Incidental Mutation 'IGL01616:Zdhhc23'
ID92381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc23
Ensembl Gene ENSMUSG00000036304
Gene Namezinc finger, DHHC domain containing 23
SynonymsLOC332175, LOC385651
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01616
Quality Score
Status
Chromosome16
Chromosomal Location43965033-43979791 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43973480 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 277 (H277L)
Ref Sequence ENSEMBL: ENSMUSP00000156089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036321] [ENSMUST00000165648] [ENSMUST00000231700] [ENSMUST00000232055]
Predicted Effect probably damaging
Transcript: ENSMUST00000036321
AA Change: H277L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044744
Gene: ENSMUSG00000036304
AA Change: H277L

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
transmembrane domain 82 99 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 132 151 N/A INTRINSIC
Pfam:zf-DHHC 175 378 3.8e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165648
AA Change: H277L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128650
Gene: ENSMUSG00000036304
AA Change: H277L

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
transmembrane domain 82 99 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 132 151 N/A INTRINSIC
transmembrane domain 161 180 N/A INTRINSIC
Pfam:zf-DHHC 244 378 8.4e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000231700
AA Change: H277L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000232055
AA Change: H277L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T A 16: 85,887,814 probably null Het
Afg3l1 T A 8: 123,502,007 W771R probably damaging Het
Braf A G 6: 39,651,652 S348P probably damaging Het
Cd200 T C 16: 45,397,056 T112A possibly damaging Het
Cep350 T C 1: 155,953,247 I304V probably benign Het
Fry A G 5: 150,399,599 T1072A probably damaging Het
Fry A T 5: 150,438,811 probably null Het
Fuk G T 8: 110,890,476 H388N possibly damaging Het
Gcdh C T 8: 84,893,659 G8D probably damaging Het
Ivns1abp C A 1: 151,361,543 T486K possibly damaging Het
Mat1a G A 14: 41,109,479 V55M probably damaging Het
Olfr656 T C 7: 104,617,721 F22S probably damaging Het
Pcnx3 C T 19: 5,667,259 probably benign Het
Psrc1 C A 3: 108,386,692 S275Y possibly damaging Het
Ptpn21 A G 12: 98,680,013 L1062P probably damaging Het
Slc22a13b-ps A C 9: 119,220,928 probably benign Het
Slc35b1 T A 11: 95,389,084 M178K probably benign Het
Slc6a11 A T 6: 114,134,868 Q132L possibly damaging Het
Slc9a8 C T 2: 167,424,166 T21I possibly damaging Het
Tox T C 4: 6,688,430 T526A probably damaging Het
Ubr3 C T 2: 70,020,484 P1749S probably benign Het
Wdfy3 C A 5: 101,913,260 A1363S probably damaging Het
Other mutations in Zdhhc23
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0179:Zdhhc23 UTSW 16 43973703 missense probably benign 0.06
R0180:Zdhhc23 UTSW 16 43973703 missense probably benign 0.06
R1367:Zdhhc23 UTSW 16 43974150 missense probably benign 0.04
R1557:Zdhhc23 UTSW 16 43971466 missense possibly damaging 0.63
R1997:Zdhhc23 UTSW 16 43978942 missense probably damaging 1.00
R2035:Zdhhc23 UTSW 16 43973508 missense probably damaging 1.00
R2153:Zdhhc23 UTSW 16 43973919 missense probably benign 0.03
R2497:Zdhhc23 UTSW 16 43973915 missense probably damaging 1.00
R3432:Zdhhc23 UTSW 16 43974170 splice site probably benign
R4776:Zdhhc23 UTSW 16 43973589 missense possibly damaging 0.79
R5067:Zdhhc23 UTSW 16 43973771 missense probably benign 0.00
R7086:Zdhhc23 UTSW 16 43971510 missense probably damaging 0.98
R7840:Zdhhc23 UTSW 16 43971544 missense possibly damaging 0.93
R7876:Zdhhc23 UTSW 16 43969300 missense probably damaging 0.98
R8416:Zdhhc23 UTSW 16 43971564 missense probably damaging 1.00
Posted On2013-12-09