Mutagenetix > Incidental Mutation

Incidental Mutation 'R2853:Mtm1'

252443

Institutional Source

Beutler Lab

Gene Symbol

Mtm1

Ensembl Gene

ENSMUSG00000031337

Gene Name

X-linked myotubular myopathy gene 1

Synonyms

MMRRC Submission

040446-MU

Accession Numbers

Essential gene?

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

Stock #

R2853 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

70254373-70359019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 70345389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 437 (I437S)

Ref Sequence

ENSEMBL: ENSMUSP00000125798 (fasta)

Gene Model

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

AlphaFold

Q9Z2C5

Predicted Effect

probably benign
Transcript: ENSMUST00000025391

SMART Domains

Protein: ENSMUSP00000025391
Gene: ENSMUSG00000031337

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: I437S

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

SMART Domains

Protein: ENSMUSP00000033700
Gene: ENSMUSG00000031337
AA Change: I437S

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: I437S

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

SMART Domains

Protein: ENSMUSP00000057182
Gene: ENSMUSG00000031337
AA Change: I437S

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: I437S

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

SMART Domains

Protein: ENSMUSP00000110264
Gene: ENSMUSG00000031337
AA Change: I437S

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 benign
Transcript: ENSMUST00000114621

SMART Domains

Protein: ENSMUSP00000110268
Gene: ENSMUSG00000031337

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: I437S

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

SMART Domains

Protein: ENSMUSP00000125798
Gene: ENSMUSG00000031337
AA Change: I437S

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	C	16: 8,418,832 (GRCm39)	K142T	probably damaging	Het
Als2cl	T	C	9: 110,723,203 (GRCm39)	S636P	probably damaging	Het
Angptl7	T	C	4: 148,584,736 (GRCm39)	E4G	probably benign	Het
Aph1c	T	C	9: 66,741,764 (GRCm39)		probably null	Het
Arhgap23	T	C	11: 97,383,420 (GRCm39)		probably null	Het
Arhgef4	A	C	1: 34,763,129 (GRCm39)	D795A	unknown	Het
Atosb	A	G	4: 43,036,293 (GRCm39)	L146P	probably benign	Het
Ccdc85a	A	G	11: 28,342,942 (GRCm39)		probably benign	Het
Chchd1	T	C	14: 20,754,288 (GRCm39)	S67P	probably benign	Het
Cubn	C	T	2: 13,435,645 (GRCm39)	V1104I	probably benign	Het
Dennd5a	A	T	7: 109,532,878 (GRCm39)	N297K	probably damaging	Het
Dnai4	T	C	4: 102,907,355 (GRCm39)	I644V	possibly damaging	Het
Egflam	A	T	15: 7,249,182 (GRCm39)	W879R	probably damaging	Het
Far1	T	C	7: 113,152,944 (GRCm39)	Y351H	possibly damaging	Het
Gpr62	T	C	9: 106,341,911 (GRCm39)	E339G	probably benign	Het
Hspd1	A	T	1: 55,120,256 (GRCm39)	D315E	probably damaging	Het
Ids	G	T	X: 69,396,776 (GRCm39)	T329K	probably damaging	Het
Itga9	G	A	9: 118,465,604 (GRCm39)	E153K	probably damaging	Het
Krt82	T	C	15: 101,456,870 (GRCm39)	Y170C	probably damaging	Het
Megf10	T	C	18: 57,427,003 (GRCm39)	I1107T	probably damaging	Het
Mre11a	A	G	9: 14,737,843 (GRCm39)	E599G	probably benign	Het
Ncoa2	C	T	1: 13,257,113 (GRCm39)	V129I	probably damaging	Het
Ncs1	T	C	2: 31,177,329 (GRCm39)	F169L	probably damaging	Het
Ndst2	T	C	14: 20,779,964 (GRCm39)	E92G	probably damaging	Het
Parm1	T	C	5: 91,742,124 (GRCm39)	V164A	probably benign	Het
Pkhd1	T	C	1: 20,128,526 (GRCm39)	Q4059R	probably benign	Het
Scgb1b20	A	C	7: 33,072,949 (GRCm39)	K52N	possibly damaging	Het
Setbp1	T	A	18: 78,967,211 (GRCm39)	Q171L	probably benign	Het
Sik2	A	T	9: 50,809,597 (GRCm39)	L612Q	probably damaging	Het
Srprb	G	A	9: 103,076,038 (GRCm39)	Q800*	probably null	Het
Ss18l1	A	G	2: 179,699,914 (GRCm39)	Y258C	probably damaging	Het
Togaram1	A	G	12: 65,063,386 (GRCm39)	K1567R	probably benign	Het
Ttc6	T	C	12: 57,622,967 (GRCm39)	F122S	probably damaging	Het
Vmn2r85	T	A	10: 130,255,035 (GRCm39)	M550L	probably benign	Het

Other mutations in Mtm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02503:Mtm1	APN	X	70,343,276 (GRCm39)	missense	probably damaging	1.00
R1345:Mtm1	UTSW	X	70,330,837 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- TTCATAATTTACTGTCTGAGCTTGG -3'
(R):5'- ACATCCATAGCAGTCGTAACTAAAG -3'

Sequencing Primer
(F):5'- CTGAGCTTGGTATTTAGAAGGCAG -3'
(R):5'- CCACTGCTGGGATTCGATGAG -3'

Posted On

2014-12-04