Incidental Mutation 'IGL02106:Coro1c'
| ID |
279967 |
| 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 # |
IGL02106
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
113980500-114046767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113990334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 116
(T116A)
|
| 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: T116A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000004646
Gene: ENSMUSG00000004530
AA Change: T116A
| 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
AA Change: T116A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000129314
Gene: ENSMUSG00000004530
AA Change: T116A
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9l |
A |
G |
9: 44,420,496 (GRCm39) |
N1264D |
probably benign |
Het |
| Bmyc |
A |
G |
2: 25,597,082 (GRCm39) |
K49E |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Ceacam2 |
A |
G |
7: 25,230,166 (GRCm39) |
S147P |
probably benign |
Het |
| Cep152 |
G |
T |
2: 125,444,856 (GRCm39) |
|
probably null |
Het |
| Cnbd1 |
G |
T |
4: 18,894,993 (GRCm39) |
P250T |
possibly damaging |
Het |
| Col6a4 |
A |
G |
9: 105,940,304 (GRCm39) |
C1209R |
possibly damaging |
Het |
| Ddx46 |
A |
G |
13: 55,825,416 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
T |
C |
5: 139,137,268 (GRCm39) |
I207T |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,758 (GRCm39) |
D139G |
probably benign |
Het |
| Fbxw22 |
A |
T |
9: 109,231,087 (GRCm39) |
I121N |
possibly damaging |
Het |
| Fcmr |
T |
C |
1: 130,802,872 (GRCm39) |
S162P |
probably benign |
Het |
| Gadl1 |
A |
G |
9: 115,766,225 (GRCm39) |
|
probably benign |
Het |
| Gli2 |
T |
A |
1: 118,764,465 (GRCm39) |
S1229C |
probably benign |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gne |
T |
C |
4: 44,037,306 (GRCm39) |
N692D |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,902,489 (GRCm39) |
T1397A |
possibly damaging |
Het |
| Lama3 |
C |
A |
18: 12,601,371 (GRCm39) |
A1016E |
probably damaging |
Het |
| Lhfpl2 |
A |
G |
13: 94,328,419 (GRCm39) |
D160G |
probably benign |
Het |
| Lmtk2 |
T |
A |
5: 144,112,769 (GRCm39) |
V1163E |
probably benign |
Het |
| Lrrtm2 |
G |
T |
18: 35,345,868 (GRCm39) |
S478* |
probably null |
Het |
| Nfatc2ip |
T |
C |
7: 125,989,736 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
G |
7: 3,282,574 (GRCm39) |
I775T |
probably benign |
Het |
| Npr1 |
A |
G |
3: 90,372,165 (GRCm39) |
F216L |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,617 (GRCm39) |
L225H |
probably damaging |
Het |
| Or5ac24 |
T |
A |
16: 59,165,387 (GRCm39) |
N226Y |
probably benign |
Het |
| Or5b99 |
G |
T |
19: 12,976,929 (GRCm39) |
S193I |
possibly damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,783,800 (GRCm39) |
G2052C |
probably damaging |
Het |
| Ppp1r16b |
A |
G |
2: 158,588,451 (GRCm39) |
N112S |
possibly damaging |
Het |
| Prr11 |
A |
G |
11: 86,994,141 (GRCm39) |
|
probably benign |
Het |
| Scap |
A |
G |
9: 110,210,724 (GRCm39) |
|
probably benign |
Het |
| Sirt1 |
C |
T |
10: 63,171,608 (GRCm39) |
R191Q |
probably damaging |
Het |
| Slc38a6 |
A |
C |
12: 73,397,320 (GRCm39) |
S321R |
possibly damaging |
Het |
| Sp140 |
T |
C |
1: 85,570,940 (GRCm39) |
V460A |
probably benign |
Het |
| Spdye4c |
A |
T |
2: 128,434,586 (GRCm39) |
K54N |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,030,860 (GRCm39) |
N947K |
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,621,598 (GRCm39) |
V965A |
possibly damaging |
Het |
| Tmem209 |
A |
C |
6: 30,508,659 (GRCm39) |
|
probably null |
Het |
| Trim37 |
A |
T |
11: 87,092,230 (GRCm39) |
K123* |
probably null |
Het |
| Trio |
T |
C |
15: 27,744,244 (GRCm39) |
T2563A |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,289,717 (GRCm39) |
S734T |
possibly damaging |
Het |
| Vars2 |
A |
G |
17: 35,975,513 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
G |
A |
9: 95,859,858 (GRCm39) |
E417K |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 20,011,970 (GRCm39) |
V515E |
possibly 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 |
|
|
IGL02075:Coro1c
|
APN |
5 |
113,982,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation