Incidental Mutation 'IGL00964:Zdhhc14'
ID29329
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc14
Ensembl Gene ENSMUSG00000034265
Gene Namezinc finger, DHHC domain containing 14
SynonymsNew1cp, B530001K09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL00964
Quality Score
Status
Chromosome17
Chromosomal Location5492557-5753811 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 5712481 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 220 (L220Q)
Ref Sequence ENSEMBL: ENSMUSP00000086589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089185]
Predicted Effect probably damaging
Transcript: ENSMUST00000089185
AA Change: L220Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086589
Gene: ENSMUSG00000034265
AA Change: L220Q

DomainStartEndE-ValueType
transmembrane domain 62 81 N/A INTRINSIC
transmembrane domain 91 110 N/A INTRINSIC
Pfam:zf-DHHC 160 289 1.8e-38 PFAM
low complexity region 351 365 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik T A 7: 44,360,186 *197C probably null Het
4930432K21Rik T C 8: 84,166,714 I170T probably benign Het
Acsl6 A G 11: 54,325,646 Y213C probably damaging Het
Agt T C 8: 124,557,895 probably benign Het
Aifm3 A G 16: 17,500,364 D144G probably damaging Het
Alad T C 4: 62,514,093 I32V probably benign Het
Astn2 T A 4: 66,185,187 M330L unknown Het
AU040320 T A 4: 126,854,406 C1029* probably null Het
Brca2 T A 5: 150,532,310 I172N probably damaging Het
Cdk5rap3 A G 11: 96,909,939 probably null Het
Dusp26 G T 8: 31,094,108 R81L probably benign Het
Dync2h1 T C 9: 7,174,881 probably benign Het
Ehd4 A G 2: 120,127,682 C141R probably benign Het
Ftsj3 G T 11: 106,253,115 A261D probably benign Het
Gm14085 A T 2: 122,517,046 Q229H probably damaging Het
Gm5431 G A 11: 48,889,267 T554I probably damaging Het
Hyls1 A G 9: 35,562,112 probably benign Het
Ifi213 T A 1: 173,593,952 T124S possibly damaging Het
Ints10 T A 8: 68,811,986 I457N probably damaging Het
Klk1b1 T G 7: 43,971,169 S228A possibly damaging Het
Lpar2 T C 8: 69,826,512 S319P probably benign Het
Lsr T C 7: 30,971,996 N104S probably damaging Het
Mybpc1 T A 10: 88,555,742 probably null Het
Nalcn T A 14: 123,295,384 probably benign Het
Ovol2 G A 2: 144,305,679 A217V probably damaging Het
Pcdh12 T A 18: 38,282,731 Q447L probably benign Het
Pdgfra T C 5: 75,175,065 I453T probably damaging Het
Ptprd C T 4: 75,998,556 W1037* probably null Het
Rabgef1 T C 5: 130,191,022 S109P probably damaging Het
Rev3l T C 10: 39,864,806 I2995T probably benign Het
Slamf6 T A 1: 171,917,780 C25S probably null Het
Sorbs2 A C 8: 45,795,677 N520T probably damaging Het
Spr-ps1 C A 6: 85,155,034 noncoding transcript Het
Stx4a A G 7: 127,842,726 Q92R probably benign Het
Tab2 A C 10: 7,910,073 V638G probably benign Het
Trim41 C A 11: 48,812,363 R79S possibly damaging Het
Ttll5 A G 12: 85,849,283 Y135C possibly damaging Het
Zan T C 5: 137,405,941 probably benign Het
Other mutations in Zdhhc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Zdhhc14 APN 17 5752684 splice site probably benign
IGL00909:Zdhhc14 APN 17 5752792 missense probably benign
IGL01398:Zdhhc14 APN 17 5712463 missense possibly damaging 0.90
IGL01483:Zdhhc14 APN 17 5712458 missense probably benign 0.01
IGL02185:Zdhhc14 APN 17 5752882 missense probably benign 0.01
IGL02801:Zdhhc14 APN 17 5726819 splice site probably null
R0189:Zdhhc14 UTSW 17 5725264 missense possibly damaging 0.90
R0304:Zdhhc14 UTSW 17 5725336 splice site probably benign
R0648:Zdhhc14 UTSW 17 5493602 missense probably benign 0.01
R1017:Zdhhc14 UTSW 17 5493649 missense probably damaging 0.99
R1595:Zdhhc14 UTSW 17 5493556 missense probably benign 0.00
R2416:Zdhhc14 UTSW 17 5753008 missense probably benign
R3420:Zdhhc14 UTSW 17 5753091 makesense probably null
R3421:Zdhhc14 UTSW 17 5753091 makesense probably null
R4063:Zdhhc14 UTSW 17 5752708 missense probably damaging 1.00
R4088:Zdhhc14 UTSW 17 5726856 missense probably benign 0.01
R5359:Zdhhc14 UTSW 17 5493546 missense probably benign
R6236:Zdhhc14 UTSW 17 5493643 missense probably damaging 1.00
R7029:Zdhhc14 UTSW 17 5647911 missense probably damaging 0.97
R7350:Zdhhc14 UTSW 17 5726876 missense probably benign 0.44
R7873:Zdhhc14 UTSW 17 5712454 missense probably benign 0.37
R7956:Zdhhc14 UTSW 17 5712454 missense probably benign 0.37
Posted On2013-04-17