Incidental Mutation 'IGL02831:Coro1c'
ID |
361426 |
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 # |
IGL02831
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
113980500-114046767 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 113982469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 456
(C456S)
|
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: C456S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000004646 Gene: ENSMUSG00000004530 AA Change: C456S
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
C |
T |
11: 109,943,907 (GRCm39) |
V1121M |
probably damaging |
Het |
Acrbp |
C |
A |
6: 125,038,212 (GRCm39) |
T471N |
possibly damaging |
Het |
Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
Casp7 |
A |
G |
19: 56,392,855 (GRCm39) |
D3G |
probably benign |
Het |
Dlec1 |
T |
G |
9: 118,972,983 (GRCm39) |
L1499R |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,931,250 (GRCm39) |
S1422P |
probably benign |
Het |
Exd1 |
T |
C |
2: 119,359,235 (GRCm39) |
D216G |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,870,080 (GRCm38) |
T130A |
probably benign |
Het |
Frem1 |
A |
T |
4: 82,874,395 (GRCm39) |
M1409K |
probably benign |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Glb1l2 |
A |
G |
9: 26,678,746 (GRCm39) |
V465A |
probably benign |
Het |
Ints8 |
T |
C |
4: 11,245,896 (GRCm39) |
Q194R |
possibly damaging |
Het |
Ip6k2 |
C |
T |
9: 108,681,733 (GRCm39) |
|
probably benign |
Het |
Kctd2 |
T |
A |
11: 115,321,166 (GRCm39) |
*264K |
probably null |
Het |
Krt34 |
C |
A |
11: 99,930,973 (GRCm39) |
|
probably benign |
Het |
Lamc1 |
A |
G |
1: 153,122,801 (GRCm39) |
S760P |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,083,603 (GRCm39) |
N1702S |
probably damaging |
Het |
Lrrc8e |
T |
A |
8: 4,285,429 (GRCm39) |
S551R |
probably damaging |
Het |
Map3k20 |
T |
C |
2: 72,202,071 (GRCm39) |
V139A |
probably damaging |
Het |
Mrtfa |
A |
G |
15: 80,988,994 (GRCm39) |
L9P |
probably benign |
Het |
Napsa |
A |
G |
7: 44,236,184 (GRCm39) |
T408A |
probably benign |
Het |
Or2h15 |
T |
C |
17: 38,441,403 (GRCm39) |
K227E |
probably benign |
Het |
Or2w6 |
T |
C |
13: 21,843,074 (GRCm39) |
I140V |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,780,020 (GRCm39) |
|
probably null |
Het |
Panx1 |
A |
G |
9: 14,918,944 (GRCm39) |
L305P |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,364,889 (GRCm39) |
H676R |
probably benign |
Het |
Pld1 |
T |
A |
3: 28,130,574 (GRCm39) |
V458E |
probably damaging |
Het |
Ppp5c |
A |
G |
7: 16,742,570 (GRCm39) |
L256P |
probably damaging |
Het |
Pyroxd2 |
G |
T |
19: 42,724,342 (GRCm39) |
T307K |
probably damaging |
Het |
Scart1 |
G |
T |
7: 139,808,434 (GRCm39) |
V782L |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,471,190 (GRCm39) |
E379G |
probably damaging |
Het |
Slc22a23 |
T |
C |
13: 34,483,052 (GRCm39) |
T276A |
possibly damaging |
Het |
Slc26a3 |
T |
C |
12: 31,502,628 (GRCm39) |
I283T |
probably damaging |
Het |
Sltm |
A |
G |
9: 70,492,147 (GRCm39) |
D712G |
probably damaging |
Het |
Slu7 |
C |
T |
11: 43,333,480 (GRCm39) |
Q367* |
probably null |
Het |
Srbd1 |
T |
C |
17: 86,311,299 (GRCm39) |
N706S |
probably damaging |
Het |
Supt16 |
A |
T |
14: 52,408,335 (GRCm39) |
M870K |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,922,545 (GRCm39) |
Y2453H |
possibly damaging |
Het |
Tomm40 |
A |
G |
7: 19,437,014 (GRCm39) |
Y274H |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,651,770 (GRCm39) |
D404E |
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,681,344 (GRCm39) |
M84K |
probably benign |
Het |
Wdr70 |
A |
G |
15: 7,913,787 (GRCm39) |
Y621H |
possibly damaging |
Het |
Wfdc8 |
C |
T |
2: 164,447,685 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |
2015-12-18 |