Incidental Mutation 'IGL02513:Zdhhc19'
ID296638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc19
Ensembl Gene ENSMUSG00000052363
Gene Namezinc finger, DHHC domain containing 19
SynonymsLOC245308
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02513
Quality Score
Status
Chromosome16
Chromosomal Location32496265-32561966 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32499622 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 99 (I99F)
Ref Sequence ENSEMBL: ENSMUSP00000156284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064192] [ENSMUST00000231510]
Predicted Effect probably damaging
Transcript: ENSMUST00000064192
AA Change: I195F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070727
Gene: ENSMUSG00000052363
AA Change: I195F

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
Pfam:zf-DHHC 107 230 2.5e-32 PFAM
low complexity region 291 306 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231293
Predicted Effect probably damaging
Transcript: ENSMUST00000231510
AA Change: I99F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232434
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob G T 12: 7,992,979 V787F probably benign Het
Atg14 T C 14: 47,548,994 I268V probably benign Het
Atg14 T A 14: 47,545,624 probably benign Het
Atm A T 9: 53,497,262 probably benign Het
Atp5s A T 12: 69,741,045 Y85F probably benign Het
Ccdc9 A G 7: 16,284,509 probably benign Het
Cers6 T C 2: 69,068,669 F217S probably benign Het
Crebbp A C 16: 4,126,605 probably null Het
Csmd1 T A 8: 15,999,869 probably benign Het
Eml1 T A 12: 108,530,312 V609E probably damaging Het
Fam155a T A 8: 9,207,930 D406V probably benign Het
Fryl A G 5: 73,065,293 S204P probably damaging Het
Gpr152 A G 19: 4,142,844 D128G probably damaging Het
Itgal T A 7: 127,328,672 V1013D possibly damaging Het
Kctd18 A G 1: 57,965,400 Y112H probably damaging Het
Kdm4d T A 9: 14,464,554 T3S probably benign Het
Lrp1b C T 2: 41,110,753 probably null Het
Mex3c T A 18: 73,590,289 D484E possibly damaging Het
Nat14 T C 7: 4,924,051 V74A possibly damaging Het
Olfr11 A G 13: 21,639,340 F61S probably damaging Het
Pabpc2 C T 18: 39,775,140 T486I probably benign Het
Pgm1 A G 5: 64,102,946 probably benign Het
Pkn3 T A 2: 30,083,137 I353N probably damaging Het
Rbm44 T A 1: 91,155,538 S594R possibly damaging Het
Rrbp1 C T 2: 143,988,430 A606T possibly damaging Het
Tcof1 A G 18: 60,831,778 V623A possibly damaging Het
Tg A G 15: 66,705,274 E1482G probably benign Het
Uba1 A G X: 20,675,646 T546A probably benign Het
Vmn2r37 T C 7: 9,217,935 K310E probably benign Het
Zbtb38 A T 9: 96,687,073 W653R probably damaging Het
Zfp236 T C 18: 82,630,114 Y974C probably damaging Het
Other mutations in Zdhhc19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02852:Zdhhc19 APN 16 32497642 missense probably damaging 1.00
R1163:Zdhhc19 UTSW 16 32506440 missense probably benign 0.09
R1903:Zdhhc19 UTSW 16 32498413 nonsense probably null
R4617:Zdhhc19 UTSW 16 32497676 missense probably damaging 1.00
R4771:Zdhhc19 UTSW 16 32499135 missense probably damaging 1.00
R5405:Zdhhc19 UTSW 16 32507051 missense possibly damaging 0.65
R6030:Zdhhc19 UTSW 16 32499042 missense probably null 1.00
R6030:Zdhhc19 UTSW 16 32499042 missense probably null 1.00
R6652:Zdhhc19 UTSW 16 32497229 missense probably damaging 1.00
R6802:Zdhhc19 UTSW 16 32506358 missense possibly damaging 0.87
Posted On2015-04-16