Incidental Mutation 'R1824:Cic'
| ID |
206673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cic
|
| Ensembl Gene |
ENSMUSG00000005442 |
| Gene Name |
capicua transcriptional repressor |
| Synonyms |
1200010B10Rik |
| MMRRC Submission |
039852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R1824 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24967129-24993584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24987691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 553
(S553P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005578]
[ENSMUST00000163320]
[ENSMUST00000164820]
[ENSMUST00000165239]
[ENSMUST00000169266]
|
| AlphaFold |
Q924A2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005578
AA Change: S553P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005578
Gene: ENSMUSG00000005442
AA Change: S553P
| 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 |
possibly damaging
Transcript: ENSMUST00000163320
AA Change: S553P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126659
Gene: ENSMUSG00000005442
AA Change: S553P
| 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 |
probably benign
Transcript: ENSMUST00000163901
|
| SMART Domains |
Protein: ENSMUSP00000127858
Gene: ENSMUSG00000005442
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
|
| 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 |
probably benign
Transcript: ENSMUST00000165239
AA Change: S553P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000128071
Gene: ENSMUSG00000005442
AA Change: S553P
| 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 |
probably damaging
Transcript: ENSMUST00000169266
AA Change: S1460P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132351
Gene: ENSMUSG00000005442
AA Change: S1460P
| 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: ENSMUST00000168956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165742
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| 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: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
C |
10: 70,708,086 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm1 |
C |
A |
3: 59,840,001 (GRCm39) |
Y24* |
probably null |
Het |
| Abl1 |
T |
A |
2: 31,690,656 (GRCm39) |
M706K |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,813,536 (GRCm39) |
T401A |
probably benign |
Het |
| Acd |
A |
G |
8: 106,427,122 (GRCm39) |
L96P |
probably damaging |
Het |
| Arsi |
T |
A |
18: 61,045,369 (GRCm39) |
W20R |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asic3 |
C |
T |
5: 24,618,749 (GRCm39) |
Q14* |
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,655,125 (GRCm39) |
I1045N |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,818,474 (GRCm39) |
I2149T |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,025 (GRCm39) |
|
probably null |
Het |
| Brca2 |
C |
T |
5: 150,460,387 (GRCm39) |
T554I |
possibly damaging |
Het |
| Brd10 |
T |
C |
19: 29,693,814 (GRCm39) |
N1960S |
probably damaging |
Het |
| C1s2 |
C |
T |
6: 124,612,641 (GRCm39) |
V11I |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,260,990 (GRCm39) |
F1333L |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,201,521 (GRCm39) |
T662A |
possibly damaging |
Het |
| Cep164 |
C |
T |
9: 45,690,226 (GRCm39) |
V1367M |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,219,518 (GRCm39) |
A1316S |
probably benign |
Het |
| Cilk1 |
T |
A |
9: 78,065,144 (GRCm39) |
D351E |
probably benign |
Het |
| Clcn2 |
C |
T |
16: 20,534,712 (GRCm39) |
A12T |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,532,081 (GRCm39) |
Y540H |
probably benign |
Het |
| Coil |
A |
G |
11: 88,872,923 (GRCm39) |
N428S |
possibly damaging |
Het |
| Cpxm1 |
A |
C |
2: 130,237,617 (GRCm39) |
V196G |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,839,624 (GRCm39) |
V601A |
probably damaging |
Het |
| Cyp3a25 |
T |
A |
5: 145,921,763 (GRCm39) |
K390N |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,535,150 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
G |
C |
9: 64,766,640 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
T |
C |
14: 24,199,512 (GRCm39) |
H1464R |
probably benign |
Het |
| Dmac2 |
T |
G |
7: 25,324,217 (GRCm39) |
M225R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,950,154 (GRCm39) |
V1991A |
possibly damaging |
Het |
| Dscam |
A |
C |
16: 96,626,781 (GRCm39) |
V376G |
probably benign |
Het |
| Dync1li1 |
A |
G |
9: 114,538,252 (GRCm39) |
D203G |
probably benign |
Het |
| Eva1c |
A |
G |
16: 90,663,331 (GRCm39) |
T22A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,029 (GRCm39) |
D149G |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,918,547 (GRCm39) |
I3528F |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,063,389 (GRCm39) |
D360G |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 74,016,934 (GRCm39) |
T41A |
probably benign |
Het |
| Gdf3 |
T |
A |
6: 122,586,921 (GRCm39) |
Q2L |
probably benign |
Het |
| Glrp1 |
A |
G |
1: 88,437,511 (GRCm39) |
|
probably null |
Het |
| Gm3336 |
C |
G |
8: 71,173,066 (GRCm39) |
|
probably null |
Het |
| Gm8674 |
C |
T |
13: 50,054,844 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat1 |
A |
G |
9: 107,553,774 (GRCm39) |
Y226H |
probably damaging |
Het |
| Grk5 |
T |
C |
19: 61,078,410 (GRCm39) |
V489A |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,925,719 (GRCm39) |
Y1C |
probably null |
Het |
| Igfbpl1 |
C |
A |
4: 45,826,406 (GRCm39) |
A130S |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,205,087 (GRCm39) |
D261V |
probably benign |
Het |
| Itgal |
T |
A |
7: 126,913,232 (GRCm39) |
S610T |
probably damaging |
Het |
| Jcad |
A |
G |
18: 4,649,293 (GRCm39) |
T55A |
probably benign |
Het |
| Jup |
G |
A |
11: 100,264,963 (GRCm39) |
R663* |
probably null |
Het |
| Kalrn |
C |
T |
16: 34,114,585 (GRCm39) |
G556D |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,020 (GRCm39) |
E411G |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,520 (GRCm39) |
E334G |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,057,585 (GRCm39) |
E302G |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,676,620 (GRCm39) |
V913A |
possibly damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,060 (GRCm39) |
|
probably null |
Het |
| Muc4 |
G |
T |
16: 32,576,307 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,489,945 (GRCm39) |
V953A |
possibly damaging |
Het |
| Myo3a |
G |
A |
2: 22,401,054 (GRCm39) |
V600I |
probably benign |
Het |
| Ndufv3 |
G |
A |
17: 31,750,219 (GRCm39) |
R467Q |
probably damaging |
Het |
| Ngef |
A |
G |
1: 87,430,986 (GRCm39) |
|
probably null |
Het |
| Nisch |
A |
T |
14: 30,898,389 (GRCm39) |
|
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,069,955 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,867,223 (GRCm39) |
S154T |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,885,658 (GRCm39) |
|
probably benign |
Het |
| Or2t1 |
T |
A |
14: 14,328,774 (GRCm38) |
L221Q |
probably damaging |
Het |
| Or4a74 |
G |
T |
2: 89,439,693 (GRCm39) |
P251H |
probably damaging |
Het |
| Or6c219 |
T |
C |
10: 129,781,206 (GRCm39) |
M242V |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,615,692 (GRCm39) |
N1869S |
probably benign |
Het |
| Phf24 |
G |
T |
4: 42,934,661 (GRCm39) |
C136F |
probably damaging |
Het |
| Phldb2 |
A |
T |
16: 45,646,374 (GRCm39) |
V65E |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,417,681 (GRCm39) |
G2490V |
probably damaging |
Het |
| Prl8a8 |
A |
T |
13: 27,692,433 (GRCm39) |
M186K |
probably damaging |
Het |
| Qars1 |
T |
C |
9: 108,391,809 (GRCm39) |
V70A |
probably damaging |
Het |
| Rac1 |
C |
T |
5: 143,502,980 (GRCm39) |
V14I |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,652,419 (GRCm39) |
|
probably null |
Het |
| Slc16a12 |
G |
A |
19: 34,648,278 (GRCm39) |
T405M |
possibly damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,311,294 (GRCm39) |
Y336C |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,505,395 (GRCm39) |
L441P |
probably damaging |
Het |
| Slc45a2 |
T |
C |
15: 11,022,172 (GRCm39) |
S305P |
probably damaging |
Het |
| Sod3 |
G |
T |
5: 52,525,504 (GRCm39) |
V68L |
probably benign |
Het |
| Sp1 |
T |
G |
15: 102,339,438 (GRCm39) |
S773A |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,200,096 (GRCm39) |
G2821C |
probably damaging |
Het |
| Tagap1 |
A |
G |
17: 7,223,425 (GRCm39) |
S424P |
probably benign |
Het |
| Tbc1d22a |
T |
C |
15: 86,119,770 (GRCm39) |
V22A |
possibly damaging |
Het |
| Tfec |
C |
T |
6: 16,840,467 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
A |
T |
6: 12,409,041 (GRCm39) |
|
probably null |
Het |
| Tnfsf15 |
C |
A |
4: 63,651,588 (GRCm39) |
G112V |
probably benign |
Het |
| Tnfsf9 |
A |
G |
17: 57,412,738 (GRCm39) |
T103A |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,911,307 (GRCm39) |
R1537* |
probably null |
Het |
| Tpra1 |
A |
G |
6: 88,888,805 (GRCm39) |
N329S |
probably benign |
Het |
| Ttc12 |
A |
G |
9: 49,368,184 (GRCm39) |
F281S |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,025,579 (GRCm39) |
N322S |
probably damaging |
Het |
| Unk |
G |
T |
11: 115,921,268 (GRCm39) |
|
probably benign |
Het |
| Usp4 |
G |
T |
9: 108,225,207 (GRCm39) |
G31W |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,853,331 (GRCm39) |
A543D |
possibly damaging |
Het |
| Vil1 |
A |
C |
1: 74,457,606 (GRCm39) |
I80L |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,208,593 (GRCm39) |
G51S |
probably benign |
Het |
| Vpreb1a |
A |
G |
16: 16,686,935 (GRCm39) |
|
probably null |
Het |
| Zbtb6 |
C |
T |
2: 37,319,829 (GRCm39) |
C33Y |
probably damaging |
Het |
| Zfp330 |
A |
T |
8: 83,492,644 (GRCm39) |
C189* |
probably null |
Het |
| Zfp942 |
T |
A |
17: 22,147,522 (GRCm39) |
H369L |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,211,361 (GRCm39) |
I149K |
probably benign |
Het |
| Zfyve19 |
G |
A |
2: 119,042,016 (GRCm39) |
V162M |
probably benign |
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 |
|
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 |
|
|
R4989:Cic
|
UTSW |
7 |
24,986,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATAGGGGTTCAGCTGCCTAC -3'
(R):5'- AGGCTACCAACACTTTCAGG -3'
Sequencing Primer
(F):5'- TTAACCCAGGGCTTTGGC -3'
(R):5'- TCAGGTCTCTTGCGCCGAAAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation