Incidental Mutation 'IGL01308:Mtmr7'
ID73538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr7
Ensembl Gene ENSMUSG00000039431
Gene Namemyotubularin related protein 7
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01308
Quality Score
Status
Chromosome8
Chromosomal Location40551095-40634797 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 40597345 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 136 (Y136N)
Ref Sequence ENSEMBL: ENSMUSP00000043851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048890] [ENSMUST00000048898] [ENSMUST00000173957] [ENSMUST00000174205]
Predicted Effect probably damaging
Transcript: ENSMUST00000048890
AA Change: Y136N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431
AA Change: Y136N

DomainStartEndE-ValueType
Pfam:Myotub-related 108 450 4.9e-145 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000048898
AA Change: Y136N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: Y136N

DomainStartEndE-ValueType
Pfam:Myotub-related 109 448 1.6e-143 PFAM
coiled coil region 514 553 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173957
AA Change: Y95N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134020
Gene: ENSMUSG00000039431
AA Change: Y95N

DomainStartEndE-ValueType
Pfam:Myotub-related 67 260 4e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174205
AA Change: Y136N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: Y136N

DomainStartEndE-ValueType
Pfam:Myotub-related 108 450 7.2e-145 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 79,099,249 D1256G probably damaging Het
Acot7 A T 4: 152,260,896 M308L probably benign Het
Adarb2 A G 13: 8,203,293 R25G possibly damaging Het
Ano1 C A 7: 144,595,498 Q875H probably damaging Het
Ano6 G A 15: 95,913,661 probably null Het
Ehbp1 G A 11: 22,138,022 P354L probably damaging Het
Eml5 T C 12: 98,802,313 H1454R probably damaging Het
Esyt1 T A 10: 128,519,791 N421Y possibly damaging Het
Gen1 T C 12: 11,256,870 T100A probably damaging Het
Gm11639 A T 11: 104,720,697 D455V probably benign Het
Gm15292 C T 8: 21,250,418 T80I probably damaging Het
Jak3 A T 8: 71,685,166 D780V probably damaging Het
Klrb1a A G 6: 128,618,045 probably benign Het
Lrp8 A G 4: 107,864,076 I826M probably benign Het
Mcmbp G A 7: 128,714,485 Q214* probably null Het
Ndor1 A G 2: 25,250,139 Y88H probably benign Het
Nkx2-4 A G 2: 147,084,340 Y201H possibly damaging Het
Olfr411 A G 11: 74,346,660 L308P probably damaging Het
Olfr503 T A 7: 108,544,726 L65* probably null Het
Olfr774 A T 10: 129,238,607 T153S probably benign Het
Pigg T C 5: 108,336,477 L663P probably damaging Het
Pik3cd A G 4: 149,657,460 V343A probably damaging Het
Plekha4 A G 7: 45,538,235 S244G probably damaging Het
Prkce T A 17: 86,625,462 D623E probably damaging Het
Rasgrf2 A G 13: 92,022,917 probably benign Het
Rexo5 T C 7: 119,834,276 W419R probably damaging Het
Rnaseh2b A G 14: 62,365,257 probably null Het
Rras A G 7: 45,021,285 Y193C possibly damaging Het
Sall4 T C 2: 168,750,244 I997V probably damaging Het
Sec31b A G 19: 44,523,683 F591L probably benign Het
Skiv2l A G 17: 34,840,634 L232P probably benign Het
Slc13a3 A T 2: 165,406,780 I526N probably damaging Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Snrnp25 A G 11: 32,208,745 probably benign Het
Tex264 T C 9: 106,662,408 K201E possibly damaging Het
Tgfb1 G T 7: 25,688,017 R50L probably damaging Het
Tle4 A G 19: 14,468,261 V207A probably benign Het
Tmed1 A T 9: 21,510,042 C45* probably null Het
Tmem260 A G 14: 48,511,958 N638S probably damaging Het
Traf3ip3 T C 1: 193,184,891 E274G probably damaging Het
Trak1 T C 9: 121,443,736 probably null Het
Trim3 A T 7: 105,617,469 V502E probably damaging Het
Trmo C T 4: 46,377,053 probably benign Het
Xab2 C T 8: 3,616,332 R192Q probably benign Het
Other mutations in Mtmr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Mtmr7 APN 8 40597422 missense probably damaging 1.00
IGL01773:Mtmr7 APN 8 40581419 missense probably damaging 1.00
IGL02040:Mtmr7 APN 8 40560885 missense probably benign 0.01
IGL02195:Mtmr7 APN 8 40560905 missense probably damaging 0.96
IGL03394:Mtmr7 APN 8 40608929 missense probably damaging 0.97
BB001:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
BB003:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
BB011:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
BB013:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
R0116:Mtmr7 UTSW 8 40581405 splice site probably benign
R0379:Mtmr7 UTSW 8 40551601 missense probably damaging 1.00
R1443:Mtmr7 UTSW 8 40560882 missense probably damaging 1.00
R1763:Mtmr7 UTSW 8 40551811 missense probably benign
R4372:Mtmr7 UTSW 8 40554345 missense probably damaging 1.00
R4482:Mtmr7 UTSW 8 40554384 missense probably benign 0.32
R4502:Mtmr7 UTSW 8 40558162 missense possibly damaging 0.94
R4622:Mtmr7 UTSW 8 40581541 missense probably damaging 1.00
R4833:Mtmr7 UTSW 8 40590462 missense probably damaging 1.00
R4849:Mtmr7 UTSW 8 40608997 missense probably benign 0.00
R4991:Mtmr7 UTSW 8 40554345 missense probably damaging 1.00
R5424:Mtmr7 UTSW 8 40606830 missense probably benign
R5707:Mtmr7 UTSW 8 40558162 missense possibly damaging 0.94
R5929:Mtmr7 UTSW 8 40558358 critical splice acceptor site probably null
R5985:Mtmr7 UTSW 8 40551832 missense probably benign
R6013:Mtmr7 UTSW 8 40581528 missense probably damaging 1.00
R6249:Mtmr7 UTSW 8 40581482 missense probably damaging 1.00
R7052:Mtmr7 UTSW 8 40555833 missense possibly damaging 0.83
R7249:Mtmr7 UTSW 8 40590477 missense probably benign 0.11
R7538:Mtmr7 UTSW 8 40597384 missense probably damaging 1.00
R7698:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
R7699:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
R7700:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
R7708:Mtmr7 UTSW 8 40590511 missense probably damaging 0.98
R7890:Mtmr7 UTSW 8 40551735 missense possibly damaging 0.91
R7973:Mtmr7 UTSW 8 40551735 missense possibly damaging 0.91
R8059:Mtmr7 UTSW 8 40581522 missense probably damaging 1.00
Z1177:Mtmr7 UTSW 8 40597379 missense probably benign 0.01
Posted On2013-10-07