Incidental Mutation 'IGL01309:Mtmr9'
ID73596
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: 0.344) question?
Stock #IGL01309
Quality Score
Status
Chromosome14
Chromosomal Location63519651-63543982 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 63526805 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 491 (L491P)
Ref Sequence ENSEMBL: ENSMUSP00000059894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058679]
Predicted Effect probably damaging
Transcript: ENSMUST00000058679
AA Change: L491P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059894
Gene: ENSMUSG00000035078
AA Change: L491P

DomainStartEndE-ValueType
Pfam:Myotub-related 108 446 2.2e-133 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000225449
AA Change: L62P
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 17,113,546 V275A possibly damaging Het
Adamts2 A G 11: 50,803,701 D1105G probably benign Het
Adgrb3 T A 1: 25,112,271 M195L possibly damaging Het
Adrm1 A G 2: 180,175,963 probably benign Het
Atg13 T A 2: 91,678,831 I457F possibly damaging Het
BC034090 T C 1: 155,226,384 N45D probably damaging Het
C3 C T 17: 57,209,652 probably benign Het
Cacna1a G A 8: 84,523,028 G221D probably damaging Het
Calr A G 8: 84,846,706 probably null Het
Chd3 C T 11: 69,357,731 V825I probably damaging Het
Chdh T G 14: 30,035,804 probably benign Het
Ckap5 T C 2: 91,570,184 V627A probably damaging Het
Commd3 A G 2: 18,672,478 E5G probably benign Het
Ddi1 T C 9: 6,265,773 R199G probably damaging Het
Dennd4c A G 4: 86,805,487 probably benign Het
Dok7 G A 5: 35,079,568 G293D possibly damaging Het
Epm2aip1 T C 9: 111,273,528 V523A probably benign Het
Fam171b C T 2: 83,879,447 Q488* probably null Het
Gabbr1 G A 17: 37,048,607 probably null Het
Gm5965 T G 16: 88,778,331 S131A possibly damaging Het
Gpcpd1 T C 2: 132,550,324 D235G probably damaging Het
Grip1 A T 10: 119,931,302 K111* probably null Het
Itih4 G T 14: 30,891,749 D308Y probably damaging Het
Kcnj6 A G 16: 94,832,455 Y266H probably damaging Het
Lrrc41 T C 4: 116,096,466 L783P probably damaging Het
Map4k5 T C 12: 69,841,963 D298G probably benign Het
Mapkbp1 T C 2: 120,018,942 F712L probably damaging Het
Mcoln2 T C 3: 146,163,527 probably benign Het
Megf11 T A 9: 64,681,416 S532R probably benign Het
Mkx T C 18: 6,937,192 D284G probably benign Het
Mmp16 A G 4: 18,116,185 I596M probably damaging Het
Msto1 C A 3: 88,913,686 R34L probably benign Het
Olfr1196 T G 2: 88,700,966 Y121S probably damaging Het
Olfr12 T C 1: 92,620,335 M143T probably damaging Het
Olfr917 T A 9: 38,664,993 I284L probably benign Het
Otor T C 2: 143,078,612 V38A possibly damaging Het
Pcdhb12 G T 18: 37,436,154 D118Y probably damaging Het
Prelp T C 1: 133,914,807 H200R probably benign Het
Prmt5 T C 14: 54,509,877 Y481C probably damaging Het
Psg23 T G 7: 18,614,540 D114A probably damaging Het
Ptger4 A T 15: 5,242,758 Y127N probably damaging Het
Rabgap1l C A 1: 160,700,798 V385L probably benign Het
Rergl T A 6: 139,493,258 K191* probably null Het
Sart3 A G 5: 113,759,250 F252S probably damaging Het
Sbno1 A T 5: 124,381,706 S1169T probably benign Het
Serpinb8 C T 1: 107,604,718 T180M probably damaging Het
Sipa1l1 G A 12: 82,387,696 E747K probably benign Het
Sptb T A 12: 76,587,463 D2158V probably benign Het
Sycp2 T G 2: 178,358,111 D1024A probably benign Het
Tbr1 T G 2: 61,806,067 N262K possibly damaging Het
Tnrc6a A T 7: 123,171,494 I836F probably benign Het
Ttn T C 2: 76,938,747 E2823G probably damaging Het
Uqcrc1 T A 9: 108,948,958 L441Q possibly damaging Het
Vmn1r180 T C 7: 23,952,999 F196L probably damaging Het
Vmn2r111 T C 17: 22,569,016 I451M possibly damaging Het
Zcchc7 A T 4: 44,926,060 H353L probably damaging Het
Other mutations in Mtmr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Mtmr9 APN 14 63543497 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 On2013-10-07