Incidental Mutation 'IGL02597:Zdhhc3'
ID 299901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc3
Ensembl Gene ENSMUSG00000025786
Gene Name zinc finger, DHHC domain containing 3
Synonyms Zfp373, 2210017C02Rik, 1810006O10Rik, 1110020O22Rik, GODZ
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02597
Quality Score
Status
Chromosome 9
Chromosomal Location 122895224-122942269 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122929456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 60 (F60L)
Ref Sequence ENSEMBL: ENSMUSP00000116526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026892] [ENSMUST00000123937] [ENSMUST00000129862] [ENSMUST00000130717] [ENSMUST00000138622] [ENSMUST00000147563] [ENSMUST00000155778] [ENSMUST00000140497] [ENSMUST00000150679] [ENSMUST00000152396]
AlphaFold Q8R173
Predicted Effect probably damaging
Transcript: ENSMUST00000026892
AA Change: F60L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026892
Gene: ENSMUSG00000025786
AA Change: F60L

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123937
AA Change: F60L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114613
Gene: ENSMUSG00000025786
AA Change: F60L

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129151
Predicted Effect probably benign
Transcript: ENSMUST00000129862
SMART Domains Protein: ENSMUSP00000119360
Gene: ENSMUSG00000025786

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130717
AA Change: F60L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121712
Gene: ENSMUSG00000025786
AA Change: F60L

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000138622
AA Change: F60L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119750
Gene: ENSMUSG00000025786
AA Change: F60L

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000147563
AA Change: F60L

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117392
Gene: ENSMUSG00000025786
AA Change: F60L

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 92 N/A INTRINSIC
Pfam:zf-DHHC 125 255 3.8e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000155778
AA Change: F60L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119416
Gene: ENSMUSG00000025786
AA Change: F60L

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140497
AA Change: F60L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122604
Gene: ENSMUSG00000025786
AA Change: F60L

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000150679
AA Change: F60L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116526
Gene: ENSMUSG00000025786
AA Change: F60L

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000152396
AA Change: F60L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116222
Gene: ENSMUSG00000025786
AA Change: F60L

DomainStartEndE-ValueType
low complexity region 25 35 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
low complexity region 136 149 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A G 10: 85,469,665 (GRCm39) Y862C probably damaging Het
Anapc1 T C 2: 128,465,851 (GRCm39) K1648E probably benign Het
Arhgef10 C T 8: 14,980,198 (GRCm39) A146V probably benign Het
Atp7a A T X: 105,113,494 (GRCm39) N34I probably benign Het
Casq2 A G 3: 102,033,953 (GRCm39) Y232C probably damaging Het
Cdan1 A T 2: 120,555,720 (GRCm39) N738K probably benign Het
Cdh24 A G 14: 54,870,972 (GRCm39) V132A possibly damaging Het
Chd5 C A 4: 152,456,169 (GRCm39) T946K probably damaging Het
Clip4 T C 17: 72,156,965 (GRCm39) probably benign Het
Copz2 T C 11: 96,748,425 (GRCm39) probably benign Het
Cyp2c39 C A 19: 39,549,331 (GRCm39) S283* probably null Het
Dlec1 A T 9: 118,963,604 (GRCm39) S973C probably damaging Het
Far1 A T 7: 113,150,463 (GRCm39) T264S probably benign Het
Iqgap1 A G 7: 80,373,633 (GRCm39) L1452P probably damaging Het
Irx5 A C 8: 93,087,400 (GRCm39) N444T possibly damaging Het
Kcnip2 A G 19: 45,784,712 (GRCm39) probably benign Het
Kmt2d A T 15: 98,761,712 (GRCm39) M546K unknown Het
Lrrc37a A G 11: 103,395,113 (GRCm39) L104S probably benign Het
Med12 T C X: 100,328,538 (GRCm39) L1143P probably damaging Het
Mtcl1 T C 17: 66,645,016 (GRCm39) H1477R probably benign Het
Nkap T A X: 36,411,437 (GRCm39) probably benign Het
Ntmt2 A G 1: 163,544,656 (GRCm39) V109A probably benign Het
Or10a2 A T 7: 106,673,646 (GRCm39) T204S possibly damaging Het
Osbpl6 C T 2: 76,386,318 (GRCm39) Q214* probably null Het
Pex1 C T 5: 3,685,865 (GRCm39) T1202I possibly damaging Het
Prrc2b A T 2: 32,109,625 (GRCm39) N1066I probably damaging Het
Psmg1 T C 16: 95,788,497 (GRCm39) E152G probably damaging Het
Scn10a A G 9: 119,439,189 (GRCm39) I1560T probably damaging Het
Shd A G 17: 56,280,987 (GRCm39) E221G possibly damaging Het
Slc39a4 T C 15: 76,497,824 (GRCm39) T478A probably benign Het
Snx2 A G 18: 53,343,444 (GRCm39) I281V probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem161a A T 8: 70,634,693 (GRCm39) R297S probably damaging Het
Tns1 A G 1: 74,025,032 (GRCm39) probably null Het
Ugt2b36 G A 5: 87,228,783 (GRCm39) T420M probably damaging Het
Wdfy4 G A 14: 32,812,818 (GRCm39) R1652* probably null Het
Zap70 T A 1: 36,811,001 (GRCm39) Y178* probably null Het
Other mutations in Zdhhc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02322:Zdhhc3 APN 9 122,929,542 (GRCm39) missense probably benign 0.02
IGL03036:Zdhhc3 APN 9 122,929,582 (GRCm39) missense probably damaging 1.00
LCD18:Zdhhc3 UTSW 9 122,912,087 (GRCm39) intron probably benign
R0787:Zdhhc3 UTSW 9 122,912,688 (GRCm39) nonsense probably null
R2049:Zdhhc3 UTSW 9 122,929,602 (GRCm39) missense probably damaging 1.00
R4904:Zdhhc3 UTSW 9 122,929,452 (GRCm39) missense probably damaging 1.00
R5418:Zdhhc3 UTSW 9 122,909,456 (GRCm39) missense probably damaging 1.00
R5639:Zdhhc3 UTSW 9 122,929,410 (GRCm39) missense probably damaging 1.00
R5886:Zdhhc3 UTSW 9 122,920,146 (GRCm39) missense probably benign 0.01
R8379:Zdhhc3 UTSW 9 122,918,143 (GRCm39) missense probably damaging 0.98
R8471:Zdhhc3 UTSW 9 122,929,440 (GRCm39) missense probably damaging 1.00
R8982:Zdhhc3 UTSW 9 122,929,578 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16