Incidental Mutation 'IGL02075:Coro1c'
| ID |
185963 |
| 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 # |
IGL02075
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
113980500-114046767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 113982454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 461
(R461S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004646]
[ENSMUST00000164980]
|
| AlphaFold |
Q9WUM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004646
AA Change: R461S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004646
Gene: ENSMUSG00000004530
AA Change: R461S
| 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 |
noncoding transcript
Transcript: ENSMUST00000111283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163995
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000166047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168634
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429P17Rik |
A |
G |
13: 48,114,224 (GRCm39) |
|
noncoding transcript |
Het |
| Abcd4 |
A |
T |
12: 84,655,578 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
T |
4: 156,254,667 (GRCm39) |
M1548K |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,246,945 (GRCm39) |
S565P |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,438,537 (GRCm39) |
I126M |
probably damaging |
Het |
| Btbd9 |
G |
A |
17: 30,493,910 (GRCm39) |
R494* |
probably null |
Het |
| Gtf2h1 |
A |
G |
7: 46,451,165 (GRCm39) |
K19E |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,077,397 (GRCm39) |
T400A |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,134,379 (GRCm39) |
Y390C |
probably benign |
Het |
| Ly75 |
G |
T |
2: 60,182,700 (GRCm39) |
S534R |
probably damaging |
Het |
| Mapk15 |
A |
G |
15: 75,866,737 (GRCm39) |
E38G |
probably benign |
Het |
| Or9i2 |
T |
A |
19: 13,815,830 (GRCm39) |
T236S |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,528,070 (GRCm39) |
N1924K |
probably benign |
Het |
| Plekhm2 |
T |
A |
4: 141,355,617 (GRCm39) |
H861L |
probably benign |
Het |
| Pramel25 |
T |
A |
4: 143,521,602 (GRCm39) |
F406Y |
probably benign |
Het |
| Rufy4 |
A |
T |
1: 74,168,518 (GRCm39) |
K100N |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,088,496 (GRCm39) |
E879G |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,803,514 (GRCm39) |
N345S |
possibly damaging |
Het |
| Tacc2 |
C |
T |
7: 130,330,582 (GRCm39) |
P1996S |
probably benign |
Het |
| Tfcp2 |
A |
G |
15: 100,411,061 (GRCm39) |
|
probably benign |
Het |
| Trpm8 |
A |
G |
1: 88,253,210 (GRCm39) |
T100A |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,765,304 (GRCm39) |
T2507A |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,517 (GRCm39) |
T332A |
probably benign |
Het |
| Zfp189 |
T |
A |
4: 49,522,445 (GRCm39) |
D27E |
probably damaging |
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 |
|
|
IGL01474:Coro1c
|
APN |
5 |
114,020,216 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation