Incidental Mutation 'IGL01669:Zdhhc5'
ID103404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc5
Ensembl Gene ENSMUSG00000034075
Gene Namezinc finger, DHHC domain containing 5
Synonyms1110032A17Rik, Zisp
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.280) question?
Stock #IGL01669
Quality Score
Status
Chromosome2
Chromosomal Location84687970-84715180 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84691194 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 352 (Y352H)
Ref Sequence ENSEMBL: ENSMUSP00000048198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035840] [ENSMUST00000102645]
Predicted Effect probably damaging
Transcript: ENSMUST00000035840
AA Change: Y352H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048198
Gene: ENSMUSG00000034075
AA Change: Y352H

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 probably benign
Transcript: ENSMUST00000102645
SMART Domains Protein: ENSMUSP00000099705
Gene: ENSMUSG00000027080

DomainStartEndE-ValueType
low complexity region 24 55 N/A INTRINSIC
Pfam:Med19 63 234 4e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141595
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 G T X: 142,343,188 D313E probably damaging Het
Aifm3 A C 16: 17,503,541 K453T probably benign Het
Anks1b T C 10: 90,897,238 probably benign Het
Arfgef1 T C 1: 10,159,615 D1287G probably damaging Het
Bcl3 G A 7: 19,812,491 Q140* probably null Het
Bnipl T G 3: 95,242,734 R316S probably damaging Het
Cacna1i T A 15: 80,391,757 H1916Q probably benign Het
Ccdc171 C T 4: 83,681,195 A749V probably damaging Het
Ceacam18 G A 7: 43,645,515 G333E probably damaging Het
Cul7 G T 17: 46,658,715 M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 T144A probably benign Het
Cyp2c50 A T 19: 40,098,051 H294L probably damaging Het
D430041D05Rik T C 2: 104,254,961 K1081R probably damaging Het
D930020B18Rik A G 10: 121,683,961 K456R probably benign Het
Drd2 A G 9: 49,402,089 N186S possibly damaging Het
Fanci A T 7: 79,449,177 E1306D probably benign Het
Fbxl21 T A 13: 56,527,709 probably benign Het
Galk2 T A 2: 125,887,887 Y63N probably damaging Het
Git2 T C 5: 114,767,105 D97G probably damaging Het
Gm8258 T A 5: 104,776,074 noncoding transcript Het
Irf4 G T 13: 30,757,471 S270I probably damaging Het
Itgb3 C A 11: 104,633,390 probably benign Het
Itpr2 A C 6: 146,180,229 I2299R probably damaging Het
Lig4 T C 8: 9,973,673 I36V probably benign Het
Nedd9 A G 13: 41,338,635 V133A probably damaging Het
Nup133 A C 8: 123,939,130 Y185* probably null Het
Olfr1162 T C 2: 88,049,784 Y280C possibly damaging Het
Olfr623 A T 7: 103,660,987 F88I probably benign Het
Olfr788 A G 10: 129,473,211 H173R probably damaging Het
Pgbd5 T A 8: 124,374,399 T373S possibly damaging Het
Ppp1r8 T C 4: 132,828,169 E246G probably benign Het
Rmnd5b C T 11: 51,627,900 V89M probably damaging Het
Rnf123 T C 9: 108,058,356 I969V probably damaging Het
Ror2 A G 13: 53,111,088 I656T probably damaging Het
Sgsm1 T C 5: 113,263,490 E503G probably benign Het
Smgc T A 15: 91,860,684 S381T possibly damaging Het
Tlr4 T G 4: 66,841,267 F766V possibly damaging Het
Tnc T C 4: 64,000,701 T1162A probably damaging Het
Usp39 A G 6: 72,338,493 V156A probably damaging Het
Zfp646 A G 7: 127,878,965 T105A probably benign Het
Other mutations in Zdhhc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01795:Zdhhc5 APN 2 84690046 missense probably benign
IGL01862:Zdhhc5 APN 2 84690492 missense probably benign 0.01
PIT4449001:Zdhhc5 UTSW 2 84690227 missense probably damaging 1.00
R0270:Zdhhc5 UTSW 2 84690115 missense probably benign 0.06
R0419:Zdhhc5 UTSW 2 84691243 splice site probably null
R0543:Zdhhc5 UTSW 2 84692480 unclassified probably benign
R1171:Zdhhc5 UTSW 2 84692341 missense probably benign 0.00
R1450:Zdhhc5 UTSW 2 84702389 missense probably damaging 0.99
R1922:Zdhhc5 UTSW 2 84693427 missense probably damaging 0.99
R2229:Zdhhc5 UTSW 2 84690213 missense probably damaging 1.00
R4799:Zdhhc5 UTSW 2 84693431 missense probably damaging 0.97
R5473:Zdhhc5 UTSW 2 84690466 missense probably damaging 0.99
R5968:Zdhhc5 UTSW 2 84694375 synonymous probably null
R6299:Zdhhc5 UTSW 2 84690481 missense probably benign 0.06
R6550:Zdhhc5 UTSW 2 84696341 missense probably benign 0.03
R7069:Zdhhc5 UTSW 2 84715011 start gained probably benign
R7169:Zdhhc5 UTSW 2 84702331 critical splice donor site probably null
R7383:Zdhhc5 UTSW 2 84694404 missense probably benign 0.44
Posted On2014-01-21