Incidental Mutation 'IGL02195:Mtmr7'
ID284034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr7
Ensembl Gene ENSMUSG00000039431
Gene Namemyotubularin related protein 7
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02195
Quality Score
Status
Chromosome8
Chromosomal Location40551095-40634797 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40560905 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 204 (V204A)
Ref Sequence ENSEMBL: ENSMUSP00000134281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048890] [ENSMUST00000048898] [ENSMUST00000173487] [ENSMUST00000173957] [ENSMUST00000174205]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048890
AA Change: V368A

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431
AA Change: V368A

DomainStartEndE-ValueType
Pfam:Myotub-related 108 450 4.9e-145 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000048898
AA Change: V368A

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: V368A

DomainStartEndE-ValueType
Pfam:Myotub-related 109 448 1.6e-143 PFAM
coiled coil region 514 553 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173487
AA Change: V204A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
AA Change: V204A

DomainStartEndE-ValueType
Pfam:Myotub-related 1 286 8.1e-125 PFAM
coiled coil region 350 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173957
SMART Domains Protein: ENSMUSP00000134020
Gene: ENSMUSG00000039431

DomainStartEndE-ValueType
Pfam:Myotub-related 67 260 4e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174205
AA Change: V368A

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: V368A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik T C 5: 118,259,397 L148P probably damaging Het
Anpep G T 7: 79,826,685 A65D probably damaging Het
Birc6 C T 17: 74,697,381 probably benign Het
Car11 G T 7: 45,701,292 V71L probably damaging Het
Cecr2 A G 6: 120,731,406 Y123C probably damaging Het
Dnm2 G A 9: 21,425,249 V52M probably damaging Het
Fbxo21 T A 5: 118,002,154 C560S probably damaging Het
Gatb A T 3: 85,604,448 Y170F probably benign Het
Ighv1-54 A T 12: 115,193,950 S26T possibly damaging Het
Ints8 A T 4: 11,221,222 W718R probably damaging Het
Iqgap2 T A 13: 95,661,734 probably benign Het
Kif4 T C X: 100,726,216 F1154S probably damaging Het
Klhl18 A G 9: 110,438,902 C253R possibly damaging Het
Lilra6 T C 7: 3,914,550 S149G probably benign Het
Lonrf1 G A 8: 36,219,948 R745* probably null Het
Manea A C 4: 26,340,628 Y111* probably null Het
Map2k1 A G 9: 64,193,808 I196T probably benign Het
Matn4 T C 2: 164,401,052 D42G probably damaging Het
Meioc C A 11: 102,674,857 T433K possibly damaging Het
Nus1 A G 10: 52,433,369 D91G probably damaging Het
Olfr160 A G 9: 37,712,121 S53P probably benign Het
Pisd A G 5: 32,737,315 L549P probably damaging Het
Plcg1 T C 2: 160,753,926 Y572H possibly damaging Het
Prdm15 A G 16: 97,835,829 V96A probably damaging Het
Prune2 C A 19: 17,119,557 D808E probably benign Het
Sema5b G A 16: 35,660,479 probably null Het
Shank3 A T 15: 89,548,118 Q947L probably damaging Het
Sned1 A G 1: 93,274,160 E616G probably benign Het
Snx18 T C 13: 113,616,840 H519R probably damaging Het
Syde2 A G 3: 146,002,156 T617A probably damaging Het
Tmem139 G T 6: 42,263,967 R162L probably damaging Het
Trim72 A T 7: 128,007,964 M222L probably damaging Het
Other mutations in Mtmr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Mtmr7 APN 8 40597345 missense probably damaging 1.00
IGL01340:Mtmr7 APN 8 40597422 missense probably damaging 1.00
IGL01773:Mtmr7 APN 8 40581419 missense probably damaging 1.00
IGL02040:Mtmr7 APN 8 40560885 missense probably benign 0.01
IGL03394:Mtmr7 APN 8 40608929 missense probably damaging 0.97
BB001:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
BB003:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
BB011:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
BB013:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
R0116:Mtmr7 UTSW 8 40581405 splice site probably benign
R0379:Mtmr7 UTSW 8 40551601 missense probably damaging 1.00
R1443:Mtmr7 UTSW 8 40560882 missense probably damaging 1.00
R1763:Mtmr7 UTSW 8 40551811 missense probably benign
R4372:Mtmr7 UTSW 8 40554345 missense probably damaging 1.00
R4482:Mtmr7 UTSW 8 40554384 missense probably benign 0.32
R4502:Mtmr7 UTSW 8 40558162 missense possibly damaging 0.94
R4622:Mtmr7 UTSW 8 40581541 missense probably damaging 1.00
R4833:Mtmr7 UTSW 8 40590462 missense probably damaging 1.00
R4849:Mtmr7 UTSW 8 40608997 missense probably benign 0.00
R4991:Mtmr7 UTSW 8 40554345 missense probably damaging 1.00
R5424:Mtmr7 UTSW 8 40606830 missense probably benign
R5707:Mtmr7 UTSW 8 40558162 missense possibly damaging 0.94
R5929:Mtmr7 UTSW 8 40558358 critical splice acceptor site probably null
R5985:Mtmr7 UTSW 8 40551832 missense probably benign
R6013:Mtmr7 UTSW 8 40581528 missense probably damaging 1.00
R6249:Mtmr7 UTSW 8 40581482 missense probably damaging 1.00
R7052:Mtmr7 UTSW 8 40555833 missense possibly damaging 0.83
R7249:Mtmr7 UTSW 8 40590477 missense probably benign 0.11
R7538:Mtmr7 UTSW 8 40597384 missense probably damaging 1.00
R7698:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
R7699:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
R7700:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
R7708:Mtmr7 UTSW 8 40590511 missense probably damaging 0.98
R7890:Mtmr7 UTSW 8 40551735 missense possibly damaging 0.91
R7924:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
R7926:Mtmr7 UTSW 8 40606884 missense possibly damaging 0.62
R8059:Mtmr7 UTSW 8 40581522 missense probably damaging 1.00
Z1177:Mtmr7 UTSW 8 40597379 missense probably benign 0.01
Posted On2015-04-16