Incidental Mutation 'IGL02513:Zdhhc19'
ID 296638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc19
Ensembl Gene ENSMUSG00000052363
Gene Name zinc finger, DHHC domain containing 19
Synonyms LOC245308
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02513
Quality Score
Status
Chromosome 16
Chromosomal Location 32315059-32326032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32318440 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q810M5
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: 8,042,979 (GRCm39) V787F probably benign Het
Atg14 T C 14: 47,786,451 (GRCm39) I268V probably benign Het
Atg14 T A 14: 47,783,081 (GRCm39) probably benign Het
Atm A T 9: 53,408,562 (GRCm39) probably benign Het
Ccdc9 A G 7: 16,018,434 (GRCm39) probably benign Het
Cers6 T C 2: 68,899,013 (GRCm39) F217S probably benign Het
Crebbp A C 16: 3,944,469 (GRCm39) probably null Het
Csmd1 T A 8: 16,049,869 (GRCm39) probably benign Het
Dmac2l A T 12: 69,787,819 (GRCm39) Y85F probably benign Het
Eml1 T A 12: 108,496,571 (GRCm39) V609E probably damaging Het
Fryl A G 5: 73,222,636 (GRCm39) S204P probably damaging Het
Gpr152 A G 19: 4,192,843 (GRCm39) D128G probably damaging Het
Itgal T A 7: 126,927,844 (GRCm39) V1013D possibly damaging Het
Kctd18 A G 1: 58,004,559 (GRCm39) Y112H probably damaging Het
Kdm4d T A 9: 14,375,850 (GRCm39) T3S probably benign Het
Lrp1b C T 2: 41,000,765 (GRCm39) probably null Het
Mex3c T A 18: 73,723,360 (GRCm39) D484E possibly damaging Het
Nalf1 T A 8: 9,257,930 (GRCm39) D406V probably benign Het
Nat14 T C 7: 4,927,050 (GRCm39) V74A possibly damaging Het
Or2b6 A G 13: 21,823,510 (GRCm39) F61S probably damaging Het
Pabpc2 C T 18: 39,908,193 (GRCm39) T486I probably benign Het
Pgm2 A G 5: 64,260,289 (GRCm39) probably benign Het
Pkn3 T A 2: 29,973,149 (GRCm39) I353N probably damaging Het
Rbm44 T A 1: 91,083,260 (GRCm39) S594R possibly damaging Het
Rrbp1 C T 2: 143,830,350 (GRCm39) A606T possibly damaging Het
Tcof1 A G 18: 60,964,850 (GRCm39) V623A possibly damaging Het
Tg A G 15: 66,577,123 (GRCm39) E1482G probably benign Het
Uba1 A G X: 20,541,885 (GRCm39) T546A probably benign Het
Vmn2r37 T C 7: 9,220,934 (GRCm39) K310E probably benign Het
Zbtb38 A T 9: 96,569,126 (GRCm39) W653R probably damaging Het
Zfp236 T C 18: 82,648,239 (GRCm39) Y974C probably damaging Het
Other mutations in Zdhhc19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02852:Zdhhc19 APN 16 32,316,460 (GRCm39) missense probably damaging 1.00
R1163:Zdhhc19 UTSW 16 32,325,258 (GRCm39) missense probably benign 0.09
R1903:Zdhhc19 UTSW 16 32,317,231 (GRCm39) nonsense probably null
R4617:Zdhhc19 UTSW 16 32,316,494 (GRCm39) missense probably damaging 1.00
R4771:Zdhhc19 UTSW 16 32,317,953 (GRCm39) missense probably damaging 1.00
R5405:Zdhhc19 UTSW 16 32,325,869 (GRCm39) missense possibly damaging 0.65
R6030:Zdhhc19 UTSW 16 32,317,860 (GRCm39) missense probably null 1.00
R6030:Zdhhc19 UTSW 16 32,317,860 (GRCm39) missense probably null 1.00
R6652:Zdhhc19 UTSW 16 32,316,047 (GRCm39) missense probably damaging 1.00
R6802:Zdhhc19 UTSW 16 32,325,176 (GRCm39) missense possibly damaging 0.87
R8738:Zdhhc19 UTSW 16 32,317,187 (GRCm39) missense probably damaging 1.00
R8944:Zdhhc19 UTSW 16 32,316,500 (GRCm39) missense probably damaging 1.00
R9243:Zdhhc19 UTSW 16 32,315,992 (GRCm39) missense probably damaging 0.98
R9277:Zdhhc19 UTSW 16 32,316,512 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16