Incidental Mutation 'IGL02491:Ccdc62'
ID 295664
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 # IGL02491
Quality Score
Status
Chromosome 5
Chromosomal Location 124068742-124107958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124099378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 677 (S677C)
Ref Sequence ENSEMBL: ENSMUSP00000127483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094320] [ENSMUST00000165148]
AlphaFold E9PVD1
Predicted Effect probably damaging
Transcript: ENSMUST00000094320
AA Change: S677C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091878
Gene: ENSMUSG00000061882
AA Change: S677C

DomainStartEndE-ValueType
coiled coil region 61 197 N/A INTRINSIC
coiled coil region 241 297 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165148
AA Change: S677C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127483
Gene: ENSMUSG00000061882
AA Change: S677C

DomainStartEndE-ValueType
coiled coil region 61 197 N/A INTRINSIC
coiled coil region 241 297 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197673
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,067,794 (GRCm39) probably benign Het
Acacb T A 5: 114,330,166 (GRCm39) I443N probably damaging Het
C1qtnf3 A T 15: 10,972,067 (GRCm39) I118F possibly damaging Het
Carmil3 C T 14: 55,741,974 (GRCm39) A1148V probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col11a2 C A 17: 34,283,181 (GRCm39) probably benign Het
Cpsf7 A G 19: 10,517,001 (GRCm39) I368V possibly damaging Het
Csmd2 T C 4: 128,428,050 (GRCm39) S2934P probably benign Het
Csmd3 A G 15: 47,777,511 (GRCm39) probably benign Het
Cubn A G 2: 13,326,039 (GRCm39) Y2709H probably damaging Het
Cyp2d12 T A 15: 82,442,682 (GRCm39) L375Q possibly damaging Het
Etv4 A T 11: 101,674,791 (GRCm39) probably null Het
Exph5 T A 9: 53,286,343 (GRCm39) D1141E possibly damaging Het
Fbxo16 T A 14: 65,558,736 (GRCm39) H298Q probably benign Het
Fbxw21 T A 9: 108,972,887 (GRCm39) Y349F probably benign Het
Foxs1 G A 2: 152,774,721 (GRCm39) R111C probably damaging Het
Galnt15 T A 14: 31,778,273 (GRCm39) L436Q probably damaging Het
Gbf1 T C 19: 46,250,979 (GRCm39) probably benign Het
Gm8237 A T 14: 5,863,577 (GRCm38) C29* probably null Het
Hcn1 A G 13: 117,946,576 (GRCm39) D317G unknown Het
Itgam A G 7: 127,715,190 (GRCm39) N877D possibly damaging Het
Kcnma1 T C 14: 23,361,757 (GRCm39) R1047G probably damaging Het
Klhdc3 T C 17: 46,988,226 (GRCm39) R180G possibly damaging Het
Lpcat2 T C 8: 93,600,879 (GRCm39) V241A probably damaging Het
Mnat1 A G 12: 73,170,682 (GRCm39) N24S probably null Het
Mprip A G 11: 59,660,857 (GRCm39) T967A probably benign Het
Mtf1 T C 4: 124,732,372 (GRCm39) F477L probably benign Het
Naaladl1 A G 19: 6,159,748 (GRCm39) E393G possibly damaging Het
Or10ak7 A T 4: 118,791,358 (GRCm39) L229H probably damaging Het
Or2at1 A G 7: 99,416,540 (GRCm39) E57G possibly damaging Het
Or5e1 A G 7: 108,354,321 (GRCm39) K86R probably damaging Het
Pcdhb6 A T 18: 37,468,735 (GRCm39) D552V probably damaging Het
Pglyrp3 C T 3: 91,921,944 (GRCm39) S4F possibly damaging Het
Pramel13 A T 4: 144,121,322 (GRCm39) M234K probably damaging Het
Prss27 A T 17: 24,263,229 (GRCm39) probably benign Het
Slc5a9 A G 4: 111,753,549 (GRCm39) S51P probably damaging Het
Slc6a4 A G 11: 76,918,034 (GRCm39) Y592C probably damaging Het
Slc7a13 T A 4: 19,841,404 (GRCm39) V417D probably damaging Het
Spring1 T C 5: 118,397,160 (GRCm39) Y130H probably benign Het
Syne2 A G 12: 76,118,953 (GRCm39) T5857A probably benign Het
Thap1 A C 8: 26,650,885 (GRCm39) S52R probably damaging Het
Thsd4 T C 9: 59,907,301 (GRCm39) N158S probably damaging Het
Tmem147 A T 7: 30,427,626 (GRCm39) probably benign Het
Trdmt1 G A 2: 13,521,483 (GRCm39) A311V probably benign Het
U2surp T A 9: 95,372,273 (GRCm39) R296S probably damaging Het
Upf2 A G 2: 6,030,975 (GRCm39) D805G unknown Het
Usp34 T A 11: 23,382,630 (GRCm39) H2057Q probably damaging Het
Vmn2r110 T A 17: 20,816,400 (GRCm39) D41V probably damaging Het
Vmn2r16 T A 5: 109,487,703 (GRCm39) L192* probably null Het
Vnn3 T A 10: 23,741,816 (GRCm39) S374T probably benign Het
Wdr62 A C 7: 29,942,184 (GRCm39) D1089E probably benign Het
Xdh T A 17: 74,193,459 (GRCm39) D1279V probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp518b A G 5: 38,831,123 (GRCm39) I294T possibly damaging Het
Zfp983 G A 17: 21,876,528 (GRCm39) probably null Het
Other mutations in Ccdc62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Ccdc62 APN 5 124,092,639 (GRCm39) missense possibly damaging 0.83
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 2015-04-16