Incidental Mutation 'IGL01782:Ccdc62'
| ID |
153949 |
| 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 # |
IGL01782
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
124068742-124107958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124092639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 541
(N541K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094320]
[ENSMUST00000165148]
|
| AlphaFold |
E9PVD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094320
AA Change: N541K
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091878
Gene: ENSMUSG00000061882
AA Change: N541K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
61 |
197 |
N/A |
INTRINSIC |
|
coiled coil region
|
241 |
297 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165148
AA Change: N541K
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127483
Gene: ENSMUSG00000061882
AA Change: N541K
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
C |
9: 63,523,995 (GRCm39) |
V34A |
probably benign |
Het |
| Acacb |
G |
T |
5: 114,338,581 (GRCm39) |
G764W |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,772 (GRCm39) |
T151S |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,777,607 (GRCm39) |
C428R |
probably damaging |
Het |
| Card11 |
A |
G |
5: 140,913,481 (GRCm39) |
M1T |
probably null |
Het |
| Cep290 |
C |
T |
10: 100,380,987 (GRCm39) |
Q1742* |
probably null |
Het |
| Cyp2c23 |
T |
C |
19: 44,017,554 (GRCm39) |
T25A |
possibly damaging |
Het |
| Dtx2 |
C |
A |
5: 136,038,981 (GRCm39) |
Y13* |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,581,374 (GRCm39) |
I273T |
probably damaging |
Het |
| Etfb |
A |
G |
7: 43,103,966 (GRCm39) |
T134A |
probably damaging |
Het |
| Fig4 |
A |
C |
10: 41,146,396 (GRCm39) |
L182R |
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,322,021 (GRCm39) |
L217Q |
probably damaging |
Het |
| Gm4871 |
T |
G |
5: 144,967,170 (GRCm39) |
|
probably benign |
Het |
| Gm5464 |
T |
C |
14: 67,106,837 (GRCm39) |
|
probably benign |
Het |
| Lurap1 |
A |
G |
4: 116,001,700 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
T |
A |
5: 129,679,205 (GRCm39) |
V368E |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,670 (GRCm39) |
|
probably null |
Het |
| Nisch |
G |
A |
14: 30,898,596 (GRCm39) |
|
probably benign |
Het |
| Odf4 |
A |
T |
11: 68,817,459 (GRCm39) |
H76Q |
probably damaging |
Het |
| Or2t48 |
T |
A |
11: 58,419,985 (GRCm39) |
M276L |
probably benign |
Het |
| Or6c207 |
C |
T |
10: 129,104,908 (GRCm39) |
V95I |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,465 (GRCm39) |
S661P |
possibly damaging |
Het |
| Otud4 |
T |
G |
8: 80,399,640 (GRCm39) |
F784V |
possibly damaging |
Het |
| Prkch |
A |
G |
12: 73,806,436 (GRCm39) |
D561G |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,417,763 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,314,131 (GRCm39) |
K1617R |
probably damaging |
Het |
| Rarb |
T |
G |
14: 16,434,180 (GRCm38) |
S333R |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,503,523 (GRCm39) |
K99E |
probably benign |
Het |
| Sel1l2 |
A |
T |
2: 140,085,855 (GRCm39) |
W542R |
probably damaging |
Het |
| Sema3g |
G |
T |
14: 30,949,748 (GRCm39) |
R643L |
probably damaging |
Het |
| Sltm |
T |
A |
9: 70,480,923 (GRCm39) |
D258E |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,263,955 (GRCm39) |
V80I |
possibly damaging |
Het |
| Taar2 |
A |
T |
10: 23,817,042 (GRCm39) |
N194I |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,174,129 (GRCm39) |
|
probably null |
Het |
| Unk |
C |
A |
11: 115,949,205 (GRCm39) |
N645K |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,665 (GRCm39) |
K161R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,731,701 (GRCm39) |
D137G |
probably damaging |
Het |
| Xrra1 |
A |
G |
7: 99,524,401 (GRCm39) |
T104A |
possibly damaging |
Het |
| Zfp410 |
T |
A |
12: 84,374,048 (GRCm39) |
|
probably benign |
Het |
| Zfp764l1 |
T |
C |
7: 126,992,476 (GRCm39) |
T45A |
probably benign |
Het |
|
| Other mutations in Ccdc62 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation