Incidental Mutation 'R0356:Ccdc62'
ID |
29820 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc62
|
Ensembl Gene |
ENSMUSG00000061882 |
Gene Name |
coiled-coil domain containing 62 |
Synonyms |
repro29, LOC208908, G1-485-3 |
MMRRC Submission |
038562-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0356 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124068742-124107958 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 124092811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 599
(V599I)
|
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: V599I
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000091878 Gene: ENSMUSG00000061882 AA Change: V599I
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: V599I
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000127483 Gene: ENSMUSG00000061882 AA Change: V599I
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.6%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
100% (47/47) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
T |
C |
2: 32,464,418 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,302,642 (GRCm39) |
V924M |
possibly damaging |
Het |
Anxa9 |
A |
G |
3: 95,215,387 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
G |
T |
10: 80,563,812 (GRCm39) |
S122R |
probably damaging |
Het |
Arhgap5 |
T |
C |
12: 52,563,091 (GRCm39) |
S21P |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,573 (GRCm39) |
|
probably benign |
Het |
AU040320 |
A |
T |
4: 126,731,155 (GRCm39) |
D618V |
probably damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,373,269 (GRCm39) |
D475E |
probably benign |
Het |
Ccdc202 |
T |
A |
14: 96,119,801 (GRCm39) |
V186E |
possibly damaging |
Het |
Cenpj |
T |
C |
14: 56,786,953 (GRCm39) |
E917G |
probably damaging |
Het |
Cog5 |
T |
C |
12: 31,887,180 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
A |
1: 24,224,328 (GRCm39) |
L170* |
probably null |
Het |
Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,021,388 (GRCm39) |
|
probably null |
Het |
Drg2 |
T |
A |
11: 60,352,407 (GRCm39) |
V203E |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,865,930 (GRCm39) |
Y1586C |
probably damaging |
Het |
Gp6 |
A |
T |
7: 4,373,141 (GRCm39) |
|
probably benign |
Het |
Hhip |
T |
C |
8: 80,724,121 (GRCm39) |
I374V |
probably benign |
Het |
Hspa12b |
G |
T |
2: 130,986,719 (GRCm39) |
V547L |
possibly damaging |
Het |
Iars1 |
G |
A |
13: 49,856,709 (GRCm39) |
V321I |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,187,532 (GRCm39) |
M716V |
possibly damaging |
Het |
Lcn5 |
T |
C |
2: 25,550,705 (GRCm39) |
I131T |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,306,135 (GRCm39) |
T614M |
probably benign |
Het |
Mmp3 |
G |
A |
9: 7,451,768 (GRCm39) |
E369K |
probably benign |
Het |
Myt1l |
A |
G |
12: 29,861,500 (GRCm39) |
D94G |
unknown |
Het |
Neil1 |
T |
C |
9: 57,054,180 (GRCm39) |
I47V |
possibly damaging |
Het |
Nr5a2 |
T |
C |
1: 136,773,430 (GRCm39) |
N424S |
possibly damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,906 (GRCm39) |
I44N |
possibly damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,286 (GRCm39) |
D185V |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,441 (GRCm39) |
T245A |
possibly damaging |
Het |
Or7e166 |
G |
T |
9: 19,624,743 (GRCm39) |
G207C |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,855,628 (GRCm39) |
T360K |
possibly damaging |
Het |
Pde8b |
G |
T |
13: 95,182,962 (GRCm39) |
N265K |
probably damaging |
Het |
Prpf40b |
T |
C |
15: 99,203,080 (GRCm39) |
|
probably null |
Het |
Samd9l |
T |
C |
6: 3,375,107 (GRCm39) |
D718G |
possibly damaging |
Het |
Sirpb1c |
T |
C |
3: 15,887,309 (GRCm39) |
N175D |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,691,441 (GRCm39) |
|
probably null |
Het |
Tgm5 |
T |
A |
2: 120,884,055 (GRCm39) |
T313S |
probably damaging |
Het |
Tigar |
A |
G |
6: 127,068,145 (GRCm39) |
|
probably null |
Het |
Tmprss11b |
A |
G |
5: 86,808,326 (GRCm39) |
*417Q |
probably null |
Het |
Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
Ttll11 |
T |
C |
2: 35,792,688 (GRCm39) |
D385G |
possibly damaging |
Het |
Zfp426 |
T |
C |
9: 20,382,541 (GRCm39) |
T135A |
probably benign |
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 |
IGL03274:Ccdc62
|
APN |
5 |
124,092,743 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATGACCTGTCCGAGTCCAAGTG -3'
(R):5'- AAACCTCTGCCTTAGAAGCTGCC -3'
Sequencing Primer
(F):5'- AGTCCAAGTGCTGCCAC -3'
(R):5'- AAAGACCCCTGTGTCTATGCG -3'
|
Posted On |
2013-04-24 |