Incidental Mutation 'R6844:Zmat3'
ID 534660
Institutional Source Beutler Lab
Gene Symbol Zmat3
Ensembl Gene ENSMUSG00000027663
Gene Name zinc finger matrin type 3
Synonyms Wig1
MMRRC Submission 044950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R6844 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 32388941-32419814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32395644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 288 (Y288H)
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: Y288H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029199
Gene: ENSMUSG00000027663
AA Change: Y288H

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: Y288H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131317
Gene: ENSMUSG00000027663
AA Change: Y288H

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
Meta Mutation Damage Score 0.1336 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 92% (36/39)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap18 G A 10: 26,648,682 (GRCm39) A35T probably benign Het
Arhgap21 A G 2: 20,886,116 (GRCm39) S354P probably benign Het
Casq2 A T 3: 102,017,578 (GRCm39) H86L possibly damaging Het
Ccdc188 G A 16: 18,036,074 (GRCm39) G83E probably damaging Het
Cd22 G T 7: 30,572,856 (GRCm39) probably null Het
Cyp2b13 T A 7: 25,781,122 (GRCm39) I178N probably damaging Het
Cyp4a31 T A 4: 115,420,989 (GRCm39) C26S probably null Het
Eif3h T C 15: 51,728,729 (GRCm39) D42G possibly damaging Het
Elovl4 T A 9: 83,672,164 (GRCm39) I52L probably benign Het
Fgfbp3 C A 19: 36,896,280 (GRCm39) A113S possibly damaging Het
Fsip2 A T 2: 82,813,969 (GRCm39) K3429N possibly damaging Het
Gemin5 T C 11: 58,054,730 (GRCm39) D224G probably benign Het
Gm3415 T C 5: 146,494,811 (GRCm39) I158T probably benign Het
Gpr22 C A 12: 31,759,951 (GRCm39) R20L probably benign Het
Htr1a A G 13: 105,581,455 (GRCm39) K232E possibly damaging Het
Itgax T A 7: 127,747,106 (GRCm39) probably null Het
Jag2 T C 12: 112,880,334 (GRCm39) Y310C probably damaging Het
Lce1j A G 3: 92,696,656 (GRCm39) S41P unknown Het
Mllt10 A G 2: 18,164,294 (GRCm39) I197V probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mybpc1 T A 10: 88,372,243 (GRCm39) I796F possibly damaging Het
Nr2c1 T A 10: 94,007,029 (GRCm39) L289* probably null Het
Omp T A 7: 97,794,283 (GRCm39) M115L probably benign Het
Pdcd1 C T 1: 93,967,106 (GRCm39) R264H probably benign Het
Plxna2 T C 1: 194,476,136 (GRCm39) F1119L probably benign Het
Ralyl A G 3: 13,841,938 (GRCm39) T25A probably damaging Het
Rapgef4 A G 2: 72,064,970 (GRCm39) T656A probably damaging Het
Ripor3 C T 2: 167,835,253 (GRCm39) probably null Het
Samd8 T C 14: 21,825,205 (GRCm39) S54P probably damaging Het
Serpinb9g A T 13: 33,670,616 (GRCm39) I35F probably damaging Het
Shisa8 T C 15: 82,096,310 (GRCm39) S102G probably damaging Het
Slc4a1ap T A 5: 31,684,822 (GRCm39) S153T probably damaging Het
Slc4a4 T A 5: 89,376,831 (GRCm39) D1028E probably damaging Het
Slc6a13 T A 6: 121,302,012 (GRCm39) I198N probably damaging Het
Sst C T 16: 23,708,592 (GRCm39) D80N probably benign Het
Synj2 A G 17: 6,026,081 (GRCm39) K47E probably damaging Het
Tal1 C T 4: 114,920,464 (GRCm39) P46L probably benign Het
Top2b A T 14: 16,429,383 (GRCm38) N1541I possibly damaging Het
Vps13b T A 15: 35,877,736 (GRCm39) N2903K probably benign Het
Zfp949 A G 9: 88,451,464 (GRCm39) T345A possibly damaging 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
R6252:Zmat3 UTSW 3 32,395,770 (GRCm39) missense possibly damaging 0.55
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'- CCAAAAGAGCATCCTGGTGACC -3'
(R):5'- AGGCCCTTACTTCAATGCCC -3'

Sequencing Primer
(F):5'- TCCTGGTGACCAAAGAAACG -3'
(R):5'- ACTTCAATGCCCGCTCCCG -3'
Posted On 2018-09-12