Incidental Mutation 'IGL02941:Zdhhc13'
ID364519
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 #IGL02941
Quality Score
Status
Chromosome7
Chromosomal Location48789003-48827440 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 48817138 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118927] [ENSMUST00000125280]
Predicted Effect probably benign
Transcript: ENSMUST00000118927
SMART Domains Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471

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
SMART Domains Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik G A 7: 50,599,536 R106Q probably damaging Het
Amhr2 T C 15: 102,447,289 V223A probably damaging Het
Aqr T A 2: 114,113,354 H1101L probably damaging Het
Arnt T A 3: 95,460,370 probably benign Het
Cacnb2 G A 2: 14,958,829 V85I probably benign Het
Cast A T 13: 74,700,687 D727E probably damaging Het
Ccdc134 C T 15: 82,140,950 R217W probably damaging Het
Col5a3 A G 9: 20,804,666 S360P unknown Het
Cyp4f16 T C 17: 32,537,087 I30T possibly damaging Het
Dopey2 T C 16: 93,755,473 F267L probably benign Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Gm4953 C T 1: 159,168,393 noncoding transcript Het
Gm9242 T C 16: 97,491,079 probably benign Het
Gsr G A 8: 33,689,425 V354I probably damaging Het
Hecw1 T A 13: 14,377,726 D96V probably damaging Het
Hist2h2be A G 3: 96,221,416 Y84C possibly damaging Het
Il18r1 A G 1: 40,498,551 Y492C probably damaging Het
Itgb5 T G 16: 33,944,095 probably benign Het
Lars2 T G 9: 123,459,585 L832R probably damaging Het
Ms4a6c A G 19: 11,471,102 probably benign Het
Nrxn1 T C 17: 90,208,383 S1227G probably damaging Het
Olfr15 T C 16: 3,839,816 V281A possibly damaging Het
Olfr339 T C 2: 36,422,120 C241R probably damaging Het
Olfr584 A G 7: 103,086,321 T263A probably benign Het
Pcdh17 A G 14: 84,448,307 Y738C probably damaging Het
Pcsk5 C A 19: 17,447,501 C1646F probably damaging Het
Pirb A G 7: 3,717,378 V332A probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polrmt A T 10: 79,737,258 probably benign Het
Saxo1 G T 4: 86,445,584 R221S probably damaging Het
Specc1l A G 10: 75,241,188 I93V probably benign Het
St8sia2 T A 7: 73,976,649 probably benign Het
Tep1 A T 14: 50,866,037 N265K probably damaging Het
Thbd A T 2: 148,407,034 Y305N probably damaging Het
Tmem120a T C 5: 135,735,751 T325A probably damaging Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Vill G A 9: 119,066,887 probably benign Het
Wdr35 A G 12: 9,027,507 D1060G probably damaging Het
Xrn2 T A 2: 147,026,524 F166I probably damaging Het
Zc3h7a T G 16: 11,158,594 probably null Het
Zfp808 T A 13: 62,173,130 N724K possibly damaging Het
Other mutations in Zdhhc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Zdhhc13 APN 7 48805601 missense probably benign 0.00
IGL01820:Zdhhc13 APN 7 48808865 missense probably damaging 1.00
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
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
X0021:Zdhhc13 UTSW 7 48805215 missense possibly damaging 0.79
Posted On2015-12-18