Incidental Mutation 'IGL03110:Zmat3'
ID 419159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zmat3
Ensembl Gene ENSMUSG00000027663
Gene Name zinc finger matrin type 3
Synonyms Wig1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # IGL03110
Quality Score
Status
Chromosome 3
Chromosomal Location 32388941-32419814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32399701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 100 (N100I)
Ref Sequence ENSEMBL: ENSMUSP00000131317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029199] [ENSMUST00000168566]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029199
AA Change: N100I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029199
Gene: ENSMUSG00000027663
AA Change: N100I

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: N100I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131317
Gene: ENSMUSG00000027663
AA Change: N100I

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,333,295 (GRCm39) E473G probably damaging Het
Acp7 T C 7: 28,310,464 (GRCm39) M458V probably benign Het
Acrbp G T 6: 125,039,436 (GRCm39) C485F probably damaging Het
Actn2 T C 13: 12,324,493 (GRCm39) I117V probably benign Het
Ahr T C 12: 35,554,970 (GRCm39) E383G probably damaging Het
Cacna2d4 A T 6: 119,213,698 (GRCm39) H39L probably benign Het
Cdh11 G T 8: 103,400,502 (GRCm39) N155K probably damaging Het
Cldnd1 T A 16: 58,549,959 (GRCm39) N47K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dido1 A T 2: 180,331,135 (GRCm39) D104E probably damaging Het
Dnah1 A T 14: 30,988,674 (GRCm39) S3386T probably benign Het
Galnt18 T A 7: 111,147,920 (GRCm39) E352V probably benign Het
Gm5407 T A 16: 49,117,757 (GRCm39) noncoding transcript Het
Gucy1b2 T C 14: 62,671,283 (GRCm39) probably benign Het
Guf1 C A 5: 69,715,820 (GRCm39) L87I probably damaging Het
Hikeshi A G 7: 89,585,034 (GRCm39) S57P probably damaging Het
Igkv17-121 T A 6: 68,013,851 (GRCm39) V17D probably damaging Het
Itgad T C 7: 127,785,157 (GRCm39) V324A probably damaging Het
Lama1 T A 17: 68,105,981 (GRCm39) L2072Q probably benign Het
Lrrc31 T C 3: 30,733,415 (GRCm39) E433G probably benign Het
Mrc1 T A 2: 14,298,289 (GRCm39) L715* probably null Het
Nbeal2 T G 9: 110,460,501 (GRCm39) K1778Q probably damaging Het
Or4c35 A T 2: 89,808,493 (GRCm39) I124F probably damaging Het
Or51a39 C A 7: 102,363,090 (GRCm39) G177C probably damaging Het
Or5m3 T A 2: 85,838,942 (GRCm39) V274E probably damaging Het
Ppp1r3a T A 6: 14,722,064 (GRCm39) probably benign Het
Prss37 T C 6: 40,495,984 (GRCm39) Y6C probably benign Het
Rapgef6 A G 11: 54,586,915 (GRCm39) Q1602R probably damaging Het
Rbm15b T C 9: 106,763,173 (GRCm39) T332A probably damaging Het
S100a7l2 C T 3: 90,995,626 (GRCm39) R92H unknown Het
Snrnp70 C A 7: 45,026,283 (GRCm39) probably benign Het
Spidr T C 16: 15,707,618 (GRCm39) E893G probably damaging Het
Stxbp2 T C 8: 3,683,342 (GRCm39) I74T probably damaging Het
Tgm2 G A 2: 157,973,410 (GRCm39) Q234* probably null Het
Thbd T C 2: 148,248,716 (GRCm39) D384G probably benign Het
Zan T C 5: 137,418,278 (GRCm39) N2940S unknown Het
Other mutations in Zmat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Zmat3 APN 3 32,395,827 (GRCm39) missense possibly damaging 0.82
IGL01687:Zmat3 APN 3 32,395,680 (GRCm39) missense probably damaging 1.00
IGL02251:Zmat3 APN 3 32,399,732 (GRCm39) splice site probably benign
R0585:Zmat3 UTSW 3 32,415,254 (GRCm39) missense probably damaging 0.96
R1258:Zmat3 UTSW 3 32,397,820 (GRCm39) missense probably damaging 0.99
R1916:Zmat3 UTSW 3 32,397,497 (GRCm39) missense probably benign 0.00
R1968:Zmat3 UTSW 3 32,415,131 (GRCm39) missense probably damaging 1.00
R4805:Zmat3 UTSW 3 32,397,504 (GRCm39) missense probably benign 0.00
R4906:Zmat3 UTSW 3 32,397,836 (GRCm39) missense probably damaging 1.00
R6252:Zmat3 UTSW 3 32,395,770 (GRCm39) missense possibly damaging 0.55
R6844:Zmat3 UTSW 3 32,395,644 (GRCm39) missense probably damaging 1.00
R7998:Zmat3 UTSW 3 32,395,815 (GRCm39) missense possibly damaging 0.89
R8316:Zmat3 UTSW 3 32,395,670 (GRCm39) missense probably damaging 1.00
R9154:Zmat3 UTSW 3 32,397,767 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02