Incidental Mutation 'IGL00539:Mta3'
ID13622
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 non essential (E-score: 0.479) question?
Stock #IGL00539
Quality Score
Status
Chromosome17
Chromosomal Location83706163-83821516 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 83762983 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 39 (R39Q)
Ref Sequence ENSEMBL: ENSMUSP00000135752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067826] [ENSMUST00000112349] [ENSMUST00000112350] [ENSMUST00000112352] [ENSMUST00000176816] [ENSMUST00000177069]
Predicted Effect probably benign
Transcript: ENSMUST00000067826
AA Change: R190Q

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000068931
Gene: ENSMUSG00000055817
AA Change: R190Q

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 probably benign
Transcript: ENSMUST00000112349
AA Change: R191Q

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107968
Gene: ENSMUSG00000055817
AA Change: R191Q

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: R191Q

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107969
Gene: ENSMUSG00000055817
AA Change: R191Q

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 probably benign
Transcript: ENSMUST00000112352
AA Change: R191Q

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107971
Gene: ENSMUSG00000055817
AA Change: R191Q

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 probably benign
Transcript: ENSMUST00000176816
AA Change: R39Q

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135752
Gene: ENSMUSG00000055817
AA Change: R39Q

DomainStartEndE-ValueType
ELM2 1 52 3.23e-11 SMART
SANT 115 164 7.94e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177069
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C A 19: 9,007,908 D2185E possibly damaging Het
Camk2b A G 11: 5,972,310 S560P probably damaging Het
Cdh13 C A 8: 119,312,506 N562K possibly damaging Het
Cdhr4 A G 9: 107,999,545 Y771C probably damaging Het
Ermap A G 4: 119,183,917 S299P probably damaging Het
Fgd3 A G 13: 49,275,643 probably benign Het
Fpr-rs4 T A 17: 18,021,926 L65Q probably damaging Het
Hsph1 C T 5: 149,618,789 R723H possibly damaging Het
Iqcb1 A G 16: 36,858,511 K396E probably damaging Het
Kif21a T C 15: 90,937,301 T1424A probably damaging Het
Mpdz T C 4: 81,361,351 S700G possibly damaging Het
Muc4 A T 16: 32,750,910 T263S possibly damaging Het
Ncan G A 8: 70,115,271 P64S probably benign Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Pla2g4f T C 2: 120,302,738 H660R possibly damaging Het
Polq A G 16: 37,060,569 T753A probably damaging Het
Ptchd4 C T 17: 42,316,926 Q93* probably null Het
Sfpq T C 4: 127,023,688 V437A possibly damaging Het
Slc18b1 G A 10: 23,824,761 probably null Het
Taf1c C T 8: 119,601,328 V277I possibly damaging Het
Tcf20 T A 15: 82,852,756 Q1498L probably benign Het
Tet1 C A 10: 62,814,497 C1644F probably damaging Het
Trmt5 T C 12: 73,284,919 E121G possibly damaging Het
Wapl A G 14: 34,695,008 D525G probably damaging Het
Ylpm1 A G 12: 85,028,954 T360A possibly damaging Het
Zfp292 G A 4: 34,808,790 P1418L probably damaging 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
IGL01722:Mta3 APN 17 83755643 missense possibly damaging 0.95
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
R8170:Mta3 UTSW 17 83791661 missense probably damaging 1.00
Z1088:Mta3 UTSW 17 83762914 missense probably benign 0.00
Z1177:Mta3 UTSW 17 83781968 missense probably damaging 0.98
Posted On2012-12-06