Incidental Mutation 'IGL02491:Ccdc62'
ID295664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc62
Ensembl Gene ENSMUSG00000061882
Gene Namecoiled-coil domain containing 62
SynonymsLOC208908
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02491
Quality Score
Status
Chromosome5
Chromosomal Location123930679-123969895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 123961315 bp
ZygosityHeterozygous
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]
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
2410131K14Rik T C 5: 118,259,095 Y130H probably benign Het
Abca6 T C 11: 110,176,968 probably benign Het
Acacb T A 5: 114,192,105 I443N probably damaging Het
C1qtnf3 A T 15: 10,971,981 I118F possibly damaging Het
Carmil3 C T 14: 55,504,517 A1148V probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col11a2 C A 17: 34,064,207 probably benign Het
Cpsf7 A G 19: 10,539,637 I368V possibly damaging Het
Csmd2 T C 4: 128,534,257 S2934P probably benign Het
Csmd3 A G 15: 47,914,115 probably benign Het
Cubn A G 2: 13,321,228 Y2709H probably damaging Het
Cyp2d12 T A 15: 82,558,481 L375Q possibly damaging Het
Etv4 A T 11: 101,783,965 probably null Het
Exph5 T A 9: 53,375,043 D1141E possibly damaging Het
Fbxo16 T A 14: 65,321,287 H298Q probably benign Het
Fbxw21 T A 9: 109,143,819 Y349F probably benign Het
Foxs1 G A 2: 152,932,801 R111C probably damaging Het
Galnt15 T A 14: 32,056,316 L436Q probably damaging Het
Gbf1 T C 19: 46,262,540 probably benign Het
Gm8237 A T 14: 5,863,577 C29* probably null Het
Hcn1 A G 13: 117,810,040 D317G unknown Het
Itgam A G 7: 128,116,018 N877D possibly damaging Het
Kcnma1 T C 14: 23,311,689 R1047G probably damaging Het
Klhdc3 T C 17: 46,677,300 R180G possibly damaging Het
Lpcat2 T C 8: 92,874,251 V241A probably damaging Het
Mnat1 A G 12: 73,123,908 N24S probably null Het
Mprip A G 11: 59,770,031 T967A probably benign Het
Mtf1 T C 4: 124,838,579 F477L probably benign Het
Naaladl1 A G 19: 6,109,718 E393G possibly damaging Het
Olfr1328 A T 4: 118,934,161 L229H probably damaging Het
Olfr513 A G 7: 108,755,114 K86R probably damaging Het
Olfr521 A G 7: 99,767,333 E57G possibly damaging Het
Pcdhb6 A T 18: 37,335,682 D552V probably damaging Het
Pglyrp3 C T 3: 92,014,637 S4F possibly damaging Het
Pramef12 A T 4: 144,394,752 M234K probably damaging Het
Prss27 A T 17: 24,044,255 probably benign Het
Slc5a9 A G 4: 111,896,352 S51P probably damaging Het
Slc6a4 A G 11: 77,027,208 Y592C probably damaging Het
Slc7a13 T A 4: 19,841,404 V417D probably damaging Het
Syne2 A G 12: 76,072,179 T5857A probably benign Het
Thap1 A C 8: 26,160,857 S52R probably damaging Het
Thsd4 T C 9: 60,000,018 N158S probably damaging Het
Tmem147 A T 7: 30,728,201 probably benign Het
Trdmt1 G A 2: 13,516,672 A311V probably benign Het
U2surp T A 9: 95,490,220 R296S probably damaging Het
Upf2 A G 2: 6,026,164 D805G unknown Het
Usp34 T A 11: 23,432,630 H2057Q probably damaging Het
Vmn2r110 T A 17: 20,596,138 D41V probably damaging Het
Vmn2r16 T A 5: 109,339,837 L192* probably null Het
Vnn3 T A 10: 23,865,918 S374T probably benign Het
Wdr62 A C 7: 30,242,759 D1089E probably benign Het
Xdh T A 17: 73,886,464 D1279V probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp518b A G 5: 38,673,780 I294T possibly damaging Het
Zfp983 G A 17: 21,657,612 probably null Het
Other mutations in Ccdc62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Ccdc62 APN 5 123954576 missense possibly damaging 0.83
IGL02634:Ccdc62 APN 5 123954257 missense probably benign 0.03
IGL02938:Ccdc62 APN 5 123934184 missense probably benign 0.30
IGL03274:Ccdc62 APN 5 123954680 missense probably benign 0.00
IGL03293:Ccdc62 APN 5 123951225 missense possibly damaging 0.95
Condensed UTSW 5 123934093 missense probably benign 0.00
R0356:Ccdc62 UTSW 5 123954748 missense probably benign 0.05
R3915:Ccdc62 UTSW 5 123954715 missense probably damaging 1.00
R4708:Ccdc62 UTSW 5 123930862 critical splice donor site probably null
R5731:Ccdc62 UTSW 5 123951289 critical splice donor site probably null
R6354:Ccdc62 UTSW 5 123944204 missense probably damaging 0.96
R6681:Ccdc62 UTSW 5 123934093 missense probably benign 0.00
R7340:Ccdc62 UTSW 5 123951220 missense probably damaging 1.00
Posted On2015-04-16