Incidental Mutation 'R4758:Cic'
| ID |
358318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cic
|
| Ensembl Gene |
ENSMUSG00000005442 |
| Gene Name |
capicua transcriptional repressor |
| Synonyms |
1200010B10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R4758 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24967129-24993584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24991636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1309
(R1309G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005578]
[ENSMUST00000005583]
[ENSMUST00000108410]
[ENSMUST00000148150]
[ENSMUST00000169266]
[ENSMUST00000163320]
[ENSMUST00000164820]
[ENSMUST00000155118]
[ENSMUST00000165239]
|
| AlphaFold |
Q924A2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005578
AA Change: R1310G
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000005578
Gene: ENSMUSG00000005442
AA Change: R1310G
| 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 benign
Transcript: ENSMUST00000005583
|
| SMART Domains |
Protein: ENSMUSP00000005583
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
12 |
203 |
3.8e-13 |
PFAM |
|
Pfam:Lipase_GDSL
|
42 |
209 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108410
|
| SMART Domains |
Protein: ENSMUSP00000104048
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
4 |
151 |
1.2e-23 |
PFAM |
|
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148150
|
| SMART Domains |
Protein: ENSMUSP00000121250
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
43 |
143 |
5.5e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167162
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169266
AA Change: R2216G
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132351
Gene: ENSMUSG00000005442
AA Change: R2216G
| 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: ENSMUST00000167379
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163320
AA Change: R1309G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126659
Gene: ENSMUSG00000005442
AA Change: R1309G
| 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: ENSMUST00000165742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170500
|
| 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: ENSMUST00000155118
|
| SMART Domains |
Protein: ENSMUSP00000120379
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
43 |
149 |
2.2e-12 |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000165239
|
| SMART Domains |
Protein: ENSMUSP00000128071
Gene: ENSMUSG00000005442
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
A |
3: 36,127,754 (GRCm39) |
Y119N |
probably damaging |
Het |
| Actn2 |
T |
A |
13: 12,303,472 (GRCm39) |
K443* |
probably null |
Het |
| Adgrb2 |
A |
G |
4: 129,903,143 (GRCm39) |
N581S |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,487,385 (GRCm39) |
S416T |
probably benign |
Het |
| Alb |
A |
T |
5: 90,616,452 (GRCm39) |
H319L |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,371,741 (GRCm39) |
I802V |
probably benign |
Het |
| Arhgap45 |
G |
A |
10: 79,866,127 (GRCm39) |
G995E |
probably benign |
Het |
| Capn12 |
A |
C |
7: 28,592,148 (GRCm39) |
T689P |
possibly damaging |
Het |
| Cars1 |
T |
C |
7: 143,125,304 (GRCm39) |
S312G |
probably benign |
Het |
| Cast |
T |
A |
13: 74,887,999 (GRCm39) |
D216V |
possibly damaging |
Het |
| Ccdc13 |
C |
T |
9: 121,662,800 (GRCm39) |
E72K |
possibly damaging |
Het |
| Cd300lg |
G |
T |
11: 101,944,417 (GRCm39) |
|
probably null |
Het |
| Cep41 |
A |
G |
6: 30,671,368 (GRCm39) |
|
probably benign |
Het |
| Chrna3 |
A |
G |
9: 54,929,560 (GRCm39) |
Y93H |
probably damaging |
Het |
| Clcnkb |
A |
G |
4: 141,135,160 (GRCm39) |
V526A |
probably benign |
Het |
| Clec4a1 |
G |
T |
6: 122,910,825 (GRCm39) |
V227F |
probably damaging |
Het |
| Cpa5 |
C |
A |
6: 30,615,159 (GRCm39) |
H99N |
possibly damaging |
Het |
| Crem |
C |
A |
18: 3,327,527 (GRCm39) |
C4F |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Decr2 |
C |
A |
17: 26,307,914 (GRCm39) |
E46D |
probably damaging |
Het |
| Dlg1 |
G |
A |
16: 31,610,570 (GRCm39) |
V284I |
possibly damaging |
Het |
| Dnah3 |
T |
C |
7: 119,678,629 (GRCm39) |
E360G |
probably benign |
Het |
| Dnajc1 |
A |
T |
2: 18,313,757 (GRCm39) |
Y121* |
probably null |
Het |
| Dnajc13 |
A |
G |
9: 104,049,773 (GRCm39) |
F1783L |
probably damaging |
Het |
| Eps8l2 |
T |
A |
7: 140,940,286 (GRCm39) |
D505E |
probably damaging |
Het |
| Eral1 |
G |
A |
11: 77,966,425 (GRCm39) |
T251I |
probably benign |
Het |
| Eya3 |
T |
C |
4: 132,422,196 (GRCm39) |
|
probably null |
Het |
| Fam120a |
G |
A |
13: 49,034,333 (GRCm39) |
T1093I |
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,159,458 (GRCm39) |
A2424T |
probably benign |
Het |
| Git2 |
G |
A |
5: 114,868,412 (GRCm39) |
T256M |
probably damaging |
Het |
| Gm9805 |
A |
T |
17: 22,689,871 (GRCm38) |
Y34F |
probably benign |
Het |
| Itgb7 |
T |
G |
15: 102,124,642 (GRCm39) |
T792P |
probably benign |
Het |
| Jakmip1 |
T |
A |
5: 37,285,966 (GRCm39) |
I665N |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,446,635 (GRCm39) |
Y677H |
probably damaging |
Het |
| Klhdc4 |
G |
A |
8: 122,524,783 (GRCm39) |
P382S |
probably benign |
Het |
| Knl1 |
TCC |
TC |
2: 118,902,213 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
T |
A |
1: 193,022,269 (GRCm39) |
M1039K |
possibly damaging |
Het |
| Lipm |
A |
T |
19: 34,078,570 (GRCm39) |
M1L |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,505,290 (GRCm39) |
V2226A |
possibly damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,637 (GRCm39) |
D1360V |
probably benign |
Het |
| Mier2 |
C |
A |
10: 79,386,182 (GRCm39) |
C23F |
probably damaging |
Het |
| Myo1h |
C |
T |
5: 114,487,643 (GRCm39) |
R616C |
probably damaging |
Het |
| Nars2 |
A |
G |
7: 96,622,735 (GRCm39) |
D187G |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,912,824 (GRCm39) |
M988V |
probably benign |
Het |
| Nlrc5 |
C |
A |
8: 95,238,956 (GRCm39) |
Q1465K |
possibly damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,043 (GRCm39) |
F177L |
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,401 (GRCm39) |
F47L |
probably damaging |
Het |
| Oas1f |
A |
G |
5: 120,985,545 (GRCm39) |
E30G |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,894,189 (GRCm39) |
M6689K |
unknown |
Het |
| Obscn |
A |
T |
11: 59,026,743 (GRCm39) |
D153E |
probably damaging |
Het |
| Or52s6 |
A |
C |
7: 103,092,076 (GRCm39) |
C85G |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,882,036 (GRCm39) |
I36K |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,310,383 (GRCm39) |
F535Y |
probably damaging |
Het |
| Pde2a |
C |
T |
7: 101,160,706 (GRCm39) |
R886C |
probably damaging |
Het |
| Pik3ca |
T |
A |
3: 32,492,127 (GRCm39) |
C242S |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,311,674 (GRCm39) |
D1925E |
possibly damaging |
Het |
| Plekhm2 |
A |
T |
4: 141,369,316 (GRCm39) |
Y123N |
possibly damaging |
Het |
| Pomt2 |
A |
T |
12: 87,169,652 (GRCm39) |
V406D |
probably damaging |
Het |
| Ppfia2 |
G |
C |
10: 106,597,978 (GRCm39) |
L180F |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,273,708 (GRCm39) |
T985S |
probably benign |
Het |
| Proc |
T |
A |
18: 32,256,863 (GRCm39) |
Y268F |
probably damaging |
Het |
| Prrc1 |
C |
T |
18: 57,517,320 (GRCm39) |
T365M |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,382,567 (GRCm39) |
D446E |
probably benign |
Het |
| Ribc2 |
T |
A |
15: 85,025,867 (GRCm39) |
L281Q |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,865,907 (GRCm39) |
D385G |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,717,880 (GRCm39) |
S1495P |
possibly damaging |
Het |
| Slc15a3 |
G |
T |
19: 10,831,726 (GRCm39) |
|
probably null |
Het |
| Slc43a3 |
A |
G |
2: 84,774,869 (GRCm39) |
N149S |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,182 (GRCm39) |
Q543R |
probably damaging |
Het |
| Spef1 |
T |
C |
2: 131,014,661 (GRCm39) |
|
probably null |
Het |
| Spns1 |
A |
T |
7: 125,969,966 (GRCm39) |
F478Y |
probably damaging |
Het |
| Srebf2 |
T |
C |
15: 82,080,370 (GRCm39) |
V821A |
probably benign |
Het |
| Stac3 |
A |
G |
10: 127,339,214 (GRCm39) |
M108V |
possibly damaging |
Het |
| Stradb |
A |
G |
1: 59,027,730 (GRCm39) |
T87A |
probably benign |
Het |
| Stxbp5l |
A |
T |
16: 36,954,592 (GRCm39) |
M906K |
probably benign |
Het |
| Tex14 |
T |
C |
11: 87,405,311 (GRCm39) |
V741A |
probably benign |
Het |
| Thoc2l |
A |
C |
5: 104,668,265 (GRCm39) |
E929A |
possibly damaging |
Het |
| Tpo |
C |
A |
12: 30,125,870 (GRCm39) |
G830C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,128,080 (GRCm39) |
C2308* |
probably null |
Het |
| Vmn1r205 |
T |
C |
13: 22,777,016 (GRCm39) |
T29A |
possibly damaging |
Het |
| Vmn1r69 |
G |
A |
7: 10,314,473 (GRCm39) |
T7I |
probably benign |
Het |
| Vmn2r27 |
T |
G |
6: 124,208,596 (GRCm39) |
T50P |
possibly damaging |
Het |
| Wdr83 |
A |
G |
8: 85,801,867 (GRCm39) |
Y302H |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,346,879 (GRCm39) |
E3040V |
probably damaging |
Het |
| Zfp629 |
C |
A |
7: 127,209,758 (GRCm39) |
G684W |
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 |
|
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'- AAGCTCAGTGATCTTGCCTG -3'
(R):5'- AGTCCACTTCTGACAGGACC -3'
Sequencing Primer
(F):5'- AGTGATCTTGCCTGTCCCCAC -3'
(R):5'- AGCAGGGTCACCTCTTTTG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation