Incidental Mutation 'IGL00492:Zdhhc20'
ID 4180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc20
Ensembl Gene ENSMUSG00000021969
Gene Name zinc finger, DHHC domain containing 20
Synonyms 5033406L14Rik, 4930542A17Rik, ENSMUSG00000055956, B230110O18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # IGL00492
Quality Score
Status
Chromosome 14
Chromosomal Location 58070160-58127733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58111381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 73 (I73T)
Ref Sequence ENSEMBL: ENSMUSP00000153568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089473] [ENSMUST00000226057]
AlphaFold Q5Y5T1
Predicted Effect probably damaging
Transcript: ENSMUST00000089473
AA Change: I73T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086900
Gene: ENSMUSG00000021969
AA Change: I73T

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: I73T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap29 G T 3: 121,796,961 (GRCm39) E108* probably null Het
Braf A T 6: 39,637,933 (GRCm39) probably null Het
Calr3 G A 8: 73,185,240 (GRCm39) Q112* probably null Het
Dis3 A G 14: 99,320,110 (GRCm39) I649T probably damaging Het
Dop1b T C 16: 93,577,670 (GRCm39) V65A probably benign Het
Dpp4 A G 2: 62,209,646 (GRCm39) Y126H probably damaging Het
Dtwd2 A T 18: 49,856,776 (GRCm39) Y170* probably null Het
Efcab7 A G 4: 99,719,700 (GRCm39) T61A probably benign Het
Fbxl3 G T 14: 103,332,730 (GRCm39) L83M probably damaging Het
Fbxo17 A C 7: 28,434,766 (GRCm39) S184R probably damaging Het
Fcf1 T C 12: 85,029,106 (GRCm39) probably null Het
Hcrtr2 T C 9: 76,153,723 (GRCm39) Y223C probably damaging Het
Kcnn1 A G 8: 71,300,706 (GRCm39) F432S probably benign Het
Kmt2a C T 9: 44,719,231 (GRCm39) probably benign Het
Lce1j T C 3: 92,696,713 (GRCm39) T22A unknown Het
Lrfn5 T A 12: 61,890,912 (GRCm39) S734T probably benign Het
Lyst T A 13: 13,852,760 (GRCm39) S2253R possibly damaging Het
Msantd5f1 C T 4: 73,605,570 (GRCm39) T327I probably damaging Het
Myrfl G A 10: 116,632,011 (GRCm39) L645F possibly damaging Het
Nudt9 A G 5: 104,209,628 (GRCm39) probably benign Het
Ostn T A 16: 27,140,132 (GRCm39) M15K possibly damaging Het
Psg20 T C 7: 18,408,536 (GRCm39) T395A possibly damaging Het
Rpf1 G A 3: 146,218,002 (GRCm39) H171Y probably benign Het
Shprh A G 10: 11,063,902 (GRCm39) E1325G probably damaging Het
Slc22a8 G T 19: 8,571,499 (GRCm39) V77L probably benign Het
Tbck A C 3: 132,428,501 (GRCm39) K285N probably benign Het
Vmn1r86 C T 7: 12,836,468 (GRCm39) C86Y possibly damaging Het
Zfp512b T C 2: 181,228,862 (GRCm39) D701G probably damaging Het
Zfp735 T A 11: 73,602,192 (GRCm39) Y379N possibly damaging Het
Znfx1 G T 2: 166,878,843 (GRCm39) H980Q probably damaging Het
Other mutations in Zdhhc20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Zdhhc20 APN 14 58,076,613 (GRCm39) missense possibly damaging 0.62
IGL01107:Zdhhc20 APN 14 58,103,046 (GRCm39) missense probably damaging 1.00
IGL01350:Zdhhc20 APN 14 58,111,444 (GRCm39) missense probably benign 0.03
IGL02572:Zdhhc20 APN 14 58,127,564 (GRCm39) missense probably benign 0.20
IGL02748:Zdhhc20 APN 14 58,096,010 (GRCm39) missense probably benign 0.08
IGL03406:Zdhhc20 APN 14 58,076,556 (GRCm39) missense probably benign
R0314:Zdhhc20 UTSW 14 58,094,076 (GRCm39) missense probably damaging 1.00
R0631:Zdhhc20 UTSW 14 58,095,097 (GRCm39) missense probably damaging 0.99
R1144:Zdhhc20 UTSW 14 58,094,135 (GRCm39) missense probably benign 0.07
R1703:Zdhhc20 UTSW 14 58,076,545 (GRCm39) critical splice donor site probably null
R1815:Zdhhc20 UTSW 14 58,127,600 (GRCm39) missense probably benign 0.10
R1816:Zdhhc20 UTSW 14 58,127,600 (GRCm39) missense probably benign 0.10
R6219:Zdhhc20 UTSW 14 58,078,340 (GRCm39) missense probably damaging 0.99
R6488:Zdhhc20 UTSW 14 58,078,289 (GRCm39) missense probably benign 0.00
R6650:Zdhhc20 UTSW 14 58,096,032 (GRCm39) missense probably damaging 1.00
R6790:Zdhhc20 UTSW 14 58,127,600 (GRCm39) missense probably benign 0.00
R7196:Zdhhc20 UTSW 14 58,111,348 (GRCm39) critical splice donor site probably null
R7365:Zdhhc20 UTSW 14 58,111,377 (GRCm39) missense possibly damaging 0.95
R8126:Zdhhc20 UTSW 14 58,084,402 (GRCm39) missense probably damaging 1.00
R8832:Zdhhc20 UTSW 14 58,103,089 (GRCm39) missense probably benign 0.05
R8832:Zdhhc20 UTSW 14 58,080,721 (GRCm39) missense possibly damaging 0.86
R8885:Zdhhc20 UTSW 14 58,127,671 (GRCm39) start gained probably benign
Z1176:Zdhhc20 UTSW 14 58,076,562 (GRCm39) nonsense probably null
Posted On 2012-04-20