Incidental Mutation 'IGL02448:Mtmr10'
ID 293604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr10
Ensembl Gene ENSMUSG00000030522
Gene Name myotubularin related protein 10
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # IGL02448
Quality Score
Status
Chromosome 7
Chromosomal Location 63937418-63990554 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63957898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 166 (Y166F)
Ref Sequence ENSEMBL: ENSMUSP00000146259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032736] [ENSMUST00000206452]
AlphaFold Q7TPM9
Predicted Effect probably benign
Transcript: ENSMUST00000032736
AA Change: Y166F

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: Y166F

DomainStartEndE-ValueType
Pfam:Myotub-related 176 330 8.6e-12 PFAM
Pfam:Myotub-related 319 508 2.7e-56 PFAM
Pfam:3-PAP 570 701 2.2e-57 PFAM
low complexity region 730 737 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000206452
AA Change: Y166F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000206680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206732
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,786,866 (GRCm39) I286F probably damaging Het
Arhgap5 A G 12: 52,609,123 (GRCm39) E1366G probably damaging Het
Blzf1 T A 1: 164,123,350 (GRCm39) I326F possibly damaging Het
Cc2d2a A C 5: 43,840,547 (GRCm39) probably benign Het
Cdc37 T C 9: 21,051,147 (GRCm39) E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 (GRCm39) S279P probably benign Het
Cdh18 T C 15: 23,173,875 (GRCm39) S30P probably benign Het
Cep192 A G 18: 68,002,518 (GRCm39) T2238A probably benign Het
Cpped1 C T 16: 11,623,253 (GRCm39) E289K probably benign Het
Ctsq A T 13: 61,184,044 (GRCm39) Y293N probably damaging Het
Epb41l2 A G 10: 25,369,493 (GRCm39) N20S possibly damaging Het
Gcc2 T A 10: 58,128,393 (GRCm39) C1304* probably null Het
Hsd3b5 C T 3: 98,529,447 (GRCm39) G61E probably damaging Het
Igfals A T 17: 25,099,161 (GRCm39) N84I probably damaging Het
Irs2 A T 8: 11,057,862 (GRCm39) V190D probably benign Het
Kank1 T A 19: 25,388,739 (GRCm39) L804Q probably damaging Het
Kcnj2 G T 11: 110,963,108 (GRCm39) V167L probably benign Het
Kif20a T C 18: 34,761,507 (GRCm39) V300A possibly damaging Het
Kmt2d T C 15: 98,741,991 (GRCm39) probably benign Het
Moxd1 T C 10: 24,158,617 (GRCm39) F424L probably damaging Het
Mpeg1 A C 19: 12,439,973 (GRCm39) D477A probably benign Het
Muc5b T G 7: 141,422,226 (GRCm39) I4454S possibly damaging Het
Ntng1 G A 3: 109,841,875 (GRCm39) probably benign Het
Or52r1b T C 7: 102,691,604 (GRCm39) I306T possibly damaging Het
Or7e175 T A 9: 20,048,937 (GRCm39) L175* probably null Het
Pex11a A T 7: 79,387,208 (GRCm39) probably null Het
Plcg2 A G 8: 118,333,960 (GRCm39) D911G probably benign Het
Rc3h2 T C 2: 37,279,817 (GRCm39) T471A probably benign Het
Rif1 T A 2: 52,006,708 (GRCm39) L2214Q probably damaging Het
Rtel1 T A 2: 180,977,830 (GRCm39) S120T probably benign Het
Ryr1 A G 7: 28,804,491 (GRCm39) probably benign Het
Sh3yl1 G T 12: 30,989,666 (GRCm39) A129S probably damaging Het
Slc25a10 A G 11: 120,387,879 (GRCm39) T191A probably benign Het
Slc8b1 T C 5: 120,663,856 (GRCm39) S359P probably damaging Het
Srf T C 17: 46,866,349 (GRCm39) T136A possibly damaging Het
Stx1a G T 5: 135,052,473 (GRCm39) probably benign Het
Taf1d T A 9: 15,221,690 (GRCm39) C224* probably null Het
Tnik A G 3: 28,675,226 (GRCm39) S700G probably null Het
Ttn T C 2: 76,773,331 (GRCm39) H2357R probably benign Het
Ttn T C 2: 76,566,458 (GRCm39) E28145G probably damaging Het
Ush1c C A 7: 45,858,561 (GRCm39) V576F possibly damaging Het
Xpc T C 6: 91,492,726 (GRCm39) E19G probably benign Het
Zdhhc25 G A 15: 88,485,045 (GRCm39) V127M probably damaging Het
Other mutations in Mtmr10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Mtmr10 APN 7 63,987,460 (GRCm39) missense probably benign
IGL02082:Mtmr10 APN 7 63,983,238 (GRCm39) splice site probably benign
IGL02234:Mtmr10 APN 7 63,949,350 (GRCm39) missense probably benign 0.04
IGL02515:Mtmr10 APN 7 63,987,259 (GRCm39) missense probably damaging 1.00
Curlyq UTSW 7 63,983,187 (GRCm39) missense probably damaging 1.00
K7371:Mtmr10 UTSW 7 63,963,958 (GRCm39) missense probably benign 0.18
PIT4472001:Mtmr10 UTSW 7 63,983,106 (GRCm39) missense probably benign 0.23
R0302:Mtmr10 UTSW 7 63,947,245 (GRCm39) missense probably damaging 1.00
R0619:Mtmr10 UTSW 7 63,970,961 (GRCm39) missense probably benign 0.00
R0787:Mtmr10 UTSW 7 63,950,363 (GRCm39) missense possibly damaging 0.95
R0972:Mtmr10 UTSW 7 63,976,457 (GRCm39) missense probably damaging 1.00
R1482:Mtmr10 UTSW 7 63,963,997 (GRCm39) missense probably damaging 1.00
R1770:Mtmr10 UTSW 7 63,986,469 (GRCm39) missense possibly damaging 0.47
R1826:Mtmr10 UTSW 7 63,987,214 (GRCm39) missense probably benign 0.00
R2174:Mtmr10 UTSW 7 63,986,512 (GRCm39) missense possibly damaging 0.94
R2215:Mtmr10 UTSW 7 63,987,403 (GRCm39) missense probably benign 0.00
R2352:Mtmr10 UTSW 7 63,947,328 (GRCm39) missense possibly damaging 0.71
R2411:Mtmr10 UTSW 7 63,947,245 (GRCm39) missense probably damaging 1.00
R3702:Mtmr10 UTSW 7 63,987,647 (GRCm39) missense probably damaging 1.00
R3710:Mtmr10 UTSW 7 63,976,433 (GRCm39) missense possibly damaging 0.86
R3802:Mtmr10 UTSW 7 63,970,376 (GRCm39) missense probably benign 0.29
R4190:Mtmr10 UTSW 7 63,963,934 (GRCm39) missense probably benign 0.37
R4484:Mtmr10 UTSW 7 63,970,379 (GRCm39) missense possibly damaging 0.86
R4562:Mtmr10 UTSW 7 63,963,907 (GRCm39) missense possibly damaging 0.92
R5128:Mtmr10 UTSW 7 63,983,187 (GRCm39) missense probably damaging 1.00
R5203:Mtmr10 UTSW 7 63,967,909 (GRCm39) missense probably benign
R5444:Mtmr10 UTSW 7 63,938,149 (GRCm39) splice site probably null
R5627:Mtmr10 UTSW 7 63,986,500 (GRCm39) missense probably damaging 1.00
R5786:Mtmr10 UTSW 7 63,987,458 (GRCm39) missense probably damaging 1.00
R7078:Mtmr10 UTSW 7 63,970,375 (GRCm39) missense possibly damaging 0.65
R7236:Mtmr10 UTSW 7 63,963,932 (GRCm39) utr 3 prime probably benign
R7575:Mtmr10 UTSW 7 63,947,213 (GRCm39) missense probably damaging 0.99
R7863:Mtmr10 UTSW 7 63,969,205 (GRCm39) missense probably benign 0.03
R7939:Mtmr10 UTSW 7 63,963,899 (GRCm39) missense probably benign 0.19
R9370:Mtmr10 UTSW 7 63,969,249 (GRCm39) missense probably benign 0.12
Posted On 2015-04-16