Incidental Mutation 'R1345:Mtm1'
ID156488
Institutional Source Beutler Lab
Gene Symbol Mtm1
Ensembl Gene ENSMUSG00000031337
Gene NameX-linked myotubular myopathy gene 1
Synonyms
MMRRC Submission 039410-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.181) question?
Stock #R1345 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location71210767-71315691 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 71287231 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 203 (V203A)
Ref Sequence ENSEMBL: ENSMUSP00000125798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025391] [ENSMUST00000033700] [ENSMUST00000061970] [ENSMUST00000114617] [ENSMUST00000114621] [ENSMUST00000171933]
Predicted Effect probably benign
Transcript: ENSMUST00000025391
AA Change: V203A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025391
Gene: ENSMUSG00000031337
AA Change: V203A

DomainStartEndE-ValueType
GRAM 29 97 1.34e-14 SMART
Pfam:Myotub-related 149 420 6.3e-114 PFAM
Pfam:Myotub-related 419 458 6.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000033700
AA Change: V203A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000033700
Gene: ENSMUSG00000031337
AA Change: V203A

DomainStartEndE-ValueType
GRAM 29 97 1.34e-14 SMART
Pfam:Myotub-related 148 489 9.4e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061970
AA Change: V203A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000057182
Gene: ENSMUSG00000031337
AA Change: V203A

DomainStartEndE-ValueType
GRAM 29 97 1.34e-14 SMART
Pfam:Myotub-related 148 489 9.4e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114617
AA Change: V203A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000110264
Gene: ENSMUSG00000031337
AA Change: V203A

DomainStartEndE-ValueType
GRAM 29 97 1.34e-14 SMART
Pfam:Myotub-related 148 489 9.4e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114621
AA Change: V203A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000110268
Gene: ENSMUSG00000031337
AA Change: V203A

DomainStartEndE-ValueType
GRAM 29 97 1.34e-14 SMART
Pfam:Myotub-related 149 420 6.3e-114 PFAM
Pfam:Myotub-related 419 458 6.8e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156452
Predicted Effect probably benign
Transcript: ENSMUST00000171933
AA Change: V203A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000125798
Gene: ENSMUSG00000031337
AA Change: V203A

DomainStartEndE-ValueType
GRAM 29 97 1.34e-14 SMART
Pfam:Myotub-related 150 488 6.4e-146 PFAM
Meta Mutation Damage Score 0.1432 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 92.3%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Hemizygotes for targeted null mutations develop a generalized, progressive myopathy beginning around 1 month and leading to death at 6-14 weeks of age. Mutant mice show amyotrophy with accumulation of central nuclei in skeletal muscle fibers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,668,718 V129I probably damaging Het
Akr1c18 T C 13: 4,145,214 T82A possibly damaging Het
Alx1 A G 10: 103,028,492 S39P possibly damaging Het
Atr A G 9: 95,920,355 T1767A probably benign Het
Brf1 A T 12: 112,961,108 probably null Het
Cd86 A G 16: 36,618,324 probably null Het
Cdan1 A G 2: 120,719,139 probably null Het
Cntln A G 4: 84,973,991 D371G probably damaging Het
Cypt4 A G 9: 24,625,219 T2A possibly damaging Het
Dll1 G T 17: 15,373,555 Y183* probably null Het
Dnmt1 G T 9: 20,908,518 P1444Q probably damaging Het
Ern2 A G 7: 122,177,770 L309P probably damaging Het
Fam151a A G 4: 106,742,294 K142E probably damaging Het
Fbn1 T C 2: 125,314,671 E2378G probably damaging Het
Gm9573 T A 17: 35,621,597 probably benign Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Kdm5b A C 1: 134,630,550 T1432P possibly damaging Het
Kif2a G A 13: 106,993,915 S15F probably damaging Het
Lzic A G 4: 149,486,851 E31G probably damaging Het
Mmp16 A G 4: 18,112,021 M466V probably benign Het
Neurl4 A G 11: 69,903,876 M249V probably benign Het
Olfr813 T C 10: 129,856,890 I124T probably damaging Het
Plxna2 T C 1: 194,644,486 Y243H probably damaging Het
Rbm44 A G 1: 91,152,759 N223S probably damaging Het
Sel1l3 G T 5: 53,200,217 H144Q possibly damaging Het
Simc1 A ANNNNNNNNNNNNNNNNNNNNN 13: 54,525,247 probably benign Het
Snrpb2 A G 2: 143,065,166 probably benign Het
Spata31d1d T G 13: 59,726,024 K1232N possibly damaging Het
Spink5 A T 18: 43,990,682 E345D possibly damaging Het
Sucla2 C T 14: 73,560,634 probably benign Het
Tarbp1 T C 8: 126,448,330 D789G probably benign Het
Tedc2 T A 17: 24,216,317 E366V probably damaging Het
Tedc2 C A 17: 24,216,318 E366* probably null Het
Tmem232 T C 17: 65,450,406 N264S possibly damaging Het
Trim43b G C 9: 89,085,672 L303V possibly damaging Het
Tulp2 C A 7: 45,518,721 R298S probably benign Het
Usp42 A G 5: 143,717,333 V511A probably damaging Het
Vav1 A T 17: 57,301,214 T321S probably benign Het
Vmn1r169 A C 7: 23,577,822 H213P probably damaging Het
Vmn1r170 C T 7: 23,606,362 T63I probably benign Het
Vmn2r103 T G 17: 19,794,247 W434G probably damaging Het
Zfp407 C T 18: 84,559,773 A1072T probably benign Het
Zfp7 T C 15: 76,890,708 S317P probably damaging Het
Other mutations in Mtm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02503:Mtm1 APN X 71299670 missense probably damaging 1.00
R2853:Mtm1 UTSW X 71301783 missense probably damaging 1.00
R2870:Mtm1 UTSW X 71296362 splice site probably benign
R2871:Mtm1 UTSW X 71296362 splice site probably benign
X0003:Mtm1 UTSW X 71259828 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGCTGCCAATCACTCTGGTCAAAG -3'
(R):5'- GGCTGTGACCTCTCACTGATGTTC -3'

Sequencing Primer
(F):5'- GCTTTCTTTTATCCTGCAGGGC -3'
(R):5'- ATGCTACATTTGCAGTAGGTCC -3'
Posted On2014-02-11