Incidental Mutation 'IGL01308:Mtmr7'
ID 73538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr7
Ensembl Gene ENSMUSG00000039431
Gene Name myotubularin related protein 7
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01308
Quality Score
Status
Chromosome 8
Chromosomal Location 41004136-41087840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41050388 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9Z2C9
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: 78,748,997 (GRCm39) D1256G probably damaging Het
Acot7 A T 4: 152,345,353 (GRCm39) M308L probably benign Het
Adarb2 A G 13: 8,253,329 (GRCm39) R25G possibly damaging Het
Ano1 C A 7: 144,149,235 (GRCm39) Q875H probably damaging Het
Ano6 G A 15: 95,811,542 (GRCm39) probably null Het
Defa40 C T 8: 21,740,434 (GRCm39) T80I probably damaging Het
Efcab3 A T 11: 104,611,523 (GRCm39) D455V probably benign Het
Ehbp1 G A 11: 22,088,022 (GRCm39) P354L probably damaging Het
Eml5 T C 12: 98,768,572 (GRCm39) H1454R probably damaging Het
Esyt1 T A 10: 128,355,660 (GRCm39) N421Y possibly damaging Het
Gen1 T C 12: 11,306,871 (GRCm39) T100A probably damaging Het
Jak3 A T 8: 72,137,810 (GRCm39) D780V probably damaging Het
Klrb1a A G 6: 128,595,008 (GRCm39) probably benign Het
Lrp8 A G 4: 107,721,273 (GRCm39) I826M probably benign Het
Mcmbp G A 7: 128,316,209 (GRCm39) Q214* probably null Het
Ndor1 A G 2: 25,140,151 (GRCm39) Y88H probably benign Het
Nkx2-4 A G 2: 146,926,260 (GRCm39) Y201H possibly damaging Het
Or3a1d A G 11: 74,237,486 (GRCm39) L308P probably damaging Het
Or52n4b T A 7: 108,143,933 (GRCm39) L65* probably null Het
Or6c5 A T 10: 129,074,476 (GRCm39) T153S probably benign Het
Pigg T C 5: 108,484,343 (GRCm39) L663P probably damaging Het
Pik3cd A G 4: 149,741,917 (GRCm39) V343A probably damaging Het
Plekha4 A G 7: 45,187,659 (GRCm39) S244G probably damaging Het
Prkce T A 17: 86,932,890 (GRCm39) D623E probably damaging Het
Rasgrf2 A G 13: 92,159,425 (GRCm39) probably benign Het
Rexo5 T C 7: 119,433,499 (GRCm39) W419R probably damaging Het
Rnaseh2b A G 14: 62,602,706 (GRCm39) probably null Het
Rras A G 7: 44,670,709 (GRCm39) Y193C possibly damaging Het
Sall4 T C 2: 168,592,164 (GRCm39) I997V probably damaging Het
Sec31b A G 19: 44,512,122 (GRCm39) F591L probably benign Het
Skic2 A G 17: 35,059,610 (GRCm39) L232P probably benign Het
Slc13a3 A T 2: 165,248,700 (GRCm39) I526N probably damaging Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Snrnp25 A G 11: 32,158,745 (GRCm39) probably benign Het
Tex264 T C 9: 106,539,607 (GRCm39) K201E possibly damaging Het
Tgfb1 G T 7: 25,387,442 (GRCm39) R50L probably damaging Het
Tle4 A G 19: 14,445,625 (GRCm39) V207A probably benign Het
Tmed1 A T 9: 21,421,338 (GRCm39) C45* probably null Het
Tmem260 A G 14: 48,749,415 (GRCm39) N638S probably damaging Het
Traf3ip3 T C 1: 192,867,199 (GRCm39) E274G probably damaging Het
Trak1 T C 9: 121,272,802 (GRCm39) probably null Het
Trim3 A T 7: 105,266,676 (GRCm39) V502E probably damaging Het
Trmo C T 4: 46,377,053 (GRCm39) probably benign Het
Xab2 C T 8: 3,666,332 (GRCm39) R192Q probably benign Het
Other mutations in Mtmr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Mtmr7 APN 8 41,050,465 (GRCm39) missense probably damaging 1.00
IGL01773:Mtmr7 APN 8 41,034,461 (GRCm39) missense probably damaging 1.00
IGL02040:Mtmr7 APN 8 41,013,926 (GRCm39) missense probably benign 0.01
IGL02195:Mtmr7 APN 8 41,013,946 (GRCm39) missense probably damaging 0.96
IGL03394:Mtmr7 APN 8 41,061,972 (GRCm39) missense probably damaging 0.97
BB001:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
BB003:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
BB011:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
BB013:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R0116:Mtmr7 UTSW 8 41,034,447 (GRCm39) splice site probably benign
R0379:Mtmr7 UTSW 8 41,004,642 (GRCm39) missense probably damaging 1.00
R1443:Mtmr7 UTSW 8 41,013,923 (GRCm39) missense probably damaging 1.00
R1763:Mtmr7 UTSW 8 41,004,852 (GRCm39) missense probably benign
R4372:Mtmr7 UTSW 8 41,007,386 (GRCm39) missense probably damaging 1.00
R4482:Mtmr7 UTSW 8 41,007,425 (GRCm39) missense probably benign 0.32
R4502:Mtmr7 UTSW 8 41,011,203 (GRCm39) missense possibly damaging 0.94
R4622:Mtmr7 UTSW 8 41,034,583 (GRCm39) missense probably damaging 1.00
R4833:Mtmr7 UTSW 8 41,043,505 (GRCm39) missense probably damaging 1.00
R4849:Mtmr7 UTSW 8 41,062,040 (GRCm39) missense probably benign 0.00
R4991:Mtmr7 UTSW 8 41,007,386 (GRCm39) missense probably damaging 1.00
R5424:Mtmr7 UTSW 8 41,059,873 (GRCm39) missense probably benign
R5707:Mtmr7 UTSW 8 41,011,203 (GRCm39) missense possibly damaging 0.94
R5929:Mtmr7 UTSW 8 41,011,399 (GRCm39) critical splice acceptor site probably null
R5985:Mtmr7 UTSW 8 41,004,873 (GRCm39) missense probably benign
R6013:Mtmr7 UTSW 8 41,034,570 (GRCm39) missense probably damaging 1.00
R6249:Mtmr7 UTSW 8 41,034,524 (GRCm39) missense probably damaging 1.00
R7052:Mtmr7 UTSW 8 41,008,874 (GRCm39) missense possibly damaging 0.83
R7249:Mtmr7 UTSW 8 41,043,520 (GRCm39) missense probably benign 0.11
R7538:Mtmr7 UTSW 8 41,050,427 (GRCm39) missense probably damaging 1.00
R7698:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R7699:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R7699:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R7700:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R7708:Mtmr7 UTSW 8 41,043,554 (GRCm39) missense probably damaging 0.98
R7890:Mtmr7 UTSW 8 41,004,776 (GRCm39) missense possibly damaging 0.91
R7924:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R7926:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R8059:Mtmr7 UTSW 8 41,034,564 (GRCm39) missense probably damaging 1.00
R8446:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R8493:Mtmr7 UTSW 8 41,059,927 (GRCm39) missense possibly damaging 0.62
R9009:Mtmr7 UTSW 8 41,008,904 (GRCm39) missense possibly damaging 0.92
R9527:Mtmr7 UTSW 8 41,011,345 (GRCm39) missense possibly damaging 0.74
Z1177:Mtmr7 UTSW 8 41,050,422 (GRCm39) missense probably benign 0.01
Posted On 2013-10-07