Incidental Mutation 'IGL00983:Zdhhc20'
ID29004
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc20
Ensembl Gene ENSMUSG00000021969
Gene Namezinc finger, DHHC domain containing 20
SynonymsB230110O18Rik, ENSMUSG00000055956, 5033406L14Rik, 4930542A17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #IGL00983
Quality Score
Status
Chromosome14
Chromosomal Location57832703-57890276 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57839156 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 335 (N335D)
Ref Sequence ENSEMBL: ENSMUSP00000086900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089473] [ENSMUST00000226057]
Predicted Effect possibly damaging
Transcript: ENSMUST00000089473
AA Change: N335D

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000086900
Gene: ENSMUSG00000021969
AA Change: N335D

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
transmembrane domain 52 74 N/A INTRINSIC
Pfam:zf-DHHC 121 250 2.2e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226029
Predicted Effect possibly damaging
Transcript: ENSMUST00000226057
AA Change: N347D

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,880,612 Q307* probably null Het
Acss3 A T 10: 106,966,964 C473* probably null Het
Adgrg1 T A 8: 95,005,243 S178T probably damaging Het
Anxa7 C A 14: 20,458,681 L386F possibly damaging Het
Calcrl T C 2: 84,370,454 E82G probably benign Het
Ccr9 C T 9: 123,779,286 P11L probably benign Het
Cep164 C A 9: 45,775,256 V887L possibly damaging Het
Dctn6 A G 8: 34,092,593 L136P probably damaging Het
Dnase1 T C 16: 4,039,553 V238A possibly damaging Het
Fat1 A G 8: 45,033,390 Y3304C probably damaging Het
Fbxo31 A T 8: 121,554,330 V359D possibly damaging Het
Gpr182 A G 10: 127,750,788 I98T possibly damaging Het
Gspt1 C T 16: 11,230,997 probably benign Het
Itgam C A 7: 128,068,667 T70K probably damaging Het
Itpr2 A G 6: 146,310,981 probably benign Het
Kank3 T A 17: 33,821,817 M458K probably damaging Het
Kcnd2 A G 6: 21,714,154 K379E possibly damaging Het
Macf1 C T 4: 123,382,122 V4206I probably damaging Het
Mdn1 T C 4: 32,735,525 L3397S probably damaging Het
Msh3 A T 13: 92,300,277 N508K probably damaging Het
Mttp C A 3: 138,115,129 probably benign Het
Nme5 G T 18: 34,567,128 Q155K probably benign Het
Olfr1341 A T 4: 118,709,922 N172Y probably damaging Het
Olfr458 A T 6: 42,460,095 I308N probably benign Het
Olfr548-ps1 T A 7: 102,542,386 I150N possibly damaging Het
Pfkp A T 13: 6,581,567 W151R probably damaging Het
Pkd1l1 T A 11: 8,844,585 T1859S probably benign Het
Pmvk T C 3: 89,467,583 W96R probably damaging Het
Prdx6b T A 2: 80,293,195 M116K probably damaging Het
Ptpro A C 6: 137,418,248 L876F probably benign Het
Sdcbp G T 4: 6,392,953 E197* probably null Het
Serpinb1c A T 13: 32,884,224 S188R possibly damaging Het
Sorcs1 A T 19: 50,176,128 D988E probably damaging Het
Tmbim1 C A 1: 74,295,263 G46V probably damaging Het
Ubl4b C T 3: 107,554,440 G168E unknown Het
Vmn2r91 T C 17: 18,105,558 F146S probably benign Het
Zzz3 T G 3: 152,455,810 probably benign Het
Other mutations in Zdhhc20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Zdhhc20 APN 14 57873924 missense probably damaging 0.99
IGL01107:Zdhhc20 APN 14 57865589 missense probably damaging 1.00
IGL01350:Zdhhc20 APN 14 57873987 missense probably benign 0.03
IGL02572:Zdhhc20 APN 14 57890107 missense probably benign 0.20
IGL02748:Zdhhc20 APN 14 57858553 missense probably benign 0.08
IGL03406:Zdhhc20 APN 14 57839099 missense probably benign
R0314:Zdhhc20 UTSW 14 57856619 missense probably damaging 1.00
R0631:Zdhhc20 UTSW 14 57857640 missense probably damaging 0.99
R1144:Zdhhc20 UTSW 14 57856678 missense probably benign 0.07
R1703:Zdhhc20 UTSW 14 57839088 critical splice donor site probably null
R1815:Zdhhc20 UTSW 14 57890143 missense probably benign 0.10
R1816:Zdhhc20 UTSW 14 57890143 missense probably benign 0.10
R6219:Zdhhc20 UTSW 14 57840883 missense probably damaging 0.99
R6488:Zdhhc20 UTSW 14 57840832 missense probably benign 0.00
R6650:Zdhhc20 UTSW 14 57858575 missense probably damaging 1.00
R6790:Zdhhc20 UTSW 14 57890143 missense probably benign 0.00
R7196:Zdhhc20 UTSW 14 57873891 critical splice donor site probably null
R7365:Zdhhc20 UTSW 14 57873920 missense possibly damaging 0.95
R8126:Zdhhc20 UTSW 14 57846945 missense probably damaging 1.00
R8832:Zdhhc20 UTSW 14 57843264 missense possibly damaging 0.86
R8832:Zdhhc20 UTSW 14 57865632 missense probably benign 0.05
Z1176:Zdhhc20 UTSW 14 57839105 nonsense probably null
Posted On2013-04-17