Incidental Mutation 'R4374:Zdhhc13'
ID 325029
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 041118-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4374 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 48438751-48477188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48458589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 308 (Y308H)
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: Y308H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
AA Change: Y308H

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: Y178H

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123603
Gene: ENSMUSG00000030471
AA Change: Y178H

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 0.1215 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (38/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 A G 7: 78,973,278 (GRCm39) M86V probably benign Het
Acin1 C A 14: 54,891,351 (GRCm39) probably benign Het
Aebp2 T A 6: 140,599,984 (GRCm39) probably benign Het
Akap13 A G 7: 75,258,732 (GRCm39) E452G probably damaging Het
Amz1 T C 5: 140,738,194 (GRCm39) S184P possibly damaging Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Ccdc83 A T 7: 89,875,986 (GRCm39) L295* probably null Het
Cd209c T C 8: 4,004,635 (GRCm39) noncoding transcript Het
Cpsf7 A T 19: 10,517,001 (GRCm39) I368F probably damaging Het
Csf1r G A 18: 61,252,078 (GRCm39) C520Y probably damaging Het
Dapk1 A G 13: 60,867,498 (GRCm39) D235G probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Fktn T C 4: 53,720,201 (GRCm39) S72P probably damaging Het
Frem2 C A 3: 53,452,923 (GRCm39) V2189F possibly damaging Het
Gm10845 G T 14: 80,100,563 (GRCm39) noncoding transcript Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lama1 A G 17: 68,111,513 (GRCm39) M2255V probably benign Het
Lrsam1 G T 2: 32,845,203 (GRCm39) T104K possibly damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Myo7a G A 7: 97,751,881 (GRCm39) T54M probably damaging Het
Or52ae7 T C 7: 103,119,278 (GRCm39) S11P probably damaging Het
Or5k15 A C 16: 58,710,242 (GRCm39) C114G probably benign Het
Osbpl8 T A 10: 111,105,280 (GRCm39) I245N possibly damaging Het
Pfkp A G 13: 6,671,025 (GRCm39) S135P probably damaging Het
Phf20l1 C T 15: 66,476,686 (GRCm39) T260I possibly damaging Het
Pole T A 5: 110,485,071 (GRCm39) I395K possibly damaging Het
Ppp6r2 T G 15: 89,149,361 (GRCm39) C216W probably damaging Het
Pramel7 C T 2: 87,320,415 (GRCm39) A293T probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Setbp1 T C 18: 78,903,137 (GRCm39) R177G probably damaging Het
Sh2b3 G T 5: 121,966,549 (GRCm39) probably benign Het
Tbc1d30 A G 10: 121,130,617 (GRCm39) F271S probably damaging Het
Tpo T C 12: 30,153,151 (GRCm39) E401G possibly damaging Het
Zfp112 C T 7: 23,825,798 (GRCm39) H589Y probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACCCTACAGTTTAGTCTGGATTG -3'
(R):5'- GGATGCTGTCACATGGTTCAG -3'

Sequencing Primer
(F):5'- CCTTTTAAGAATGCCATTTTTGAGGG -3'
(R):5'- GCTTAATGTCAATTTGAAATTCCAGC -3'
Posted On 2015-07-06