Incidental Mutation 'R4989:Cic'
| ID |
386033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cic
|
| Ensembl Gene |
ENSMUSG00000005442 |
| Gene Name |
capicua transcriptional repressor |
| Synonyms |
1200010B10Rik |
| MMRRC Submission |
042583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R4989 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24967129-24993584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24986535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 1289
(G1289C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005578]
[ENSMUST00000163320]
[ENSMUST00000164820]
[ENSMUST00000165239]
[ENSMUST00000169266]
|
| AlphaFold |
Q924A2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005578
AA Change: G382C
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000005578
Gene: ENSMUSG00000005442
AA Change: G382C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J2L|D
|
21 |
48 |
6e-12 |
PDB |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
HMG
|
199 |
269 |
1.24e-17 |
SMART |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1155 |
N/A |
INTRINSIC |
|
low complexity region
|
1223 |
1253 |
N/A |
INTRINSIC |
|
low complexity region
|
1280 |
1313 |
N/A |
INTRINSIC |
|
low complexity region
|
1405 |
1418 |
N/A |
INTRINSIC |
|
low complexity region
|
1483 |
1494 |
N/A |
INTRINSIC |
|
low complexity region
|
1524 |
1547 |
N/A |
INTRINSIC |
|
low complexity region
|
1568 |
1603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163320
AA Change: G382C
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126659
Gene: ENSMUSG00000005442
AA Change: G382C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J2L|D
|
21 |
48 |
6e-12 |
PDB |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
HMG
|
199 |
269 |
1.24e-17 |
SMART |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1064 |
1079 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1134 |
1154 |
N/A |
INTRINSIC |
|
low complexity region
|
1222 |
1252 |
N/A |
INTRINSIC |
|
low complexity region
|
1279 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1405 |
1418 |
N/A |
INTRINSIC |
|
low complexity region
|
1483 |
1494 |
N/A |
INTRINSIC |
|
low complexity region
|
1524 |
1547 |
N/A |
INTRINSIC |
|
low complexity region
|
1568 |
1603 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164440
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164820
|
| SMART Domains |
Protein: ENSMUSP00000130146
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165239
AA Change: G382C
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128071
Gene: ENSMUSG00000005442
AA Change: G382C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4J2L|D
|
21 |
48 |
5e-12 |
PDB |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
HMG
|
199 |
269 |
1.24e-17 |
SMART |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167379
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169266
AA Change: G1289C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132351
Gene: ENSMUSG00000005442
AA Change: G1289C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
|
Pfam:DUF4819
|
249 |
346 |
1.8e-23 |
PFAM |
|
low complexity region
|
351 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
858 |
883 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
911 |
N/A |
INTRINSIC |
|
PDB:4J2L|D
|
930 |
955 |
5e-10 |
PDB |
|
low complexity region
|
1013 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1045 |
N/A |
INTRINSIC |
|
HMG
|
1106 |
1176 |
1.24e-17 |
SMART |
|
low complexity region
|
1322 |
1338 |
N/A |
INTRINSIC |
|
low complexity region
|
1380 |
1393 |
N/A |
INTRINSIC |
|
low complexity region
|
1415 |
1428 |
N/A |
INTRINSIC |
|
low complexity region
|
1432 |
1462 |
N/A |
INTRINSIC |
|
low complexity region
|
1474 |
1490 |
N/A |
INTRINSIC |
|
low complexity region
|
1552 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1636 |
1647 |
N/A |
INTRINSIC |
|
low complexity region
|
1689 |
1710 |
N/A |
INTRINSIC |
|
low complexity region
|
1744 |
1766 |
N/A |
INTRINSIC |
|
low complexity region
|
1846 |
1858 |
N/A |
INTRINSIC |
|
low complexity region
|
1971 |
1986 |
N/A |
INTRINSIC |
|
low complexity region
|
2024 |
2038 |
N/A |
INTRINSIC |
|
low complexity region
|
2041 |
2061 |
N/A |
INTRINSIC |
|
low complexity region
|
2129 |
2159 |
N/A |
INTRINSIC |
|
low complexity region
|
2186 |
2219 |
N/A |
INTRINSIC |
|
low complexity region
|
2311 |
2324 |
N/A |
INTRINSIC |
|
low complexity region
|
2389 |
2400 |
N/A |
INTRINSIC |
|
low complexity region
|
2430 |
2453 |
N/A |
INTRINSIC |
|
low complexity region
|
2474 |
2509 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168956
|
| Meta Mutation Damage Score |
0.0897 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (115/115) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit partial postnatal lethality, decreased body size, and severe lung alveolarization defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(61) : Targeted, other(4) Gene trapped(57)
|
| Other mutations in this stock |
Total: 114 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Acot6 |
A |
G |
12: 84,155,789 (GRCm39) |
K246E |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,808,615 (GRCm39) |
H979Q |
probably damaging |
Het |
| Adal |
T |
A |
2: 120,986,030 (GRCm39) |
|
probably benign |
Het |
| Add2 |
G |
A |
6: 86,087,840 (GRCm39) |
V596I |
probably benign |
Het |
| Adrb3 |
A |
C |
8: 27,717,798 (GRCm39) |
M217R |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,631,134 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,757,094 (GRCm39) |
N1054K |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,763,217 (GRCm39) |
Y504C |
probably damaging |
Het |
| Ankrd29 |
T |
C |
18: 12,395,242 (GRCm39) |
K217R |
probably damaging |
Het |
| Ankrd45 |
T |
C |
1: 160,982,876 (GRCm39) |
V129A |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,275,835 (GRCm39) |
D389V |
probably benign |
Het |
| Aph1a |
G |
T |
3: 95,802,843 (GRCm39) |
G148W |
probably damaging |
Het |
| Arhgef26 |
G |
A |
3: 62,247,806 (GRCm39) |
D297N |
possibly damaging |
Het |
| Atxn7l3b |
C |
A |
10: 112,764,649 (GRCm39) |
|
probably benign |
Het |
| Auh |
A |
G |
13: 52,995,065 (GRCm39) |
S167P |
probably damaging |
Het |
| Bach1 |
A |
T |
16: 87,515,888 (GRCm39) |
K143I |
possibly damaging |
Het |
| Bbx |
T |
A |
16: 50,045,101 (GRCm39) |
T487S |
probably damaging |
Het |
| Bche |
T |
G |
3: 73,609,177 (GRCm39) |
D83A |
probably benign |
Het |
| Bri3bp |
G |
T |
5: 125,518,760 (GRCm39) |
|
probably benign |
Het |
| Cd3d |
A |
T |
9: 44,896,296 (GRCm39) |
E28D |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,965,366 (GRCm39) |
T1028A |
probably damaging |
Het |
| Ceacam23 |
A |
G |
7: 17,639,143 (GRCm39) |
|
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,319,945 (GRCm39) |
I956V |
possibly damaging |
Het |
| Cep95 |
A |
T |
11: 106,707,480 (GRCm39) |
|
probably null |
Het |
| Cndp1 |
A |
G |
18: 84,650,025 (GRCm39) |
Y223H |
probably damaging |
Het |
| Cops8 |
A |
G |
1: 90,538,724 (GRCm39) |
D51G |
probably damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,623 (GRCm39) |
E194G |
probably benign |
Het |
| Ctsm |
A |
G |
13: 61,686,776 (GRCm39) |
Y39H |
probably damaging |
Het |
| Dhrs2 |
T |
C |
14: 55,474,722 (GRCm39) |
V119A |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,935,093 (GRCm39) |
M1336K |
probably benign |
Het |
| Dsp |
G |
A |
13: 38,381,678 (GRCm39) |
D2808N |
possibly damaging |
Het |
| Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 87,116,882 (GRCm39) |
N184S |
probably damaging |
Het |
| Erich3 |
C |
T |
3: 154,454,025 (GRCm39) |
T597I |
possibly damaging |
Het |
| F10 |
T |
C |
8: 13,105,698 (GRCm39) |
V421A |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Fcgrt |
C |
T |
7: 44,751,372 (GRCm39) |
G192D |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,798,541 (GRCm39) |
E1184G |
possibly damaging |
Het |
| Garre1 |
A |
C |
7: 33,945,225 (GRCm39) |
Y552D |
probably damaging |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gvin-ps5 |
A |
T |
7: 105,928,664 (GRCm39) |
|
noncoding transcript |
Het |
| Hadh |
A |
T |
3: 131,029,197 (GRCm39) |
L274* |
probably null |
Het |
| Hus1 |
T |
C |
11: 8,956,027 (GRCm39) |
S169G |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,290,554 (GRCm39) |
I3338F |
possibly damaging |
Het |
| Ighv11-1 |
T |
G |
12: 113,945,768 (GRCm39) |
E28D |
probably benign |
Het |
| Kctd9 |
C |
T |
14: 67,966,805 (GRCm39) |
T106I |
probably damaging |
Het |
| Krit1 |
A |
T |
5: 3,872,238 (GRCm39) |
N421I |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,376,677 (GRCm39) |
D1619G |
probably damaging |
Het |
| Lpar6 |
G |
A |
14: 73,476,147 (GRCm39) |
C36Y |
probably damaging |
Het |
| Lrrc37a |
G |
C |
11: 103,347,565 (GRCm39) |
F3043L |
unknown |
Het |
| Lrrc46 |
A |
T |
11: 96,931,765 (GRCm39) |
V19D |
probably damaging |
Het |
| Mapkap1 |
G |
T |
2: 34,471,303 (GRCm39) |
S197I |
probably damaging |
Het |
| Mrps35 |
A |
C |
6: 146,961,645 (GRCm39) |
K173N |
possibly damaging |
Het |
| Mtf2 |
A |
G |
5: 108,220,894 (GRCm39) |
|
probably benign |
Het |
| Ncf1 |
A |
C |
5: 134,252,267 (GRCm39) |
D261E |
probably damaging |
Het |
| Notch1 |
C |
T |
2: 26,371,193 (GRCm39) |
E298K |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,928,274 (GRCm39) |
|
probably benign |
Het |
| Or13a18 |
C |
A |
7: 140,190,304 (GRCm39) |
A75E |
possibly damaging |
Het |
| Or4x13 |
T |
A |
2: 90,231,107 (GRCm39) |
M34K |
probably benign |
Het |
| Or52a33 |
A |
G |
7: 103,289,308 (GRCm39) |
F13S |
probably damaging |
Het |
| Or5k3 |
T |
C |
16: 58,969,981 (GRCm39) |
L256P |
probably damaging |
Het |
| Or5v1 |
G |
T |
17: 37,810,017 (GRCm39) |
L158F |
probably benign |
Het |
| Otud4 |
G |
A |
8: 80,382,318 (GRCm39) |
V176I |
probably damaging |
Het |
| Pakap |
T |
A |
4: 57,856,552 (GRCm39) |
V668E |
probably benign |
Het |
| Papolg |
T |
C |
11: 23,823,919 (GRCm39) |
|
probably null |
Het |
| Pgk2 |
A |
G |
17: 40,518,402 (GRCm39) |
V342A |
probably damaging |
Het |
| Phf2 |
G |
A |
13: 48,961,320 (GRCm39) |
A790V |
unknown |
Het |
| Prkdc |
T |
C |
16: 15,491,861 (GRCm39) |
I602T |
possibly damaging |
Het |
| Prl3d3 |
T |
C |
13: 27,343,072 (GRCm39) |
I86T |
possibly damaging |
Het |
| Prss8 |
G |
T |
7: 127,525,635 (GRCm39) |
Q295K |
probably benign |
Het |
| Ptpre |
C |
T |
7: 135,270,861 (GRCm39) |
H346Y |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,068,702 (GRCm39) |
L282P |
probably benign |
Het |
| Qrfpr |
A |
G |
3: 36,276,285 (GRCm39) |
V35A |
probably damaging |
Het |
| Rpf1 |
A |
G |
3: 146,212,293 (GRCm39) |
L349S |
probably damaging |
Het |
| Rpl41 |
G |
T |
10: 128,384,652 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
G |
C |
3: 95,672,632 (GRCm39) |
R924G |
probably benign |
Het |
| Serpini1 |
T |
A |
3: 75,521,795 (GRCm39) |
N95K |
probably benign |
Het |
| Sfxn1 |
A |
T |
13: 54,242,933 (GRCm39) |
T64S |
probably benign |
Het |
| Siae |
T |
G |
9: 37,557,816 (GRCm39) |
I541S |
possibly damaging |
Het |
| Slc25a4 |
T |
A |
8: 46,660,509 (GRCm39) |
K296N |
probably benign |
Het |
| Slc37a1 |
A |
G |
17: 31,541,120 (GRCm39) |
N204S |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,413,800 (GRCm39) |
N976S |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,672,019 (GRCm39) |
S847P |
possibly damaging |
Het |
| Smg1 |
A |
T |
7: 117,757,323 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
C |
T |
7: 117,807,274 (GRCm39) |
A168T |
probably benign |
Het |
| Sptlc1 |
A |
G |
13: 53,505,692 (GRCm39) |
I242T |
probably damaging |
Het |
| St8sia2 |
T |
C |
7: 73,616,709 (GRCm39) |
I89V |
possibly damaging |
Het |
| Supt20 |
A |
T |
3: 54,602,555 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,076,457 (GRCm39) |
D1659G |
probably benign |
Het |
| Tex10 |
C |
A |
4: 48,458,525 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
CAGAAG |
CAG |
3: 89,130,409 (GRCm39) |
|
probably benign |
Het |
| Tmbim6 |
C |
A |
15: 99,299,950 (GRCm39) |
S22* |
probably null |
Het |
| Tmc2 |
A |
T |
2: 130,043,961 (GRCm39) |
K65M |
possibly damaging |
Het |
| Tmod1 |
A |
G |
4: 46,090,872 (GRCm39) |
S142G |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trmt6 |
T |
C |
2: 132,650,191 (GRCm39) |
R349G |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,537,586 (GRCm39) |
T26454S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,605,122 (GRCm39) |
V16555I |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,384,042 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,850,790 (GRCm39) |
|
probably benign |
Het |
| Vmn1r17 |
A |
C |
6: 57,337,460 (GRCm39) |
F253V |
possibly damaging |
Het |
| Vmn1r201 |
G |
T |
13: 22,659,622 (GRCm39) |
A279S |
possibly damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,739 (GRCm39) |
R203S |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,633,926 (GRCm39) |
E43G |
probably benign |
Het |
| Wdr86 |
C |
T |
5: 24,917,843 (GRCm39) |
|
probably null |
Het |
| Wdsub1 |
A |
T |
2: 59,700,758 (GRCm39) |
|
probably benign |
Het |
| Zcchc7 |
T |
C |
4: 44,931,039 (GRCm39) |
L76P |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,566,992 (GRCm39) |
C148R |
probably damaging |
Het |
| Zfp687 |
A |
C |
3: 94,917,697 (GRCm39) |
F692V |
probably damaging |
Het |
|
| Other mutations in Cic |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Cic
|
APN |
7 |
24,991,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01668:Cic
|
APN |
7 |
24,990,629 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02229:Cic
|
APN |
7 |
24,990,375 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02506:Cic
|
APN |
7 |
24,990,282 (GRCm39) |
missense |
probably benign |
|
|
IGL02794:Cic
|
APN |
7 |
24,985,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Cic
|
APN |
7 |
24,985,246 (GRCm39) |
splice site |
probably benign |
|
|
IGL03304:Cic
|
APN |
7 |
24,984,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Capuccino
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Cassock
|
UTSW |
7 |
24,988,338 (GRCm39) |
nonsense |
probably null |
|
|
Monkey
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850_Cic_466
|
UTSW |
7 |
24,972,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
1mM(1):Cic
|
UTSW |
7 |
24,990,214 (GRCm39) |
splice site |
probably benign |
|
|
IGL03046:Cic
|
UTSW |
7 |
24,990,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0027:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0038:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0063:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0064:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0118:Cic
|
UTSW |
7 |
24,985,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0241:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0377:Cic
|
UTSW |
7 |
24,985,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0462:Cic
|
UTSW |
7 |
24,986,565 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0462:Cic
|
UTSW |
7 |
24,986,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0800:Cic
|
UTSW |
7 |
24,984,662 (GRCm39) |
missense |
probably benign |
|
|
R1253:Cic
|
UTSW |
7 |
24,990,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Cic
|
UTSW |
7 |
24,979,162 (GRCm39) |
intron |
probably benign |
|
|
R1462:Cic
|
UTSW |
7 |
24,971,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1462:Cic
|
UTSW |
7 |
24,971,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1519:Cic
|
UTSW |
7 |
24,993,235 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1586:Cic
|
UTSW |
7 |
24,985,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Cic
|
UTSW |
7 |
24,987,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Cic
|
UTSW |
7 |
24,986,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Cic
|
UTSW |
7 |
24,970,961 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2063:Cic
|
UTSW |
7 |
24,972,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2161:Cic
|
UTSW |
7 |
24,987,559 (GRCm39) |
splice site |
probably null |
|
|
R2495:Cic
|
UTSW |
7 |
24,991,201 (GRCm39) |
splice site |
probably benign |
|
|
R2865:Cic
|
UTSW |
7 |
24,972,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3692:Cic
|
UTSW |
7 |
24,988,338 (GRCm39) |
nonsense |
probably null |
|
|
R3709:Cic
|
UTSW |
7 |
24,986,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3710:Cic
|
UTSW |
7 |
24,986,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3872:Cic
|
UTSW |
7 |
24,971,124 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3946:Cic
|
UTSW |
7 |
24,971,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4199:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
frame shift |
probably null |
|
|
R4426:Cic
|
UTSW |
7 |
24,993,433 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4502:Cic
|
UTSW |
7 |
24,987,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Cic
|
UTSW |
7 |
24,972,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4586:Cic
|
UTSW |
7 |
24,972,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4614:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
frame shift |
probably null |
|
|
R4664:Cic
|
UTSW |
7 |
24,990,099 (GRCm39) |
small deletion |
probably benign |
|
|
R4688:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
frame shift |
probably null |
|
|
R4695:Cic
|
UTSW |
7 |
24,973,013 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4696:Cic
|
UTSW |
7 |
24,987,908 (GRCm39) |
missense |
probably benign |
|
|
R4746:Cic
|
UTSW |
7 |
24,987,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Cic
|
UTSW |
7 |
24,991,636 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4767:Cic
|
UTSW |
7 |
24,971,025 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4776:Cic
|
UTSW |
7 |
24,982,308 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4820:Cic
|
UTSW |
7 |
24,971,157 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4850:Cic
|
UTSW |
7 |
24,972,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4851:Cic
|
UTSW |
7 |
24,972,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4922:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
small insertion |
probably benign |
|
|
R5131:Cic
|
UTSW |
7 |
24,991,095 (GRCm39) |
small insertion |
probably benign |
|
|
R5718:Cic
|
UTSW |
7 |
24,972,203 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5801:Cic
|
UTSW |
7 |
24,970,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5949:Cic
|
UTSW |
7 |
24,971,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Cic
|
UTSW |
7 |
24,971,423 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6246:Cic
|
UTSW |
7 |
24,971,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Cic
|
UTSW |
7 |
24,985,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Cic
|
UTSW |
7 |
24,972,248 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6481:Cic
|
UTSW |
7 |
24,987,706 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6919:Cic
|
UTSW |
7 |
24,971,202 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6920:Cic
|
UTSW |
7 |
24,990,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Cic
|
UTSW |
7 |
24,970,736 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7002:Cic
|
UTSW |
7 |
24,971,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7113:Cic
|
UTSW |
7 |
24,972,869 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7560:Cic
|
UTSW |
7 |
24,972,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7680:Cic
|
UTSW |
7 |
24,991,856 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7698:Cic
|
UTSW |
7 |
24,972,597 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7746:Cic
|
UTSW |
7 |
24,988,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Cic
|
UTSW |
7 |
24,985,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Cic
|
UTSW |
7 |
24,984,551 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7916:Cic
|
UTSW |
7 |
24,987,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7920:Cic
|
UTSW |
7 |
24,971,384 (GRCm39) |
missense |
probably benign |
|
|
R8056:Cic
|
UTSW |
7 |
24,990,366 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8226:Cic
|
UTSW |
7 |
24,987,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8281:Cic
|
UTSW |
7 |
24,971,249 (GRCm39) |
missense |
probably benign |
|
|
R8847:Cic
|
UTSW |
7 |
24,970,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8991:Cic
|
UTSW |
7 |
24,988,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9083:Cic
|
UTSW |
7 |
24,985,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9140:Cic
|
UTSW |
7 |
24,985,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9200:Cic
|
UTSW |
7 |
24,971,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9208:Cic
|
UTSW |
7 |
24,987,502 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9301:Cic
|
UTSW |
7 |
24,991,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Cic
|
UTSW |
7 |
24,971,414 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9569:Cic
|
UTSW |
7 |
24,972,120 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9752:Cic
|
UTSW |
7 |
24,971,403 (GRCm39) |
missense |
probably damaging |
0.96 |
|
V7732:Cic
|
UTSW |
7 |
24,991,670 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cic
|
UTSW |
7 |
24,970,444 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGAGCTCGGACACCAAG -3'
(R):5'- GCTCCTCATCACTGGTCATG -3'
Sequencing Primer
(F):5'- TCGGACACCAAGGTTCCAG -3'
(R):5'- GGTCATGTCCTCACTGGCTG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation