Incidental Mutation 'R1710:Ncor1'
| ID |
190467 |
| 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 |
039743-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1710 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62207132-62348200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62313831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 103
(D103G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018645]
[ENSMUST00000069456]
[ENSMUST00000101066]
[ENSMUST00000101067]
[ENSMUST00000127471]
[ENSMUST00000141447]
[ENSMUST00000155486]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018645
AA Change: D103G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018645
Gene: ENSMUSG00000018501
AA Change: D103G
| 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 |
possibly damaging
Transcript: ENSMUST00000069456
AA Change: D103G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000068974
Gene: ENSMUSG00000018501
AA Change: D103G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
74 |
N/A |
INTRINSIC |
|
coiled coil region
|
176 |
217 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101066
AA Change: D103G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098627
Gene: ENSMUSG00000018501
AA Change: D103G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
74 |
N/A |
INTRINSIC |
|
coiled coil region
|
176 |
217 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
366 |
N/A |
INTRINSIC |
|
SANT
|
437 |
485 |
2.76e-7 |
SMART |
|
coiled coil region
|
507 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
617 |
N/A |
INTRINSIC |
|
SANT
|
624 |
672 |
3.29e-14 |
SMART |
|
low complexity region
|
710 |
731 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
888 |
899 |
N/A |
INTRINSIC |
|
low complexity region
|
987 |
995 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1013 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1049 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1061 |
1298 |
1.62e-6 |
PROSPERO |
|
internal_repeat_2
|
1299 |
1515 |
1.62e-6 |
PROSPERO |
|
low complexity region
|
1516 |
1527 |
N/A |
INTRINSIC |
|
coiled coil region
|
1712 |
1749 |
N/A |
INTRINSIC |
|
low complexity region
|
1834 |
1848 |
N/A |
INTRINSIC |
|
low complexity region
|
1969 |
1980 |
N/A |
INTRINSIC |
|
low complexity region
|
2036 |
2055 |
N/A |
INTRINSIC |
|
PDB:3N00|B
|
2064 |
2084 |
4e-7 |
PDB |
|
low complexity region
|
2086 |
2101 |
N/A |
INTRINSIC |
|
low complexity region
|
2157 |
2168 |
N/A |
INTRINSIC |
|
PDB:2OVM|B
|
2267 |
2290 |
2e-8 |
PDB |
|
low complexity region
|
2311 |
2324 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101067
AA Change: D103G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098628
Gene: ENSMUSG00000018501
AA Change: D103G
| 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 damaging
Transcript: ENSMUST00000127471
AA Change: D103G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121806
Gene: ENSMUSG00000018501
AA Change: D103G
| 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 damaging
Transcript: ENSMUST00000141447
AA Change: D103G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123822
Gene: ENSMUSG00000018501
AA Change: D103G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155486
AA Change: D103G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122647
Gene: ENSMUSG00000018501
AA Change: D103G
| 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 |
|
| Meta Mutation Damage Score |
0.1135 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (117/120) |
| 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: 114 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
A |
T |
18: 70,601,134 (GRCm39) |
S249R |
possibly damaging |
Het |
| Acadvl |
T |
A |
11: 69,901,181 (GRCm39) |
I638F |
probably damaging |
Het |
| Acnat2 |
T |
A |
4: 49,380,587 (GRCm39) |
T264S |
probably benign |
Het |
| Acrv1 |
C |
T |
9: 36,605,551 (GRCm39) |
Q33* |
probably null |
Het |
| Actrt3 |
T |
A |
3: 30,653,901 (GRCm39) |
N33I |
probably damaging |
Het |
| Alyref2 |
T |
C |
1: 171,331,168 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,726,709 (GRCm39) |
E3712* |
probably null |
Het |
| Ano7 |
C |
A |
1: 93,313,346 (GRCm39) |
H161Q |
probably benign |
Het |
| Arhgap10 |
C |
A |
8: 78,085,216 (GRCm39) |
E451* |
probably null |
Het |
| Arhgap29 |
T |
A |
3: 121,801,729 (GRCm39) |
Y748N |
probably damaging |
Het |
| Arhgap45 |
C |
T |
10: 79,853,932 (GRCm39) |
Q149* |
probably null |
Het |
| Asap2 |
C |
T |
12: 21,274,393 (GRCm39) |
H371Y |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,735,372 (GRCm39) |
I480T |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,101,610 (GRCm39) |
D218G |
possibly damaging |
Het |
| Brdt |
A |
T |
5: 107,491,450 (GRCm39) |
D74V |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,962,638 (GRCm39) |
|
probably benign |
Het |
| Card11 |
T |
A |
5: 140,888,660 (GRCm39) |
K233* |
probably null |
Het |
| Catip |
T |
G |
1: 74,401,929 (GRCm39) |
F35V |
possibly damaging |
Het |
| Ccdc13 |
C |
T |
9: 121,648,647 (GRCm39) |
G247R |
probably damaging |
Het |
| Cep97 |
T |
A |
16: 55,735,385 (GRCm39) |
D471V |
probably damaging |
Het |
| Col17a1 |
A |
T |
19: 47,659,370 (GRCm39) |
L403Q |
probably damaging |
Het |
| Crbn |
A |
G |
6: 106,767,906 (GRCm39) |
S194P |
possibly damaging |
Het |
| Degs1l |
A |
G |
1: 180,878,884 (GRCm39) |
M1V |
probably null |
Het |
| Dennd10 |
A |
G |
19: 60,806,021 (GRCm39) |
Y102C |
probably damaging |
Het |
| Dhx58 |
T |
A |
11: 100,594,400 (GRCm39) |
H97L |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 31,073,914 (GRCm39) |
I4528T |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,404,092 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
A |
T |
19: 40,714,680 (GRCm39) |
Q263L |
probably benign |
Het |
| Entrep1 |
A |
T |
19: 23,957,059 (GRCm39) |
I317N |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,218,244 (GRCm39) |
I130M |
probably benign |
Het |
| Etv1 |
T |
C |
12: 38,902,261 (GRCm39) |
F264S |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,463,519 (GRCm39) |
S1354P |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,005,304 (GRCm39) |
T1901N |
probably damaging |
Het |
| Fbxw13 |
C |
T |
9: 109,010,586 (GRCm39) |
V351I |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,795,356 (GRCm39) |
F160L |
possibly damaging |
Het |
| Fyb2 |
T |
A |
4: 104,861,113 (GRCm39) |
D592E |
probably damaging |
Het |
| Gjb4 |
T |
C |
4: 127,245,663 (GRCm39) |
M93V |
possibly damaging |
Het |
| Gm5089 |
C |
A |
14: 122,673,566 (GRCm39) |
G52* |
probably null |
Het |
| Gm6401 |
G |
T |
14: 41,788,840 (GRCm39) |
N76K |
probably benign |
Het |
| Gm6871 |
A |
G |
7: 41,195,901 (GRCm39) |
S279P |
probably damaging |
Het |
| Gtf2ird2 |
T |
G |
5: 134,240,081 (GRCm39) |
V301G |
probably benign |
Het |
| H2bw2 |
A |
C |
X: 135,828,216 (GRCm39) |
D35A |
unknown |
Het |
| Hfm1 |
A |
G |
5: 107,028,380 (GRCm39) |
F817L |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,043,869 (GRCm39) |
E589G |
probably damaging |
Het |
| Hivep2 |
A |
T |
10: 14,005,249 (GRCm39) |
K616* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,551,735 (GRCm39) |
I2623N |
probably damaging |
Het |
| Igf2bp3 |
G |
T |
6: 49,082,565 (GRCm39) |
A339E |
probably damaging |
Het |
| Insyn2b |
T |
A |
11: 34,354,263 (GRCm39) |
|
probably null |
Het |
| Irx4 |
T |
C |
13: 73,415,757 (GRCm39) |
I182T |
possibly damaging |
Het |
| Jcad |
T |
C |
18: 4,674,511 (GRCm39) |
S758P |
probably damaging |
Het |
| Klhdc4 |
A |
T |
8: 122,526,226 (GRCm39) |
Y304* |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,060,786 (GRCm39) |
I705V |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,147,044 (GRCm39) |
N418S |
probably benign |
Het |
| Mmp21 |
C |
T |
7: 133,279,014 (GRCm39) |
V279I |
probably damaging |
Het |
| Morc4 |
A |
C |
X: 138,755,279 (GRCm39) |
C272W |
probably damaging |
Het |
| Mrm1 |
A |
T |
11: 84,709,518 (GRCm39) |
C180S |
probably damaging |
Het |
| Ndrg4 |
A |
G |
8: 96,437,314 (GRCm39) |
D251G |
probably damaging |
Het |
| Ndufaf5 |
T |
C |
2: 140,035,522 (GRCm39) |
V246A |
possibly damaging |
Het |
| Noa1 |
T |
C |
5: 77,457,572 (GRCm39) |
E111G |
possibly damaging |
Het |
| Nod1 |
C |
A |
6: 54,921,044 (GRCm39) |
V425F |
probably damaging |
Het |
| Nos1 |
A |
T |
5: 118,033,984 (GRCm39) |
I369F |
probably damaging |
Het |
| Nsun5 |
C |
T |
5: 135,400,170 (GRCm39) |
H98Y |
probably damaging |
Het |
| Optn |
G |
A |
2: 5,057,941 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or14c39 |
G |
A |
7: 86,344,318 (GRCm39) |
R218H |
probably benign |
Het |
| Or4k15c |
C |
G |
14: 50,321,827 (GRCm39) |
V104L |
probably benign |
Het |
| Or5k1b |
A |
G |
16: 58,581,504 (GRCm39) |
F12L |
probably benign |
Het |
| Or8d1b |
A |
G |
9: 38,887,202 (GRCm39) |
I77V |
probably damaging |
Het |
| Or8g28 |
T |
C |
9: 39,169,867 (GRCm39) |
I37V |
probably benign |
Het |
| Or9g19 |
C |
T |
2: 85,600,199 (GRCm39) |
T18I |
probably benign |
Het |
| Oscar |
C |
T |
7: 3,614,855 (GRCm39) |
W22* |
probably null |
Het |
| Palmd |
T |
A |
3: 116,717,306 (GRCm39) |
Y397F |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,768,121 (GRCm39) |
D447G |
probably damaging |
Het |
| Plscr5 |
T |
A |
9: 92,087,581 (GRCm39) |
N183K |
probably damaging |
Het |
| Polk |
T |
G |
13: 96,625,712 (GRCm39) |
D364A |
probably damaging |
Het |
| Polr3d |
T |
C |
14: 70,680,450 (GRCm39) |
T36A |
probably benign |
Het |
| Ppp1r10 |
A |
T |
17: 36,237,428 (GRCm39) |
R199S |
probably damaging |
Het |
| Prkcz |
C |
T |
4: 155,346,969 (GRCm39) |
D388N |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,102,234 (GRCm39) |
L769P |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,213,966 (GRCm39) |
V232A |
probably damaging |
Het |
| Pth2r |
T |
C |
1: 65,375,997 (GRCm39) |
V85A |
possibly damaging |
Het |
| Rbpms2 |
T |
C |
9: 65,566,494 (GRCm39) |
|
probably benign |
Het |
| Reps1 |
A |
T |
10: 17,994,698 (GRCm39) |
D514V |
possibly damaging |
Het |
| Riok3 |
G |
T |
18: 12,276,018 (GRCm39) |
R238L |
probably benign |
Het |
| Rnf19a |
T |
C |
15: 36,244,353 (GRCm39) |
Q569R |
probably damaging |
Het |
| Rorb |
G |
A |
19: 18,937,865 (GRCm39) |
T267I |
probably damaging |
Het |
| Rrm2b |
A |
T |
15: 37,929,340 (GRCm39) |
M70K |
probably damaging |
Het |
| Rsf1 |
A |
T |
7: 97,311,556 (GRCm39) |
E762V |
possibly damaging |
Het |
| S100a2 |
G |
A |
3: 90,498,699 (GRCm39) |
V67I |
probably benign |
Het |
| Skp1 |
T |
A |
11: 52,133,442 (GRCm39) |
D42E |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,918,801 (GRCm39) |
M1K |
probably null |
Het |
| Slc2a9 |
T |
A |
5: 38,539,387 (GRCm39) |
Q371L |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,665,075 (GRCm39) |
T475A |
probably benign |
Het |
| Slc8b1 |
A |
G |
5: 120,657,717 (GRCm39) |
N60S |
probably damaging |
Het |
| Slx4 |
A |
C |
16: 3,817,022 (GRCm39) |
D66E |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,977,113 (GRCm39) |
I156N |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,569,244 (GRCm39) |
C218S |
possibly damaging |
Het |
| Sulf2 |
T |
C |
2: 165,920,992 (GRCm39) |
I784V |
probably benign |
Het |
| Tatdn2 |
G |
T |
6: 113,674,888 (GRCm39) |
R72L |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,445,918 (GRCm39) |
D91G |
possibly damaging |
Het |
| Tifab |
C |
A |
13: 56,324,433 (GRCm39) |
R3S |
probably benign |
Het |
| Tm4sf1 |
A |
T |
3: 57,200,304 (GRCm39) |
S104T |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,334,343 (GRCm39) |
I618N |
probably damaging |
Het |
| Ttc7b |
A |
T |
12: 100,369,667 (GRCm39) |
D367E |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,719,203 (GRCm39) |
D678G |
possibly damaging |
Het |
| Vgll4 |
A |
G |
6: 114,934,895 (GRCm39) |
|
probably null |
Het |
| Vmn2r124 |
A |
T |
17: 18,282,187 (GRCm39) |
|
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,820 (GRCm39) |
D587G |
probably benign |
Het |
| Vmn2r84 |
G |
A |
10: 130,226,968 (GRCm39) |
A290V |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,818,811 (GRCm39) |
S1077R |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,489,719 (GRCm39) |
A495V |
probably benign |
Het |
| Vwa3a |
A |
T |
7: 120,403,254 (GRCm39) |
|
probably null |
Het |
| Zfhx2 |
C |
A |
14: 55,303,455 (GRCm39) |
A1510S |
possibly damaging |
Het |
| Zfp142 |
T |
A |
1: 74,611,389 (GRCm39) |
D601V |
probably damaging |
Het |
| Zfp62 |
T |
C |
11: 49,108,510 (GRCm39) |
I867T |
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 |
|
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'- ATCCATGCCTTGGTGCAGAAGC -3'
(R):5'- GAGTGGGCAGCAATTCATTTTGGAAG -3'
Sequencing Primer
(F):5'- GGCACTCTGCCTAAAATTGG -3'
(R):5'- GGAAGTAAGTATGACCTTTCGCTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation