Incidental Mutation 'IGL03274:Ccdc62'
ID |
415350 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc62
|
Ensembl Gene |
ENSMUSG00000061882 |
Gene Name |
coiled-coil domain containing 62 |
Synonyms |
repro29, LOC208908, G1-485-3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03274
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
124068742-124107958 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124092743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 576
(N576S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127483
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094320]
[ENSMUST00000165148]
|
AlphaFold |
E9PVD1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094320
AA Change: N576S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000091878 Gene: ENSMUSG00000061882 AA Change: N576S
Domain | Start | End | E-Value | Type |
coiled coil region
|
61 |
197 |
N/A |
INTRINSIC |
coiled coil region
|
241 |
297 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165148
AA Change: N576S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000127483 Gene: ENSMUSG00000061882 AA Change: N576S
Domain | Start | End | E-Value | Type |
coiled coil region
|
61 |
197 |
N/A |
INTRINSIC |
coiled coil region
|
241 |
297 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169898
|
SMART Domains |
Protein: ENSMUSP00000132294 Gene: ENSMUSG00000061882
Domain | Start | End | E-Value | Type |
coiled coil region
|
31 |
55 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171881
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for an ENU-induced mutation or a deletion knockout exhibit male reproductive abnormalities including infertility, low sperm count, abnormal sperm head and tail morphology, very low sperm motility, and low seminal vesicle weight. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adissp |
A |
T |
2: 130,995,512 (GRCm39) |
|
probably null |
Het |
Anln |
C |
A |
9: 22,293,565 (GRCm39) |
R26M |
probably damaging |
Het |
Capn15 |
A |
T |
17: 26,180,812 (GRCm39) |
S753T |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,508,900 (GRCm39) |
D2895G |
probably damaging |
Het |
Dspp |
T |
A |
5: 104,322,814 (GRCm39) |
V37E |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,611,919 (GRCm39) |
D587V |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,752,450 (GRCm39) |
D1473G |
probably damaging |
Het |
Ehhadh |
T |
C |
16: 21,582,090 (GRCm39) |
|
probably benign |
Het |
Fbln1 |
T |
C |
15: 85,116,879 (GRCm39) |
|
probably null |
Het |
Gbp9 |
A |
G |
5: 105,230,652 (GRCm39) |
V424A |
possibly damaging |
Het |
Gda |
T |
C |
19: 21,394,371 (GRCm39) |
Y236C |
possibly damaging |
Het |
Gm4884 |
A |
G |
7: 40,693,969 (GRCm39) |
E646G |
probably damaging |
Het |
Gm4952 |
C |
A |
19: 12,600,960 (GRCm39) |
|
probably benign |
Het |
Gm5422 |
G |
T |
10: 31,126,348 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
C |
T |
6: 135,757,253 (GRCm39) |
D403N |
possibly damaging |
Het |
Hsf2bp |
G |
A |
17: 32,226,744 (GRCm39) |
R204C |
probably damaging |
Het |
Il16 |
T |
C |
7: 83,310,442 (GRCm39) |
E488G |
probably damaging |
Het |
Kat6b |
G |
T |
14: 21,659,831 (GRCm39) |
D212Y |
possibly damaging |
Het |
Kctd2 |
A |
C |
11: 115,320,208 (GRCm39) |
I247L |
possibly damaging |
Het |
Kel |
T |
A |
6: 41,664,929 (GRCm39) |
|
probably null |
Het |
Krt20 |
A |
T |
11: 99,320,855 (GRCm39) |
|
probably benign |
Het |
Litaf |
T |
C |
16: 10,784,433 (GRCm39) |
T26A |
probably damaging |
Het |
N4bp2l2 |
G |
T |
5: 150,584,931 (GRCm39) |
Q350K |
probably damaging |
Het |
Nav2 |
T |
G |
7: 49,011,847 (GRCm39) |
I26S |
probably damaging |
Het |
Nfya |
A |
G |
17: 48,698,375 (GRCm39) |
Y162H |
probably damaging |
Het |
Or2g25 |
C |
T |
17: 37,970,646 (GRCm39) |
A193T |
probably benign |
Het |
Pbx4 |
A |
T |
8: 70,319,200 (GRCm39) |
S244C |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,612,285 (GRCm39) |
V415A |
probably benign |
Het |
Rbbp8 |
A |
G |
18: 11,874,133 (GRCm39) |
|
probably benign |
Het |
Sp100 |
T |
C |
1: 85,635,025 (GRCm39) |
|
probably benign |
Het |
Spag16 |
A |
G |
1: 69,883,540 (GRCm39) |
|
probably benign |
Het |
Star |
A |
G |
8: 26,301,082 (GRCm39) |
D138G |
possibly damaging |
Het |
|
Other mutations in Ccdc62 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01782:Ccdc62
|
APN |
5 |
124,092,639 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02491:Ccdc62
|
APN |
5 |
124,099,378 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02634:Ccdc62
|
APN |
5 |
124,092,320 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02938:Ccdc62
|
APN |
5 |
124,072,247 (GRCm39) |
missense |
probably benign |
0.30 |
IGL03293:Ccdc62
|
APN |
5 |
124,089,288 (GRCm39) |
missense |
possibly damaging |
0.95 |
Condensed
|
UTSW |
5 |
124,072,156 (GRCm39) |
missense |
probably benign |
0.00 |
R0356:Ccdc62
|
UTSW |
5 |
124,092,811 (GRCm39) |
missense |
probably benign |
0.05 |
R3915:Ccdc62
|
UTSW |
5 |
124,092,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R4708:Ccdc62
|
UTSW |
5 |
124,068,925 (GRCm39) |
critical splice donor site |
probably null |
|
R5731:Ccdc62
|
UTSW |
5 |
124,089,352 (GRCm39) |
critical splice donor site |
probably null |
|
R6354:Ccdc62
|
UTSW |
5 |
124,082,267 (GRCm39) |
missense |
probably damaging |
0.96 |
R6681:Ccdc62
|
UTSW |
5 |
124,072,156 (GRCm39) |
missense |
probably benign |
0.00 |
R7340:Ccdc62
|
UTSW |
5 |
124,089,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R8325:Ccdc62
|
UTSW |
5 |
124,092,448 (GRCm39) |
missense |
probably benign |
0.28 |
R8418:Ccdc62
|
UTSW |
5 |
124,084,455 (GRCm39) |
nonsense |
probably null |
|
R8845:Ccdc62
|
UTSW |
5 |
124,092,470 (GRCm39) |
missense |
probably benign |
|
R9217:Ccdc62
|
UTSW |
5 |
124,092,470 (GRCm39) |
missense |
probably benign |
|
R9294:Ccdc62
|
UTSW |
5 |
124,092,772 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9518:Ccdc62
|
UTSW |
5 |
124,089,288 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9536:Ccdc62
|
UTSW |
5 |
124,092,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |