Incidental Mutation 'IGL02632:Mtss1'
ID 301334
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtss1
Ensembl Gene ENSMUSG00000022353
Gene Name MTSS I-BAR domain containing 1
Synonyms 2310003N14Rik, D130001D01Rik, MIM
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # IGL02632
Quality Score
Status
Chromosome 15
Chromosomal Location 58813083-58953854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58815864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 565 (M565I)
Ref Sequence ENSEMBL: ENSMUSP00000079239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022980] [ENSMUST00000080371]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022980
SMART Domains Protein: ENSMUSP00000022980
Gene: ENSMUSG00000022354

DomainStartEndE-ValueType
Pfam:Complex1_LYR 13 73 1.2e-11 PFAM
Pfam:Complex1_LYR_1 14 74 5.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080371
AA Change: M565I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079239
Gene: ENSMUSG00000022353
AA Change: M565I

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 probably benign
Transcript: ENSMUST00000228067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227290
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T C 8: 41,208,237 (GRCm39) V501A possibly damaging Het
Alpl T G 4: 137,481,217 (GRCm39) N145T probably damaging Het
Aqp5 T A 15: 99,491,216 (GRCm39) probably benign Het
Atp1a2 T A 1: 172,108,181 (GRCm39) D640V possibly damaging Het
Atp5po T C 16: 91,725,830 (GRCm39) E49G probably benign Het
Card14 A G 11: 119,229,730 (GRCm39) D747G probably benign Het
Cfap47 A T X: 78,540,279 (GRCm39) L553H probably damaging Het
Cpz A T 5: 35,669,155 (GRCm39) D325E possibly damaging Het
Crim1 T C 17: 78,680,103 (GRCm39) I948T probably benign Het
Dpysl3 A T 18: 43,526,090 (GRCm39) S2T possibly damaging Het
Fat4 T C 3: 39,056,913 (GRCm39) V4203A probably benign Het
Gapvd1 G A 2: 34,574,186 (GRCm39) probably benign Het
Gpatch2 A G 1: 186,958,178 (GRCm39) R155G probably damaging Het
Grpr A T X: 162,298,090 (GRCm39) V318E probably damaging Het
Hipk1 T C 3: 103,667,861 (GRCm39) T569A probably benign Het
Il3ra G A 14: 14,350,807 (GRCm38) probably null Het
Llgl2 A G 11: 115,735,698 (GRCm39) H98R probably damaging Het
Loxhd1 A G 18: 77,493,628 (GRCm39) D663G probably damaging Het
Lrrc71 T C 3: 87,650,647 (GRCm39) N205S probably damaging Het
Mamdc2 C T 19: 23,308,340 (GRCm39) E521K probably benign Het
Mapre2 A G 18: 23,991,217 (GRCm39) M162V probably benign Het
Mettl22 T C 16: 8,302,117 (GRCm39) probably benign Het
Mib2 T C 4: 155,740,036 (GRCm39) D739G probably damaging Het
Mroh2b T C 15: 4,960,583 (GRCm39) F772S probably damaging Het
Myt1l T G 12: 29,964,292 (GRCm39) S1077A unknown Het
Nalcn T C 14: 123,555,265 (GRCm39) T873A probably benign Het
Nwd1 T A 8: 73,394,082 (GRCm39) H448Q possibly damaging Het
Odad2 A G 18: 7,214,727 (GRCm39) probably benign Het
Or14j3 T C 17: 37,901,232 (GRCm39) E4G probably benign Het
Or51m1 A G 7: 103,578,914 (GRCm39) I295V possibly damaging Het
Or5j3 T C 2: 86,128,904 (GRCm39) V248A probably damaging Het
Palld C T 8: 61,968,279 (GRCm39) E1096K probably damaging Het
Pdcd2 A G 17: 15,742,054 (GRCm39) V292A probably damaging Het
Pde2a A G 7: 101,153,863 (GRCm39) Y477C probably damaging Het
Pramel16 A G 4: 143,676,507 (GRCm39) I199T possibly damaging Het
Rcbtb1 T C 14: 59,462,131 (GRCm39) L254P probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rsl1 A C 13: 67,330,227 (GRCm39) H225P probably damaging Het
Sec14l2 T C 11: 4,061,222 (GRCm39) I80V probably benign Het
Sema6a G T 18: 47,423,222 (GRCm39) D261E probably damaging Het
Serpinb9b T A 13: 33,223,806 (GRCm39) S333T probably benign Het
Slc24a4 T C 12: 102,200,941 (GRCm39) V277A probably benign Het
Snap91 T A 9: 86,721,575 (GRCm39) H88L possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmprss15 T A 16: 78,782,790 (GRCm39) N758I probably damaging Het
Ube3b C T 5: 114,536,902 (GRCm39) A300V probably benign Het
Vmn2r82 G A 10: 79,192,542 (GRCm39) V40I probably benign Het
Vsig4 G T X: 95,291,378 (GRCm39) Q265K probably benign Het
Wdr91 T C 6: 34,865,977 (GRCm39) D525G probably damaging Het
Other mutations in Mtss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Mtss1 APN 15 58,823,317 (GRCm39) critical splice donor site probably null
IGL00693:Mtss1 APN 15 58,815,973 (GRCm39) missense probably damaging 1.00
IGL00817:Mtss1 APN 15 58,815,481 (GRCm39) splice site probably null
IGL00923:Mtss1 APN 15 58,815,348 (GRCm39) missense possibly damaging 0.80
IGL01704:Mtss1 APN 15 58,926,932 (GRCm39) missense possibly damaging 0.91
IGL02257:Mtss1 APN 15 58,828,394 (GRCm39) missense probably damaging 1.00
IGL02829:Mtss1 APN 15 58,930,277 (GRCm39) splice site probably benign
IGL02838:Mtss1 APN 15 58,953,364 (GRCm39) missense probably benign 0.06
IGL02968:Mtss1 APN 15 58,828,364 (GRCm39) missense possibly damaging 0.77
IGL03012:Mtss1 APN 15 58,930,249 (GRCm39) missense probably damaging 0.97
IGL03022:Mtss1 APN 15 58,825,439 (GRCm39) missense probably damaging 1.00
R0193:Mtss1 UTSW 15 58,815,866 (GRCm39) missense probably damaging 0.99
R0498:Mtss1 UTSW 15 58,817,286 (GRCm39) missense probably damaging 1.00
R0510:Mtss1 UTSW 15 58,828,387 (GRCm39) missense probably benign 0.07
R0655:Mtss1 UTSW 15 58,953,351 (GRCm39) missense probably damaging 0.99
R1183:Mtss1 UTSW 15 58,842,897 (GRCm39) missense probably damaging 0.97
R1428:Mtss1 UTSW 15 58,819,239 (GRCm39) missense probably benign 0.04
R1503:Mtss1 UTSW 15 58,823,521 (GRCm39) missense probably damaging 1.00
R1597:Mtss1 UTSW 15 58,815,560 (GRCm39) missense probably damaging 1.00
R1795:Mtss1 UTSW 15 58,930,249 (GRCm39) missense possibly damaging 0.92
R3689:Mtss1 UTSW 15 58,825,385 (GRCm39) missense probably damaging 1.00
R4724:Mtss1 UTSW 15 58,953,367 (GRCm39) missense probably damaging 0.98
R4811:Mtss1 UTSW 15 58,815,922 (GRCm39) missense probably damaging 1.00
R4968:Mtss1 UTSW 15 58,815,767 (GRCm39) missense probably damaging 1.00
R5082:Mtss1 UTSW 15 58,842,868 (GRCm39) missense probably damaging 1.00
R5783:Mtss1 UTSW 15 58,815,373 (GRCm39) missense probably benign 0.05
R6253:Mtss1 UTSW 15 58,815,568 (GRCm39) missense probably benign 0.02
R6767:Mtss1 UTSW 15 58,825,430 (GRCm39) missense probably benign 0.00
R6890:Mtss1 UTSW 15 58,823,508 (GRCm39) missense probably damaging 1.00
R7001:Mtss1 UTSW 15 58,820,183 (GRCm39) intron probably benign
R7502:Mtss1 UTSW 15 58,820,210 (GRCm39) missense probably damaging 0.96
R7722:Mtss1 UTSW 15 58,926,935 (GRCm39) missense probably damaging 1.00
R7867:Mtss1 UTSW 15 58,842,858 (GRCm39) missense possibly damaging 0.82
R7888:Mtss1 UTSW 15 58,844,373 (GRCm39) missense probably damaging 1.00
R8954:Mtss1 UTSW 15 58,826,986 (GRCm39) missense probably damaging 1.00
R9493:Mtss1 UTSW 15 58,926,869 (GRCm39) missense probably damaging 1.00
Z1177:Mtss1 UTSW 15 58,817,269 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16