Incidental Mutation 'IGL01897:Ccdc42'
ID179442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc42
Ensembl Gene ENSMUSG00000045915
Gene Namecoiled-coil domain containing 42
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL01897
Quality Score
Status
Chromosome11
Chromosomal Location68587021-68597966 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 68594275 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 205 (R205H)
Ref Sequence ENSEMBL: ENSMUSP00000114381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063006] [ENSMUST00000102612] [ENSMUST00000154294]
Predicted Effect probably benign
Transcript: ENSMUST00000063006
SMART Domains Protein: ENSMUSP00000057342
Gene: ENSMUSG00000045915

DomainStartEndE-ValueType
Pfam:DUF4200 39 169 6e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102612
AA Change: R58H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099672
Gene: ENSMUSG00000045915
AA Change: R58H

DomainStartEndE-ValueType
coiled coil region 35 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154294
AA Change: R205H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114381
Gene: ENSMUSG00000045915
AA Change: R205H

DomainStartEndE-ValueType
Pfam:DUF4200 44 162 5.6e-30 PFAM
coiled coil region 182 239 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no overt behavioral deficits. Males exhibit defects in the number and location of the sperm head-tail coupling apparatus, lack flagellated sperm, and are sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,418,288 Y21H possibly damaging Het
Adamts15 A T 9: 30,902,152 S906T probably damaging Het
Brat1 A G 5: 140,717,915 D641G probably benign Het
Cdadc1 T C 14: 59,592,537 probably null Het
Cfi T C 3: 129,858,385 V235A probably damaging Het
Ctps T A 4: 120,567,279 D46V probably damaging Het
Cyb5d1 A T 11: 69,393,761 D188E probably benign Het
Cyp19a1 G T 9: 54,168,529 T414N probably benign Het
Cyp2c40 A T 19: 39,803,773 C242* probably null Het
Eif3b A T 5: 140,425,447 T218S possibly damaging Het
Fasn A T 11: 120,807,939 L2475Q probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Heyl A T 4: 123,246,607 I320F probably damaging Het
Itpr3 T A 17: 27,111,262 V1618E probably damaging Het
Kif7 A T 7: 79,701,052 I1007N probably damaging Het
Lat2 A G 5: 134,606,627 probably benign Het
Lipm A T 19: 34,121,308 D394V probably damaging Het
Lmbrd1 T A 1: 24,743,896 I307K possibly damaging Het
Mief1 T C 15: 80,248,508 probably benign Het
Mta2 C T 19: 8,947,766 Q333* probably null Het
Neb T A 2: 52,280,575 E1695V possibly damaging Het
Npc1l1 A T 11: 6,227,879 N510K probably benign Het
Olfr312 T C 11: 58,831,639 F162L probably damaging Het
P2rx3 A C 2: 85,023,481 probably benign Het
Pdgfc A G 3: 81,204,332 E198G possibly damaging Het
Pkdcc T A 17: 83,220,119 I242N probably damaging Het
Pkn3 C T 2: 30,082,812 probably benign Het
Rcan2 T G 17: 43,836,434 D54E probably damaging Het
Tmeff2 T A 1: 51,132,210 Y202N probably damaging Het
Unc13c A G 9: 73,546,027 L1827P probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wfdc15a G T 2: 164,199,976 Q21K probably benign Het
Zfp951 C A 5: 104,815,283 S139I probably benign Het
Other mutations in Ccdc42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Ccdc42 APN 11 68594621 missense probably benign 0.09
R0153:Ccdc42 UTSW 11 68587650 missense possibly damaging 0.56
R0540:Ccdc42 UTSW 11 68597710 nonsense probably null
R0607:Ccdc42 UTSW 11 68597710 nonsense probably null
R1619:Ccdc42 UTSW 11 68594289 missense probably damaging 0.97
R1831:Ccdc42 UTSW 11 68590979 missense probably benign 0.00
R2264:Ccdc42 UTSW 11 68587651 missense probably benign 0.03
R6307:Ccdc42 UTSW 11 68588280 missense probably damaging 1.00
R6352:Ccdc42 UTSW 11 68594365 missense probably damaging 1.00
R6522:Ccdc42 UTSW 11 68588220 missense probably damaging 1.00
R7009:Ccdc42 UTSW 11 68594616 missense probably damaging 0.99
R7262:Ccdc42 UTSW 11 68594573 missense probably damaging 1.00
R7813:Ccdc42 UTSW 11 68597708 missense probably benign 0.00
R7827:Ccdc42 UTSW 11 68594196 missense probably benign 0.23
R8246:Ccdc42 UTSW 11 68587296 missense probably benign 0.00
Posted On2014-05-07