Incidental Mutation 'IGL01107:Zdhhc20'
ID52683
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: 0.141) question?
Stock #IGL01107
Quality Score
Status
Chromosome14
Chromosomal Location57832703-57890276 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57865589 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 101 (E101V)
Ref Sequence ENSEMBL: ENSMUSP00000153568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089473] [ENSMUST00000226057]
Predicted Effect probably damaging
Transcript: ENSMUST00000089473
AA Change: E101V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086900
Gene: ENSMUSG00000021969
AA Change: E101V

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: ENSMUST00000225955
Predicted Effect probably damaging
Transcript: ENSMUST00000226057
AA Change: E101V

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,797,936 F215Y probably damaging Het
2700049A03Rik T C 12: 71,194,468 probably null Het
Akip1 C T 7: 109,711,838 T195M probably damaging Het
Arhgef16 T C 4: 154,280,244 N631S probably benign Het
Brat1 C T 5: 140,717,177 S544L probably damaging Het
Cfap65 C T 1: 74,919,183 probably null Het
D17Wsu92e A T 17: 27,786,069 probably null Het
Defa22 T A 8: 21,163,037 probably null Het
Dnajc4 C T 19: 6,989,501 R153H probably benign Het
Dusp11 A G 6: 85,952,370 probably benign Het
E2f4 T A 8: 105,304,177 probably benign Het
Ece1 T A 4: 137,938,658 L271Q probably damaging Het
Fcgrt T C 7: 45,093,328 D343G probably damaging Het
Igsf10 T C 3: 59,331,524 E412G probably damaging Het
Il4ra G T 7: 125,575,914 L431F possibly damaging Het
Krt86 T A 15: 101,475,425 L200Q probably damaging Het
Lpcat1 T A 13: 73,494,828 F126I probably damaging Het
Prag1 A G 8: 36,099,931 T79A probably benign Het
Pramef12 A T 4: 144,393,094 I301N probably benign Het
Psg29 G T 7: 17,204,925 L41F probably benign Het
Rai14 C T 15: 10,599,711 probably benign Het
Reg3a A G 6: 78,383,245 D136G probably benign Het
Rif1 A G 2: 52,111,303 T1590A probably benign Het
Rorb A T 19: 18,957,328 L300* probably null Het
Sin3b T C 8: 72,731,105 C150R possibly damaging Het
Smarcc1 C A 9: 110,221,937 H942N probably damaging Het
Tas2r105 A G 6: 131,687,111 V118A probably benign Het
Tmem131 T C 1: 36,829,581 S388G probably damaging Het
Ttll9 C A 2: 153,002,889 probably benign Het
Ush1c A G 7: 46,209,901 L498P probably damaging Het
Vmn2r100 A G 17: 19,521,356 Y110C probably damaging Het
Zbtb11 T C 16: 56,006,007 Y800H probably damaging Het
Other mutations in Zdhhc20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Zdhhc20 APN 14 57873924 missense probably damaging 0.99
IGL00983:Zdhhc20 APN 14 57839156 missense possibly damaging 0.62
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
Posted On2013-06-21