Incidental Mutation 'IGL01474:Coro1c'
| ID |
88404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Coro1c
|
| Ensembl Gene |
ENSMUSG00000004530 |
| Gene Name |
coronin, actin binding protein 1C |
| Synonyms |
coronin 3, CRN2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01474
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
113980500-114046767 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 114020216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004646]
[ENSMUST00000163264]
[ENSMUST00000164980]
[ENSMUST00000168399]
|
| AlphaFold |
Q9WUM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004646
|
| SMART Domains |
Protein: ENSMUSP00000004646
Gene: ENSMUSG00000004530
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
3 |
67 |
2.53e-36 |
SMART |
|
WD40
|
66 |
109 |
3.99e-8 |
SMART |
|
WD40
|
119 |
159 |
1.09e-5 |
SMART |
|
WD40
|
162 |
202 |
3.09e-5 |
SMART |
|
DUF1900
|
256 |
390 |
4.5e-92 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163264
|
| SMART Domains |
Protein: ENSMUSP00000129457
Gene: ENSMUSG00000004530
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
3 |
67 |
2.53e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164980
|
| SMART Domains |
Protein: ENSMUSP00000129314
Gene: ENSMUSG00000004530
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
3 |
67 |
2.53e-36 |
SMART |
|
WD40
|
66 |
109 |
3.99e-8 |
SMART |
|
Pfam:WD40
|
120 |
149 |
8e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168399
|
| SMART Domains |
Protein: ENSMUSP00000132504
Gene: ENSMUSG00000004530
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
3 |
66 |
1.02e-31 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171630
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
T |
13: 91,920,902 (GRCm39) |
K336I |
possibly damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,168,621 (GRCm39) |
I166T |
possibly damaging |
Het |
| Adrm1b |
G |
T |
3: 92,335,650 (GRCm39) |
Q351K |
probably damaging |
Het |
| Bpifc |
T |
A |
10: 85,836,503 (GRCm39) |
M1L |
probably damaging |
Het |
| Ccnb2 |
T |
A |
9: 70,326,305 (GRCm39) |
N44I |
probably benign |
Het |
| Cdc73 |
C |
T |
1: 143,547,070 (GRCm39) |
V276M |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,490 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
T |
A |
3: 114,010,783 (GRCm39) |
|
probably benign |
Het |
| Crocc |
A |
G |
4: 140,762,703 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,102,493 (GRCm39) |
Y396N |
probably benign |
Het |
| Gm2888 |
T |
A |
14: 3,032,041 (GRCm38) |
D116E |
probably damaging |
Het |
| Gm29326 |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
A |
G |
12: 16,734,502 (GRCm39) |
V1496A |
probably benign |
Het |
| H2bc18 |
A |
G |
3: 96,177,125 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,695,820 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,474,712 (GRCm39) |
T2778A |
possibly damaging |
Het |
| Hivep2 |
A |
T |
10: 14,019,406 (GRCm39) |
H2059L |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,715,531 (GRCm39) |
I525F |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,262,697 (GRCm39) |
Q324* |
probably null |
Het |
| Klhl14 |
T |
G |
18: 21,690,911 (GRCm39) |
H513P |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,838,363 (GRCm39) |
D837E |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,237,572 (GRCm39) |
C215F |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,461 (GRCm39) |
K844E |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,917 (GRCm39) |
V31A |
unknown |
Het |
| Nipbl |
A |
G |
15: 8,340,693 (GRCm39) |
I2009T |
possibly damaging |
Het |
| Or2ag18 |
A |
G |
7: 106,405,147 (GRCm39) |
I174T |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,635,667 (GRCm39) |
R536G |
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,232,044 (GRCm39) |
V412A |
probably damaging |
Het |
| Prkaa2 |
A |
C |
4: 104,906,529 (GRCm39) |
|
probably null |
Het |
| Rdh9 |
T |
C |
10: 127,626,814 (GRCm39) |
L289P |
probably damaging |
Het |
| Rusc2 |
C |
T |
4: 43,416,434 (GRCm39) |
S580L |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,858,280 (GRCm39) |
|
probably null |
Het |
| Slc18b1 |
A |
T |
10: 23,679,748 (GRCm39) |
K92N |
probably benign |
Het |
| Slc20a2 |
G |
A |
8: 23,025,573 (GRCm39) |
V92M |
possibly damaging |
Het |
| Slc4a11 |
A |
T |
2: 130,527,464 (GRCm39) |
F644I |
probably damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,878,029 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,663,244 (GRCm39) |
M846V |
probably benign |
Het |
| Syncrip |
T |
C |
9: 88,362,800 (GRCm39) |
T3A |
probably benign |
Het |
|
| Other mutations in Coro1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Coro1c
|
APN |
5 |
113,987,675 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01138:Coro1c
|
APN |
5 |
113,990,222 (GRCm39) |
splice site |
probably benign |
|
|
IGL02075:Coro1c
|
APN |
5 |
113,982,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02106:Coro1c
|
APN |
5 |
113,990,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02831:Coro1c
|
APN |
5 |
113,982,469 (GRCm39) |
missense |
probably benign |
|
|
R0254:Coro1c
|
UTSW |
5 |
113,983,313 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0975:Coro1c
|
UTSW |
5 |
114,020,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Coro1c
|
UTSW |
5 |
113,986,604 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2944:Coro1c
|
UTSW |
5 |
113,988,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5210:Coro1c
|
UTSW |
5 |
113,983,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Coro1c
|
UTSW |
5 |
113,984,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5379:Coro1c
|
UTSW |
5 |
113,983,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Coro1c
|
UTSW |
5 |
113,986,607 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5869:Coro1c
|
UTSW |
5 |
113,988,907 (GRCm39) |
intron |
probably benign |
|
|
R5891:Coro1c
|
UTSW |
5 |
113,988,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7037:Coro1c
|
UTSW |
5 |
113,983,457 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7116:Coro1c
|
UTSW |
5 |
113,990,267 (GRCm39) |
nonsense |
probably null |
|
|
R7536:Coro1c
|
UTSW |
5 |
113,983,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Coro1c
|
UTSW |
5 |
113,986,658 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8043:Coro1c
|
UTSW |
5 |
114,003,820 (GRCm39) |
splice site |
silent |
|
|
R8078:Coro1c
|
UTSW |
5 |
114,020,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8175:Coro1c
|
UTSW |
5 |
113,988,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8267:Coro1c
|
UTSW |
5 |
113,985,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:Coro1c
|
UTSW |
5 |
113,984,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Coro1c
|
UTSW |
5 |
113,988,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9229:Coro1c
|
UTSW |
5 |
114,003,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9355:Coro1c
|
UTSW |
5 |
114,003,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Coro1c
|
UTSW |
5 |
113,983,337 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9502:Coro1c
|
UTSW |
5 |
113,988,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9570:Coro1c
|
UTSW |
5 |
114,003,816 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Coro1c
|
UTSW |
5 |
113,986,655 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1088:Coro1c
|
UTSW |
5 |
113,988,710 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation