Incidental Mutation 'R0501:Ncor1'
| ID |
47142 |
| 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 |
038696-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0501 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
62207132-62348200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62264148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 418
(D418V)
|
| 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: D828V
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000018645
Gene: ENSMUSG00000018501
AA Change: D828V
| 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: D828V
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000098627
Gene: ENSMUSG00000018501
AA Change: D828V
| 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: D778V
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000098628
Gene: ENSMUSG00000018501
AA Change: D778V
| 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 |
probably benign
Transcript: ENSMUST00000127471
|
| SMART Domains |
Protein: ENSMUSP00000121806
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
|
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: D418V
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125317
Gene: ENSMUSG00000018501
AA Change: D418V
| 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: D144V
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122654
Gene: ENSMUSG00000018501
AA Change: D144V
| 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 |
unknown
Transcript: ENSMUST00000161288
AA Change: D215V
|
| SMART Domains |
Protein: ENSMUSP00000124045
Gene: ENSMUSG00000018501
AA Change: D215V
| 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 |
noncoding transcript
Transcript: ENSMUST00000161116
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162077
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161699
|
| SMART Domains |
Protein: ENSMUSP00000124120
Gene: ENSMUSG00000018501
| 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 |
probably benign
Transcript: ENSMUST00000162236
|
| SMART Domains |
Protein: ENSMUSP00000124698
Gene: ENSMUSG00000018501
| 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: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,209,216 (GRCm39) |
S415P |
probably benign |
Het |
| Adam19 |
C |
T |
11: 46,013,957 (GRCm39) |
P316S |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,558,972 (GRCm39) |
D229G |
probably benign |
Het |
| Adcy10 |
C |
T |
1: 165,337,959 (GRCm39) |
P191L |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,707,269 (GRCm39) |
Y1379C |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,020,685 (GRCm39) |
L1132P |
probably damaging |
Het |
| Aoah |
A |
G |
13: 21,189,243 (GRCm39) |
T489A |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,150,958 (GRCm39) |
L1975P |
probably damaging |
Het |
| Bpifa5 |
A |
T |
2: 154,005,616 (GRCm39) |
D66V |
probably benign |
Het |
| C230029F24Rik |
T |
C |
1: 49,374,629 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1h |
A |
T |
17: 25,607,641 (GRCm39) |
V892E |
probably damaging |
Het |
| Car4 |
G |
A |
11: 84,854,268 (GRCm39) |
V72I |
probably benign |
Het |
| Cfap91 |
C |
G |
16: 38,155,997 (GRCm39) |
M75I |
probably damaging |
Het |
| Chst3 |
A |
G |
10: 60,022,049 (GRCm39) |
L266P |
probably damaging |
Het |
| Ckap2l |
G |
A |
2: 129,127,411 (GRCm39) |
R256W |
possibly damaging |
Het |
| Cntn4 |
A |
T |
6: 106,595,296 (GRCm39) |
D471V |
probably damaging |
Het |
| Cntrob |
G |
A |
11: 69,213,694 (GRCm39) |
S32F |
probably damaging |
Het |
| Cpne7 |
T |
A |
8: 123,852,994 (GRCm39) |
N200K |
possibly damaging |
Het |
| Creb3l3 |
C |
A |
10: 80,922,416 (GRCm39) |
M271I |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,077,339 (GRCm39) |
Q106L |
probably damaging |
Het |
| D7Ertd443e |
G |
A |
7: 133,896,701 (GRCm39) |
T563I |
probably damaging |
Het |
| Dmac1 |
T |
G |
4: 75,196,413 (GRCm39) |
N26H |
unknown |
Het |
| Dop1b |
T |
C |
16: 93,549,750 (GRCm39) |
F230L |
probably benign |
Het |
| Dpp6 |
T |
A |
5: 27,930,604 (GRCm39) |
I812N |
probably damaging |
Het |
| Fabp12 |
T |
C |
3: 10,315,203 (GRCm39) |
D48G |
probably benign |
Het |
| Fbn1 |
G |
A |
2: 125,143,669 (GRCm39) |
T2820M |
probably benign |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,901,023 (GRCm39) |
S277R |
possibly damaging |
Het |
| Fmo2 |
A |
G |
1: 162,704,497 (GRCm39) |
S470P |
probably benign |
Het |
| Gm17541 |
T |
G |
12: 4,739,730 (GRCm39) |
|
probably benign |
Het |
| Gm4353 |
A |
T |
7: 115,682,706 (GRCm39) |
Y292N |
probably benign |
Het |
| Igkv4-71 |
A |
T |
6: 69,220,290 (GRCm39) |
I69N |
probably damaging |
Het |
| Insrr |
G |
T |
3: 87,717,991 (GRCm39) |
A871S |
probably benign |
Het |
| Irs2 |
C |
T |
8: 11,056,396 (GRCm39) |
V679M |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,326,263 (GRCm39) |
H1344Q |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,361,784 (GRCm39) |
M1074V |
possibly damaging |
Het |
| Kif1a |
G |
A |
1: 92,983,967 (GRCm39) |
R602W |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,090,837 (GRCm39) |
D1215V |
probably benign |
Het |
| Mapk13 |
G |
A |
17: 28,995,327 (GRCm39) |
V183M |
probably damaging |
Het |
| Mbp |
C |
T |
18: 82,593,322 (GRCm39) |
S100F |
probably damaging |
Het |
| Mcm6 |
A |
G |
1: 128,283,373 (GRCm39) |
I44T |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,839,736 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
T |
C |
19: 46,067,359 (GRCm39) |
V80A |
probably damaging |
Het |
| Or10a5 |
A |
T |
7: 106,635,439 (GRCm39) |
T26S |
probably benign |
Het |
| Or10ak14 |
C |
A |
4: 118,611,027 (GRCm39) |
C238F |
probably benign |
Het |
| Or12e9 |
A |
T |
2: 87,201,896 (GRCm39) |
R7W |
probably damaging |
Het |
| Or13e8 |
A |
C |
4: 43,697,079 (GRCm39) |
C31W |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,702,492 (GRCm39) |
L204* |
probably null |
Het |
| Or2ag1 |
A |
T |
7: 106,313,810 (GRCm39) |
M26K |
probably benign |
Het |
| Or2ag18 |
G |
A |
7: 106,405,018 (GRCm39) |
S217F |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,270,060 (GRCm39) |
T188A |
probably benign |
Het |
| Or4e1 |
T |
A |
14: 52,701,383 (GRCm39) |
M1L |
possibly damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,815 (GRCm39) |
I51N |
probably damaging |
Het |
| Or5m12 |
A |
G |
2: 85,735,348 (GRCm39) |
F17L |
probably damaging |
Het |
| Or7g35 |
T |
A |
9: 19,495,914 (GRCm39) |
I27N |
probably damaging |
Het |
| Pcgf3 |
T |
A |
5: 108,622,978 (GRCm39) |
C38S |
probably damaging |
Het |
| Pdia4 |
A |
T |
6: 47,777,936 (GRCm39) |
V352E |
probably damaging |
Het |
| Pik3c2a |
C |
A |
7: 115,953,290 (GRCm39) |
V1202L |
probably damaging |
Het |
| Rbm15 |
G |
T |
3: 107,239,846 (GRCm39) |
A184E |
possibly damaging |
Het |
| Rsph3a |
T |
A |
17: 8,197,952 (GRCm39) |
L442* |
probably null |
Het |
| Scg2 |
G |
C |
1: 79,413,320 (GRCm39) |
L468V |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,923,473 (GRCm39) |
I365L |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,246,140 (GRCm39) |
V595A |
probably benign |
Het |
| Skic3 |
A |
C |
13: 76,295,925 (GRCm39) |
M1063L |
probably benign |
Het |
| Slc22a22 |
T |
A |
15: 57,113,046 (GRCm39) |
T398S |
probably benign |
Het |
| Stk11 |
C |
A |
10: 79,962,119 (GRCm39) |
P217Q |
probably damaging |
Het |
| Tes |
G |
A |
6: 17,097,557 (GRCm39) |
D222N |
probably benign |
Het |
| Tmem132e |
T |
A |
11: 82,325,894 (GRCm39) |
I206N |
possibly damaging |
Het |
| Tmem214 |
G |
T |
5: 31,029,876 (GRCm39) |
R251L |
probably damaging |
Het |
| Tmem253 |
T |
A |
14: 52,256,036 (GRCm39) |
I105N |
probably damaging |
Het |
| Toe1 |
A |
G |
4: 116,664,682 (GRCm39) |
V12A |
probably benign |
Het |
| Top1 |
C |
A |
2: 160,556,079 (GRCm39) |
H513N |
probably damaging |
Het |
| Tph1 |
G |
T |
7: 46,299,412 (GRCm39) |
Y376* |
probably null |
Het |
| Trim45 |
T |
A |
3: 100,830,535 (GRCm39) |
L103Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,774,518 (GRCm39) |
|
probably null |
Het |
| Twnk |
T |
C |
19: 44,996,185 (GRCm39) |
V206A |
probably damaging |
Het |
| Ube2z |
A |
G |
11: 95,941,114 (GRCm39) |
S343P |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,951,049 (GRCm39) |
D132G |
probably benign |
Het |
| Wdr20rt |
A |
T |
12: 65,272,581 (GRCm39) |
T15S |
probably benign |
Het |
| Wdr59 |
C |
T |
8: 112,185,579 (GRCm39) |
R841Q |
possibly damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,036,151 (GRCm39) |
F130L |
possibly damaging |
Het |
| Wnk1 |
C |
T |
6: 119,939,764 (GRCm39) |
R43Q |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,236 (GRCm39) |
L461P |
probably damaging |
Het |
| Zcchc2 |
T |
G |
1: 105,943,821 (GRCm39) |
F462C |
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 |
|
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 |
|
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'- TCGATCTGTTCAGCCACTACCACG -3'
(R):5'- ACCAGTTGAAGCTGCCAAGTCC -3'
Sequencing Primer
(F):5'- AGCCACTACCACGTCTTCATC -3'
(R):5'- CAGTGAAAATGCTGCTTCTCG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation