Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02503:Mtm1'

296157

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtm1

Ensembl Gene

ENSMUSG00000031337

Gene Name

X-linked myotubular myopathy gene 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

IGL02503

Quality Score

Status

Chromosome

Chromosomal Location

70254373-70359019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70343276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 386 (T386A)

Ref Sequence

ENSEMBL: ENSMUSP00000125798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025391] [ENSMUST00000033700] [ENSMUST00000061970] [ENSMUST00000114617] [ENSMUST00000114621] [ENSMUST00000171933]

AlphaFold

Q9Z2C5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025391
AA Change: T386A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025391
Gene: ENSMUSG00000031337
AA Change: T386A

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000033700
AA Change: T386A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033700
Gene: ENSMUSG00000031337
AA Change: T386A

Domain	Start	End	E-Value	Type
GRAM	29	97	1.34e-14	SMART
Pfam:Myotub-related	148	489	9.4e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000061970
AA Change: T386A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057182
Gene: ENSMUSG00000031337
AA Change: T386A

Domain	Start	End	E-Value	Type
GRAM	29	97	1.34e-14	SMART
Pfam:Myotub-related	148	489	9.4e-150	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114617
AA Change: T386A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110264
Gene: ENSMUSG00000031337
AA Change: T386A

Domain	Start	End	E-Value	Type
GRAM	29	97	1.34e-14	SMART
Pfam:Myotub-related	148	489	9.4e-150	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114621
AA Change: T386A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110268
Gene: ENSMUSG00000031337
AA Change: T386A

Domain	Start	End	E-Value	Type
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: ENSMUST00000129722

Predicted Effect

probably damaging
Transcript: ENSMUST00000171933
AA Change: T386A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125798
Gene: ENSMUSG00000031337
AA Change: T386A

Domain	Start	End	E-Value	Type
GRAM	29	97	1.34e-14	SMART
Pfam:Myotub-related	150	488	6.4e-146	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134859

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 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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	T	14: 56,008,962 (GRCm39)	W822R	probably damaging	Het
Ago4	A	T	4: 126,390,598 (GRCm39)	Y807*	probably null	Het
Alkbh8	G	A	9: 3,347,852 (GRCm39)	G215D	probably damaging	Het
Cfap57	C	T	4: 118,426,545 (GRCm39)		probably null	Het
Cspg4	G	A	9: 56,804,687 (GRCm39)	V1833M	probably damaging	Het
Cyp4f17	T	C	17: 32,743,940 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,909,621 (GRCm39)	Y1411*	probably null	Het
Dmrtc1b	T	A	X: 101,758,366 (GRCm39)	S199T	possibly damaging	Het
Elk4	A	G	1: 131,942,277 (GRCm39)	N50D	probably damaging	Het
Filip1l	T	A	16: 57,391,938 (GRCm39)	V604E	probably benign	Het
Fmo3	A	T	1: 162,796,433 (GRCm39)	H46Q	probably benign	Het
Fndc1	T	A	17: 7,990,348 (GRCm39)	Y1116F	unknown	Het
Fpr-rs3	T	A	17: 20,844,817 (GRCm39)	N108I	probably damaging	Het
Glmn	A	T	5: 107,710,644 (GRCm39)	M316K	probably damaging	Het
Gm5591	C	A	7: 38,219,433 (GRCm39)	R480I	probably damaging	Het
Gm8122	G	T	14: 43,092,645 (GRCm39)	R39S	unknown	Het
Gprasp1	T	A	X: 134,703,279 (GRCm39)	Y1157*	probably null	Het
H2bc21	A	G	3: 96,128,539 (GRCm39)	T20A	probably benign	Het
Hsf1	T	C	15: 76,382,870 (GRCm39)	L370P	probably benign	Het
Iqsec1	T	A	6: 90,645,770 (GRCm39)	I809F	probably damaging	Het
Itsn1	G	T	16: 91,686,092 (GRCm39)	M54I	possibly damaging	Het
Klra2	T	C	6: 131,207,057 (GRCm39)	N184S	probably benign	Het
Lifr	T	A	15: 7,215,104 (GRCm39)	V737E	probably damaging	Het
Lrpprc	T	C	17: 85,033,767 (GRCm39)	T1037A	probably benign	Het
Map3k13	A	T	16: 21,727,454 (GRCm39)	I439F	possibly damaging	Het
Megf8	T	C	7: 25,062,988 (GRCm39)	V2448A	possibly damaging	Het
Mthfd1l	T	A	10: 4,033,824 (GRCm39)	V737D	probably damaging	Het
Muc5b	T	C	7: 141,421,404 (GRCm39)	V4298A	probably benign	Het
Or10ag2	T	G	2: 87,248,636 (GRCm39)	F81L	probably benign	Het
Or5w18	A	T	2: 87,632,864 (GRCm39)	I44F	probably benign	Het
Or8k21	C	T	2: 86,144,983 (GRCm39)	G216R	possibly damaging	Het
Plch1	A	G	3: 63,605,285 (GRCm39)	S1531P	probably damaging	Het
Poc1b	T	A	10: 98,980,210 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,815,924 (GRCm39)	N1065K	probably benign	Het
Rpsa	A	G	9: 119,957,659 (GRCm39)	E35G	possibly damaging	Het
Scfd1	T	A	12: 51,469,704 (GRCm39)	D416E	possibly damaging	Het
Sdad1	A	T	5: 92,449,661 (GRCm39)		probably benign	Het
Skor1	A	G	9: 63,053,397 (GRCm39)	S191P	probably damaging	Het
Slc28a2	T	C	2: 122,288,693 (GRCm39)	F600L	probably benign	Het
Tmem229b-ps	A	G	10: 53,351,250 (GRCm39)		noncoding transcript	Het
Top2b	A	G	14: 16,407,163 (GRCm38)	M678V	possibly damaging	Het
Ttn	T	C	2: 76,617,107 (GRCm39)	N8092S	probably damaging	Het
Ttn	C	T	2: 76,572,033 (GRCm39)	V26287I	probably damaging	Het
Tulp4	T	A	17: 6,263,666 (GRCm39)	I345N	probably damaging	Het
U2surp	C	T	9: 95,384,622 (GRCm39)	V21I	probably benign	Het
Ubr5	T	C	15: 38,018,564 (GRCm39)	T859A	possibly damaging	Het
Ubr5	T	C	15: 38,018,558 (GRCm39)	K861E	probably damaging	Het
Unc13d	A	G	11: 115,959,628 (GRCm39)	V617A	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,341 (GRCm39)	Y91C	probably damaging	Het
Vmn2r120	T	A	17: 57,816,385 (GRCm39)	I657F	probably benign	Het
Wwc2	T	C	8: 48,302,418 (GRCm39)	R931G	unknown	Het

Other mutations in Mtm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1345:Mtm1	UTSW	X	70,330,837 (GRCm39)	missense	probably benign	0.00
R2853:Mtm1	UTSW	X	70,345,389 (GRCm39)	missense	probably damaging	1.00
R2870:Mtm1	UTSW	X	70,339,968 (GRCm39)	splice site	probably benign
R2871:Mtm1	UTSW	X	70,339,968 (GRCm39)	splice site	probably benign
X0003:Mtm1	UTSW	X	70,303,434 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16