Incidental Mutation 'IGL00924:Ccdc42'
ID28527
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 #IGL00924
Quality Score
Status
Chromosome11
Chromosomal Location68587021-68597966 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68594621 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 191 (I191V)
Ref Sequence ENSEMBL: ENSMUSP00000057342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063006] [ENSMUST00000102612] [ENSMUST00000154294]
Predicted Effect probably benign
Transcript: ENSMUST00000063006
AA Change: I191V

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000057342
Gene: ENSMUSG00000045915
AA Change: I191V

DomainStartEndE-ValueType
Pfam:DUF4200 39 169 6e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102612
AA Change: I122V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099672
Gene: ENSMUSG00000045915
AA Change: I122V

DomainStartEndE-ValueType
coiled coil region 35 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154294
AA Change: I269V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114381
Gene: ENSMUSG00000045915
AA Change: I269V

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,215,862 V112A probably benign Het
Atp1a4 T A 1: 172,246,772 I305F probably damaging Het
AW209491 A G 13: 14,637,075 N171S probably damaging Het
Bank1 G T 3: 136,247,634 A120E probably damaging Het
Bdp1 T A 13: 100,097,579 E206D possibly damaging Het
Brd1 T C 15: 88,729,409 K428E possibly damaging Het
C530008M17Rik A G 5: 76,858,986 T1065A unknown Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Cpm T G 10: 117,676,066 I305S probably damaging Het
Dlc1 A T 8: 36,938,214 S140R probably benign Het
Dnajc14 A G 10: 128,817,319 T674A probably benign Het
Dnajc7 A G 11: 100,584,285 I437T possibly damaging Het
Entpd5 A T 12: 84,387,054 V147E probably damaging Het
Gpr139 A G 7: 119,184,287 C30R probably benign Het
Habp4 A G 13: 64,174,071 D174G probably damaging Het
Has3 T C 8: 106,878,599 F479S probably benign Het
Helb T A 10: 120,110,984 K141N probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kdm1b G A 13: 47,068,480 R465H probably benign Het
Lrrc57 A T 2: 120,606,051 M86K possibly damaging Het
Map7d1 A G 4: 126,238,605 V258A probably damaging Het
Mybbp1a T A 11: 72,443,567 F216Y probably damaging Het
Ncan T A 8: 70,108,389 M643L possibly damaging Het
Ngdn T C 14: 55,023,169 I278T probably damaging Het
Olfr1199 T C 2: 88,756,156 D173G possibly damaging Het
Olfr460 C T 6: 40,571,454 R23C probably benign Het
P4hb G T 11: 120,563,818 Q245K probably benign Het
Pcx G A 19: 4,620,937 V1089I probably benign Het
Phc3 A T 3: 30,936,475 M498K probably damaging Het
Pkd1 T A 17: 24,571,627 L1025* probably null Het
Sdhaf2 G A 19: 10,517,016 P110S probably damaging Het
Slc22a20 T C 19: 5,970,516 K538E probably benign Het
Soga1 T G 2: 157,040,705 M476L probably damaging Het
Spag11b T A 8: 19,142,640 V78D probably damaging Het
Tgm3 T C 2: 130,038,374 C367R probably damaging Het
Unc5a G A 13: 55,004,514 E741K probably damaging Het
Vmn2r58 A T 7: 41,837,467 L668H probably damaging Het
Wdr62 G A 7: 30,265,218 T367I probably damaging Het
Wdr62 G A 7: 30,242,806 P603S probably damaging Het
Xab2 G A 8: 3,611,723 R577W probably damaging Het
Other mutations in Ccdc42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01897:Ccdc42 APN 11 68594275 missense probably benign 0.00
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 On2013-04-17