Incidental Mutation 'R1902:Ncor1'
| ID |
212371 |
| 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 |
039922-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1902 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
62207132-62348200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 62228984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 958
(I958S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018645]
[ENSMUST00000037575]
[ENSMUST00000101066]
[ENSMUST00000101067]
[ENSMUST00000155712]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018645
AA Change: I1688S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018645
Gene: ENSMUSG00000018501
AA Change: I1688S
| 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: ENSMUST00000037575
AA Change: I634S
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038900
Gene: ENSMUSG00000018501
AA Change: I634S
| 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 damaging
Transcript: ENSMUST00000101066
AA Change: I1688S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098627
Gene: ENSMUSG00000018501
AA Change: I1688S
| 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: I1621S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098628
Gene: ENSMUSG00000018501
AA Change: I1621S
| 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 damaging
Transcript: ENSMUST00000155712
AA Change: I958S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122654
Gene: ENSMUSG00000018501
AA Change: I958S
| 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: ENSMUST00000156740
AA Change: I623S
|
| SMART Domains |
Protein: ENSMUSP00000125458
Gene: ENSMUSG00000018501
AA Change: I623S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161432
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.7%
|
| 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: 128 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
T |
12: 18,584,004 (GRCm39) |
Q355* |
probably null |
Het |
| Acacb |
A |
T |
5: 114,303,795 (GRCm39) |
R73* |
probably null |
Het |
| Adra1a |
T |
C |
14: 66,875,684 (GRCm39) |
S220P |
probably benign |
Het |
| Ano2 |
A |
T |
6: 125,849,647 (GRCm39) |
E126D |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arhgap45 |
C |
A |
10: 79,861,300 (GRCm39) |
Q488K |
probably damaging |
Het |
| Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
| Atxn7l3b |
A |
G |
10: 112,764,578 (GRCm39) |
I17T |
probably benign |
Het |
| Bpifb9a |
A |
T |
2: 154,103,911 (GRCm39) |
N118I |
probably benign |
Het |
| Btbd9 |
A |
T |
17: 30,749,202 (GRCm39) |
D37E |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,713,798 (GRCm39) |
|
probably null |
Het |
| Capn13 |
G |
A |
17: 73,633,356 (GRCm39) |
S535F |
probably damaging |
Het |
| Carns1 |
G |
T |
19: 4,216,337 (GRCm39) |
P615Q |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,020,652 (GRCm39) |
I479T |
possibly damaging |
Het |
| Ccdc88a |
G |
T |
11: 29,411,788 (GRCm39) |
M532I |
probably benign |
Het |
| Cdc42bpb |
T |
G |
12: 111,292,450 (GRCm39) |
S362R |
probably damaging |
Het |
| Ceacam11 |
A |
T |
7: 17,709,252 (GRCm39) |
H150L |
probably benign |
Het |
| Cfap44 |
A |
C |
16: 44,242,737 (GRCm39) |
T714P |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,469,749 (GRCm39) |
I1369V |
possibly damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,021,867 (GRCm39) |
D92G |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,120,980 (GRCm39) |
|
probably null |
Het |
| Csf1r |
A |
G |
18: 61,263,213 (GRCm39) |
T896A |
probably damaging |
Het |
| Csf3r |
T |
C |
4: 125,936,711 (GRCm39) |
F658S |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,349,329 (GRCm39) |
Y126* |
probably null |
Het |
| Cul7 |
T |
C |
17: 46,966,666 (GRCm39) |
L365P |
probably damaging |
Het |
| Cxcl5 |
T |
C |
5: 90,907,644 (GRCm39) |
V72A |
probably damaging |
Het |
| Cyp4v3 |
T |
A |
8: 45,759,989 (GRCm39) |
H521L |
probably benign |
Het |
| Dct |
T |
C |
14: 118,271,690 (GRCm39) |
N380S |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,041,716 (GRCm39) |
D85G |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,574,637 (GRCm39) |
D1709G |
probably damaging |
Het |
| Dnai1 |
A |
T |
4: 41,625,319 (GRCm39) |
K428* |
probably null |
Het |
| Dsc1 |
A |
T |
18: 20,229,045 (GRCm39) |
V415D |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,520,920 (GRCm39) |
H467R |
probably benign |
Het |
| Eddm3b |
T |
A |
14: 51,354,321 (GRCm39) |
I103N |
probably damaging |
Het |
| Gal3st2c |
T |
G |
1: 93,936,611 (GRCm39) |
N185K |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,276,963 (GRCm39) |
L675P |
probably damaging |
Het |
| Garin3 |
A |
T |
11: 46,297,838 (GRCm39) |
T381S |
probably benign |
Het |
| Gdf9 |
G |
A |
11: 53,327,780 (GRCm39) |
M245I |
probably benign |
Het |
| Gm21886 |
G |
A |
18: 80,132,633 (GRCm39) |
T175I |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,629,415 (GRCm39) |
L269P |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,429,481 (GRCm39) |
Y471C |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,198,669 (GRCm39) |
T825S |
probably benign |
Het |
| H2-T13 |
A |
T |
17: 36,394,845 (GRCm39) |
M16K |
probably damaging |
Het |
| Iffo2 |
T |
C |
4: 139,335,012 (GRCm39) |
S124P |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,850,997 (GRCm39) |
Y931H |
possibly damaging |
Het |
| Il22ra1 |
A |
T |
4: 135,478,219 (GRCm39) |
Q430L |
probably damaging |
Het |
| Il23r |
A |
C |
6: 67,400,718 (GRCm39) |
D537E |
probably benign |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Itgb4 |
T |
C |
11: 115,871,564 (GRCm39) |
V179A |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,131,201 (GRCm39) |
H1968L |
probably damaging |
Het |
| Kdm4a |
A |
G |
4: 118,017,596 (GRCm39) |
V490A |
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,941,638 (GRCm39) |
D946E |
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,589,651 (GRCm39) |
I104N |
probably damaging |
Het |
| Klk6 |
A |
C |
7: 43,475,481 (GRCm39) |
M1L |
probably benign |
Het |
| Krt78 |
A |
T |
15: 101,855,398 (GRCm39) |
C804* |
probably null |
Het |
| Larp7 |
A |
T |
3: 127,334,227 (GRCm39) |
N533K |
probably damaging |
Het |
| Lrit3 |
T |
C |
3: 129,584,895 (GRCm39) |
T288A |
probably benign |
Het |
| Lrp11 |
T |
A |
10: 7,499,544 (GRCm39) |
L245Q |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,750,673 (GRCm39) |
S2964G |
probably damaging |
Het |
| Lrrc66 |
C |
T |
5: 73,764,965 (GRCm39) |
V693M |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,364,958 (GRCm39) |
M3268L |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,289,443 (GRCm39) |
S161P |
possibly damaging |
Het |
| Mettl25 |
A |
G |
10: 105,661,948 (GRCm39) |
S341P |
probably damaging |
Het |
| Morc3 |
A |
G |
16: 93,667,385 (GRCm39) |
T588A |
probably damaging |
Het |
| Mospd3 |
A |
G |
5: 137,598,677 (GRCm39) |
S21P |
probably damaging |
Het |
| Mrpl57 |
T |
A |
14: 58,064,186 (GRCm39) |
F71L |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,470,111 (GRCm39) |
L594S |
probably damaging |
Het |
| Mthfd2 |
T |
C |
6: 83,283,713 (GRCm39) |
N323S |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,417,842 (GRCm39) |
S3596I |
possibly damaging |
Het |
| Mug1 |
A |
G |
6: 121,858,780 (GRCm39) |
D1166G |
probably benign |
Het |
| Nav1 |
T |
G |
1: 135,400,148 (GRCm39) |
N474T |
probably benign |
Het |
| Ncoa1 |
A |
T |
12: 4,389,049 (GRCm39) |
D75E |
possibly damaging |
Het |
| Nefm |
T |
C |
14: 68,361,563 (GRCm39) |
S234G |
probably benign |
Het |
| Nlrp4c |
T |
C |
7: 6,068,818 (GRCm39) |
S240P |
probably damaging |
Het |
| Nox3 |
C |
T |
17: 3,720,292 (GRCm39) |
V298M |
probably damaging |
Het |
| Ntn4 |
A |
G |
10: 93,543,234 (GRCm39) |
D320G |
possibly damaging |
Het |
| Nudt13 |
C |
G |
14: 20,360,709 (GRCm39) |
T174R |
probably damaging |
Het |
| Odr4 |
T |
A |
1: 150,264,360 (GRCm39) |
|
probably null |
Het |
| Opn1sw |
T |
A |
6: 29,379,803 (GRCm39) |
N144Y |
possibly damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,312 (GRCm39) |
H250Q |
probably damaging |
Het |
| Or10g3 |
T |
G |
14: 52,610,174 (GRCm39) |
Q112P |
possibly damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,197 (GRCm39) |
I310V |
probably benign |
Het |
| Or2a52 |
T |
A |
6: 43,144,657 (GRCm39) |
|
probably null |
Het |
| Or4a72 |
A |
T |
2: 89,405,947 (GRCm39) |
L41Q |
possibly damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,526 (GRCm39) |
D18E |
probably benign |
Het |
| Or5g25 |
T |
C |
2: 85,478,201 (GRCm39) |
S155G |
possibly damaging |
Het |
| Or6c216 |
G |
T |
10: 129,678,375 (GRCm39) |
P179T |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,692 (GRCm39) |
V276A |
probably damaging |
Het |
| Or8g4 |
T |
C |
9: 39,662,102 (GRCm39) |
V140A |
probably benign |
Het |
| Osbpl5 |
T |
C |
7: 143,256,918 (GRCm39) |
D404G |
possibly damaging |
Het |
| Parp14 |
C |
T |
16: 35,673,888 (GRCm39) |
|
probably null |
Het |
| Pde3a |
C |
A |
6: 141,444,496 (GRCm39) |
N1101K |
probably benign |
Het |
| Plcb1 |
G |
A |
2: 134,655,533 (GRCm39) |
V38I |
possibly damaging |
Het |
| Plec |
T |
A |
15: 76,059,751 (GRCm39) |
E3417D |
probably damaging |
Het |
| Ppfibp2 |
C |
T |
7: 107,345,585 (GRCm39) |
P869L |
probably damaging |
Het |
| Ppp1r12a |
T |
A |
10: 108,034,752 (GRCm39) |
I99N |
probably damaging |
Het |
| Pramel5 |
G |
A |
4: 144,000,433 (GRCm39) |
Q48* |
probably null |
Het |
| Prr13 |
C |
A |
15: 102,369,133 (GRCm39) |
|
probably benign |
Het |
| Psg22 |
T |
A |
7: 18,458,363 (GRCm39) |
Y312* |
probably null |
Het |
| Ptchd4 |
A |
T |
17: 42,814,507 (GRCm39) |
I803L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,120,092 (GRCm39) |
D56G |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,006,685 (GRCm39) |
N2206K |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,757,092 (GRCm39) |
Q351R |
probably null |
Het |
| Samd4 |
T |
C |
14: 47,311,585 (GRCm39) |
F81S |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,373,559 (GRCm39) |
*909Q |
probably null |
Het |
| Slc25a45 |
A |
G |
19: 5,934,550 (GRCm39) |
R173G |
probably damaging |
Het |
| Smarca1 |
G |
A |
X: 46,938,840 (GRCm39) |
Q723* |
probably null |
Het |
| Smoc1 |
T |
C |
12: 81,151,445 (GRCm39) |
I54T |
probably benign |
Het |
| Spef2 |
G |
T |
15: 9,607,463 (GRCm39) |
R1319S |
probably damaging |
Het |
| Steap3 |
T |
G |
1: 120,169,464 (GRCm39) |
I240L |
probably benign |
Het |
| Stmn4 |
C |
T |
14: 66,593,058 (GRCm39) |
L13F |
probably damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
| Syt3 |
T |
C |
7: 44,039,940 (GRCm39) |
S58P |
possibly damaging |
Het |
| Tas2r125 |
T |
C |
6: 132,887,139 (GRCm39) |
F176L |
probably benign |
Het |
| Tbc1d19 |
T |
A |
5: 53,986,695 (GRCm39) |
C35S |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,486 (GRCm39) |
E422G |
possibly damaging |
Het |
| Tekt4 |
T |
A |
17: 25,690,832 (GRCm39) |
F46Y |
possibly damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,883,937 (GRCm39) |
K148E |
probably benign |
Het |
| Trrap |
T |
G |
5: 144,752,863 (GRCm39) |
I1813R |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 78,978,361 (GRCm39) |
E137G |
probably benign |
Het |
| Tubgcp6 |
C |
A |
15: 89,000,444 (GRCm39) |
R307L |
possibly damaging |
Het |
| Tyro3 |
T |
C |
2: 119,632,176 (GRCm39) |
I81T |
possibly damaging |
Het |
| Upp2 |
T |
G |
2: 58,661,464 (GRCm39) |
M71R |
probably damaging |
Het |
| Utp20 |
G |
T |
10: 88,588,888 (GRCm39) |
T2427K |
probably benign |
Het |
| Vcl |
T |
A |
14: 21,032,767 (GRCm39) |
L122Q |
probably damaging |
Het |
| Vmn1r213 |
A |
C |
13: 23,196,476 (GRCm39) |
N353T |
possibly damaging |
Het |
| Vwa5b2 |
G |
T |
16: 20,423,582 (GRCm39) |
S1165I |
possibly damaging |
Het |
| Zfp869 |
T |
C |
8: 70,160,088 (GRCm39) |
K162E |
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 |
|
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'- AGGCTCCATCAGTCTTGTTAGAG -3'
(R):5'- ATGGAAAACCATGCATACTTCTGG -3'
Sequencing Primer
(F):5'- AAGCAATTTTGTCTGGTGGCATTAC -3'
(R):5'- ACCATGCATACTTCTGGAGTTAGCTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation