Mutagenetix > Incidental Mutations

Incidental Mutation 'R1443:Mtmr7'

158654

Institutional Source

Beutler Lab

Gene Symbol

Mtmr7

Ensembl Gene

ENSMUSG00000039431

Gene Name

myotubularin related protein 7

Synonyms

MMRRC Submission

039498-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40551095-40634797 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40560882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 212 (S212P)

Ref Sequence

ENSEMBL: ENSMUSP00000134281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048890] [ENSMUST00000048898] [ENSMUST00000173487] [ENSMUST00000173957] [ENSMUST00000174205]

AlphaFold

Q9Z2C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048890
AA Change: S376P

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

SMART Domains

Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431
AA Change: S376P

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	108	450	4.9e-145	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000048898
AA Change: S376P

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

SMART Domains

Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: S376P

Domain	Start	End	E-Value	Type
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: S212P

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

SMART Domains

Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431
AA Change: S212P

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	67	260	4e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174205
AA Change: S376P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: S376P

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	108	450	7.2e-145	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,262,798	S56R	probably damaging	Het
Actr8	A	G	14: 29,984,099	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 27,103,066	C703S	possibly damaging	Het
Afap1	G	T	5: 35,968,661	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,264,307	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Aoc1	A	T	6: 48,905,445	K107M	possibly damaging	Het
Bmp8a	G	T	4: 123,316,965	S252R	possibly damaging	Het
C7	T	C	15: 5,059,419	I13M	probably benign	Het
Cblb	T	A	16: 52,139,611	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,932,721	T180I	probably damaging	Het
Clrn2	C	T	5: 45,460,111	A108V	probably damaging	Het
Cspg4	T	A	9: 56,886,512	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,777,971	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,364,069	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,469,020	M544K	probably benign	Het
Doxl2	A	T	6: 48,975,915	Y258F	probably damaging	Het
Ell3	A	T	2: 121,439,465	F388I	probably damaging	Het
Fam208b	T	C	13: 3,575,543	K1469R	probably benign	Het
Fam78b	A	G	1: 167,078,760	I163V	probably damaging	Het
Gnptab	T	C	10: 88,434,081	L882P	probably damaging	Het
Herc2	A	T	7: 56,204,733	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,833,414	E315G	probably benign	Het
Idh3b	A	T	2: 130,284,054		probably null	Het
Lama4	G	A	10: 39,073,643	E911K	probably damaging	Het
Macf1	A	G	4: 123,511,007	I436T	probably damaging	Het
Mgam	C	A	6: 40,759,780	S871*	probably null	Het
Mylk2	A	G	2: 152,919,416	T480A	probably damaging	Het
Myo3a	A	T	2: 22,282,626	N191I	probably damaging	Het
Nanog	C	T	6: 122,711,775	S105F	probably damaging	Het
Nanos2	A	G	7: 18,987,639	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,155,643	V71I	probably benign	Het
Olfr1368	C	T	13: 21,142,167	V297I	probably benign	Het
Olfr1458	G	T	19: 13,103,204	Y33*	probably null	Het
Olfr1512	A	T	14: 52,372,951	I34N	probably damaging	Het
Olfr211	T	C	6: 116,494,425	L272S	probably benign	Het
Olfr643	A	T	7: 104,058,723	I293N	probably damaging	Het
Pcdhb17	A	G	18: 37,486,648	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,925,986	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Phyhip	A	G	14: 70,467,291	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,534,558	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775	D480G	probably benign	Het
Ptprn2	A	T	12: 117,253,615	K918N	probably damaging	Het
Rab42	T	C	4: 132,302,347	D188G	probably benign	Het
Rasgrf2	C	A	13: 91,983,676	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,779,266	T942I	probably benign	Het
Sbpl	T	C	17: 23,953,354	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,684,344	M410T	probably damaging	Het
Sntb1	A	T	15: 55,647,955	L411H	probably damaging	Het
Synj2	A	G	17: 6,023,665	K245E	probably damaging	Het
Tmem131	G	A	1: 36,825,478	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,771,533	S1078T	unknown	Het
Trmu	T	A	15: 85,897,101		probably null	Het
Ttn	A	T	2: 76,891,086		probably benign	Het
Tyw3	T	C	3: 154,587,523	T172A	probably benign	Het
Vldlr	T	C	19: 27,239,721	I348T	possibly damaging	Het
Zfp114	A	G	7: 24,177,769	D12G	probably damaging	Het

Other mutations in Mtmr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02195:Mtmr7	APN	8	40560905	missense	probably damaging	0.96
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
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
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
R8446:Mtmr7	UTSW	8	40606884	missense	possibly damaging	0.62
R8493:Mtmr7	UTSW	8	40606884	missense	possibly damaging	0.62
R9009:Mtmr7	UTSW	8	40555863	missense	possibly damaging	0.92
Z1177:Mtmr7	UTSW	8	40597379	missense	probably benign	0.01

Predicted Primers

Posted On

2014-03-14