Incidental Mutation 'IGL01678:Zmat4'
ID103701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zmat4
Ensembl Gene ENSMUSG00000037492
Gene Namezinc finger, matrin type 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL01678
Quality Score
Status
Chromosome8
Chromosomal Location23636019-24156585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23902048 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 7 (C7S)
Ref Sequence ENSEMBL: ENSMUSP00000146734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042352] [ENSMUST00000123412] [ENSMUST00000131410] [ENSMUST00000207301]
Predicted Effect probably damaging
Transcript: ENSMUST00000042352
AA Change: C76S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049430
Gene: ENSMUSG00000037492
AA Change: C76S

DomainStartEndE-ValueType
ZnF_U1 11 45 8.34e-6 SMART
ZnF_C2H2 14 38 4.99e1 SMART
ZnF_U1 72 106 8.6e-8 SMART
ZnF_C2H2 75 99 1.33e1 SMART
ZnF_U1 142 176 4.37e-9 SMART
ZnF_C2H2 145 169 4.38e1 SMART
ZnF_U1 195 229 3.08e-2 SMART
ZnF_C2H2 198 222 1.62e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000123412
AA Change: C76S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121626
Gene: ENSMUSG00000037492
AA Change: C76S

DomainStartEndE-ValueType
ZnF_U1 11 45 8.34e-6 SMART
ZnF_C2H2 14 38 4.99e1 SMART
ZnF_U1 72 106 8.6e-8 SMART
ZnF_C2H2 75 99 1.33e1 SMART
ZnF_U1 142 176 4.37e-9 SMART
ZnF_C2H2 145 169 4.38e1 SMART
ZnF_U1 195 225 5.76e0 SMART
ZnF_C2H2 198 222 1.62e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131410
AA Change: C76S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115719
Gene: ENSMUSG00000037492
AA Change: C76S

DomainStartEndE-ValueType
ZnF_U1 11 45 8.34e-6 SMART
ZnF_U1 72 96 1.09e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207301
AA Change: C7S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,405,019 M186K probably null Het
Adamts3 T C 5: 89,707,856 N385S probably damaging Het
Adamts6 T C 13: 104,313,688 V299A probably damaging Het
Angel1 T C 12: 86,717,026 E500G probably benign Het
Car9 T C 4: 43,512,941 probably benign Het
Colec11 A G 12: 28,594,868 F209S probably damaging Het
Dock10 A G 1: 80,543,352 Y1179H probably damaging Het
Ece1 T A 4: 137,962,733 W697R probably damaging Het
Eml2 T A 7: 19,186,122 M117K probably benign Het
Flii G T 11: 60,716,846 probably benign Het
Frmpd1 T A 4: 45,243,717 D63E probably damaging Het
Ftmt A T 18: 52,332,134 H174L probably damaging Het
Gm438 A T 4: 144,777,873 M236K probably benign Het
Gm960 T A 19: 4,672,165 I76L possibly damaging Het
Gpr37l1 A G 1: 135,167,053 V151A probably damaging Het
Inppl1 T C 7: 101,832,596 T180A probably benign Het
Klhdc4 T C 8: 121,796,938 D513G possibly damaging Het
Klrb1a A G 6: 128,618,448 probably benign Het
Nit1 A G 1: 171,342,694 V270A probably damaging Het
Olfr774 A C 10: 129,238,668 D173A possibly damaging Het
Phox2b T A 5: 67,098,919 Y8F probably damaging Het
Psg20 T A 7: 18,680,870 S364C probably damaging Het
Rab38 T A 7: 88,430,532 V44E probably damaging Het
Rapgef4 T C 2: 72,242,225 probably benign Het
Ror1 C T 4: 100,425,968 P410L possibly damaging Het
Rptn A G 3: 93,396,811 N484D probably benign Het
Sirpb1a G T 3: 15,411,310 S142R probably damaging Het
Smox G A 2: 131,512,059 R17H possibly damaging Het
Trpm7 A T 2: 126,816,799 C1146S probably damaging Het
Upf3a C T 8: 13,791,930 A155V probably benign Het
Vmn1r212 A T 13: 22,883,911 V84D probably damaging Het
Vmn2r40 T C 7: 8,920,106 N419D probably damaging Het
Wdr92 T C 11: 17,232,790 V317A probably benign Het
Zfp143 C A 7: 110,080,351 probably benign Het
Other mutations in Zmat4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Zmat4 APN 8 23902169 missense probably benign 0.00
IGL02528:Zmat4 APN 8 24015196 missense probably damaging 0.99
IGL02638:Zmat4 APN 8 23797373 missense probably damaging 1.00
IGL03203:Zmat4 APN 8 24015184 missense probably damaging 0.99
R0208:Zmat4 UTSW 8 23902067 missense probably damaging 1.00
R0884:Zmat4 UTSW 8 24015127 missense probably benign 0.00
R1856:Zmat4 UTSW 8 23929135 missense probably benign 0.41
R1888:Zmat4 UTSW 8 24015161 missense probably damaging 0.99
R1888:Zmat4 UTSW 8 24015161 missense probably damaging 0.99
R2166:Zmat4 UTSW 8 23902136 missense probably damaging 1.00
R3704:Zmat4 UTSW 8 23797414 missense probably benign 0.18
R4966:Zmat4 UTSW 8 23902069 missense probably damaging 1.00
R5063:Zmat4 UTSW 8 23748441 missense probably damaging 0.97
R5536:Zmat4 UTSW 8 23748492 missense probably damaging 1.00
R5990:Zmat4 UTSW 8 23929263 missense probably damaging 1.00
R6191:Zmat4 UTSW 8 23902067 missense probably damaging 1.00
R6645:Zmat4 UTSW 8 23797401 splice site probably null
R6962:Zmat4 UTSW 8 23902165 missense probably benign 0.00
Posted On2014-01-21