Mutagenetix > Incidental Mutation

Incidental Mutation 'R7700:Mtmr7'

593945

Institutional Source

Beutler Lab

Gene Symbol

Mtmr7

Ensembl Gene

ENSMUSG00000039431

Gene Name

myotubularin related protein 7

Synonyms

MMRRC Submission

045761-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41004136-41087840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41059927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 62 (A62V)

Ref Sequence

ENSEMBL: ENSMUSP00000043851 (fasta)

Gene Model

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

AlphaFold

Q9Z2C9

Predicted Effect

probably benign
Transcript: ENSMUST00000048890
AA Change: A62V

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431
AA Change: A62V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048898
AA Change: A62V

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: A62V

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 benign
Transcript: ENSMUST00000173957
AA Change: A21V

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134020
Gene: ENSMUSG00000039431
AA Change: A21V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174205
AA Change: A62V

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431
AA Change: A62V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,417 (GRCm39)	L72P	probably benign	Het
4930407I10Rik	C	A	15: 81,948,306 (GRCm39)	H734Q	probably benign	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Acot4	A	T	12: 84,090,011 (GRCm39)	D236V	probably damaging	Het
App	T	A	16: 84,837,197 (GRCm39)		probably null	Het
Arfgef1	G	A	1: 10,264,636 (GRCm39)	T470I	possibly damaging	Het
Arhgef5	T	C	6: 43,251,691 (GRCm39)	I814T	probably benign	Het
Atr	A	T	9: 95,757,743 (GRCm39)	R968*	probably null	Het
Bltp1	T	A	3: 37,028,321 (GRCm39)	N2329K	possibly damaging	Het
Bltp1	C	T	3: 37,080,303 (GRCm39)	S267L	probably benign	Het
Capn7	C	T	14: 31,074,401 (GRCm39)	T268I	probably benign	Het
Ccdc192	A	G	18: 57,696,388 (GRCm39)		probably null	Het
Ccn1	C	T	3: 145,354,447 (GRCm39)	G155R	probably damaging	Het
Csmd2	G	T	4: 128,439,549 (GRCm39)		probably null	Het
Cubn	A	T	2: 13,352,989 (GRCm39)	F1916L	probably benign	Het
Cubn	A	G	2: 13,494,728 (GRCm39)	V107A	possibly damaging	Het
Cyp11b1	T	A	15: 74,707,691 (GRCm39)	T473S	probably damaging	Het
Dip2c	T	G	13: 9,709,347 (GRCm39)	S1396A	probably benign	Het
Dop1b	T	G	16: 93,595,649 (GRCm39)		probably null	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Echdc2	G	T	4: 108,031,274 (GRCm39)	R206L	probably benign	Het
Ep400	C	T	5: 110,843,898 (GRCm39)	R1594Q	unknown	Het
Esyt1	T	A	10: 128,351,723 (GRCm39)		probably benign	Het
Fmnl2	G	A	2: 52,926,520 (GRCm39)	R69Q		Het
Fry	T	A	5: 150,328,792 (GRCm39)	H1308Q	probably damaging	Het
Fyb2	T	A	4: 104,867,651 (GRCm39)	D667E	probably benign	Het
Gimap7	T	A	6: 48,700,791 (GRCm39)	Y126N	possibly damaging	Het
Gm1979	A	T	5: 26,205,178 (GRCm39)	W266R	probably damaging	Het
Gm28042	T	A	2: 119,870,197 (GRCm39)	M712K	possibly damaging	Het
Gm3238	A	G	10: 77,606,469 (GRCm39)	*231R	probably null	Het
Gm5592	C	A	7: 40,935,831 (GRCm39)	A111E	probably damaging	Het
Gm7694	A	G	1: 170,128,717 (GRCm39)	*271Q	probably null	Het
Gm9195	A	C	14: 72,693,342 (GRCm39)		probably null	Het
Ift81	T	C	5: 122,732,623 (GRCm39)	M304V	possibly damaging	Het
Igfals	T	C	17: 25,099,548 (GRCm39)	L213P	probably damaging	Het
Ints3	G	A	3: 90,329,111 (GRCm39)	P83S	probably benign	Het
Kcna10	T	G	3: 107,102,856 (GRCm39)	S496A	probably damaging	Het
Kmt2d	G	A	15: 98,741,600 (GRCm39)	A4520V	unknown	Het
Lemd3	A	T	10: 120,813,995 (GRCm39)	Y413N	probably damaging	Het
Lgr6	T	C	1: 134,923,770 (GRCm39)	N453S	probably damaging	Het
Lmtk3	A	C	7: 45,441,998 (GRCm39)	D352A	probably damaging	Het
Lrrc4c	T	C	2: 97,461,024 (GRCm39)	M550T	possibly damaging	Het
Maml2	A	T	9: 13,532,385 (GRCm39)	Q533L		Het
Mdn1	T	A	4: 32,741,344 (GRCm39)	D3815E	probably damaging	Het
Megf8	C	T	7: 25,029,353 (GRCm39)	A299V	possibly damaging	Het
Meis3	G	T	7: 15,911,481 (GRCm39)	E59D	probably benign	Het
Mppe1	A	G	18: 67,358,775 (GRCm39)	*398R	probably null	Het
Mtus1	T	A	8: 41,537,006 (GRCm39)	T237S	possibly damaging	Het
Ndfip2	T	A	14: 105,525,193 (GRCm39)	V158E	possibly damaging	Het
Nrbp2	T	G	15: 75,962,746 (GRCm39)	T53P	probably damaging	Het
Nrde2	G	A	12: 100,097,094 (GRCm39)	P902L	probably benign	Het
Or10ab5	T	A	7: 108,244,879 (GRCm39)	K301N	probably damaging	Het
Or11g24	T	A	14: 50,662,792 (GRCm39)	M272K	probably benign	Het
Or2y13	A	G	11: 49,415,381 (GRCm39)	Y277C	probably damaging	Het
Or6c202	T	C	10: 128,995,924 (GRCm39)	M310V	probably benign	Het
Pcdha1	A	G	18: 37,064,115 (GRCm39)	T260A	probably damaging	Het
Pdlim1	T	G	19: 40,238,102 (GRCm39)	K98N	probably damaging	Het
Pdxk	A	T	10: 78,279,764 (GRCm39)		probably null	Het
Phrf1	G	A	7: 140,834,842 (GRCm39)	G207R	unknown	Het
Pik3r6	A	G	11: 68,419,389 (GRCm39)	K124R	probably damaging	Het
Polr2b	T	A	5: 77,488,268 (GRCm39)	F823I	probably benign	Het
Prss58	T	C	6: 40,872,322 (GRCm39)	I234V	probably damaging	Het
Ptpn14	A	T	1: 189,597,608 (GRCm39)	N766I	probably benign	Het
Qrfprl	T	A	6: 65,429,940 (GRCm39)	I212N	probably benign	Het
Repin1	T	A	6: 48,574,756 (GRCm39)	S562T	probably damaging	Het
Rgr	C	T	14: 36,766,552 (GRCm39)	D165N	probably damaging	Het
Rho	T	C	6: 115,912,200 (GRCm39)	F221L	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnase2a	A	G	14: 51,493,248 (GRCm39)	I39T	probably damaging	Het
Rpl13a	T	G	7: 44,776,660 (GRCm39)	I43L	probably benign	Het
Rpp30	T	C	19: 36,066,558 (GRCm39)	V97A	probably benign	Het
Scube3	T	C	17: 28,386,023 (GRCm39)	Y755H	probably damaging	Het
Sec24a	A	T	11: 51,603,084 (GRCm39)	V788E	probably damaging	Het
Spns2	A	T	11: 72,380,443 (GRCm39)	L60*	probably null	Het
Strc	T	C	2: 121,202,229 (GRCm39)	N1213S	possibly damaging	Het
Tec	A	T	5: 72,943,367 (GRCm39)	I116N	possibly damaging	Het
Tll1	A	T	8: 64,546,988 (GRCm39)	D319E	probably benign	Het
Tmem121b	T	C	6: 120,470,388 (GRCm39)	T110A	unknown	Het
Tmem232	T	A	17: 65,572,213 (GRCm39)	I593F	probably damaging	Het
Tpp2	A	G	1: 44,009,626 (GRCm39)	I487V	probably benign	Het
Ubr4	C	A	4: 139,136,178 (GRCm39)	C934*	probably null	Het
Vmn1r68	A	G	7: 10,261,559 (GRCm39)	Y180H	probably benign	Het
Vmn2r25	T	C	6: 123,816,882 (GRCm39)	D233G	possibly damaging	Het
Wdr6	A	G	9: 108,453,560 (GRCm39)	W108R	possibly damaging	Het
Zng1	A	G	19: 24,920,045 (GRCm39)		probably null	Het

Other mutations in Mtmr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Mtmr7	APN	8	41,050,388 (GRCm39)	missense	probably damaging	1.00
IGL01340:Mtmr7	APN	8	41,050,465 (GRCm39)	missense	probably damaging	1.00
IGL01773:Mtmr7	APN	8	41,034,461 (GRCm39)	missense	probably damaging	1.00
IGL02040:Mtmr7	APN	8	41,013,926 (GRCm39)	missense	probably benign	0.01
IGL02195:Mtmr7	APN	8	41,013,946 (GRCm39)	missense	probably damaging	0.96
IGL03394:Mtmr7	APN	8	41,061,972 (GRCm39)	missense	probably damaging	0.97
BB001:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
BB003:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
BB011:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
BB013:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
R0116:Mtmr7	UTSW	8	41,034,447 (GRCm39)	splice site	probably benign
R0379:Mtmr7	UTSW	8	41,004,642 (GRCm39)	missense	probably damaging	1.00
R1443:Mtmr7	UTSW	8	41,013,923 (GRCm39)	missense	probably damaging	1.00
R1763:Mtmr7	UTSW	8	41,004,852 (GRCm39)	missense	probably benign
R4372:Mtmr7	UTSW	8	41,007,386 (GRCm39)	missense	probably damaging	1.00
R4482:Mtmr7	UTSW	8	41,007,425 (GRCm39)	missense	probably benign	0.32
R4502:Mtmr7	UTSW	8	41,011,203 (GRCm39)	missense	possibly damaging	0.94
R4622:Mtmr7	UTSW	8	41,034,583 (GRCm39)	missense	probably damaging	1.00
R4833:Mtmr7	UTSW	8	41,043,505 (GRCm39)	missense	probably damaging	1.00
R4849:Mtmr7	UTSW	8	41,062,040 (GRCm39)	missense	probably benign	0.00
R4991:Mtmr7	UTSW	8	41,007,386 (GRCm39)	missense	probably damaging	1.00
R5424:Mtmr7	UTSW	8	41,059,873 (GRCm39)	missense	probably benign
R5707:Mtmr7	UTSW	8	41,011,203 (GRCm39)	missense	possibly damaging	0.94
R5929:Mtmr7	UTSW	8	41,011,399 (GRCm39)	critical splice acceptor site	probably null
R5985:Mtmr7	UTSW	8	41,004,873 (GRCm39)	missense	probably benign
R6013:Mtmr7	UTSW	8	41,034,570 (GRCm39)	missense	probably damaging	1.00
R6249:Mtmr7	UTSW	8	41,034,524 (GRCm39)	missense	probably damaging	1.00
R7052:Mtmr7	UTSW	8	41,008,874 (GRCm39)	missense	possibly damaging	0.83
R7249:Mtmr7	UTSW	8	41,043,520 (GRCm39)	missense	probably benign	0.11
R7538:Mtmr7	UTSW	8	41,050,427 (GRCm39)	missense	probably damaging	1.00
R7698:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
R7699:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
R7699:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
R7708:Mtmr7	UTSW	8	41,043,554 (GRCm39)	missense	probably damaging	0.98
R7890:Mtmr7	UTSW	8	41,004,776 (GRCm39)	missense	possibly damaging	0.91
R7924:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
R7926:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
R8059:Mtmr7	UTSW	8	41,034,564 (GRCm39)	missense	probably damaging	1.00
R8446:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
R8493:Mtmr7	UTSW	8	41,059,927 (GRCm39)	missense	possibly damaging	0.62
R9009:Mtmr7	UTSW	8	41,008,904 (GRCm39)	missense	possibly damaging	0.92
R9527:Mtmr7	UTSW	8	41,011,345 (GRCm39)	missense	possibly damaging	0.74
Z1177:Mtmr7	UTSW	8	41,050,422 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTGCTATTCCTAAGCATAACAGG -3'
(R):5'- AACCCTCCAGCTCTTGTAAGC -3'

Sequencing Primer
(F):5'- AACCCTGCCACGTGACTTG -3'
(R):5'- CTCCAGCTCTTGTAAGCAGAGTG -3'

Posted On

2019-11-12