Incidental Mutation 'IGL00924:Ccdc42'
| ID |
28527 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc42
|
| Ensembl Gene |
ENSMUSG00000045915 |
| Gene Name |
coiled-coil domain containing 42 |
| Synonyms |
A530001H01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL00924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
68477863-68488777 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68485447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 191
(I191V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057342
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063006]
[ENSMUST00000102612]
[ENSMUST00000154294]
|
| AlphaFold |
Q5SV66 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063006
AA Change: I191V
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000057342
Gene: ENSMUSG00000045915
AA Change: I191V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4200
|
39 |
169 |
6e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102612
AA Change: I122V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099672
Gene: ENSMUSG00000045915
AA Change: I122V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
92 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154294
AA Change: I269V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114381
Gene: ENSMUSG00000045915
AA Change: I269V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4200
|
44 |
162 |
5.6e-30 |
PFAM |
|
coiled coil region
|
182 |
239 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no overt behavioral deficits. Males exhibit defects in the number and location of the sperm head-tail coupling apparatus, lack flagellated sperm, and are sterile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,255,021 (GRCm39) |
V112A |
probably benign |
Het |
| Atp1a4 |
T |
A |
1: 172,074,339 (GRCm39) |
I305F |
probably damaging |
Het |
| AW209491 |
A |
G |
13: 14,811,660 (GRCm39) |
N171S |
probably damaging |
Het |
| Bank1 |
G |
T |
3: 135,953,395 (GRCm39) |
A120E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,234,087 (GRCm39) |
E206D |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,613,612 (GRCm39) |
K428E |
possibly damaging |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cpm |
T |
G |
10: 117,511,971 (GRCm39) |
I305S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,006,833 (GRCm39) |
T1065A |
unknown |
Het |
| Dlc1 |
A |
T |
8: 37,405,368 (GRCm39) |
S140R |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,653,188 (GRCm39) |
T674A |
probably benign |
Het |
| Dnajc7 |
A |
G |
11: 100,475,111 (GRCm39) |
I437T |
possibly damaging |
Het |
| Entpd5 |
A |
T |
12: 84,433,828 (GRCm39) |
V147E |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,783,510 (GRCm39) |
C30R |
probably benign |
Het |
| Habp4 |
A |
G |
13: 64,321,885 (GRCm39) |
D174G |
probably damaging |
Het |
| Has3 |
T |
C |
8: 107,605,231 (GRCm39) |
F479S |
probably benign |
Het |
| Helb |
T |
A |
10: 119,946,889 (GRCm39) |
K141N |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kdm1b |
G |
A |
13: 47,221,956 (GRCm39) |
R465H |
probably benign |
Het |
| Lrrc57 |
A |
T |
2: 120,436,532 (GRCm39) |
M86K |
possibly damaging |
Het |
| Map7d1 |
A |
G |
4: 126,132,398 (GRCm39) |
V258A |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,882,625 (GRCm39) |
M476L |
probably damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,334,393 (GRCm39) |
F216Y |
probably damaging |
Het |
| Ncan |
T |
A |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Ngdn |
T |
C |
14: 55,260,626 (GRCm39) |
I278T |
probably damaging |
Het |
| Or4c104 |
T |
C |
2: 88,586,500 (GRCm39) |
D173G |
possibly damaging |
Het |
| Or9a4 |
C |
T |
6: 40,548,388 (GRCm39) |
R23C |
probably benign |
Het |
| P4hb |
G |
T |
11: 120,454,644 (GRCm39) |
Q245K |
probably benign |
Het |
| Pcx |
G |
A |
19: 4,670,965 (GRCm39) |
V1089I |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,624 (GRCm39) |
M498K |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,790,601 (GRCm39) |
L1025* |
probably null |
Het |
| Sdhaf2 |
G |
A |
19: 10,494,380 (GRCm39) |
P110S |
probably damaging |
Het |
| Slc22a20 |
T |
C |
19: 6,020,544 (GRCm39) |
K538E |
probably benign |
Het |
| Spag11b |
T |
A |
8: 19,192,656 (GRCm39) |
V78D |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,880,294 (GRCm39) |
C367R |
probably damaging |
Het |
| Unc5a |
G |
A |
13: 55,152,327 (GRCm39) |
E741K |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,891 (GRCm39) |
L668H |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,964,643 (GRCm39) |
T367I |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,942,231 (GRCm39) |
P603S |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,661,723 (GRCm39) |
R577W |
probably damaging |
Het |
|
| Other mutations in Ccdc42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01897:Ccdc42
|
APN |
11 |
68,485,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0153:Ccdc42
|
UTSW |
11 |
68,478,476 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0540:Ccdc42
|
UTSW |
11 |
68,488,536 (GRCm39) |
nonsense |
probably null |
|
|
R0607:Ccdc42
|
UTSW |
11 |
68,488,536 (GRCm39) |
nonsense |
probably null |
|
|
R1619:Ccdc42
|
UTSW |
11 |
68,485,115 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1831:Ccdc42
|
UTSW |
11 |
68,481,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2264:Ccdc42
|
UTSW |
11 |
68,478,477 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6307:Ccdc42
|
UTSW |
11 |
68,479,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6352:Ccdc42
|
UTSW |
11 |
68,485,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6522:Ccdc42
|
UTSW |
11 |
68,479,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Ccdc42
|
UTSW |
11 |
68,485,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7262:Ccdc42
|
UTSW |
11 |
68,485,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7813:Ccdc42
|
UTSW |
11 |
68,488,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7827:Ccdc42
|
UTSW |
11 |
68,485,022 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8246:Ccdc42
|
UTSW |
11 |
68,478,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8874:Ccdc42
|
UTSW |
11 |
68,485,396 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9225:Ccdc42
|
UTSW |
11 |
68,479,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Ccdc42
|
UTSW |
11 |
68,478,017 (GRCm39) |
start gained |
probably benign |
|
|
Z1187:Ccdc42
|
UTSW |
11 |
68,478,017 (GRCm39) |
start gained |
probably benign |
|
|
Z1188:Ccdc42
|
UTSW |
11 |
68,478,017 (GRCm39) |
start gained |
probably benign |
|
|
Z1189:Ccdc42
|
UTSW |
11 |
68,478,017 (GRCm39) |
start gained |
probably benign |
|
|
Z1190:Ccdc42
|
UTSW |
11 |
68,478,017 (GRCm39) |
start gained |
probably benign |
|
|
Z1191:Ccdc42
|
UTSW |
11 |
68,478,017 (GRCm39) |
start gained |
probably benign |
|
|
Z1192:Ccdc42
|
UTSW |
11 |
68,478,017 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation