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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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