Incidental Mutation 'IGL01315:Zdhhc1'
ID73825
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc1
Ensembl Gene ENSMUSG00000039199
Gene Namezinc finger, DHHC domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01315
Quality Score
Status
Chromosome8
Chromosomal Location105472423-105496902 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105472998 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 389 (R389S)
Ref Sequence ENSEMBL: ENSMUSP00000148381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014990] [ENSMUST00000044286] [ENSMUST00000176419] [ENSMUST00000177126] [ENSMUST00000212303]
Predicted Effect probably benign
Transcript: ENSMUST00000014990
SMART Domains Protein: ENSMUSP00000014990
Gene: ENSMUSG00000014846

DomainStartEndE-ValueType
Pfam:p25-alpha 11 172 1.2e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044286
AA Change: R389S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036471
Gene: ENSMUSG00000039199
AA Change: R389S

DomainStartEndE-ValueType
transmembrane domain 49 71 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Pfam:zf-DHHC 126 282 2.5e-38 PFAM
low complexity region 359 371 N/A INTRINSIC
low complexity region 383 392 N/A INTRINSIC
low complexity region 395 411 N/A INTRINSIC
low complexity region 414 426 N/A INTRINSIC
low complexity region 468 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176419
SMART Domains Protein: ENSMUSP00000134807
Gene: ENSMUSG00000014846

DomainStartEndE-ValueType
Pfam:p25-alpha 10 174 9e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177126
SMART Domains Protein: ENSMUSP00000135040
Gene: ENSMUSG00000014846

DomainStartEndE-ValueType
Pfam:p25-alpha 10 174 9e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212109
Predicted Effect probably benign
Transcript: ENSMUST00000212303
AA Change: R389S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 T C 5: 30,893,234 S409P probably benign Het
Ankdd1a T A 9: 65,508,702 H187L probably damaging Het
Ap2a1 A T 7: 44,916,289 D51E possibly damaging Het
Cog5 T A 12: 31,760,986 probably benign Het
Eif3h T C 15: 51,842,485 D91G probably damaging Het
Ell2 A G 13: 75,762,232 probably benign Het
Epha4 A G 1: 77,398,557 V551A probably benign Het
Gpc2 A G 5: 138,276,039 S354P probably benign Het
Gramd1a A G 7: 31,142,568 F140L probably damaging Het
Hnmt A G 2: 24,019,168 Y78H probably benign Het
Ighe T A 12: 113,271,352 H396L unknown Het
Krt83 A G 15: 101,486,967 probably benign Het
Mgat5b T C 11: 116,923,389 S40P probably damaging Het
Mov10 A G 3: 104,795,945 V876A probably damaging Het
Nbeal1 T C 1: 60,281,341 V2031A probably damaging Het
Nov T C 15: 54,749,260 S222P probably damaging Het
Ntm T A 9: 29,014,184 S26C probably damaging Het
Pcsk5 G A 19: 17,451,958 T1552I probably damaging Het
Pex1 A T 5: 3,609,975 D453V probably damaging Het
Pkd2l1 C T 19: 44,192,196 D27N probably benign Het
Plppr5 G T 3: 117,662,526 C232F probably damaging Het
Slc39a2 G T 14: 51,895,136 E179* probably null Het
Slc8a3 A G 12: 81,314,395 V550A probably damaging Het
Smc5 T A 19: 23,231,604 T626S probably benign Het
Tars A C 15: 11,389,734 Y363* probably null Het
Unc79 T C 12: 103,088,521 I906T possibly damaging Het
Ush2a C T 1: 188,633,614 P2222S possibly damaging Het
Wdr31 A C 4: 62,455,837 V306G probably damaging Het
Other mutations in Zdhhc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
hacked UTSW 8 105483744 frame shift probably null
middleman UTSW 8 105483647 missense probably damaging 1.00
R0329:Zdhhc1 UTSW 8 105483543 missense probably benign 0.04
R1898:Zdhhc1 UTSW 8 105478746 splice site probably null
R2511:Zdhhc1 UTSW 8 105483558 missense probably benign 0.16
R4734:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4741:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4795:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4818:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4819:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4822:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4871:Zdhhc1 UTSW 8 105483744 frame shift probably null
R4891:Zdhhc1 UTSW 8 105473017 missense probably benign 0.00
R4901:Zdhhc1 UTSW 8 105472852 missense probably benign
R4905:Zdhhc1 UTSW 8 105483694 missense probably damaging 0.98
R4953:Zdhhc1 UTSW 8 105483744 frame shift probably null
R5128:Zdhhc1 UTSW 8 105483636 missense probably benign 0.02
R5274:Zdhhc1 UTSW 8 105483770 missense probably benign 0.30
R5380:Zdhhc1 UTSW 8 105483744 frame shift probably null
R5381:Zdhhc1 UTSW 8 105483744 frame shift probably null
R6852:Zdhhc1 UTSW 8 105477072 missense possibly damaging 0.70
R6962:Zdhhc1 UTSW 8 105483647 missense probably damaging 1.00
R7990:Zdhhc1 UTSW 8 105476369 critical splice donor site probably null
Posted On2013-10-07