Incidental Mutation 'IGL00929:Mtmr9'
ID28951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr9
Ensembl Gene ENSMUSG00000035078
Gene Namemyotubularin related protein 9
SynonymsMTMR8, 9430075G12Rik, mMTMH3, LIP-STYX
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.345) question?
Stock #IGL00929
Quality Score
Status
Chromosome14
Chromosomal Location63519651-63543982 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 63543497 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 48 (L48P)
Ref Sequence ENSEMBL: ENSMUSP00000059894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058679]
Predicted Effect probably damaging
Transcript: ENSMUST00000058679
AA Change: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059894
Gene: ENSMUSG00000035078
AA Change: L48P

DomainStartEndE-ValueType
Pfam:Myotub-related 108 446 2.2e-133 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 myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 A T 12: 30,904,900 H67Q probably damaging Het
Ankrd13b A G 11: 77,472,752 S247P probably damaging Het
Aqp4 C T 18: 15,393,599 G275E probably benign Het
Arhgef15 A T 11: 68,954,102 L223Q probably damaging Het
Asb13 A G 13: 3,649,427 Y209C probably damaging Het
Cdk18 A G 1: 132,118,519 probably null Het
Cntnap5a G A 1: 116,060,274 probably null Het
Cops6 A G 5: 138,161,386 M1V probably null Het
Dab2ip A T 2: 35,708,877 M137L possibly damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Lemd1 A G 1: 132,256,709 D73G probably benign Het
Lpin1 G A 12: 16,573,699 S228L probably benign Het
Ncoa3 T A 2: 166,051,609 probably null Het
Ndc1 T A 4: 107,389,497 N372K probably benign Het
Ndufa2 A G 18: 36,744,175 probably benign Het
Nmt1 A T 11: 103,060,076 probably null Het
Olfr593 A T 7: 103,212,685 H264L probably damaging Het
Pcdhgb6 T C 18: 37,743,705 Y489H probably damaging Het
Rttn A T 18: 89,028,935 K907M probably damaging Het
Soga3 C A 10: 29,148,292 N401K probably damaging Het
Sos1 T C 17: 80,408,596 Y979C probably damaging Het
Spag6l C T 16: 16,767,013 A424T possibly damaging Het
Stt3b A T 9: 115,266,165 I266N probably damaging Het
Tet3 A G 6: 83,368,655 L1600P probably benign Het
Tiam1 T A 16: 89,794,739 I1358F probably damaging Het
Usp37 G T 1: 74,490,154 T122N probably benign Het
Vit T C 17: 78,579,401 S153P probably damaging Het
Other mutations in Mtmr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Mtmr9 APN 14 63526805 missense probably damaging 1.00
IGL01999:Mtmr9 APN 14 63542454 missense probably damaging 1.00
IGL02164:Mtmr9 APN 14 63530288 missense probably damaging 0.98
IGL02276:Mtmr9 APN 14 63530276 missense probably damaging 1.00
IGL02868:Mtmr9 APN 14 63524139 missense probably benign 0.41
IGL03347:Mtmr9 APN 14 63543567 missense probably benign 0.03
R0089:Mtmr9 UTSW 14 63528247 missense possibly damaging 0.80
R1231:Mtmr9 UTSW 14 63528191 missense possibly damaging 0.55
R1562:Mtmr9 UTSW 14 63534337 missense probably benign
R1726:Mtmr9 UTSW 14 63537098 missense possibly damaging 0.93
R2016:Mtmr9 UTSW 14 63540264 missense possibly damaging 0.59
R3751:Mtmr9 UTSW 14 63543548 missense probably damaging 1.00
R6092:Mtmr9 UTSW 14 63542452 missense possibly damaging 0.47
R6139:Mtmr9 UTSW 14 63529778 missense probably benign
R6928:Mtmr9 UTSW 14 63543593 missense probably benign 0.03
R7158:Mtmr9 UTSW 14 63526869 missense probably benign
Posted On2013-04-17