Incidental Mutation 'IGL03110:Zmat3'
ID419159
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 #IGL03110
Quality Score
Status
Chromosome3
Chromosomal Location32334792-32366014 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 32345552 bp
ZygosityHeterozygous
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]
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
9130204L05Rik C T 3: 91,088,319 R92H unknown Het
Acacb A G 5: 114,195,234 E473G probably damaging Het
Acp7 T C 7: 28,611,039 M458V probably benign Het
Acrbp G T 6: 125,062,473 C485F probably damaging Het
Actn2 T C 13: 12,309,607 I117V probably benign Het
Ahr T C 12: 35,504,971 E383G probably damaging Het
Cacna2d4 A T 6: 119,236,737 H39L probably benign Het
Cdh11 G T 8: 102,673,870 N155K probably damaging Het
Cldnd1 T A 16: 58,729,596 N47K possibly damaging Het
Ddb1 C T 19: 10,612,945 R279W probably damaging Het
Dido1 A T 2: 180,689,342 D104E probably damaging Het
Dnah1 A T 14: 31,266,717 S3386T probably benign Het
Galnt18 T A 7: 111,548,713 E352V probably benign Het
Gm5407 T A 16: 49,297,394 noncoding transcript Het
Gucy1b2 T C 14: 62,433,834 probably benign Het
Guf1 C A 5: 69,558,477 L87I probably damaging Het
Hikeshi A G 7: 89,935,826 S57P probably damaging Het
Igkv17-121 T A 6: 68,036,867 V17D probably damaging Het
Itgad T C 7: 128,185,985 V324A probably damaging Het
Lama1 T A 17: 67,798,986 L2072Q probably benign Het
Lrrc31 T C 3: 30,679,266 E433G probably benign Het
Mrc1 T A 2: 14,293,478 L715* probably null Het
Nbeal2 T G 9: 110,631,433 K1778Q probably damaging Het
Olfr1032 T A 2: 86,008,598 V274E probably damaging Het
Olfr1260 A T 2: 89,978,149 I124F probably damaging Het
Olfr33 C A 7: 102,713,883 G177C probably damaging Het
Ppp1r3a T A 6: 14,722,065 probably benign Het
Prss37 T C 6: 40,519,050 Y6C probably benign Het
Rapgef6 A G 11: 54,696,089 Q1602R probably damaging Het
Rbm15b T C 9: 106,885,974 T332A probably damaging Het
Snrnp70 C A 7: 45,376,859 probably benign Het
Spidr T C 16: 15,889,754 E893G probably damaging Het
Stxbp2 T C 8: 3,633,342 I74T probably damaging Het
Tgm2 G A 2: 158,131,490 Q234* probably null Het
Thbd T C 2: 148,406,796 D384G probably benign Het
Zan T C 5: 137,420,016 N2940S unknown Het
Other mutations in Zmat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Zmat3 APN 3 32341678 missense possibly damaging 0.82
IGL01687:Zmat3 APN 3 32341531 missense probably damaging 1.00
IGL02251:Zmat3 APN 3 32345583 splice site probably benign
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 On2016-08-02