Incidental Mutation 'IGL01820:Zdhhc13'
ID154500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc13
Ensembl Gene ENSMUSG00000030471
Gene Namezinc finger, DHHC domain containing 13
Synonymskojak, Hip14l, skc4, 2410004E01Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01820
Quality Score
Status
Chromosome7
Chromosomal Location48789003-48827440 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48808865 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 316 (S316P)
Ref Sequence ENSEMBL: ENSMUSP00000112498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118927] [ENSMUST00000125280]
Predicted Effect probably damaging
Transcript: ENSMUST00000118927
AA Change: S316P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
AA Change: S316P

DomainStartEndE-ValueType
Blast:ANK 48 77 1e-9 BLAST
ANK 81 110 3.08e-1 SMART
ANK 115 144 4.39e-6 SMART
ANK 148 177 2.37e-2 SMART
ANK 181 211 5.19e2 SMART
ANK 216 245 8.07e-5 SMART
ANK 249 277 1.09e3 SMART
transmembrane domain 292 310 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
transmembrane domain 344 366 N/A INTRINSIC
transmembrane domain 373 392 N/A INTRINSIC
Pfam:zf-DHHC 421 558 1.1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125280
AA Change: S186P

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471
AA Change: S186P

DomainStartEndE-ValueType
ANK 18 47 2.37e-2 SMART
ANK 51 81 5.19e2 SMART
ANK 86 115 8.07e-5 SMART
ANK 119 147 1.09e3 SMART
transmembrane domain 160 182 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 214 236 N/A INTRINSIC
Pfam:zf-DHHC 258 428 1.1e-35 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU mutation display wasting, weight loss, hair loss (alopecia), reduced bone mineral density (osteoporosis), and generalized amyloid deposition, which resulted in early death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,715,896 probably benign Het
Adcy2 T C 13: 68,738,545 probably null Het
Akna G T 4: 63,386,258 T553N probably benign Het
Boc A G 16: 44,491,872 I609T possibly damaging Het
Btbd9 C T 17: 30,527,409 V148I possibly damaging Het
Cacna1d A T 14: 30,042,866 I2049N possibly damaging Het
Cdhr1 A T 14: 37,085,579 M368K probably benign Het
Cftr A G 6: 18,226,139 Y362C probably damaging Het
Cnppd1 G T 1: 75,139,592 probably null Het
Col3a1 T C 1: 45,321,608 I66T unknown Het
Col5a2 C A 1: 45,442,825 M46I unknown Het
Csmd3 G T 15: 47,607,142 C3379* probably null Het
Ctla2b T A 13: 60,896,689 *28C probably null Het
Ddhd2 C T 8: 25,749,754 E33K possibly damaging Het
Dock3 T C 9: 106,895,893 H387R probably damaging Het
Dyrk1b T A 7: 28,181,600 probably benign Het
Fam131c T C 4: 141,380,337 C53R probably damaging Het
Fat1 T A 8: 45,010,502 F1360L probably damaging Het
Gm10320 G T 13: 98,489,537 S113* probably null Het
Ifih1 T C 2: 62,617,313 D349G probably damaging Het
Il12a T C 3: 68,692,162 probably benign Het
Ivl A T 3: 92,571,633 M375K possibly damaging Het
Krt82 C A 15: 101,543,452 probably benign Het
Mc4r C T 18: 66,859,155 V296I probably benign Het
Met T A 6: 17,534,231 I691N possibly damaging Het
Mycbp2 A T 14: 103,188,501 I2396K probably damaging Het
Napg C A 18: 62,986,445 Q135K probably benign Het
Nf2 A T 11: 4,789,655 probably null Het
Nrxn1 G T 17: 90,643,103 H549Q probably damaging Het
P4ha1 T A 10: 59,361,914 I321K probably damaging Het
Prl5a1 T C 13: 28,148,700 S94P probably benign Het
Prnp T C 2: 131,937,070 V214A probably benign Het
Ptprc A T 1: 138,066,198 F1165I probably damaging Het
Rdh10 T C 1: 16,128,259 V207A possibly damaging Het
Rel A T 11: 23,753,218 N131K probably benign Het
Rgs14 A T 13: 55,383,525 D448V probably benign Het
Spag5 T G 11: 78,304,259 S131A probably benign Het
Styxl1 C T 5: 135,765,750 D88N probably damaging Het
Tlr3 C T 8: 45,398,339 R507H probably benign Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Txlnb T C 10: 17,806,858 probably null Het
Unc13a A G 8: 71,654,947 V567A probably damaging Het
Vmn1r8 T C 6: 57,036,668 S235P possibly damaging Het
Vmn2r51 T A 7: 10,105,482 N60Y probably damaging Het
Wbp1l T A 19: 46,652,483 L68Q probably damaging Het
Wdfy3 A T 5: 101,924,081 V981E probably benign Het
Zfp516 C T 18: 82,987,361 R797C probably benign Het
Zp3r A G 1: 130,598,920 V182A probably benign Het
Other mutations in Zdhhc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Zdhhc13 APN 7 48805601 missense probably benign 0.00
IGL02941:Zdhhc13 APN 7 48817138 splice site probably benign
bernard UTSW 7 48826873 missense probably damaging 1.00
brindle UTSW 7 48824731 missense possibly damaging 0.47
oxidized UTSW 7 48816427 missense probably benign 0.04
rusty UTSW 7 48824644 missense possibly damaging 0.95
zephiro UTSW 7 48811355 nonsense probably null
PIT4445001:Zdhhc13 UTSW 7 48795949 missense probably benign 0.00
R0456:Zdhhc13 UTSW 7 48808854 missense probably benign 0.03
R1398:Zdhhc13 UTSW 7 48826873 missense probably damaging 1.00
R1785:Zdhhc13 UTSW 7 48824644 missense possibly damaging 0.95
R1786:Zdhhc13 UTSW 7 48824644 missense possibly damaging 0.95
R2066:Zdhhc13 UTSW 7 48816427 missense probably benign 0.04
R2131:Zdhhc13 UTSW 7 48824644 missense possibly damaging 0.95
R2133:Zdhhc13 UTSW 7 48824644 missense possibly damaging 0.95
R2405:Zdhhc13 UTSW 7 48822730 splice site probably null
R3770:Zdhhc13 UTSW 7 48802944 missense probably damaging 1.00
R4374:Zdhhc13 UTSW 7 48808841 missense probably damaging 1.00
R4772:Zdhhc13 UTSW 7 48799873 missense probably benign 0.24
R5052:Zdhhc13 UTSW 7 48824731 missense possibly damaging 0.47
R5455:Zdhhc13 UTSW 7 48805575 missense possibly damaging 0.95
R6418:Zdhhc13 UTSW 7 48811401 missense possibly damaging 0.94
R6502:Zdhhc13 UTSW 7 48815560 missense possibly damaging 0.95
R7136:Zdhhc13 UTSW 7 48801332 missense probably benign
R7467:Zdhhc13 UTSW 7 48804408 missense probably benign 0.02
R7485:Zdhhc13 UTSW 7 48811355 nonsense probably null
R7723:Zdhhc13 UTSW 7 48808819 missense probably benign
R8297:Zdhhc13 UTSW 7 48815509 missense probably damaging 0.96
R8356:Zdhhc13 UTSW 7 48802999 missense probably damaging 1.00
R8385:Zdhhc13 UTSW 7 48805696 critical splice donor site probably null
R8456:Zdhhc13 UTSW 7 48802999 missense probably damaging 1.00
X0021:Zdhhc13 UTSW 7 48805215 missense possibly damaging 0.79
Posted On2014-02-04