Incidental Mutation 'IGL01999:Mtmr9'
ID 182141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr9
Ensembl Gene ENSMUSG00000035078
Gene Name myotubularin related protein 9
Synonyms MTMR8, 9430075G12Rik, LIP-STYX, mMTMH3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # IGL01999
Quality Score
Status
Chromosome 14
Chromosomal Location 63757100-63781402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 63779903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 62 (F62C)
Ref Sequence ENSEMBL: ENSMUSP00000059894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058679]
AlphaFold Q9Z2D0
Predicted Effect probably damaging
Transcript: ENSMUST00000058679
AA Change: F62C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000059894
Gene: ENSMUSG00000035078
AA Change: F62C

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cabs1 C T 5: 88,127,787 (GRCm39) T146I possibly damaging Het
Cfap161 C T 7: 83,440,899 (GRCm39) V118M probably damaging Het
Cfap95 C A 19: 23,569,529 (GRCm39) L130F possibly damaging Het
Chrna7 T C 7: 62,753,539 (GRCm39) M327V probably damaging Het
Ddx18 A G 1: 121,489,457 (GRCm39) I228T probably benign Het
Dnhd1 T A 7: 105,370,422 (GRCm39) S4616T possibly damaging Het
Dsp T A 13: 38,365,162 (GRCm39) M515K probably damaging Het
Dysf C T 6: 84,090,600 (GRCm39) P1002L probably damaging Het
Exoc7 T C 11: 116,191,926 (GRCm39) probably null Het
Gria2 G A 3: 80,639,398 (GRCm39) R205W probably damaging Het
Hacd2 T C 16: 34,869,083 (GRCm39) probably benign Het
Helz G T 11: 107,493,754 (GRCm39) probably benign Het
Hgfac A G 5: 35,202,155 (GRCm39) N352S probably benign Het
Mfsd11 T A 11: 116,752,411 (GRCm39) F135I probably damaging Het
Mtmr10 A G 7: 63,987,460 (GRCm39) N667D probably benign Het
Nelfcd T C 2: 174,265,308 (GRCm39) probably benign Het
Nfasc A G 1: 132,532,985 (GRCm39) probably benign Het
Npnt C T 3: 132,614,160 (GRCm39) R150Q probably damaging Het
Or5b108 G A 19: 13,168,924 (GRCm39) A298T probably damaging Het
Or5p55 C T 7: 107,566,675 (GRCm39) R24C probably benign Het
Or6b13 C T 7: 139,782,345 (GRCm39) E113K probably damaging Het
Pcdhb2 C T 18: 37,429,890 (GRCm39) A621V probably damaging Het
Pkd1l1 C A 11: 8,786,291 (GRCm39) W1921L probably benign Het
Plcb1 G A 2: 135,188,238 (GRCm39) R777Q probably damaging Het
Plch1 G A 3: 63,660,728 (GRCm39) P297L probably damaging Het
Ppp2r2b T C 18: 42,778,788 (GRCm39) probably benign Het
Ppp6r2 A G 15: 89,154,155 (GRCm39) D372G probably benign Het
Rtn4r A G 16: 17,969,321 (GRCm39) R250G possibly damaging Het
Sec61a2 A G 2: 5,896,174 (GRCm39) probably benign Het
Sema3g G T 14: 30,939,922 (GRCm39) V19L probably benign Het
Sult2a7 T C 7: 14,225,648 (GRCm39) T113A probably benign Het
Tcp11l1 T C 2: 104,528,914 (GRCm39) D128G possibly damaging Het
Tln2 C T 9: 67,299,787 (GRCm39) R155Q possibly damaging Het
Vcan A G 13: 89,832,557 (GRCm39) L2150P probably damaging Het
Vmn1r40 A C 6: 89,691,948 (GRCm39) N255T probably benign Het
Vmn2r68 T C 7: 84,871,439 (GRCm39) N615D probably damaging Het
Zdhhc25 A G 15: 88,485,217 (GRCm39) E184G probably damaging Het
Other mutations in Mtmr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Mtmr9 APN 14 63,780,946 (GRCm39) missense probably damaging 1.00
IGL01309:Mtmr9 APN 14 63,764,254 (GRCm39) missense probably damaging 1.00
IGL02164:Mtmr9 APN 14 63,767,737 (GRCm39) missense probably damaging 0.98
IGL02276:Mtmr9 APN 14 63,767,725 (GRCm39) missense probably damaging 1.00
IGL02868:Mtmr9 APN 14 63,761,588 (GRCm39) missense probably benign 0.41
IGL03347:Mtmr9 APN 14 63,781,016 (GRCm39) missense probably benign 0.03
R0089:Mtmr9 UTSW 14 63,765,696 (GRCm39) missense possibly damaging 0.80
R1231:Mtmr9 UTSW 14 63,765,640 (GRCm39) missense possibly damaging 0.55
R1562:Mtmr9 UTSW 14 63,771,786 (GRCm39) missense probably benign
R1726:Mtmr9 UTSW 14 63,774,547 (GRCm39) missense possibly damaging 0.93
R2016:Mtmr9 UTSW 14 63,777,713 (GRCm39) missense possibly damaging 0.59
R3751:Mtmr9 UTSW 14 63,780,997 (GRCm39) missense probably damaging 1.00
R6092:Mtmr9 UTSW 14 63,779,901 (GRCm39) missense possibly damaging 0.47
R6139:Mtmr9 UTSW 14 63,767,227 (GRCm39) missense probably benign
R6928:Mtmr9 UTSW 14 63,781,042 (GRCm39) missense probably benign 0.03
R7158:Mtmr9 UTSW 14 63,764,318 (GRCm39) missense probably benign
R7939:Mtmr9 UTSW 14 63,771,973 (GRCm39) missense probably damaging 1.00
R8859:Mtmr9 UTSW 14 63,781,226 (GRCm39) start gained probably benign
R9037:Mtmr9 UTSW 14 63,761,532 (GRCm39) missense possibly damaging 0.67
R9276:Mtmr9 UTSW 14 63,781,001 (GRCm39) missense probably damaging 1.00
R9547:Mtmr9 UTSW 14 63,779,855 (GRCm39) missense possibly damaging 0.89
Posted On 2014-05-07