Incidental Mutation 'R6418:Zdhhc13'
ID 518072
Institutional Source Beutler Lab
Gene Symbol Zdhhc13
Ensembl Gene ENSMUSG00000030471
Gene Name zinc finger, DHHC domain containing 13
Synonyms Hip14l, kojak, skc4, 2410004E01Rik
MMRRC Submission 044560-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6418 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 48438751-48477188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48461149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 362 (T362A)
Ref Sequence ENSEMBL: ENSMUSP00000112498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118927] [ENSMUST00000125280]
AlphaFold Q9CWU2
Predicted Effect possibly damaging
Transcript: ENSMUST00000118927
AA Change: T362A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
AA Change: T362A

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 possibly damaging
Transcript: ENSMUST00000125280
AA Change: T232A

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471
AA Change: T232A

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
Meta Mutation Damage Score 0.1868 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.8%
Validation Efficiency 99% (67/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930507D05Rik C T 10: 62,285,441 (GRCm39) A55V unknown Het
Adra1b T G 11: 43,667,028 (GRCm39) D403A probably benign Het
Ankdd1b A T 13: 96,597,405 (GRCm39) L9Q probably damaging Het
Ankrd17 A T 5: 90,426,204 (GRCm39) S789R possibly damaging Het
B3galnt1 A G 3: 69,482,326 (GRCm39) S312P probably damaging Het
C4bp C T 1: 130,583,750 (GRCm39) V73M probably damaging Het
Ccdc121rt2 T C 5: 112,598,019 (GRCm39) S189P probably benign Het
Cenpe T A 3: 134,957,305 (GRCm39) N1854K probably damaging Het
Chrm2 A C 6: 36,500,674 (GRCm39) Y177S probably damaging Het
Clca4b C T 3: 144,633,996 (GRCm39) V140I probably benign Het
Csad A G 15: 102,087,958 (GRCm39) S322P probably damaging Het
Depdc1b T G 13: 108,493,956 (GRCm39) Y115D probably damaging Het
Dnah17 T C 11: 118,020,023 (GRCm39) Y8C probably damaging Het
Dsg3 T C 18: 20,656,817 (GRCm39) probably null Het
Elf5 A G 2: 103,269,697 (GRCm39) T93A possibly damaging Het
Eogt C T 6: 97,122,353 (GRCm39) D27N possibly damaging Het
Fam118b T C 9: 35,146,633 (GRCm39) D78G probably damaging Het
Fhip2a T A 19: 57,370,166 (GRCm39) M470K probably benign Het
Frem3 A G 8: 81,337,781 (GRCm39) T25A probably benign Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Golm1 T C 13: 59,813,375 (GRCm39) Y32C probably damaging Het
Has1 A T 17: 18,070,207 (GRCm39) V238E probably damaging Het
Hkdc1 T C 10: 62,219,583 (GRCm39) R907G possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Krtap24-1 C T 16: 88,408,761 (GRCm39) V122I probably damaging Het
Lrrc10 T G 10: 116,881,616 (GRCm39) L97V probably damaging Het
Map3k20 T A 2: 72,232,457 (GRCm39) M371K probably benign Het
Mis18bp1 A T 12: 65,205,317 (GRCm39) M2K possibly damaging Het
Mob3b T A 4: 34,954,049 (GRCm39) probably null Het
Muc4 A G 16: 32,570,607 (GRCm39) T556A possibly damaging Het
Muc6 A C 7: 141,224,032 (GRCm39) probably benign Het
Ncapg A T 5: 45,839,158 (GRCm39) L519F probably damaging Het
Nfix A G 8: 85,453,778 (GRCm39) S265P probably benign Het
Or13p10 T A 4: 118,522,808 (GRCm39) F31L possibly damaging Het
Or4c121 T C 2: 89,023,823 (GRCm39) K185R probably damaging Het
Or4k49 T C 2: 111,494,817 (GRCm39) V82A probably benign Het
Or52e5 T C 7: 104,719,514 (GRCm39) L280P probably damaging Het
Or8g35 C A 9: 39,381,112 (GRCm39) K303N probably benign Het
Osgin2 T C 4: 16,006,410 (GRCm39) T95A probably benign Het
Parp4 T C 14: 56,858,108 (GRCm39) probably null Het
Pcdh7 G A 5: 57,879,046 (GRCm39) G867D probably damaging Het
Pcdhb22 T C 18: 37,652,959 (GRCm39) S476P possibly damaging Het
Phldb1 A G 9: 44,623,197 (GRCm39) I619T probably damaging Het
Ppp1r13l C T 7: 19,105,256 (GRCm39) R343C probably damaging Het
Rab2b T A 14: 52,506,164 (GRCm39) probably benign Het
Rims2 A T 15: 39,373,092 (GRCm39) E972V probably damaging Het
Slc26a9 G T 1: 131,686,228 (GRCm39) C337F probably benign Het
Spty2d1 A G 7: 46,647,751 (GRCm39) S393P probably damaging Het
Stkld1 A T 2: 26,831,093 (GRCm39) N90I possibly damaging Het
Svep1 T A 4: 58,053,126 (GRCm39) R3406S probably benign Het
Svil A T 18: 5,040,171 (GRCm39) D48V probably benign Het
Thsd7a T A 6: 12,555,081 (GRCm39) K268* probably null Het
Tmc6 A G 11: 117,661,326 (GRCm39) L618P probably damaging Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Ube2q2l C A 6: 136,378,099 (GRCm39) D244Y probably damaging Het
Ubn1 A G 16: 4,899,791 (GRCm39) H1101R probably benign Het
Upf2 G A 2: 6,032,150 (GRCm39) V899I unknown Het
Ush2a A T 1: 188,360,763 (GRCm39) N2161I probably damaging Het
Usp25 A T 16: 76,859,330 (GRCm39) D276V probably damaging Het
Vmn2r68 T A 7: 84,882,915 (GRCm39) H279L probably benign Het
Vps13d G A 4: 144,818,850 (GRCm39) R3019W probably damaging Het
Vsig10 A T 5: 117,486,361 (GRCm39) E423D probably benign Het
Wdfy2 T A 14: 63,162,582 (GRCm39) F95I probably benign Het
Xrn1 A G 9: 95,915,763 (GRCm39) probably null Het
Zfp984 C T 4: 147,845,703 (GRCm39) S2N probably benign Het
Other mutations in Zdhhc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Zdhhc13 APN 7 48,455,349 (GRCm39) missense probably benign 0.00
IGL01820:Zdhhc13 APN 7 48,458,613 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CTGCTGCTGGTGTAACTGTC -3'
(R):5'- ACTGGACATGTGTATGCTGTTAC -3'

Sequencing Primer
(F):5'- GCTGGTGTAACTGTCATTGTTATTG -3'
(R):5'- GATAGGGTTTCTCAGTGTAACCATCC -3'
Posted On 2018-05-24