Incidental Mutation 'IGL02748:Zdhhc20'
ID306165
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: 0.208) question?
Stock #IGL02748
Quality Score
Status
Chromosome14
Chromosomal Location57832703-57890276 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57858553 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 143 (S143P)
Ref Sequence ENSEMBL: ENSMUSP00000153568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089473] [ENSMUST00000226057]
Predicted Effect probably benign
Transcript: ENSMUST00000089473
AA Change: S143P

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000086900
Gene: ENSMUSG00000021969
AA Change: S143P

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 probably benign
Transcript: ENSMUST00000226057
AA Change: S143P

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baiap2l1 T A 5: 144,266,605 probably benign Het
Btbd9 T C 17: 30,334,297 N397S possibly damaging Het
Crlf3 A G 11: 80,059,319 S162P probably damaging Het
Dctn2 C T 10: 127,277,273 R231C probably damaging Het
Dhcr24 T C 4: 106,564,392 probably benign Het
Efcab12 T A 6: 115,820,102 T364S probably damaging Het
Eps8l3 A G 3: 107,879,368 probably benign Het
Ezh2 A G 6: 47,558,239 L92P probably damaging Het
Fbxw15 A G 9: 109,558,210 I239T possibly damaging Het
Fndc4 T C 5: 31,294,786 T96A possibly damaging Het
Gcn1l1 G A 5: 115,610,800 probably null Het
Ifna13 A G 4: 88,643,860 S176P probably damaging Het
Kcnh1 A G 1: 192,221,420 H56R probably damaging Het
Lrp1b T C 2: 40,702,749 D3786G probably damaging Het
Mcm3ap T A 10: 76,501,248 V1339E probably damaging Het
Mthfd1l T C 10: 4,018,587 V414A possibly damaging Het
Mthfd1l T G 10: 3,980,268 probably null Het
Olfr1118 T A 2: 87,309,665 L312Q probably damaging Het
Olfr1414 A G 1: 92,511,467 L187P probably damaging Het
Olfr262 A G 19: 12,240,840 F274L probably benign Het
Pcdhb15 T C 18: 37,475,220 S502P probably damaging Het
Pde5a T A 3: 122,760,892 N242K probably damaging Het
Pik3cb A T 9: 99,062,968 probably benign Het
Rab3gap1 A G 1: 127,937,461 M729V probably damaging Het
Rai14 A G 15: 10,589,335 V259A probably benign Het
Rassf4 T C 6: 116,639,457 I298V possibly damaging Het
Senp7 C T 16: 56,186,094 T927M probably damaging Het
Snx27 A T 3: 94,503,565 I426N probably benign Het
Syce1l A T 8: 113,655,465 probably benign Het
Tmem18 T C 12: 30,588,745 *141Q probably null Het
Tnrc6c T C 11: 117,732,170 S1006P probably benign Het
Utp20 T C 10: 88,817,295 T308A probably benign Het
Vmn2r24 T A 6: 123,816,098 C795S possibly 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
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
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 On2015-04-16