Incidental Mutation 'IGL01752:Zdhhc2'
ID278846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc2
Ensembl Gene ENSMUSG00000039470
Gene Namezinc finger, DHHC domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01752
Quality Score
Status
Chromosome8
Chromosomal Location40423815-40510268 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 40473001 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 346 (A346T)
Ref Sequence ENSEMBL: ENSMUSP00000129996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049389] [ENSMUST00000128166] [ENSMUST00000167766]
Predicted Effect probably benign
Transcript: ENSMUST00000049389
AA Change: A346T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041727
Gene: ENSMUSG00000039470
AA Change: A346T

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
Pfam:zf-DHHC 66 248 4.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128166
AA Change: A346T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123070
Gene: ENSMUSG00000039470
AA Change: A346T

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
transmembrane domain 48 70 N/A INTRINSIC
Pfam:zf-DHHC 122 248 1.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167766
AA Change: A346T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129996
Gene: ENSMUSG00000039470
AA Change: A346T

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
Pfam:zf-DHHC 66 248 4.1e-43 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,509,878 probably null Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Cdh4 A T 2: 179,890,884 N713I probably damaging Het
Cdkl4 T A 17: 80,543,614 probably benign Het
Ddx21 A G 10: 62,587,507 S639P probably damaging Het
Dock3 T C 9: 107,025,313 probably benign Het
Fan1 G A 7: 64,372,794 T237M probably benign Het
Fbn2 T A 18: 58,075,977 probably null Het
Fhad1 T C 4: 141,972,899 K347E possibly damaging Het
Gucy2c C A 6: 136,770,108 A118S probably benign Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lox A G 18: 52,520,854 V390A possibly damaging Het
Lyn A T 4: 3,743,286 M69L probably benign Het
Mrgprb5 A G 7: 48,168,667 F107L probably benign Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcnx3 T A 19: 5,665,337 K1962* probably null Het
Pde3a T C 6: 141,487,613 probably benign Het
Phf10 A G 17: 14,954,950 probably benign Het
Prune2 A G 19: 17,123,903 E2257G possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Slc4a11 T G 2: 130,688,145 T238P probably damaging Het
Ssu2 T A 6: 112,375,592 K279N probably damaging Het
Tead3 A T 17: 28,333,594 I275N probably damaging Het
Ttn T C 2: 76,744,793 E25252G probably damaging Het
Twsg1 T C 17: 65,929,784 T84A probably benign Het
Ugt3a1 A T 15: 9,306,146 K127M probably damaging Het
Unc13c A T 9: 73,931,811 M586K probably benign Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Vps13c T A 9: 67,948,228 I2525N probably damaging Het
Zfp52 T G 17: 21,560,150 C87G probably benign Het
Other mutations in Zdhhc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Zdhhc2 APN 8 40467419 splice site probably benign
IGL01751:Zdhhc2 APN 8 40473001 missense probably benign
IGL01800:Zdhhc2 APN 8 40464243 missense probably damaging 1.00
IGL02475:Zdhhc2 APN 8 40473025 missense probably null 1.00
IGL02554:Zdhhc2 APN 8 40462114 missense probably damaging 1.00
R0662:Zdhhc2 UTSW 8 40447098 missense probably damaging 1.00
R0720:Zdhhc2 UTSW 8 40472907 splice site probably null
R1511:Zdhhc2 UTSW 8 40467972 missense probably benign 0.00
R4738:Zdhhc2 UTSW 8 40464142 splice site probably null
R5114:Zdhhc2 UTSW 8 40445784 missense probably benign 0.06
R5935:Zdhhc2 UTSW 8 40464236 missense probably damaging 0.96
R6029:Zdhhc2 UTSW 8 40472927 missense probably null
R7210:Zdhhc2 UTSW 8 40467439 missense probably damaging 0.96
R7792:Zdhhc2 UTSW 8 40447141 missense probably benign 0.02
Posted On2015-04-16