Incidental Mutation 'R5731:Ccdc62'
| ID |
452754 |
| 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 |
043192-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5731 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124068742-124107958 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 124089352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094320]
[ENSMUST00000094320]
[ENSMUST00000165148]
[ENSMUST00000165148]
|
| AlphaFold |
E9PVD1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094320
|
| SMART Domains |
Protein: ENSMUSP00000091878
Gene: ENSMUSG00000061882
| 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 null
Transcript: ENSMUST00000094320
|
| SMART Domains |
Protein: ENSMUSP00000091878
Gene: ENSMUSG00000061882
| 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 null
Transcript: ENSMUST00000165148
|
| SMART Domains |
Protein: ENSMUSP00000127483
Gene: ENSMUSG00000061882
| 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 null
Transcript: ENSMUST00000165148
|
| SMART Domains |
Protein: ENSMUSP00000127483
Gene: ENSMUSG00000061882
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
G |
8: 33,919,353 (GRCm39) |
I58V |
unknown |
Het |
| Abca4 |
G |
T |
3: 121,926,242 (GRCm39) |
G18V |
probably damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,374 (GRCm39) |
V34A |
possibly damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,104,163 (GRCm39) |
N202I |
possibly damaging |
Het |
| C1qtnf6 |
A |
T |
15: 78,411,514 (GRCm39) |
M54K |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,443,846 (GRCm39) |
C751R |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,375,923 (GRCm39) |
I657V |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,095,310 (GRCm39) |
T61A |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,710,471 (GRCm39) |
G553E |
probably benign |
Het |
| Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,614,962 (GRCm39) |
H328R |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 53,008,149 (GRCm39) |
|
probably null |
Het |
| Gm5431 |
A |
G |
11: 48,785,275 (GRCm39) |
Y89H |
probably damaging |
Het |
| Gprin2 |
C |
A |
14: 33,917,397 (GRCm39) |
L124F |
probably damaging |
Het |
| Hacd2 |
T |
A |
16: 34,922,374 (GRCm39) |
Y188N |
probably damaging |
Het |
| Itgad |
A |
G |
7: 127,797,726 (GRCm39) |
T950A |
probably benign |
Het |
| Kit |
T |
A |
5: 75,815,075 (GRCm39) |
I933N |
possibly damaging |
Het |
| Klhl11 |
A |
T |
11: 100,354,589 (GRCm39) |
Y411N |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,966,500 (GRCm39) |
S1313P |
probably damaging |
Het |
| Neurog1 |
T |
C |
13: 56,399,354 (GRCm39) |
K131R |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,248 (GRCm39) |
L170P |
probably damaging |
Het |
| Or5d16 |
T |
A |
2: 87,773,771 (GRCm39) |
H67L |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,717,325 (GRCm39) |
D382G |
probably damaging |
Het |
| Pcdh1 |
A |
C |
18: 38,331,651 (GRCm39) |
F590V |
probably damaging |
Het |
| Pcdha5 |
G |
A |
18: 37,093,820 (GRCm39) |
V110M |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,368,284 (GRCm39) |
N261D |
probably benign |
Het |
| Pou4f1 |
T |
C |
14: 104,703,347 (GRCm39) |
T362A |
unknown |
Het |
| Prlr |
A |
G |
15: 10,314,221 (GRCm39) |
T9A |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,478,289 (GRCm39) |
Y245C |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,471,917 (GRCm39) |
D4515V |
probably damaging |
Het |
| Svop |
T |
C |
5: 114,198,124 (GRCm39) |
K149E |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,851,157 (GRCm39) |
V56A |
probably benign |
Het |
| Tm4sf20 |
T |
G |
1: 82,738,013 (GRCm39) |
I93L |
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,288,111 (GRCm39) |
R19* |
probably null |
Het |
| Vmn2r28 |
G |
T |
7: 5,491,668 (GRCm39) |
T193K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,802,661 (GRCm39) |
D654G |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,644,701 (GRCm39) |
Q1167L |
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 |
|
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 |
|
|
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'- AGGACCACAACAAAAGTGTTAGTTG -3'
(R):5'- CCACAGGCAAGACTATCTACTATGC -3'
Sequencing Primer
(F):5'- TCCCTATACAGTTGAGAGGG -3'
(R):5'- ATCAACATGTATTGGGCAGTAGTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation