
Y493C |
probably damaging |
Het |
| Stmn4 |
G |
A |
14: 66,593,727 (GRCm39) |
G40E |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,656,154 (GRCm39) |
|
probably null |
Het |
| Strada |
T |
C |
11: 106,077,830 (GRCm39) |
S45G |
unknown |
Het |
| Taco1 |
G |
A |
11: 105,962,774 (GRCm39) |
G154S |
probably benign |
Het |
| Tas2r121 |
T |
C |
6: 132,677,505 (GRCm39) |
M156V |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,804,136 (GRCm39) |
S384G |
probably benign |
Het |
| Tbc1d9 |
A |
T |
8: 83,966,560 (GRCm39) |
D387V |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,345,289 (GRCm39) |
L1716P |
probably damaging |
Het |
| Thbs1 |
A |
G |
2: 117,943,843 (GRCm39) |
K154E |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 187,999,241 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Vmn1r235 |
C |
A |
17: 21,481,713 (GRCm39) |
Q13K |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,440,774 (GRCm39) |
Y361* |
probably null |
Het |
| Vmn2r88 |
A |
T |
14: 51,648,315 (GRCm39) |
|
probably null |
Het |
| Vps54 |
T |
C |
11: 21,248,831 (GRCm39) |
V460A |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,613,147 (GRCm39) |
N674S |
possibly damaging |
Het |
| Zfp592 |
A |
G |
7: 80,673,390 (GRCm39) |
D118G |
probably benign |
Het |
| Zfp763 |
A |
G |
17: 33,237,625 (GRCm39) |
Y507H |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,640,705 (GRCm39) |
E16G |
probably damaging |
Het |
| Zfyve26 |
G |
A |
12: 79,337,731 (GRCm39) |
L94F |
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 |
|
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'- TCTCACTGGTGCTCTCCAAG -3'
(R):5'- GATACAGAAAGTGCTCCCTCTC -3'
Sequencing Primer
(F):5'- CCCTTCACCTTTAGACGCAG -3'
(R):5'- AGAAAGTGCTCCCTCTCCTTCAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation