Incidental Mutation 'R6252:Zmat3'
ID 506266
Institutional Source Beutler Lab
Gene Symbol Zmat3
Ensembl Gene ENSMUSG00000027663
Gene Name zinc finger matrin type 3
Synonyms Wig1
MMRRC Submission 044369-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R6252 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 32388941-32419814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32395770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 246 (F246L)
Ref Sequence ENSEMBL: ENSMUSP00000131317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029199] [ENSMUST00000168566]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029199
AA Change: F246L

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029199
Gene: ENSMUSG00000027663
AA Change: F246L

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 possibly damaging
Transcript: ENSMUST00000168566
AA Change: F246L

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131317
Gene: ENSMUSG00000027663
AA Change: F246L

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,122,305 (GRCm39) I393V probably benign Het
Agl C T 3: 116,580,878 (GRCm39) probably null Het
Ankrd11 T C 8: 123,620,561 (GRCm39) E1097G possibly damaging Het
Aoc1 A G 6: 48,883,015 (GRCm39) H297R probably benign Het
AW146154 G A 7: 41,130,811 (GRCm39) P102S probably benign Het
Cap1 A G 4: 122,766,193 (GRCm39) V15A probably benign Het
Cavin2 A G 1: 51,328,828 (GRCm39) N95S probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Col8a1 A G 16: 57,447,368 (GRCm39) V714A unknown Het
Crispld1 A G 1: 17,819,731 (GRCm39) E243G probably benign Het
Daam1 G A 12: 72,035,723 (GRCm39) G964R probably damaging Het
Elapor2 T C 5: 9,460,693 (GRCm39) Y205H probably damaging Het
Epg5 T C 18: 78,028,382 (GRCm39) F1308L probably damaging Het
Eqtn A T 4: 94,796,006 (GRCm39) S232T probably damaging Het
Esyt1 T C 10: 128,347,771 (GRCm39) E973G probably benign Het
Fbxl13 T A 5: 21,826,499 (GRCm39) M96L possibly damaging Het
Frem2 A T 3: 53,479,869 (GRCm39) F1941L probably damaging Het
Gbf1 T C 19: 46,259,995 (GRCm39) V1050A probably benign Het
Hecw1 T C 13: 14,446,664 (GRCm39) H721R probably damaging Het
Idh1 T G 1: 65,207,690 (GRCm39) Q163P probably benign Het
Kctd15 A G 7: 34,341,348 (GRCm39) V193A probably benign Het
Npas3 A G 12: 54,115,673 (GRCm39) Y834C probably damaging Het
Opn4 C T 14: 34,316,788 (GRCm39) V334I probably benign Het
Or10w3 A T 19: 13,704,419 (GRCm39) S265C probably damaging Het
Pappa A G 4: 65,107,649 (GRCm39) M687V probably benign Het
Pcdhgc5 T C 18: 37,954,583 (GRCm39) F619S probably damaging Het
Pdlim2 G T 14: 70,405,137 (GRCm39) Q243K probably damaging Het
Pkd1 T C 17: 24,800,200 (GRCm39) L2987P probably damaging Het
Plcz1 A G 6: 139,953,329 (GRCm39) probably null Het
Prpf6 C T 2: 181,289,156 (GRCm39) A615V probably damaging Het
Pwp1 T C 10: 85,710,373 (GRCm39) V5A probably benign Het
Rsph10b T A 5: 143,873,939 (GRCm39) D13E possibly damaging Het
Slc44a3 T A 3: 121,307,386 (GRCm39) D200V probably damaging Het
Spata31h1 T C 10: 82,119,588 (GRCm39) Q4474R probably benign Het
St7l T C 3: 104,826,819 (GRCm39) probably null Het
Stc2 T A 11: 31,310,346 (GRCm39) D230V probably damaging Het
Syne2 C A 12: 76,016,210 (GRCm39) T3264K probably benign Het
Trp73 C A 4: 154,148,854 (GRCm39) D252Y probably damaging Het
Ubr1 T C 2: 120,737,376 (GRCm39) D1056G probably benign Het
Vcan C T 13: 89,839,339 (GRCm39) W1108* probably null Het
Zfp772 G T 7: 7,207,018 (GRCm39) S224R possibly damaging Het
Zfp804b A T 5: 6,819,478 (GRCm39) V1159E probably damaging Het
Zfp981 T G 4: 146,621,970 (GRCm39) S298R probably benign Het
Zranb1 A G 7: 132,585,633 (GRCm39) T720A probably benign 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
IGL03110:Zmat3 APN 3 32,399,701 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- AAACAGGCAGGACAGGCTTC -3'
(R):5'- TGGACATTCTAAGGATCTGCG -3'

Sequencing Primer
(F):5'- ACAGGCTTCTCTGTGAGGAC -3'
(R):5'- TCACGCATTGACTAGGCTAG -3'
Posted On 2018-03-15