Incidental Mutation 'IGL02868:Mtmr9'
ID 362389
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 # IGL02868
Quality Score
Status
Chromosome 14
Chromosomal Location 63757100-63781402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63761588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 522 (N522S)
Ref Sequence ENSEMBL: ENSMUSP00000059894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058679]
AlphaFold Q9Z2D0
Predicted Effect probably benign
Transcript: ENSMUST00000058679
AA Change: N522S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000059894
Gene: ENSMUSG00000035078
AA Change: N522S

DomainStartEndE-ValueType
Pfam:Myotub-related 108 446 2.2e-133 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000225449
AA Change: N93S
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap4 A G X: 72,944,008 (GRCm39) I224T probably benign Het
Atp12a A G 14: 56,621,639 (GRCm39) D758G probably damaging Het
Clca3b C A 3: 144,533,325 (GRCm39) G569V probably damaging Het
Dlgap4 G A 2: 156,542,816 (GRCm39) R73Q probably damaging Het
Efcc1 C T 6: 87,728,743 (GRCm39) probably benign Het
Eno3 T A 11: 70,552,826 (GRCm39) V369E probably damaging Het
Espl1 T A 15: 102,222,425 (GRCm39) C1022* probably null Het
Grhl3 T C 4: 135,281,915 (GRCm39) D319G probably damaging Het
Huwe1 G A X: 150,691,829 (GRCm39) R2538H possibly damaging Het
Lrrc37 A T 11: 103,505,965 (GRCm39) L2001H probably benign Het
Ms4a4d T A 19: 11,527,646 (GRCm39) I51N probably damaging Het
Nfe2l1 A G 11: 96,710,966 (GRCm39) I133T probably damaging Het
Ninl A G 2: 150,778,974 (GRCm39) Y1296H probably benign Het
Nipal3 A G 4: 135,194,182 (GRCm39) S284P probably damaging Het
Or4k40 A T 2: 111,250,838 (GRCm39) F153I possibly damaging Het
Or5g9 A T 2: 85,551,919 (GRCm39) T57S probably benign Het
Pramel5 G T 4: 143,997,922 (GRCm39) N440K probably benign Het
Rabep1 T C 11: 70,765,572 (GRCm39) V12A probably benign Het
Rbm5 G T 9: 107,626,899 (GRCm39) probably benign Het
Ric3 T C 7: 108,653,626 (GRCm39) E155G probably damaging Het
Slc12a7 T A 13: 73,954,507 (GRCm39) M897K probably benign Het
Slc39a8 G T 3: 135,561,787 (GRCm39) A169S probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Synrg G A 11: 83,877,876 (GRCm39) probably benign Het
Tas2r107 T C 6: 131,636,249 (GRCm39) T267A probably benign Het
Tead3 G T 17: 28,552,069 (GRCm39) Y354* probably null Het
Trim3 T C 7: 105,262,239 (GRCm39) K579R possibly damaging Het
Uaca A T 9: 60,770,919 (GRCm39) K362M probably damaging Het
Vmn2r94 A G 17: 18,464,316 (GRCm39) I658T possibly damaging Het
Vps13b C T 15: 35,884,665 (GRCm39) P3113S probably benign Het
Zfp251 A G 15: 76,738,734 (GRCm39) S115P probably damaging Het
Zfp683 G A 4: 133,783,177 (GRCm39) V214M probably benign 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
IGL01999:Mtmr9 APN 14 63,779,903 (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
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 2015-12-18