Incidental Mutation 'IGL01102:Coro1c'
| ID |
51107 |
| 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 # |
IGL01102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
113980500-114046767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113987675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 222
(M222K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004646
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004646]
[ENSMUST00000164980]
|
| AlphaFold |
Q9WUM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004646
AA Change: M222K
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000004646
Gene: ENSMUSG00000004530
AA Change: M222K
| 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: ENSMUST00000166647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172016
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,323,968 (GRCm39) |
|
probably benign |
Het |
| Bloc1s2-ps |
C |
T |
2: 52,509,914 (GRCm39) |
A50V |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,627,240 (GRCm39) |
L435P |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,647,441 (GRCm39) |
D455G |
unknown |
Het |
| Col4a3 |
A |
G |
1: 82,647,976 (GRCm39) |
I496V |
unknown |
Het |
| Dnah5 |
T |
A |
15: 28,410,149 (GRCm39) |
|
probably null |
Het |
| Emc4 |
C |
A |
2: 112,197,871 (GRCm39) |
|
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,738,842 (GRCm39) |
D32G |
possibly damaging |
Het |
| Fhip1a |
A |
G |
3: 85,572,808 (GRCm39) |
|
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,896,828 (GRCm39) |
K559E |
probably damaging |
Het |
| Gckr |
T |
C |
5: 31,466,381 (GRCm39) |
L452P |
probably damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,124 (GRCm39) |
V323A |
probably damaging |
Het |
| Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,841,755 (GRCm39) |
V220A |
probably benign |
Het |
| Hdac6 |
A |
G |
X: 7,813,237 (GRCm39) |
S42P |
probably benign |
Het |
| Hdhd2 |
A |
G |
18: 77,044,607 (GRCm39) |
N128S |
probably damaging |
Het |
| Hsd3b2 |
G |
T |
3: 98,618,995 (GRCm39) |
R317S |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,400,909 (GRCm39) |
I474F |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,255,102 (GRCm39) |
Y954C |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,679,445 (GRCm39) |
F196L |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,852,339 (GRCm39) |
V957A |
possibly damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,125 (GRCm39) |
M167T |
probably damaging |
Het |
| Mterf4 |
C |
T |
1: 93,232,812 (GRCm39) |
R13H |
possibly damaging |
Het |
| Npffr1 |
T |
G |
10: 61,449,987 (GRCm39) |
V87G |
probably damaging |
Het |
| Or5h18 |
G |
A |
16: 58,848,192 (GRCm39) |
P26L |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,692,497 (GRCm39) |
I37V |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,645,423 (GRCm39) |
L386P |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,799,653 (GRCm39) |
I708T |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,090,195 (GRCm39) |
I412V |
probably benign |
Het |
| Ramp2 |
T |
A |
11: 101,138,453 (GRCm39) |
Y85N |
probably benign |
Het |
| Rnf217 |
A |
G |
10: 31,484,499 (GRCm39) |
Y228H |
probably damaging |
Het |
| Rock1 |
T |
G |
18: 10,080,502 (GRCm39) |
D1014A |
probably benign |
Het |
| Scyl3 |
T |
A |
1: 163,762,338 (GRCm39) |
C101* |
probably null |
Het |
| Sema6b |
G |
T |
17: 56,439,761 (GRCm39) |
L27I |
possibly damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,400,369 (GRCm39) |
V97A |
probably benign |
Het |
| Strc |
C |
A |
2: 121,195,541 (GRCm39) |
R1636L |
probably benign |
Het |
| Tm9sf1 |
T |
A |
14: 55,880,224 (GRCm39) |
T58S |
probably damaging |
Het |
| Tmem106c |
T |
C |
15: 97,864,825 (GRCm39) |
Y85H |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,990,811 (GRCm39) |
|
probably null |
Het |
| Vps13a |
A |
G |
19: 16,628,781 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
T |
7: 42,263,333 (GRCm39) |
L168* |
probably null |
Het |
|
| Other mutations in Coro1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Coro1c
|
APN |
5 |
113,990,222 (GRCm39) |
splice site |
probably benign |
|
|
IGL01474:Coro1c
|
APN |
5 |
114,020,216 (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 |
2013-06-21 |
Incidental Mutation