Incidental Mutation 'R6253:Mtss1'
ID 506355
Institutional Source Beutler Lab
Gene Symbol Mtss1
Ensembl Gene ENSMUSG00000022353
Gene Name MTSS I-BAR domain containing 1
Synonyms 2310003N14Rik, D130001D01Rik, MIM
MMRRC Submission 044370-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # R6253 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 58813083-58953854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58815568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 664 (I664T)
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 benign
Transcript: ENSMUST00000080371
AA Change: I664T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000079239
Gene: ENSMUSG00000022353
AA Change: I664T

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,528,929 (GRCm39) Y151H possibly damaging Het
Aasdh A G 5: 77,034,105 (GRCm39) I482T possibly damaging Het
Abca3 G A 17: 24,616,526 (GRCm39) M989I probably benign Het
Acvr2b C T 9: 119,257,627 (GRCm39) P220L probably damaging Het
Aqr T C 2: 113,986,758 (GRCm39) D204G possibly damaging Het
Arpp19 G T 9: 74,964,016 (GRCm39) D123Y probably damaging Het
Bod1l A G 5: 41,983,881 (GRCm39) I554T probably damaging Het
Bpifa5 A G 2: 154,005,420 (GRCm39) M1V probably null Het
Cdh3 T A 8: 107,263,695 (GRCm39) probably null Het
Cep170 A T 1: 176,607,960 (GRCm39) D165E possibly damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Cog3 A G 14: 75,957,152 (GRCm39) L627P probably damaging Het
Col23a1 C T 11: 51,464,995 (GRCm39) L453F probably damaging Het
Cyp2a22 T A 7: 26,633,657 (GRCm39) Q351L probably benign Het
Ddx4 T G 13: 112,772,557 (GRCm39) K77N probably benign Het
Ddx4 C A 13: 112,772,556 (GRCm39) E78* probably null Het
Decr1 A T 4: 15,931,179 (GRCm39) N92K probably benign Het
Dnm2 T C 9: 21,411,571 (GRCm39) L600P probably damaging Het
Ece2 A C 16: 20,457,932 (GRCm39) N356H probably damaging Het
Ern1 A T 11: 106,317,734 (GRCm39) I130N possibly damaging Het
Fat2 G A 11: 55,187,097 (GRCm39) R1250C probably damaging Het
Fat4 T A 3: 39,005,505 (GRCm39) V1968D probably damaging Het
Frmd6 A G 12: 70,923,987 (GRCm39) K82E probably damaging Het
Gm5431 A G 11: 48,785,826 (GRCm39) V183A probably benign Het
Golgb1 T C 16: 36,735,984 (GRCm39) S1744P possibly damaging Het
Hnrnpa3 C G 2: 75,492,914 (GRCm39) Q213E possibly damaging Het
Hspa1a A G 17: 35,189,526 (GRCm39) F459S probably damaging Het
Ice1 A G 13: 70,751,283 (GRCm39) L1601P probably damaging Het
Igkv19-93 T A 6: 68,713,323 (GRCm39) D102V probably damaging Het
Kansl1 G A 11: 104,248,352 (GRCm39) T534I probably benign Het
Lpin2 T A 17: 71,538,264 (GRCm39) S303R probably damaging Het
Lrpprc T A 17: 85,048,065 (GRCm39) I845F probably benign Het
Mdn1 A G 4: 32,749,593 (GRCm39) T4259A probably benign Het
Mtcl2 T C 2: 156,863,339 (GRCm39) S1197G probably benign Het
Myh8 A G 11: 67,192,793 (GRCm39) E1528G probably benign Het
Myo5c A T 9: 75,152,319 (GRCm39) E69V probably damaging Het
Myom3 A T 4: 135,513,203 (GRCm39) D627V probably benign Het
Myom3 A G 4: 135,528,314 (GRCm39) N1053S probably benign Het
Or10a4 G A 7: 106,697,464 (GRCm39) R264H possibly damaging Het
Or2d2b A T 7: 106,705,145 (GRCm39) S308T probably benign Het
Or6z3 T C 7: 6,463,547 (GRCm39) V13A probably benign Het
Phactr1 T A 13: 43,248,247 (GRCm39) S399T probably benign Het
Plch2 T A 4: 155,091,558 (GRCm39) Y84F probably damaging Het
Ppp1r13b A G 12: 111,802,160 (GRCm39) S278P probably benign Het
Prol1 A G 5: 88,475,736 (GRCm39) Y42C probably damaging Het
Pum2 A G 12: 8,798,205 (GRCm39) E906G probably damaging Het
Pwwp3a T A 10: 80,068,848 (GRCm39) C331S probably benign Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rbp4 G A 19: 38,113,428 (GRCm39) T30M probably benign Het
Selenbp1 T C 3: 94,851,157 (GRCm39) L351P possibly damaging Het
Serpinb6b T C 13: 33,156,255 (GRCm39) F115S probably damaging Het
Tigd3 A T 19: 5,942,870 (GRCm39) Y87N probably damaging Het
Tigd5 T A 15: 75,782,871 (GRCm39) L411H probably damaging Het
Ttc3 T C 16: 94,258,272 (GRCm39) probably null Het
Uhmk1 T C 1: 170,027,449 (GRCm39) Q416R probably damaging Het
Zfand4 T C 6: 116,250,575 (GRCm39) F2L probably damaging Het
Zfhx3 C T 8: 109,682,020 (GRCm39) T3153M possibly damaging Het
Zfp697 T G 3: 98,334,855 (GRCm39) C207G possibly damaging Het
Zfp935 T C 13: 62,602,685 (GRCm39) T172A probably benign Het
Znrf3 G T 11: 5,230,865 (GRCm39) L883I probably benign 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
IGL02632:Mtss1 APN 15 58,815,864 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TCCGGATGGCGTTCAACATG -3'
(R):5'- CATCGGAGCTGGTCCTATTC -3'

Sequencing Primer
(F):5'- CGGATGGCGTTCAACATGTCTTC -3'
(R):5'- GGAGCTGGTCCTATTCCCATCAAG -3'
Posted On 2018-03-15