Incidental Mutation 'R7352:Ncor1'
| ID |
570672 |
| 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 |
045438-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7352 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
62207132-62348200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62224737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 841
(V841A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018645]
[ENSMUST00000037575]
[ENSMUST00000101066]
[ENSMUST00000101067]
[ENSMUST00000155712]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018645
AA Change: V1895A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000018645
Gene: ENSMUSG00000018501
AA Change: V1895A
| 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: ENSMUST00000037575
AA Change: V841A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038900
Gene: ENSMUSG00000018501
AA Change: V841A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
|
coiled coil region
|
658 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
926 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1001 |
N/A |
INTRINSIC |
|
PDB:3N00|B
|
1010 |
1030 |
2e-7 |
PDB |
|
low complexity region
|
1032 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1102 |
1113 |
N/A |
INTRINSIC |
|
PDB:2OVM|B
|
1212 |
1235 |
2e-8 |
PDB |
|
low complexity region
|
1256 |
1269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101066
AA Change: V1895A
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000098627
Gene: ENSMUSG00000018501
AA Change: V1895A
| 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: V1828A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098628
Gene: ENSMUSG00000018501
AA Change: V1828A
| 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: ENSMUST00000155712
AA Change: V1165A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122654
Gene: ENSMUSG00000018501
AA Change: V1165A
| 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: ENSMUSP00000125458
Gene: ENSMUSG00000018501
AA Change: V830A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
462 |
N/A |
INTRINSIC |
|
coiled coil region
|
647 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
905 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
991 |
N/A |
INTRINSIC |
|
PDB:3N00|B
|
1000 |
1020 |
2e-7 |
PDB |
|
low complexity region
|
1022 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1092 |
1103 |
N/A |
INTRINSIC |
|
PDB:2OVM|B
|
1202 |
1225 |
2e-8 |
PDB |
|
low complexity region
|
1246 |
1259 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,508,028 (GRCm39) |
W1124* |
probably null |
Het |
| Acap3 |
G |
A |
4: 155,990,168 (GRCm39) |
V783I |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,345,796 (GRCm39) |
K172R |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,429,998 (GRCm39) |
L860P |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,106,331 (GRCm39) |
T1504I |
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,994,169 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
A |
G |
14: 60,028,653 (GRCm39) |
V938A |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,504,221 (GRCm39) |
M582V |
probably benign |
Het |
| Axdnd1 |
C |
T |
1: 156,210,047 (GRCm39) |
V408I |
possibly damaging |
Het |
| Babam2 |
T |
A |
5: 32,164,594 (GRCm39) |
Y326* |
probably null |
Het |
| Baiap2l1 |
T |
C |
5: 144,261,436 (GRCm39) |
M20V |
probably benign |
Het |
| Bex6 |
A |
G |
16: 32,005,034 (GRCm39) |
|
probably benign |
Het |
| Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
| Cad |
T |
A |
5: 31,215,422 (GRCm39) |
S78T |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,736,260 (GRCm39) |
D1210E |
possibly damaging |
Het |
| Ccnd1 |
T |
C |
7: 144,491,124 (GRCm39) |
I161V |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,265,745 (GRCm39) |
F1396I |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,597,423 (GRCm39) |
D373E |
probably benign |
Het |
| Chrna4 |
A |
T |
2: 180,679,267 (GRCm39) |
I60N |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,137 (GRCm39) |
T586A |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 128,451,429 (GRCm39) |
V3396F |
|
Het |
| Cyp3a44 |
T |
A |
5: 145,740,498 (GRCm39) |
L47F |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,123 (GRCm39) |
H183Q |
probably benign |
Het |
| Ddx27 |
T |
C |
2: 166,871,433 (GRCm39) |
V510A |
probably benign |
Het |
| Dgat1 |
G |
T |
15: 76,387,024 (GRCm39) |
C396* |
probably null |
Het |
| Dmpk |
A |
G |
7: 18,819,997 (GRCm39) |
S83G |
probably damaging |
Het |
| Dsc2 |
T |
G |
18: 20,168,392 (GRCm39) |
D689A |
probably benign |
Het |
| Eppk1 |
A |
T |
15: 75,990,618 (GRCm39) |
W2088R |
probably benign |
Het |
| Exph5 |
A |
C |
9: 53,287,022 (GRCm39) |
I1368L |
probably benign |
Het |
| Fadd |
T |
C |
7: 144,134,396 (GRCm39) |
K163R |
probably benign |
Het |
| Fam149a |
T |
A |
8: 45,794,034 (GRCm39) |
Q759L |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,448 (GRCm39) |
M449K |
probably benign |
Het |
| Gad1 |
T |
C |
2: 70,425,094 (GRCm39) |
F463L |
probably benign |
Het |
| Gad2 |
T |
A |
2: 22,513,835 (GRCm39) |
F91I |
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,116,520 (GRCm39) |
|
probably null |
Het |
| Gjd3 |
A |
C |
11: 102,691,278 (GRCm39) |
C242G |
probably damaging |
Het |
| Gkn1 |
T |
C |
6: 87,325,100 (GRCm39) |
E103G |
possibly damaging |
Het |
| Gm867 |
T |
C |
10: 75,775,670 (GRCm39) |
T39A |
probably benign |
Het |
| Gpr108 |
A |
G |
17: 57,543,944 (GRCm39) |
Y421H |
probably damaging |
Het |
| Gramd1b |
A |
C |
9: 40,219,289 (GRCm39) |
V508G |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,595,237 (GRCm39) |
I797N |
probably damaging |
Het |
| Ice1 |
G |
A |
13: 70,754,221 (GRCm39) |
Q622* |
probably null |
Het |
| Kcnb2 |
T |
A |
1: 15,780,835 (GRCm39) |
V569E |
probably benign |
Het |
| Ksr2 |
T |
G |
5: 117,827,706 (GRCm39) |
I495S |
probably benign |
Het |
| Litaf |
A |
T |
16: 10,781,217 (GRCm39) |
M94K |
probably damaging |
Het |
| Lmod2 |
T |
C |
6: 24,598,110 (GRCm39) |
S77P |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,302,741 (GRCm39) |
S2996Y |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,857,518 (GRCm39) |
S436P |
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,001,387 (GRCm39) |
V58D |
unknown |
Het |
| Mapkapk3 |
C |
A |
9: 107,134,269 (GRCm39) |
D332Y |
possibly damaging |
Het |
| Mroh1 |
C |
A |
15: 76,335,674 (GRCm39) |
P1439Q |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 88,817,063 (GRCm39) |
M248V |
probably benign |
Het |
| Olig2 |
A |
G |
16: 91,023,577 (GRCm39) |
D97G |
probably benign |
Het |
| Or4a2 |
C |
A |
2: 89,248,311 (GRCm39) |
G149W |
probably damaging |
Het |
| Or4a39 |
T |
C |
2: 89,236,806 (GRCm39) |
M206V |
probably benign |
Het |
| Or4p8 |
T |
A |
2: 88,727,062 (GRCm39) |
N293I |
probably damaging |
Het |
| Or5b95 |
A |
G |
19: 12,658,115 (GRCm39) |
I214M |
possibly damaging |
Het |
| Or5g23 |
T |
C |
2: 85,439,128 (GRCm39) |
N42S |
probably damaging |
Het |
| Or6f2 |
A |
T |
7: 139,756,438 (GRCm39) |
Y135F |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,139,898 (GRCm39) |
V509E |
probably damaging |
Het |
| Pglyrp3 |
G |
A |
3: 91,921,947 (GRCm39) |
W5* |
probably null |
Het |
| Phf14 |
A |
T |
6: 11,961,637 (GRCm39) |
N425Y |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,843,407 (GRCm39) |
R1851S |
possibly damaging |
Het |
| Pigs |
A |
G |
11: 78,219,638 (GRCm39) |
T39A |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,411,427 (GRCm39) |
M868T |
probably benign |
Het |
| Pnma2 |
A |
G |
14: 67,153,870 (GRCm39) |
Q98R |
possibly damaging |
Het |
| Ppp4r3a |
G |
A |
12: 101,008,091 (GRCm39) |
T782I |
probably damaging |
Het |
| Pramel52-ps |
A |
T |
5: 94,531,743 (GRCm39) |
N209I |
probably damaging |
Het |
| Prickle2 |
T |
G |
6: 92,387,871 (GRCm39) |
E566D |
probably benign |
Het |
| Pvr |
A |
G |
7: 19,644,541 (GRCm39) |
I331T |
possibly damaging |
Het |
| Ranbp3l |
A |
T |
15: 8,997,842 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
T |
A |
2: 72,010,435 (GRCm39) |
I331N |
probably damaging |
Het |
| Reg3g |
C |
T |
6: 78,443,842 (GRCm39) |
W122* |
probably null |
Het |
| Rigi |
T |
A |
4: 40,239,668 (GRCm39) |
Q10L |
probably benign |
Het |
| Rlbp1 |
A |
T |
7: 79,031,428 (GRCm39) |
I100N |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,334,405 (GRCm39) |
Y3206N |
|
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Rtl6 |
G |
T |
15: 84,441,181 (GRCm39) |
R72S |
possibly damaging |
Het |
| Rufy3 |
T |
A |
5: 88,785,053 (GRCm39) |
D408E |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,356,045 (GRCm39) |
I230V |
possibly damaging |
Het |
| Slc23a4 |
A |
T |
6: 34,925,214 (GRCm39) |
I507N |
possibly damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,688,865 (GRCm39) |
T392A |
probably damaging |
Het |
| Spaca7 |
T |
A |
8: 12,635,742 (GRCm39) |
I86K |
probably benign |
Het |
| Syt10 |
G |
T |
15: 89,698,659 (GRCm39) |
D228E |
probably benign |
Het |
| Tbx3 |
T |
A |
5: 119,815,625 (GRCm39) |
N308K |
probably benign |
Het |
| Telo2 |
A |
G |
17: 25,321,043 (GRCm39) |
V724A |
probably damaging |
Het |
| Tfip11 |
T |
C |
5: 112,481,134 (GRCm39) |
V370A |
probably benign |
Het |
| Thbs3 |
A |
G |
3: 89,132,587 (GRCm39) |
E843G |
probably benign |
Het |
| Tmprss11g |
T |
C |
5: 86,644,401 (GRCm39) |
I148V |
not run |
Het |
| Trbv14 |
T |
A |
6: 41,112,429 (GRCm39) |
D75E |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,732,962 (GRCm39) |
V2973A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,624,828 (GRCm39) |
D15250G |
probably damaging |
Het |
| Ubr2 |
G |
A |
17: 47,241,352 (GRCm39) |
T1734I |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,198,321 (GRCm39) |
A1462S |
probably benign |
Het |
| Ushbp1 |
T |
G |
8: 71,841,525 (GRCm39) |
T435P |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,747,728 (GRCm39) |
V7A |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,155,244 (GRCm39) |
V385A |
probably damaging |
Het |
| Wnt2b |
C |
T |
3: 104,854,493 (GRCm39) |
V322I |
probably benign |
Het |
| Zbtb8a |
C |
T |
4: 129,253,874 (GRCm39) |
V207M |
probably benign |
Het |
| Zc3hav1l |
A |
G |
6: 38,275,916 (GRCm39) |
M87T |
probably benign |
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 |
|
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'- ATCACGTCTATGAAGTTAGCTGC -3'
(R):5'- CCCTTCCATAAGTCAAGGCC -3'
Sequencing Primer
(F):5'- AGCTGCAGTAATGGTAGTCTTCCC -3'
(R):5'- TTACAACACTGCTGCGGATG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation