Incidental Mutation 'IGL01782:Ccdc62'
ID153949
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 #IGL01782
Quality Score
Status
Chromosome5
Chromosomal Location123930679-123969895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 123954576 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T C 9: 63,616,713 V34A probably benign Het
Acacb G T 5: 114,200,520 G764W probably damaging Het
Ankib1 A G 5: 3,727,607 C428R probably damaging Het
Card11 A G 5: 140,927,726 M1T probably null Het
Cep290 C T 10: 100,545,125 Q1742* probably null Het
Cyp2c23 T C 19: 44,029,115 T25A possibly damaging Het
Dtx2 C A 5: 136,010,127 Y13* probably null Het
Dync1h1 T C 12: 110,614,940 I273T probably damaging Het
E430018J23Rik T C 7: 127,393,304 T45A probably benign Het
Etfb A G 7: 43,454,542 T134A probably damaging Het
Fig4 A C 10: 41,270,400 L182R probably benign Het
Gm10220 A T 5: 26,117,023 L217Q probably damaging Het
Gm4871 T G 5: 145,030,360 probably benign Het
Gm5346 T A 8: 43,626,735 T151S probably benign Het
Gm5464 T C 14: 66,869,388 probably benign Het
Lurap1 A G 4: 116,144,503 probably benign Het
Mmp17 T A 5: 129,602,141 V368E probably damaging Het
Mrpl22 T A 11: 58,171,844 probably null Het
Nisch G A 14: 31,176,639 probably benign Het
Odf4 A T 11: 68,926,633 H76Q probably damaging Het
Olfr330 T A 11: 58,529,159 M276L probably benign Het
Olfr777 C T 10: 129,269,039 V95I probably benign Het
Orc1 T C 4: 108,606,268 S661P possibly damaging Het
Otud4 T G 8: 79,673,011 F784V possibly damaging Het
Prkch A G 12: 73,759,662 D561G probably damaging Het
Pttg1ip T C 10: 77,581,929 probably null Het
Ranbp2 A G 10: 58,478,309 K1617R probably damaging Het
Rarb T G 14: 16,434,180 S333R probably damaging Het
Rps6ka2 A G 17: 7,236,124 K99E probably benign Het
Sel1l2 A T 2: 140,243,935 W542R probably damaging Het
Sema3g G T 14: 31,227,791 R643L probably damaging Het
Sltm T A 9: 70,573,641 D258E probably damaging Het
Stx18 G A 5: 38,106,611 V80I possibly damaging Het
Taar2 A T 10: 23,941,144 N194I probably damaging Het
Ube2r2 T C 4: 41,174,129 probably null Het
Unk C A 11: 116,058,379 N645K probably benign Het
Vmn1r73 A G 7: 11,756,738 K161R probably benign Het
Vps13a T C 19: 16,754,337 D137G probably damaging Het
Xrra1 A G 7: 99,875,194 T104A possibly damaging Het
Zfp410 T A 12: 84,327,274 probably benign Het
Other mutations in Ccdc62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02491:Ccdc62 APN 5 123961315 missense probably damaging 1.00
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
R8325:Ccdc62 UTSW 5 123954385 missense probably benign 0.28
R8418:Ccdc62 UTSW 5 123946392 nonsense probably null
R8845:Ccdc62 UTSW 5 123954407 missense probably benign
Posted On2014-02-04