Incidental Mutation 'IGL01820:Zdhhc13'
ID 154500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc13
Ensembl Gene ENSMUSG00000030471
Gene Name zinc finger, DHHC domain containing 13
Synonyms Hip14l, kojak, skc4, 2410004E01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01820
Quality Score
Status
Chromosome 7
Chromosomal Location 48438751-48477188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48458613 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CWU2
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: 8,765,896 (GRCm39) probably benign Het
Adcy2 T C 13: 68,886,664 (GRCm39) probably null Het
Akna G T 4: 63,304,495 (GRCm39) T553N probably benign Het
Boc A G 16: 44,312,235 (GRCm39) I609T possibly damaging Het
Btbd9 C T 17: 30,746,383 (GRCm39) V148I possibly damaging Het
Cacna1d A T 14: 29,764,823 (GRCm39) I2049N possibly damaging Het
Cdhr1 A T 14: 36,807,536 (GRCm39) M368K probably benign Het
Cftr A G 6: 18,226,138 (GRCm39) Y362C probably damaging Het
Cnppd1 G T 1: 75,116,236 (GRCm39) probably null Het
Col3a1 T C 1: 45,360,768 (GRCm39) I66T unknown Het
Col5a2 C A 1: 45,481,985 (GRCm39) M46I unknown Het
Csmd3 G T 15: 47,470,538 (GRCm39) C3379* probably null Het
Ctla2b T A 13: 61,044,503 (GRCm39) *28C probably null Het
Ddhd2 C T 8: 26,239,781 (GRCm39) E33K possibly damaging Het
Dock3 T C 9: 106,773,092 (GRCm39) H387R probably damaging Het
Dyrk1b T A 7: 27,881,025 (GRCm39) probably benign Het
Fam131c T C 4: 141,107,648 (GRCm39) C53R probably damaging Het
Fat1 T A 8: 45,463,539 (GRCm39) F1360L probably damaging Het
Gm10320 G T 13: 98,626,045 (GRCm39) S113* probably null Het
Ifih1 T C 2: 62,447,657 (GRCm39) D349G probably damaging Het
Il12a T C 3: 68,599,495 (GRCm39) probably benign Het
Ivl A T 3: 92,478,940 (GRCm39) M375K possibly damaging Het
Krt82 C A 15: 101,451,887 (GRCm39) probably benign Het
Mc4r C T 18: 66,992,226 (GRCm39) V296I probably benign Het
Met T A 6: 17,534,230 (GRCm39) I691N possibly damaging Het
Mycbp2 A T 14: 103,425,937 (GRCm39) I2396K probably damaging Het
Napg C A 18: 63,119,516 (GRCm39) Q135K probably benign Het
Nf2 A T 11: 4,739,655 (GRCm39) probably null Het
Nrxn1 G T 17: 90,950,531 (GRCm39) H549Q probably damaging Het
P4ha1 T A 10: 59,197,736 (GRCm39) I321K probably damaging Het
Prl5a1 T C 13: 28,332,683 (GRCm39) S94P probably benign Het
Prnp T C 2: 131,778,990 (GRCm39) V214A probably benign Het
Ptprc A T 1: 137,993,936 (GRCm39) F1165I probably damaging Het
Rdh10 T C 1: 16,198,483 (GRCm39) V207A possibly damaging Het
Rel A T 11: 23,703,218 (GRCm39) N131K probably benign Het
Rgs14 A T 13: 55,531,338 (GRCm39) D448V probably benign Het
Spag5 T G 11: 78,195,085 (GRCm39) S131A probably benign Het
Styxl1 C T 5: 135,794,604 (GRCm39) D88N probably damaging Het
Tlr3 C T 8: 45,851,376 (GRCm39) R507H probably benign Het
Ttn C T 2: 76,616,670 (GRCm39) E16528K possibly damaging Het
Txlnb T C 10: 17,682,606 (GRCm39) probably null Het
Unc13a A G 8: 72,107,591 (GRCm39) V567A probably damaging Het
Vmn1r8 T C 6: 57,013,653 (GRCm39) S235P possibly damaging Het
Vmn2r51 T A 7: 9,839,409 (GRCm39) N60Y probably damaging Het
Wbp1l T A 19: 46,640,922 (GRCm39) L68Q probably damaging Het
Wdfy3 A T 5: 102,071,947 (GRCm39) V981E probably benign Het
Zfp516 C T 18: 83,005,486 (GRCm39) R797C probably benign Het
Zp3r A G 1: 130,526,657 (GRCm39) V182A probably benign Het
Other mutations in Zdhhc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Zdhhc13 APN 7 48,455,349 (GRCm39) missense probably benign 0.00
IGL02941:Zdhhc13 APN 7 48,466,886 (GRCm39) splice site probably benign
bernard UTSW 7 48,476,621 (GRCm39) missense probably damaging 1.00
brindle UTSW 7 48,474,479 (GRCm39) missense possibly damaging 0.47
oxidized UTSW 7 48,466,175 (GRCm39) missense probably benign 0.04
rusty UTSW 7 48,474,392 (GRCm39) missense possibly damaging 0.95
zephiro UTSW 7 48,461,103 (GRCm39) nonsense probably null
PIT4445001:Zdhhc13 UTSW 7 48,445,697 (GRCm39) missense probably benign 0.00
R0456:Zdhhc13 UTSW 7 48,458,602 (GRCm39) missense probably benign 0.03
R1398:Zdhhc13 UTSW 7 48,476,621 (GRCm39) missense probably damaging 1.00
R1785:Zdhhc13 UTSW 7 48,474,392 (GRCm39) missense possibly damaging 0.95
R1786:Zdhhc13 UTSW 7 48,474,392 (GRCm39) missense possibly damaging 0.95
R2066:Zdhhc13 UTSW 7 48,466,175 (GRCm39) missense probably benign 0.04
R2131:Zdhhc13 UTSW 7 48,474,392 (GRCm39) missense possibly damaging 0.95
R2133:Zdhhc13 UTSW 7 48,474,392 (GRCm39) missense possibly damaging 0.95
R2405:Zdhhc13 UTSW 7 48,472,478 (GRCm39) splice site probably null
R3770:Zdhhc13 UTSW 7 48,452,692 (GRCm39) missense probably damaging 1.00
R4374:Zdhhc13 UTSW 7 48,458,589 (GRCm39) missense probably damaging 1.00
R4772:Zdhhc13 UTSW 7 48,449,621 (GRCm39) missense probably benign 0.24
R5052:Zdhhc13 UTSW 7 48,474,479 (GRCm39) missense possibly damaging 0.47
R5455:Zdhhc13 UTSW 7 48,455,323 (GRCm39) missense possibly damaging 0.95
R6418:Zdhhc13 UTSW 7 48,461,149 (GRCm39) missense possibly damaging 0.94
R6502:Zdhhc13 UTSW 7 48,465,308 (GRCm39) missense possibly damaging 0.95
R7136:Zdhhc13 UTSW 7 48,451,080 (GRCm39) missense probably benign
R7467:Zdhhc13 UTSW 7 48,454,156 (GRCm39) missense probably benign 0.02
R7485:Zdhhc13 UTSW 7 48,461,103 (GRCm39) nonsense probably null
R7723:Zdhhc13 UTSW 7 48,458,567 (GRCm39) missense probably benign
R8297:Zdhhc13 UTSW 7 48,465,257 (GRCm39) missense probably damaging 0.96
R8356:Zdhhc13 UTSW 7 48,452,747 (GRCm39) missense probably damaging 1.00
R8385:Zdhhc13 UTSW 7 48,455,444 (GRCm39) critical splice donor site probably null
R8456:Zdhhc13 UTSW 7 48,452,747 (GRCm39) missense probably damaging 1.00
R9346:Zdhhc13 UTSW 7 48,472,328 (GRCm39) missense probably benign 0.18
R9397:Zdhhc13 UTSW 7 48,476,628 (GRCm39) missense probably benign
X0021:Zdhhc13 UTSW 7 48,454,963 (GRCm39) missense possibly damaging 0.79
Posted On 2014-02-04