Incidental Mutation 'IGL02257:Mtss1'
ID286634
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtss1
Ensembl Gene ENSMUSG00000022353
Gene Namemetastasis suppressor 1
SynonymsD130001D01Rik, 2310003N14Rik, MIM
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.705) question?
Stock #IGL02257
Quality Score
Status
Chromosome15
Chromosomal Location58941234-59082005 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58956545 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 173 (V173A)
Ref Sequence ENSEMBL: ENSMUSP00000079239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080371]
Predicted Effect probably damaging
Transcript: ENSMUST00000080371
AA Change: V173A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079239
Gene: ENSMUSG00000022353
AA Change: V173A

DomainStartEndE-ValueType
Pfam:IMD 16 241 2.1e-107 PFAM
low complexity region 257 309 N/A INTRINSIC
low complexity region 443 459 N/A INTRINSIC
low complexity region 612 628 N/A INTRINSIC
WH2 731 748 1.36e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226976
Predicted Effect probably benign
Transcript: ENSMUST00000227045
Predicted Effect probably benign
Transcript: ENSMUST00000227196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227290
Predicted Effect probably benign
Transcript: ENSMUST00000228067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228365
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit polycystic kidney in 50% of mice by 5 months of age. Mouse embryonic fibroblasts from mice homozygous for a different gene trap allele exhibit altered cell morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat C T 11: 116,595,709 Q25* probably null Het
Adam8 A T 7: 139,987,648 V394D possibly damaging Het
Ahnak2 A G 12: 112,785,285 F314S possibly damaging Het
Arsg T C 11: 109,521,647 probably benign Het
Atp13a2 T G 4: 141,006,089 V958G probably benign Het
BC003331 A T 1: 150,386,404 I95N probably damaging Het
Ces5a T C 8: 93,525,598 D218G probably benign Het
Cntnap4 T A 8: 112,616,494 L63Q probably damaging Het
Cped1 A G 6: 22,145,607 T655A possibly damaging Het
Ddc A T 11: 11,873,171 L133* probably null Het
Fat4 C T 3: 39,001,139 A4169V probably benign Het
Gnpat T C 8: 124,886,848 probably benign Het
Gpd2 A G 2: 57,364,524 D678G probably benign Het
Hk1 T C 10: 62,271,643 D851G probably benign Het
Hsd11b2 G A 8: 105,523,222 V322I probably benign Het
Hsd17b3 G A 13: 64,059,462 T255M probably benign Het
Hsp90b1 T C 10: 86,698,589 S284G probably damaging Het
Med1 T A 11: 98,180,270 I69L probably damaging Het
Morn3 T G 5: 123,037,725 D200A probably damaging Het
Mut C T 17: 40,938,734 T200I possibly damaging Het
Myl6b T C 10: 128,497,341 probably benign Het
Nin A G 12: 70,102,691 V48A possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1490 G A 19: 13,655,265 V279I probably benign Het
Phlpp2 T A 8: 109,920,099 V529E possibly damaging Het
Pnlip G A 19: 58,673,874 V151I probably benign Het
Pus7 A C 5: 23,762,461 H247Q probably damaging Het
Setd6 T C 8: 95,716,692 Y188H probably damaging Het
Siglecg T C 7: 43,411,904 S444P probably benign Het
Sox9 C A 11: 112,784,985 H333Q possibly damaging Het
Specc1 T A 11: 62,118,417 I333N probably damaging Het
Tmprss11e G A 5: 86,724,180 T59I probably damaging Het
Vmn2r93 A C 17: 18,325,508 probably benign Het
Vrk2 A T 11: 26,534,266 V163D probably damaging Het
Other mutations in Mtss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Mtss1 APN 15 58951468 critical splice donor site probably null
IGL00693:Mtss1 APN 15 58944124 missense probably damaging 1.00
IGL00817:Mtss1 APN 15 58943632 unclassified probably null
IGL00923:Mtss1 APN 15 58943499 missense possibly damaging 0.80
IGL01704:Mtss1 APN 15 59055083 missense possibly damaging 0.91
IGL02632:Mtss1 APN 15 58944015 missense probably damaging 0.99
IGL02829:Mtss1 APN 15 59058428 splice site probably benign
IGL02838:Mtss1 APN 15 59081515 missense probably benign 0.06
IGL02968:Mtss1 APN 15 58956515 missense possibly damaging 0.77
IGL03012:Mtss1 APN 15 59058400 missense probably damaging 0.97
IGL03022:Mtss1 APN 15 58953590 missense probably damaging 1.00
R0193:Mtss1 UTSW 15 58944017 missense probably damaging 0.99
R0498:Mtss1 UTSW 15 58945437 missense probably damaging 1.00
R0510:Mtss1 UTSW 15 58956538 missense probably benign 0.07
R0655:Mtss1 UTSW 15 59081502 missense probably damaging 0.99
R1183:Mtss1 UTSW 15 58971048 missense probably damaging 0.97
R1428:Mtss1 UTSW 15 58947390 missense probably benign 0.04
R1503:Mtss1 UTSW 15 58951672 missense probably damaging 1.00
R1597:Mtss1 UTSW 15 58943711 missense probably damaging 1.00
R1795:Mtss1 UTSW 15 59058400 missense possibly damaging 0.92
R3689:Mtss1 UTSW 15 58953536 missense probably damaging 1.00
R4724:Mtss1 UTSW 15 59081518 missense probably damaging 0.98
R4811:Mtss1 UTSW 15 58944073 missense probably damaging 1.00
R4968:Mtss1 UTSW 15 58943918 missense probably damaging 1.00
R5082:Mtss1 UTSW 15 58971019 missense probably damaging 1.00
R5783:Mtss1 UTSW 15 58943524 missense probably benign 0.05
R6253:Mtss1 UTSW 15 58943719 missense probably benign 0.02
R6767:Mtss1 UTSW 15 58953581 missense probably benign 0.00
R6890:Mtss1 UTSW 15 58951659 missense probably damaging 1.00
R7001:Mtss1 UTSW 15 58948334 intron probably benign
R7502:Mtss1 UTSW 15 58948361 missense probably damaging 0.96
R7722:Mtss1 UTSW 15 59055086 missense probably damaging 1.00
R7867:Mtss1 UTSW 15 58971009 missense possibly damaging 0.82
R7888:Mtss1 UTSW 15 58972524 missense probably damaging 1.00
R7950:Mtss1 UTSW 15 58971009 missense possibly damaging 0.82
R7971:Mtss1 UTSW 15 58972524 missense probably damaging 1.00
Z1177:Mtss1 UTSW 15 58945420 missense probably damaging 1.00
Posted On2015-04-16