Incidental Mutation 'IGL01138:Coro1c'
ID |
51179 |
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 # |
IGL01138
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
113980500-114046767 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 113990222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004646]
[ENSMUST00000164980]
|
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 |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
A |
G |
13: 61,002,673 (GRCm39) |
V27A |
probably benign |
Het |
Abcg5 |
T |
A |
17: 84,972,275 (GRCm39) |
R499S |
possibly damaging |
Het |
Adamts13 |
T |
C |
2: 26,873,054 (GRCm39) |
S341P |
probably damaging |
Het |
Adgrg1 |
T |
A |
8: 95,730,085 (GRCm39) |
C96S |
probably damaging |
Het |
Arhgap44 |
A |
G |
11: 64,932,275 (GRCm39) |
F215S |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,020,039 (GRCm39) |
F400L |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,977,110 (GRCm39) |
E384G |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,585,335 (GRCm39) |
D1314G |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,735,232 (GRCm39) |
I806F |
probably damaging |
Het |
Dnmt3b |
A |
T |
2: 153,503,361 (GRCm39) |
D4V |
probably benign |
Het |
Ermn |
G |
T |
2: 57,942,707 (GRCm39) |
L8M |
possibly damaging |
Het |
F13b |
T |
A |
1: 139,444,950 (GRCm39) |
N533K |
probably damaging |
Het |
Fam171a1 |
T |
C |
2: 3,203,657 (GRCm39) |
V93A |
possibly damaging |
Het |
Gpr107 |
T |
A |
2: 31,062,028 (GRCm39) |
L152Q |
probably benign |
Het |
Guca1a |
C |
A |
17: 47,711,309 (GRCm39) |
E12D |
probably damaging |
Het |
Igtp |
A |
G |
11: 58,096,970 (GRCm39) |
N47S |
possibly damaging |
Het |
Lratd2 |
T |
A |
15: 60,694,967 (GRCm39) |
I260F |
probably damaging |
Het |
Lrrc8e |
A |
G |
8: 4,284,084 (GRCm39) |
N103S |
probably damaging |
Het |
Lsmem1 |
A |
G |
12: 40,230,698 (GRCm39) |
L68P |
probably damaging |
Het |
Maml3 |
A |
G |
3: 51,597,979 (GRCm39) |
S902P |
possibly damaging |
Het |
Mkln1 |
A |
T |
6: 31,409,925 (GRCm39) |
N188Y |
probably damaging |
Het |
Mlxip |
C |
T |
5: 123,588,219 (GRCm39) |
R771W |
probably damaging |
Het |
Myf6 |
T |
C |
10: 107,330,259 (GRCm39) |
R103G |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,314,467 (GRCm39) |
I481K |
probably damaging |
Het |
Nrap |
T |
A |
19: 56,343,970 (GRCm39) |
S645C |
probably damaging |
Het |
Nup205 |
G |
T |
6: 35,185,019 (GRCm39) |
E813* |
probably null |
Het |
Or13c7c |
A |
G |
4: 43,835,617 (GRCm39) |
L291P |
probably damaging |
Het |
Plekhg5 |
C |
T |
4: 152,191,435 (GRCm39) |
R410W |
probably damaging |
Het |
Pnma8b |
C |
A |
7: 16,679,088 (GRCm39) |
T24K |
unknown |
Het |
Polq |
A |
T |
16: 36,866,231 (GRCm39) |
Y476F |
possibly damaging |
Het |
Prkd2 |
T |
C |
7: 16,582,736 (GRCm39) |
S200P |
probably damaging |
Het |
Rif1 |
C |
A |
2: 52,001,534 (GRCm39) |
L1663I |
probably damaging |
Het |
Serpina5 |
A |
G |
12: 104,070,003 (GRCm39) |
Y300C |
possibly damaging |
Het |
Shroom4 |
T |
C |
X: 6,497,257 (GRCm39) |
S806P |
probably damaging |
Het |
Sirpa |
T |
C |
2: 129,472,085 (GRCm39) |
V290A |
probably damaging |
Het |
Slc25a47 |
C |
T |
12: 108,821,948 (GRCm39) |
R246C |
probably damaging |
Het |
Slc9a6 |
A |
G |
X: 55,668,791 (GRCm39) |
D199G |
probably damaging |
Het |
Smarca5 |
T |
A |
8: 81,427,705 (GRCm39) |
K1048M |
possibly damaging |
Het |
Sos2 |
C |
T |
12: 69,663,623 (GRCm39) |
|
probably benign |
Het |
Trpm5 |
T |
A |
7: 142,628,306 (GRCm39) |
M990L |
probably benign |
Het |
Vmn2r99 |
A |
T |
17: 19,602,885 (GRCm39) |
T547S |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,446,916 (GRCm39) |
|
probably benign |
Het |
Zfp994 |
G |
A |
17: 22,421,649 (GRCm39) |
|
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 |
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 |