Incidental Mutation 'R1450:Zdhhc5'
ID 162123
Institutional Source Beutler Lab
Gene Symbol Zdhhc5
Ensembl Gene ENSMUSG00000034075
Gene Name zinc finger, DHHC domain containing 5
Synonyms 1110032A17Rik, Zisp
MMRRC Submission 039505-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R1450 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84518314-84545524 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84532733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 57 (F57S)
Ref Sequence ENSEMBL: ENSMUSP00000048198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035840]
AlphaFold Q8VDZ4
Predicted Effect probably damaging
Transcript: ENSMUST00000035840
AA Change: F57S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048198
Gene: ENSMUSG00000034075
AA Change: F57S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
Pfam:zf-DHHC 99 224 1.6e-37 PFAM
low complexity region 312 318 N/A INTRINSIC
low complexity region 359 373 N/A INTRINSIC
low complexity region 422 432 N/A INTRINSIC
low complexity region 581 597 N/A INTRINSIC
low complexity region 679 695 N/A INTRINSIC
low complexity region 698 708 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184669
Meta Mutation Damage Score 0.8573 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 84.8%
Validation Efficiency 96% (73/76)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,380,531 (GRCm39) probably benign Het
Adh4 C T 3: 138,129,935 (GRCm39) P254S probably damaging Het
Amfr T C 8: 94,714,375 (GRCm39) T223A probably benign Het
Ank2 T C 3: 126,750,951 (GRCm39) T412A possibly damaging Het
Bag6 T A 17: 35,360,934 (GRCm39) D422E probably benign Het
Ccdc185 T G 1: 182,575,129 (GRCm39) Q520P possibly damaging Het
Cfap276 T A 3: 108,449,799 (GRCm39) probably null Het
Clock G A 5: 76,410,578 (GRCm39) Q98* probably null Het
Cngb3 A T 4: 19,395,922 (GRCm39) probably benign Het
Csmd1 T G 8: 15,995,180 (GRCm39) probably null Het
Cubn A G 2: 13,365,130 (GRCm39) L1636P probably damaging Het
Dennd4a A G 9: 64,818,947 (GRCm39) I1701V probably benign Het
Dgcr2 T C 16: 17,674,678 (GRCm39) H243R possibly damaging Het
Dimt1 A G 13: 107,084,151 (GRCm39) N46S probably benign Het
Dnah9 T C 11: 65,818,612 (GRCm39) Y58C probably damaging Het
Dsg1b T A 18: 20,542,241 (GRCm39) V916E probably damaging Het
Dst T C 1: 34,227,476 (GRCm39) S1690P probably damaging Het
Dst T A 1: 34,251,340 (GRCm39) I2131K probably damaging Het
Epb41l1 T C 2: 156,353,745 (GRCm39) probably benign Het
Fem1a T C 17: 56,564,579 (GRCm39) V224A probably damaging Het
Got2 C T 8: 96,598,614 (GRCm39) E203K probably benign Het
Hcar2 A T 5: 124,002,813 (GRCm39) I230N probably damaging Het
Herc3 A T 6: 58,853,500 (GRCm39) K554* probably null Het
Hfm1 A G 5: 107,066,324 (GRCm39) F35L probably damaging Het
Hmcn1 A G 1: 150,528,257 (GRCm39) probably benign Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hs2st1 C T 3: 144,140,479 (GRCm39) probably benign Het
Igfbp5 T A 1: 72,913,048 (GRCm39) D84V probably benign Het
Ints3 C A 3: 90,340,135 (GRCm39) L41F probably damaging Het
Ipo5 T C 14: 121,181,805 (GRCm39) V966A probably benign Het
Kif26a C T 12: 112,140,286 (GRCm39) T505M probably damaging Het
Kpna2 A G 11: 106,888,135 (GRCm39) S2P probably benign Het
Lct A G 1: 128,235,640 (GRCm39) S456P probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc7 T G 3: 157,892,681 (GRCm39) I323L possibly damaging Het
Ly6g A G 15: 75,030,482 (GRCm39) K77R probably benign Het
Maea T C 5: 33,523,144 (GRCm39) probably null Het
Marco A T 1: 120,404,474 (GRCm39) probably benign Het
Mcmbp G T 7: 128,317,655 (GRCm39) probably benign Het
Mtcl3 A T 10: 29,023,736 (GRCm39) N361I probably damaging Het
Mtr T A 13: 12,208,619 (GRCm39) R1017W probably damaging Het
Myo15a T A 11: 60,386,308 (GRCm39) I1811N probably damaging Het
Nbeal2 G A 9: 110,462,740 (GRCm39) probably benign Het
Nlrp10 A G 7: 108,524,595 (GRCm39) V295A probably damaging Het
Or10ak7 T C 4: 118,791,707 (GRCm39) T111A probably benign Het
Or51ac3 A G 7: 103,213,658 (GRCm39) V276A probably benign Het
Or5e1 A T 7: 108,354,719 (GRCm39) I219F probably damaging Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Peg12 C A 7: 62,113,324 (GRCm39) G258* probably null Het
Pigc A G 1: 161,798,822 (GRCm39) Y268C probably benign Het
Pnisr G T 4: 21,874,912 (GRCm39) probably null Het
Poteg T C 8: 27,937,871 (GRCm39) F5S probably benign Het
Prss40 T A 1: 34,595,178 (GRCm39) I101F probably benign Het
Ptges3l T A 11: 101,312,731 (GRCm39) D113V possibly damaging Het
Raver2 T C 4: 100,993,349 (GRCm39) S510P possibly damaging Het
Rgr A T 14: 36,766,641 (GRCm39) C94* probably null Het
Rp1l1 T A 14: 64,265,599 (GRCm39) I395N probably benign Het
Sesn3 T A 9: 14,227,520 (GRCm39) H168Q possibly damaging Het
Sox30 C A 11: 45,908,098 (GRCm39) P755Q probably damaging Het
Stac3 T C 10: 127,340,754 (GRCm39) F173S probably damaging Het
Synj2 C A 17: 6,077,599 (GRCm39) probably benign Het
Tars3 A T 7: 65,297,244 (GRCm39) I120L probably benign Het
Tas2r124 A G 6: 132,732,019 (GRCm39) I109M probably damaging Het
Tm4sf19 A T 16: 32,226,781 (GRCm39) H190L probably damaging Het
Tmem143 T G 7: 45,556,532 (GRCm39) V179G probably damaging Het
Ubr4 T C 4: 139,195,339 (GRCm39) F1187S probably damaging Het
Ubtfl1 A G 9: 18,321,209 (GRCm39) R246G possibly damaging Het
Zfp40 A T 17: 23,394,232 (GRCm39) M717K probably benign Het
Other mutations in Zdhhc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Zdhhc5 APN 2 84,521,538 (GRCm39) missense probably damaging 0.99
IGL01795:Zdhhc5 APN 2 84,520,390 (GRCm39) missense probably benign
IGL01862:Zdhhc5 APN 2 84,520,836 (GRCm39) missense probably benign 0.01
PIT4449001:Zdhhc5 UTSW 2 84,520,571 (GRCm39) missense probably damaging 1.00
R0270:Zdhhc5 UTSW 2 84,520,459 (GRCm39) missense probably benign 0.06
R0419:Zdhhc5 UTSW 2 84,521,587 (GRCm39) splice site probably null
R0543:Zdhhc5 UTSW 2 84,522,824 (GRCm39) unclassified probably benign
R1171:Zdhhc5 UTSW 2 84,522,685 (GRCm39) missense probably benign 0.00
R1922:Zdhhc5 UTSW 2 84,523,771 (GRCm39) missense probably damaging 0.99
R2229:Zdhhc5 UTSW 2 84,520,557 (GRCm39) missense probably damaging 1.00
R4799:Zdhhc5 UTSW 2 84,523,775 (GRCm39) missense probably damaging 0.97
R5473:Zdhhc5 UTSW 2 84,520,810 (GRCm39) missense probably damaging 0.99
R5968:Zdhhc5 UTSW 2 84,524,719 (GRCm39) splice site probably null
R6299:Zdhhc5 UTSW 2 84,520,825 (GRCm39) missense probably benign 0.06
R6550:Zdhhc5 UTSW 2 84,526,685 (GRCm39) missense probably benign 0.03
R7069:Zdhhc5 UTSW 2 84,545,355 (GRCm39) start gained probably benign
R7169:Zdhhc5 UTSW 2 84,532,675 (GRCm39) critical splice donor site probably null
R7383:Zdhhc5 UTSW 2 84,524,748 (GRCm39) missense probably benign 0.44
R8703:Zdhhc5 UTSW 2 84,520,596 (GRCm39) missense probably benign 0.06
R9647:Zdhhc5 UTSW 2 84,524,750 (GRCm39) missense probably benign 0.01
R9789:Zdhhc5 UTSW 2 84,524,662 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGATAGTAGGCGAACACAGAGCAGAT -3'
(R):5'- CTGGGACACTGATGGATAGGAACGA -3'

Sequencing Primer
(F):5'- ctcacaaccatctgtaacaaaaatc -3'
(R):5'- GATAGGAACGATAAAGCTAATCTGTG -3'
Posted On 2014-03-14