Incidental Mutation 'IGL01722:Mta3'
ID105143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mta3
Ensembl Gene ENSMUSG00000055817
Gene Namemetastasis associated 3
Synonyms1110002J22Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.612) question?
Stock #IGL01722
Quality Score
Status
Chromosome17
Chromosomal Location83706163-83821516 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83755643 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 4 (Y4H)
Ref Sequence ENSEMBL: ENSMUSP00000135752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067826] [ENSMUST00000112349] [ENSMUST00000112350] [ENSMUST00000112352] [ENSMUST00000176816] [ENSMUST00000177069]
Predicted Effect possibly damaging
Transcript: ENSMUST00000067826
AA Change: Y156H

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068931
Gene: ENSMUSG00000055817
AA Change: Y156H

DomainStartEndE-ValueType
BAH 4 147 2.62e-30 SMART
ELM2 150 203 3.49e-16 SMART
SANT 266 315 7.94e-8 SMART
ZnF_GATA 371 425 8.33e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112349
AA Change: Y156H

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107968
Gene: ENSMUSG00000055817
AA Change: Y156H

DomainStartEndE-ValueType
BAH 4 147 2.62e-30 SMART
ELM2 150 204 2.5e-17 SMART
SANT 267 316 7.94e-8 SMART
ZnF_GATA 373 427 8.33e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112350
AA Change: Y156H

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107969
Gene: ENSMUSG00000055817
AA Change: Y156H

DomainStartEndE-ValueType
BAH 4 147 2.62e-30 SMART
ELM2 150 204 2.5e-17 SMART
SANT 267 316 7.94e-8 SMART
ZnF_GATA 372 426 8.33e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112352
AA Change: Y156H

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107971
Gene: ENSMUSG00000055817
AA Change: Y156H

DomainStartEndE-ValueType
BAH 4 147 2.62e-30 SMART
ELM2 150 204 2.5e-17 SMART
SANT 267 316 7.94e-8 SMART
ZnF_GATA 372 426 8.33e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176816
AA Change: Y4H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135752
Gene: ENSMUSG00000055817
AA Change: Y4H

DomainStartEndE-ValueType
ELM2 1 52 3.23e-11 SMART
SANT 115 164 7.94e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177416
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c T A 2: 58,283,549 probably benign Het
Alb G A 5: 90,470,839 probably null Het
Ankrd9 A G 12: 110,977,363 V46A probably damaging Het
Apol11a A T 15: 77,517,107 M265L probably benign Het
Ccdc158 T C 5: 92,662,739 N97D possibly damaging Het
Cobl T G 11: 12,253,987 H823P probably benign Het
Dnaja2 A T 8: 85,553,279 H90Q probably benign Het
Dpagt1 T C 9: 44,327,602 F73S possibly damaging Het
Dph3 C T 14: 32,085,460 E20K possibly damaging Het
Fam198a G A 9: 121,965,083 S101N possibly damaging Het
Fbxl13 G T 5: 21,490,414 T660K possibly damaging Het
Glt6d1 T C 2: 25,794,419 T192A probably benign Het
Mroh7 C T 4: 106,703,161 V649I probably benign Het
Myh14 A G 7: 44,643,532 L369P probably damaging Het
Olfr1263 T C 2: 90,015,007 C26R probably benign Het
Olfr1385 G T 11: 49,494,966 L144F probably damaging Het
Paxx T C 2: 25,460,265 D110G probably damaging Het
Pcyox1 T G 6: 86,388,753 D493A probably damaging Het
Plk2 A G 13: 110,399,442 E560G probably benign Het
Rnf6 A G 5: 146,210,226 F661L probably benign Het
Sema4a T C 3: 88,438,184 K531E probably benign Het
Svs2 T C 2: 164,237,526 K154E possibly damaging Het
Tbx4 A T 11: 85,911,943 Q242L probably damaging Het
Tgm3 A T 2: 130,044,568 I570F probably damaging Het
Thrap3 A T 4: 126,165,529 M908K possibly damaging Het
Trmo A G 4: 46,386,092 probably null Het
Usp8 T A 2: 126,758,152 L997Q probably damaging Het
Vmn1r202 T C 13: 22,501,720 R176G probably benign Het
Vps52 T A 17: 33,961,615 Y308* probably null Het
Other mutations in Mta3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Mta3 APN 17 83708432 missense probably damaging 1.00
IGL00467:Mta3 APN 17 83755684 splice site probably benign
IGL00475:Mta3 APN 17 83708432 missense probably damaging 1.00
IGL00539:Mta3 APN 17 83762983 missense probably benign 0.25
IGL03355:Mta3 APN 17 83800045 splice site probably benign
container UTSW 17 83708446 missense probably damaging 1.00
R0440:Mta3 UTSW 17 83766587 missense probably damaging 1.00
R0630:Mta3 UTSW 17 83714627 missense probably damaging 0.98
R1848:Mta3 UTSW 17 83755551 splice site probably benign
R1870:Mta3 UTSW 17 83781968 missense probably damaging 0.98
R2358:Mta3 UTSW 17 83762988 missense probably damaging 0.96
R2373:Mta3 UTSW 17 83784301 nonsense probably null
R2447:Mta3 UTSW 17 83804544 missense probably benign 0.03
R3711:Mta3 UTSW 17 83762988 missense probably damaging 0.96
R3712:Mta3 UTSW 17 83762988 missense probably damaging 0.96
R4107:Mta3 UTSW 17 83762914 missense probably benign 0.00
R4771:Mta3 UTSW 17 83755674 missense probably damaging 0.98
R5259:Mta3 UTSW 17 83804574 missense probably damaging 1.00
R5980:Mta3 UTSW 17 83708405 missense probably damaging 1.00
R6175:Mta3 UTSW 17 83791793 missense probably benign
R6555:Mta3 UTSW 17 83708446 missense probably damaging 1.00
R6909:Mta3 UTSW 17 83766551 missense possibly damaging 0.92
R7170:Mta3 UTSW 17 83714662 missense probably damaging 1.00
R7350:Mta3 UTSW 17 83708441 missense probably damaging 1.00
R7597:Mta3 UTSW 17 83775582 missense probably benign 0.05
R7638:Mta3 UTSW 17 83800143 missense probably benign
R7747:Mta3 UTSW 17 83791736 nonsense probably null
R7894:Mta3 UTSW 17 83762934 missense probably benign 0.01
R7977:Mta3 UTSW 17 83762934 missense probably benign 0.01
Z1088:Mta3 UTSW 17 83762914 missense probably benign 0.00
Z1177:Mta3 UTSW 17 83781968 missense probably damaging 0.98
Posted On2014-01-21