Incidental Mutation 'R7814:Ncor1'
ID |
601377 |
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 |
045869-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7814 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
62207132-62348200 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62224752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 836
(V836E)
|
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: V1890E
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000018645 Gene: ENSMUSG00000018501 AA Change: V1890E
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: V836E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000038900 Gene: ENSMUSG00000018501 AA Change: V836E
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: V1890E
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000098627 Gene: ENSMUSG00000018501 AA Change: V1890E
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: V1823E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000098628 Gene: ENSMUSG00000018501 AA Change: V1823E
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 |
possibly damaging
Transcript: ENSMUST00000155712
AA Change: V1160E
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122654 Gene: ENSMUSG00000018501 AA Change: V1160E
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
47 |
N/A |
INTRINSIC |
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
low complexity region
|
303 |
311 |
N/A |
INTRINSIC |
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
low complexity region
|
352 |
365 |
N/A |
INTRINSIC |
low complexity region
|
785 |
796 |
N/A |
INTRINSIC |
coiled coil region
|
982 |
1019 |
N/A |
INTRINSIC |
low complexity region
|
1104 |
1118 |
N/A |
INTRINSIC |
low complexity region
|
1239 |
1250 |
N/A |
INTRINSIC |
low complexity region
|
1306 |
1325 |
N/A |
INTRINSIC |
PDB:3N00|B
|
1334 |
1354 |
3e-7 |
PDB |
low complexity region
|
1356 |
1371 |
N/A |
INTRINSIC |
low complexity region
|
1427 |
1438 |
N/A |
INTRINSIC |
PDB:2OVM|B
|
1537 |
1560 |
2e-8 |
PDB |
low complexity region
|
1581 |
1594 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156740
AA Change: V825E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125458 Gene: ENSMUSG00000018501 AA Change: V825E
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 |
|
Meta Mutation Damage Score |
0.0624 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (90/90) |
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110065P20Rik |
C |
T |
4: 124,744,395 (GRCm39) |
G20R |
not run |
Het |
Adamts13 |
A |
T |
2: 26,886,561 (GRCm39) |
M927L |
probably benign |
Het |
Akap6 |
T |
A |
12: 53,187,744 (GRCm39) |
N1719K |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,822,734 (GRCm39) |
V468M |
|
Het |
Aox1 |
A |
G |
1: 58,124,626 (GRCm39) |
T956A |
probably benign |
Het |
Ap4m1 |
T |
C |
5: 138,173,079 (GRCm39) |
V140A |
probably benign |
Het |
Apc |
A |
G |
18: 34,405,592 (GRCm39) |
T173A |
probably damaging |
Het |
Bclaf1 |
A |
G |
10: 20,210,365 (GRCm39) |
T839A |
possibly damaging |
Het |
Btn2a2 |
T |
A |
13: 23,666,976 (GRCm39) |
I210F |
possibly damaging |
Het |
Cadps |
A |
G |
14: 12,376,706 (GRCm38) |
W1269R |
probably damaging |
Het |
Capn2 |
G |
C |
1: 182,319,711 (GRCm39) |
P159R |
probably damaging |
Het |
Cblif |
C |
A |
19: 11,727,551 (GRCm39) |
P125Q |
probably benign |
Het |
Ccdc134 |
T |
G |
15: 82,015,724 (GRCm39) |
V68G |
probably damaging |
Het |
Cdh26 |
A |
G |
2: 178,111,828 (GRCm39) |
T463A |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,716,347 (GRCm39) |
V373I |
probably benign |
Het |
Clpx |
T |
C |
9: 65,231,583 (GRCm39) |
|
probably null |
Het |
Ctnnd2 |
A |
T |
15: 31,020,874 (GRCm39) |
Y1145F |
probably benign |
Het |
Ctr9 |
T |
A |
7: 110,633,134 (GRCm39) |
D127E |
probably benign |
Het |
Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
Cyp7b1 |
G |
A |
3: 18,151,466 (GRCm39) |
S249L |
probably benign |
Het |
D630023F18Rik |
T |
A |
1: 65,155,850 (GRCm39) |
D125V |
possibly damaging |
Het |
Dbh |
A |
T |
2: 27,064,860 (GRCm39) |
Y357F |
probably damaging |
Het |
Dbp |
T |
A |
7: 45,356,414 (GRCm39) |
L175Q |
probably benign |
Het |
Dmwd |
A |
T |
7: 18,814,768 (GRCm39) |
T473S |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,896,486 (GRCm39) |
Q2446L |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,842,615 (GRCm39) |
K498R |
probably benign |
Het |
Dop1b |
T |
A |
16: 93,596,859 (GRCm39) |
I1924N |
probably damaging |
Het |
Dsg1a |
T |
A |
18: 20,471,572 (GRCm39) |
|
probably null |
Het |
Dzank1 |
T |
C |
2: 144,364,484 (GRCm39) |
T38A |
probably damaging |
Het |
Egfem1 |
A |
G |
3: 29,740,940 (GRCm39) |
H538R |
probably damaging |
Het |
Entpd1 |
T |
C |
19: 40,715,891 (GRCm39) |
C353R |
probably damaging |
Het |
Ephx2 |
C |
A |
14: 66,347,678 (GRCm39) |
C78F |
probably benign |
Het |
Faf2 |
A |
T |
13: 54,808,774 (GRCm39) |
H388L |
probably benign |
Het |
Fam186a |
G |
A |
15: 99,842,545 (GRCm39) |
T1233I |
possibly damaging |
Het |
Gfra2 |
C |
A |
14: 71,133,410 (GRCm39) |
A80E |
probably damaging |
Het |
Gm17175 |
T |
A |
14: 51,811,492 (GRCm39) |
|
probably benign |
Het |
Gm8180 |
T |
C |
14: 44,021,103 (GRCm39) |
D35G |
possibly damaging |
Het |
Gpr68 |
C |
T |
12: 100,845,302 (GRCm39) |
V81M |
probably damaging |
Het |
Hsd3b6 |
A |
G |
3: 98,718,259 (GRCm39) |
L35P |
probably damaging |
Het |
Hspd1 |
A |
C |
1: 55,117,803 (GRCm39) |
V485G |
possibly damaging |
Het |
Il16 |
A |
G |
7: 83,319,348 (GRCm39) |
V381A |
possibly damaging |
Het |
Il17rd |
G |
A |
14: 26,822,074 (GRCm39) |
C600Y |
probably benign |
Het |
Ins2 |
C |
A |
7: 142,233,323 (GRCm39) |
|
probably benign |
Het |
Iqca1l |
G |
T |
5: 24,750,420 (GRCm39) |
Q626K |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,708,561 (GRCm39) |
I872T |
probably benign |
Het |
Jakmip3 |
A |
T |
7: 138,620,858 (GRCm39) |
D219V |
probably damaging |
Het |
Jph4 |
T |
C |
14: 55,347,192 (GRCm39) |
T452A |
probably damaging |
Het |
Kazn |
T |
C |
4: 141,937,481 (GRCm39) |
E12G |
unknown |
Het |
Kif20b |
A |
C |
19: 34,928,355 (GRCm39) |
S1206R |
possibly damaging |
Het |
Lca5l |
A |
G |
16: 95,963,757 (GRCm39) |
|
probably null |
Het |
Lgals2 |
A |
T |
15: 78,735,533 (GRCm39) |
S60R |
probably benign |
Het |
Lrrc37 |
T |
A |
11: 103,504,999 (GRCm39) |
H2323L |
possibly damaging |
Het |
Map10 |
A |
G |
8: 126,398,350 (GRCm39) |
E581G |
probably benign |
Het |
Map2k7 |
G |
T |
8: 4,293,744 (GRCm39) |
R128L |
probably benign |
Het |
Mapk8 |
G |
C |
14: 33,132,834 (GRCm39) |
S34* |
probably null |
Het |
Mcat |
A |
G |
15: 83,432,110 (GRCm39) |
Y253H |
probably damaging |
Het |
Mmp2 |
T |
C |
8: 93,576,798 (GRCm39) |
L607P |
probably benign |
Het |
Neb |
A |
G |
2: 52,027,392 (GRCm39) |
S7113P |
probably damaging |
Het |
Nphp4 |
T |
C |
4: 152,608,729 (GRCm39) |
F446L |
possibly damaging |
Het |
Nphp4 |
G |
T |
4: 152,628,860 (GRCm39) |
D749Y |
probably damaging |
Het |
Or14j4 |
T |
A |
17: 37,921,547 (GRCm39) |
T32S |
probably benign |
Het |
Or1j10 |
T |
C |
2: 36,266,821 (GRCm39) |
I11T |
possibly damaging |
Het |
Or4c99 |
A |
G |
2: 88,329,416 (GRCm39) |
|
probably benign |
Het |
Or5k8 |
T |
C |
16: 58,644,365 (GRCm39) |
K236E |
probably damaging |
Het |
Osbpl11 |
A |
T |
16: 33,030,431 (GRCm39) |
R220* |
probably null |
Het |
Plrg1 |
G |
A |
3: 82,964,144 (GRCm39) |
V26M |
probably damaging |
Het |
Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
Ppfia3 |
A |
C |
7: 45,001,686 (GRCm39) |
S560A |
probably benign |
Het |
Ppp3cc |
T |
A |
14: 70,462,464 (GRCm39) |
N391I |
possibly damaging |
Het |
Prdx6b |
T |
C |
2: 80,123,304 (GRCm39) |
S38P |
possibly damaging |
Het |
Psg23 |
A |
T |
7: 18,340,839 (GRCm39) |
*472R |
probably null |
Het |
Rapgef4 |
A |
T |
2: 72,053,461 (GRCm39) |
M587L |
probably benign |
Het |
Rfx3 |
T |
A |
19: 27,803,470 (GRCm39) |
M247L |
probably benign |
Het |
Rgs7 |
T |
A |
1: 174,903,635 (GRCm39) |
H463L |
probably benign |
Het |
Riiad1 |
G |
T |
3: 94,373,162 (GRCm39) |
S106R |
probably benign |
Het |
Rims4 |
A |
C |
2: 163,760,548 (GRCm39) |
I19S |
probably benign |
Het |
Ros1 |
A |
T |
10: 51,972,233 (GRCm39) |
M1648K |
probably benign |
Het |
Rrn3 |
T |
C |
16: 13,629,453 (GRCm39) |
F590L |
probably benign |
Het |
Samd9l |
T |
A |
6: 3,374,793 (GRCm39) |
T823S |
possibly damaging |
Het |
Sfxn1 |
C |
A |
13: 54,245,250 (GRCm39) |
P115Q |
possibly damaging |
Het |
Slc10a7 |
T |
C |
8: 79,425,202 (GRCm39) |
|
probably null |
Het |
Slc25a16 |
A |
T |
10: 62,773,199 (GRCm39) |
M142L |
probably benign |
Het |
Stat2 |
CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC |
CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC |
10: 128,126,597 (GRCm39) |
|
probably benign |
Het |
Stat5a |
T |
G |
11: 100,765,853 (GRCm39) |
L313R |
probably damaging |
Het |
Strap |
A |
G |
6: 137,718,976 (GRCm39) |
E176G |
possibly damaging |
Het |
Tlr4 |
T |
G |
4: 66,759,316 (GRCm39) |
L703R |
probably damaging |
Het |
Trim36 |
A |
T |
18: 46,300,691 (GRCm39) |
V660D |
possibly damaging |
Het |
Tspoap1 |
T |
A |
11: 87,666,350 (GRCm39) |
D980E |
probably damaging |
Het |
Usp28 |
T |
C |
9: 48,915,218 (GRCm39) |
V157A |
probably benign |
Het |
Vmn2r17 |
A |
T |
5: 109,575,739 (GRCm39) |
R203S |
probably benign |
Het |
Vmn2r66 |
T |
C |
7: 84,656,472 (GRCm39) |
I181M |
probably benign |
Het |
Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
Zfp442 |
C |
T |
2: 150,251,402 (GRCm39) |
D167N |
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 |
R0501:Ncor1
|
UTSW |
11 |
62,264,148 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0544:Ncor1
|
UTSW |
11 |
62,224,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R0544:Ncor1
|
UTSW |
11 |
62,224,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R0563:Ncor1
|
UTSW |
11 |
62,234,056 (GRCm39) |
missense |
probably damaging |
0.97 |
R1074:Ncor1
|
UTSW |
11 |
62,283,377 (GRCm39) |
missense |
probably damaging |
0.99 |
R1266:Ncor1
|
UTSW |
11 |
62,224,866 (GRCm39) |
missense |
probably damaging |
0.98 |
R1444:Ncor1
|
UTSW |
11 |
62,294,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R1452:Ncor1
|
UTSW |
11 |
62,225,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R1534:Ncor1
|
UTSW |
11 |
62,269,330 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1710:Ncor1
|
UTSW |
11 |
62,313,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R1762:Ncor1
|
UTSW |
11 |
62,275,610 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1771:Ncor1
|
UTSW |
11 |
62,217,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:Ncor1
|
UTSW |
11 |
62,272,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Ncor1
|
UTSW |
11 |
62,228,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R1906:Ncor1
|
UTSW |
11 |
62,240,211 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2009:Ncor1
|
UTSW |
11 |
62,216,427 (GRCm39) |
missense |
probably benign |
0.43 |
R3708:Ncor1
|
UTSW |
11 |
62,235,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R3825:Ncor1
|
UTSW |
11 |
62,264,183 (GRCm39) |
missense |
probably benign |
0.00 |
R3923:Ncor1
|
UTSW |
11 |
62,216,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R3966:Ncor1
|
UTSW |
11 |
62,235,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R4049:Ncor1
|
UTSW |
11 |
62,220,494 (GRCm39) |
splice site |
probably null |
|
R4350:Ncor1
|
UTSW |
11 |
62,301,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4351:Ncor1
|
UTSW |
11 |
62,301,644 (GRCm39) |
critical splice donor site |
probably null |
|
R4359:Ncor1
|
UTSW |
11 |
62,249,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R4712:Ncor1
|
UTSW |
11 |
62,235,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R4723:Ncor1
|
UTSW |
11 |
62,269,438 (GRCm39) |
missense |
probably benign |
0.26 |
R4863:Ncor1
|
UTSW |
11 |
62,283,464 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4875:Ncor1
|
UTSW |
11 |
62,324,437 (GRCm39) |
small deletion |
probably benign |
|
R4956:Ncor1
|
UTSW |
11 |
62,231,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R4993:Ncor1
|
UTSW |
11 |
62,234,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R5079:Ncor1
|
UTSW |
11 |
62,236,063 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5144:Ncor1
|
UTSW |
11 |
62,240,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R5223:Ncor1
|
UTSW |
11 |
62,229,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R5243:Ncor1
|
UTSW |
11 |
62,229,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R5271:Ncor1
|
UTSW |
11 |
62,231,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R5285:Ncor1
|
UTSW |
11 |
62,283,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R5533:Ncor1
|
UTSW |
11 |
62,233,837 (GRCm39) |
missense |
probably benign |
0.00 |
R5580:Ncor1
|
UTSW |
11 |
62,280,604 (GRCm39) |
nonsense |
probably null |
|
R5593:Ncor1
|
UTSW |
11 |
62,260,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R5609:Ncor1
|
UTSW |
11 |
62,249,679 (GRCm39) |
splice site |
probably null |
|
R5632:Ncor1
|
UTSW |
11 |
62,229,060 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5830:Ncor1
|
UTSW |
11 |
62,235,589 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5896:Ncor1
|
UTSW |
11 |
62,274,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R5973:Ncor1
|
UTSW |
11 |
62,240,136 (GRCm39) |
splice site |
probably null |
|
R6013:Ncor1
|
UTSW |
11 |
62,211,903 (GRCm39) |
missense |
probably benign |
|
R6019:Ncor1
|
UTSW |
11 |
62,263,987 (GRCm39) |
missense |
probably benign |
0.00 |
R6032:Ncor1
|
UTSW |
11 |
62,264,147 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6032:Ncor1
|
UTSW |
11 |
62,264,147 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6075:Ncor1
|
UTSW |
11 |
62,208,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R6091:Ncor1
|
UTSW |
11 |
62,310,443 (GRCm39) |
missense |
probably damaging |
0.98 |
R6248:Ncor1
|
UTSW |
11 |
62,257,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R6281:Ncor1
|
UTSW |
11 |
62,264,371 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6351:Ncor1
|
UTSW |
11 |
62,264,124 (GRCm39) |
missense |
probably benign |
0.30 |
R6469:Ncor1
|
UTSW |
11 |
62,234,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R6502:Ncor1
|
UTSW |
11 |
62,272,240 (GRCm39) |
nonsense |
probably null |
|
R6614:Ncor1
|
UTSW |
11 |
62,221,645 (GRCm39) |
missense |
probably benign |
0.01 |
R6650:Ncor1
|
UTSW |
11 |
62,225,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R6765:Ncor1
|
UTSW |
11 |
62,264,272 (GRCm39) |
missense |
probably benign |
0.01 |
R6852:Ncor1
|
UTSW |
11 |
62,234,071 (GRCm39) |
missense |
probably damaging |
0.97 |
R6909:Ncor1
|
UTSW |
11 |
62,220,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R6965:Ncor1
|
UTSW |
11 |
62,244,059 (GRCm39) |
critical splice donor site |
probably null |
|
R7054:Ncor1
|
UTSW |
11 |
62,275,619 (GRCm39) |
missense |
probably null |
|
R7248:Ncor1
|
UTSW |
11 |
62,275,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7352:Ncor1
|
UTSW |
11 |
62,224,737 (GRCm39) |
missense |
probably damaging |
0.99 |
R7396:Ncor1
|
UTSW |
11 |
62,234,044 (GRCm39) |
missense |
probably damaging |
0.99 |
R7434:Ncor1
|
UTSW |
11 |
62,274,025 (GRCm39) |
missense |
probably damaging |
0.99 |
R7552:Ncor1
|
UTSW |
11 |
62,264,250 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7565:Ncor1
|
UTSW |
11 |
62,292,091 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CATCCTTGTCCGAGGCAATTTG -3'
(R):5'- TACAACACTGCTGCGGATGC -3'
Sequencing Primer
(F):5'- CACGTCTATGAAGTTAGCTGCAG -3'
(R):5'- GATGCCCTGGCTGCTCTTG -3'
|
Posted On |
2019-11-26 |