Incidental Mutation 'IGL01687:Zmat3'
ID103982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zmat3
Ensembl Gene ENSMUSG00000027663
Gene Namezinc finger matrin type 3
SynonymsWig1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.181) question?
Stock #IGL01687
Quality Score
Status
Chromosome3
Chromosomal Location32334792-32366014 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32341531 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 276 (E276K)
Ref Sequence ENSEMBL: ENSMUSP00000131317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029199] [ENSMUST00000168566]
Predicted Effect probably damaging
Transcript: ENSMUST00000029199
AA Change: E276K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029199
Gene: ENSMUSG00000027663
AA Change: E276K

DomainStartEndE-ValueType
ZnF_U1 67 101 1.03e-10 SMART
ZnF_C2H2 70 94 9.46e0 SMART
ZnF_U1 145 179 1.11e-10 SMART
ZnF_C2H2 148 172 5.54e1 SMART
ZnF_U1 243 277 7.72e-10 SMART
ZnF_C2H2 246 270 6.92e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168566
AA Change: E276K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131317
Gene: ENSMUSG00000027663
AA Change: E276K

DomainStartEndE-ValueType
ZnF_U1 67 101 1.03e-10 SMART
ZnF_C2H2 70 94 9.46e0 SMART
ZnF_U1 145 179 1.11e-10 SMART
ZnF_C2H2 148 172 5.54e1 SMART
ZnF_U1 243 277 7.72e-10 SMART
ZnF_C2H2 246 270 6.92e0 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,267,610 probably benign Het
Cep290 C T 10: 100,500,205 T375M probably damaging Het
Col1a2 A T 6: 4,520,258 R348* probably null Het
Dph6 A T 2: 114,644,778 Y85* probably null Het
Etl4 C T 2: 20,530,087 H118Y probably damaging Het
Gprc5b A G 7: 118,983,986 F220S possibly damaging Het
Larp4 A G 15: 99,996,488 T213A probably damaging Het
Mfn1 T C 3: 32,563,366 probably benign Het
Myo5a T C 9: 75,156,249 V579A probably benign Het
Nol11 T C 11: 107,186,869 I65M probably damaging Het
Olfr267 A T 4: 58,785,047 L225Q probably damaging Het
Pcdh18 T C 3: 49,753,533 probably benign Het
Prss30 T C 17: 23,975,132 T17A probably benign Het
Rab11fip3 A G 17: 26,067,982 L399P probably damaging Het
Slc44a2 T C 9: 21,345,947 V396A probably benign Het
Tns3 A G 11: 8,492,798 S522P probably damaging Het
Vmn2r94 A T 17: 18,253,312 V484E possibly damaging Het
Zfp871 T A 17: 32,775,644 T167S probably benign Het
Other mutations in Zmat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Zmat3 APN 3 32341678 missense possibly damaging 0.82
IGL02251:Zmat3 APN 3 32345583 splice site probably benign
IGL03110:Zmat3 APN 3 32345552 missense probably damaging 0.98
R0585:Zmat3 UTSW 3 32361105 missense probably damaging 0.96
R1258:Zmat3 UTSW 3 32343671 missense probably damaging 0.99
R1916:Zmat3 UTSW 3 32343348 missense probably benign 0.00
R1968:Zmat3 UTSW 3 32360982 missense probably damaging 1.00
R4805:Zmat3 UTSW 3 32343355 missense probably benign 0.00
R4906:Zmat3 UTSW 3 32343687 missense probably damaging 1.00
R6252:Zmat3 UTSW 3 32341621 missense possibly damaging 0.55
R6844:Zmat3 UTSW 3 32341495 missense probably damaging 1.00
R7998:Zmat3 UTSW 3 32341666 missense possibly damaging 0.89
R8316:Zmat3 UTSW 3 32341521 missense probably damaging 1.00
Posted On2014-01-21