Incidental Mutation 'IGL02597:Zdhhc3'
ID299901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc3
Ensembl Gene ENSMUSG00000025786
Gene Namezinc finger, DHHC domain containing 3
SynonymsGODZ, 1810006O10Rik, Zfp373, 2210017C02Rik, 1110020O22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02597
Quality Score
Status
Chromosome9
Chromosomal Location123066160-123113205 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 123100391 bp
ZygosityHeterozygous
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] [ENSMUST00000140497] [ENSMUST00000147563] [ENSMUST00000150679] [ENSMUST00000152396] [ENSMUST00000155778]
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 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 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: 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
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,623,931 K1648E probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Atp7a A T X: 106,069,888 N34I probably benign Het
Btbd11 A G 10: 85,633,801 Y862C probably damaging Het
Casq2 A G 3: 102,126,637 Y232C probably damaging Het
Cdan1 A T 2: 120,725,239 N738K probably benign Het
Cdh24 A G 14: 54,633,515 V132A possibly damaging Het
Chd5 C A 4: 152,371,712 T946K probably damaging Het
Clip4 T C 17: 71,849,970 probably benign Het
Copz2 T C 11: 96,857,599 probably benign Het
Cyp2c39 C A 19: 39,560,887 S283* probably null Het
Dlec1 A T 9: 119,134,536 S973C probably damaging Het
Far1 A T 7: 113,551,256 T264S probably benign Het
Iqgap1 A G 7: 80,723,885 L1452P probably damaging Het
Irx5 A C 8: 92,360,772 N444T possibly damaging Het
Kcnip2 A G 19: 45,796,273 probably benign Het
Kmt2d A T 15: 98,863,831 M546K unknown Het
Lrrc37a A G 11: 103,504,287 L104S probably benign Het
Med12 T C X: 101,284,932 L1143P probably damaging Het
Mettl11b A G 1: 163,717,087 V109A probably benign Het
Mtcl1 T C 17: 66,338,021 H1477R probably benign Het
Nkap T A X: 37,147,784 probably benign Het
Olfr714 A T 7: 107,074,439 T204S possibly damaging Het
Osbpl6 C T 2: 76,555,974 Q214* probably null Het
Pex1 C T 5: 3,635,865 T1202I possibly damaging Het
Prrc2b A T 2: 32,219,613 N1066I probably damaging Het
Psmg1 T C 16: 95,987,297 E152G probably damaging Het
Scn10a A G 9: 119,610,123 I1560T probably damaging Het
Shd A G 17: 55,973,987 E221G possibly damaging Het
Slc39a4 T C 15: 76,613,624 T478A probably benign Het
Snx2 A G 18: 53,210,372 I281V probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem161a A T 8: 70,182,043 R297S probably damaging Het
Tns1 A G 1: 73,985,873 probably null Het
Ugt2b36 G A 5: 87,080,924 T420M probably damaging Het
Wdfy4 G A 14: 33,090,861 R1652* probably null Het
Zap70 T A 1: 36,771,920 Y178* probably null Het
Other mutations in Zdhhc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02322:Zdhhc3 APN 9 123100477 missense probably benign 0.02
IGL03036:Zdhhc3 APN 9 123100517 missense probably damaging 1.00
LCD18:Zdhhc3 UTSW 9 123083022 intron probably benign
R0787:Zdhhc3 UTSW 9 123083623 nonsense probably null
R2049:Zdhhc3 UTSW 9 123100537 missense probably damaging 1.00
R4904:Zdhhc3 UTSW 9 123100387 missense probably damaging 1.00
R5418:Zdhhc3 UTSW 9 123080391 missense probably damaging 1.00
R5639:Zdhhc3 UTSW 9 123100345 missense probably damaging 1.00
R5886:Zdhhc3 UTSW 9 123091081 missense probably benign 0.01
R8379:Zdhhc3 UTSW 9 123089078 missense probably damaging 0.98
Posted On2015-04-16