Incidental Mutation 'IGL01800:Zdhhc2'
ID 155494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc2
Ensembl Gene ENSMUSG00000039470
Gene Name zinc finger, DHHC domain containing 2
Synonyms 6430583A19Rik, 5730415P04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01800
Quality Score
Status
Chromosome 8
Chromosomal Location 40876526-40946178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40917284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 227 (L227P)
Ref Sequence ENSEMBL: ENSMUSP00000129996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049389] [ENSMUST00000128166] [ENSMUST00000167766]
AlphaFold P59267
Predicted Effect probably damaging
Transcript: ENSMUST00000049389
AA Change: L227P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041727
Gene: ENSMUSG00000039470
AA Change: L227P

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
Pfam:zf-DHHC 66 248 4.1e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128166
AA Change: L227P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123070
Gene: ENSMUSG00000039470
AA Change: L227P

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
transmembrane domain 48 70 N/A INTRINSIC
Pfam:zf-DHHC 122 248 1.8e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131672
Predicted Effect probably damaging
Transcript: ENSMUST00000167766
AA Change: L227P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129996
Gene: ENSMUSG00000039470
AA Change: L227P

DomainStartEndE-ValueType
transmembrane domain 16 38 N/A INTRINSIC
Pfam:zf-DHHC 66 248 4.1e-43 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,772,734 (GRCm39) Y48C possibly damaging Het
Acsm3 T C 7: 119,373,866 (GRCm39) S251P possibly damaging Het
Ano5 G A 7: 51,222,823 (GRCm39) probably null Het
Ccdc65 C T 15: 98,606,946 (GRCm39) A51V probably benign Het
Cspg5 A G 9: 110,080,218 (GRCm39) probably benign Het
Dhx30 A G 9: 109,914,581 (GRCm39) V935A possibly damaging Het
Disp3 T A 4: 148,334,258 (GRCm39) K1012* probably null Het
Dock2 T C 11: 34,647,100 (GRCm39) N18S probably damaging Het
Dst A T 1: 34,301,173 (GRCm39) I1180F probably damaging Het
Elp2 A G 18: 24,750,548 (GRCm39) Y295C probably benign Het
Eml2 A G 7: 18,935,122 (GRCm39) probably benign Het
Fat4 A G 3: 39,035,878 (GRCm39) T3177A probably damaging Het
Flrt2 A T 12: 95,746,462 (GRCm39) I267F probably damaging Het
Gm5611 T G 9: 16,941,767 (GRCm39) noncoding transcript Het
Gstcd A G 3: 132,790,335 (GRCm39) probably null Het
Gucy1b2 T C 14: 62,649,104 (GRCm39) M476V probably benign Het
Jak2 A G 19: 29,263,693 (GRCm39) probably benign Het
Kcnt1 T C 2: 25,778,137 (GRCm39) F85S probably damaging Het
Kcnu1 G A 8: 26,427,528 (GRCm39) V282M probably damaging Het
Lancl1 T G 1: 67,060,029 (GRCm39) E132A probably benign Het
Or4g7 T C 2: 111,309,209 (GRCm39) F27L probably benign Het
Or5b106 A G 19: 13,123,993 (GRCm39) F10S probably damaging Het
Pigm G A 1: 172,204,770 (GRCm39) A169T probably damaging Het
Ppargc1a A G 5: 51,652,063 (GRCm39) Y212H probably damaging Het
Ppp1r13l A T 7: 19,111,936 (GRCm39) probably benign Het
Pramel12 T C 4: 143,145,650 (GRCm39) L373P probably damaging Het
Rictor T C 15: 6,804,182 (GRCm39) I554T probably damaging Het
Sbno1 G A 5: 124,519,568 (GRCm39) probably benign Het
Sesn2 G T 4: 132,226,418 (GRCm39) L194I probably damaging Het
Slc26a2 A T 18: 61,334,801 (GRCm39) Y217* probably null Het
Sptbn5 G T 2: 119,886,908 (GRCm39) probably benign Het
Tmem184a A T 5: 139,798,899 (GRCm39) S17T possibly damaging Het
Trhr T C 15: 44,092,603 (GRCm39) M280T possibly damaging Het
Ube2j1 A T 4: 33,045,115 (GRCm39) E129D probably benign Het
Ube4b A T 4: 149,415,951 (GRCm39) S3T probably damaging Het
Vmn2r49 A T 7: 9,710,601 (GRCm39) C710* probably null Het
Vmn2r82 C T 10: 79,192,581 (GRCm39) R53C probably benign Het
Zfp995 A C 17: 22,099,972 (GRCm39) H87Q possibly damaging Het
Other mutations in Zdhhc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01697:Zdhhc2 APN 8 40,920,460 (GRCm39) splice site probably benign
IGL01751:Zdhhc2 APN 8 40,926,042 (GRCm39) missense probably benign
IGL01752:Zdhhc2 APN 8 40,926,042 (GRCm39) missense probably benign
IGL02475:Zdhhc2 APN 8 40,926,066 (GRCm39) missense probably null 1.00
IGL02554:Zdhhc2 APN 8 40,915,155 (GRCm39) missense probably damaging 1.00
R0662:Zdhhc2 UTSW 8 40,900,139 (GRCm39) missense probably damaging 1.00
R0720:Zdhhc2 UTSW 8 40,925,948 (GRCm39) splice site probably null
R1511:Zdhhc2 UTSW 8 40,921,013 (GRCm39) missense probably benign 0.00
R4738:Zdhhc2 UTSW 8 40,917,183 (GRCm39) splice site probably null
R5114:Zdhhc2 UTSW 8 40,898,825 (GRCm39) missense probably benign 0.06
R5935:Zdhhc2 UTSW 8 40,917,277 (GRCm39) missense probably damaging 0.96
R6029:Zdhhc2 UTSW 8 40,925,968 (GRCm39) missense probably null
R7210:Zdhhc2 UTSW 8 40,920,480 (GRCm39) missense probably damaging 0.96
R7792:Zdhhc2 UTSW 8 40,900,182 (GRCm39) missense probably benign 0.02
R8756:Zdhhc2 UTSW 8 40,920,551 (GRCm39) missense probably damaging 1.00
R8805:Zdhhc2 UTSW 8 40,898,846 (GRCm39) critical splice donor site probably null
R9142:Zdhhc2 UTSW 8 40,920,563 (GRCm39) missense probably damaging 1.00
R9677:Zdhhc2 UTSW 8 40,909,712 (GRCm39) nonsense probably null
Posted On 2014-02-04