Mutagenetix > Incidental Mutation

Incidental Mutation 'R7698:Mtmr7'

593784

Institutional Source

Beutler Lab

Gene Symbol

Mtmr7

Ensembl Gene

ENSMUSG00000039431

Gene Name

myotubularin related protein 7

Synonyms

MMRRC Submission

045759-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7698 (G1)

Quality Score

225.009

Status

Not 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: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	C	A	14: 33,774,570 (GRCm39)	L140F	unknown	Het
Actn1	T	C	12: 80,221,311 (GRCm39)	T581A	probably benign	Het
Ak9	T	C	10: 41,224,072 (GRCm39)	L495S		Het
Aldh5a1	T	C	13: 25,095,731 (GRCm39)	D462G	probably damaging	Het
Amz2	A	G	11: 109,319,833 (GRCm39)	D73G	probably damaging	Het
Ank2	A	G	3: 126,825,860 (GRCm39)	Y361H	probably benign	Het
Atp8b1	A	G	18: 64,704,093 (GRCm39)	Y342H	probably benign	Het
Atp8b5	C	T	4: 43,366,735 (GRCm39)	T833I	probably benign	Het
Camkk2	A	G	5: 122,884,482 (GRCm39)	I313T	probably damaging	Het
Cdk18	T	C	1: 132,050,116 (GRCm39)	T20A	probably damaging	Het
Cenpf	A	T	1: 189,394,269 (GRCm39)	C479S	probably benign	Het
Cfap221	C	A	1: 119,889,659 (GRCm39)	E192*	probably null	Het
Cfap44	C	T	16: 44,254,149 (GRCm39)	H958Y	probably damaging	Het
Cic	A	T	7: 24,972,597 (GRCm39)	Q776L	possibly damaging	Het
Cldn17	C	A	16: 88,303,244 (GRCm39)	G162*	probably null	Het
Col19a1	T	A	1: 24,351,159 (GRCm39)	Y748F	probably benign	Het
Col27a1	C	T	4: 63,143,955 (GRCm39)	P548S	possibly damaging	Het
Cracdl	T	G	1: 37,664,452 (GRCm39)	E482A	probably benign	Het
Ctsr	T	A	13: 61,310,381 (GRCm39)	M92L	probably benign	Het
Cyp2d12	T	C	15: 82,443,171 (GRCm39)	V360A	probably benign	Het
Defa34	G	T	8: 22,156,645 (GRCm39)	C91F	probably damaging	Het
Dennd2c	G	A	3: 103,072,359 (GRCm39)	V815I	possibly damaging	Het
Dlgap4	C	T	2: 156,591,015 (GRCm39)	Q734*	probably null	Het
Dph1	A	T	11: 75,081,267 (GRCm39)	S7T	probably benign	Het
Dpp8	T	C	9: 64,949,618 (GRCm39)	V121A	probably benign	Het
Dst	G	A	1: 34,229,468 (GRCm39)	G2354S	probably benign	Het
Duox2	A	T	2: 122,111,245 (GRCm39)	L1453Q	probably damaging	Het
Ecpas	C	G	4: 58,832,660 (GRCm39)	C900S	unknown	Het
Exosc10	T	A	4: 148,642,955 (GRCm39)	S11T	probably benign	Het
Fetub	A	G	16: 22,758,059 (GRCm39)	T281A	probably benign	Het
Flii	A	T	11: 60,610,918 (GRCm39)	W504R	probably damaging	Het
Gm5093	T	C	17: 46,750,866 (GRCm39)	R54G	possibly damaging	Het
Gmcl1	T	C	6: 86,684,397 (GRCm39)	D375G	probably benign	Het
Hikeshi	A	T	7: 89,572,889 (GRCm39)	N101K	probably benign	Het
Hmcn2	T	C	2: 31,313,165 (GRCm39)	V3458A	probably damaging	Het
Hspa2	A	G	12: 76,452,083 (GRCm39)	N259S	possibly damaging	Het
Irf6	T	C	1: 192,844,075 (GRCm39)	I110T	probably damaging	Het
Kcnj8	T	A	6: 142,511,479 (GRCm39)	H376L	probably damaging	Het
Kdm6b	G	A	11: 69,296,807 (GRCm39)	P487S	probably benign	Het
Lcp1	C	A	14: 75,443,651 (GRCm39)	Y222*	probably null	Het
Manea	T	C	4: 26,327,763 (GRCm39)	D426G	probably damaging	Het
Map3k20	G	T	2: 72,195,025 (GRCm39)	E101*	probably null	Het
Map3k20	C	G	2: 72,268,658 (GRCm39)	S555C	probably benign	Het
Myo6	C	T	9: 80,124,938 (GRCm39)	P6S	unknown	Het
Myoc	A	T	1: 162,467,014 (GRCm39)	Q61L	probably damaging	Het
N4bp2	T	A	5: 65,965,500 (GRCm39)	M1183K	probably benign	Het
Or52e7	T	A	7: 104,685,114 (GRCm39)	H236Q	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,404 (GRCm39)	F26S	probably damaging	Het
Or5b21	T	C	19: 12,840,077 (GRCm39)	S313P	possibly damaging	Het
Or8b40	T	A	9: 38,027,188 (GRCm39)	L37*	probably null	Het
Osbpl11	C	G	16: 33,054,817 (GRCm39)	N633K	probably benign	Het
Pate7	T	C	9: 35,688,472 (GRCm39)	M38V	probably benign	Het
Pcdhgb5	A	G	18: 37,865,684 (GRCm39)	E493G	probably damaging	Het
Phf20	T	A	2: 156,136,058 (GRCm39)	W626R	probably damaging	Het
Pkp2	C	A	16: 16,058,523 (GRCm39)	Q402K	probably benign	Het
Plch2	C	T	4: 155,087,244 (GRCm39)	D336N	possibly damaging	Het
Plk1	T	C	7: 121,768,481 (GRCm39)	F535L	probably damaging	Het
Ppp1r9a	A	T	6: 4,906,430 (GRCm39)	E328D	probably benign	Het
Prss44	G	A	9: 110,646,379 (GRCm39)	V369M	probably benign	Het
Rilp	A	G	11: 75,401,798 (GRCm39)	S193G	probably benign	Het
Rusc2	C	T	4: 43,414,900 (GRCm39)	Q69*	probably null	Het
Ryr2	T	C	13: 11,776,201 (GRCm39)	D1112G	possibly damaging	Het
Smc6	A	G	12: 11,333,141 (GRCm39)	R238G	possibly damaging	Het
Spen	A	G	4: 141,200,156 (GRCm39)	S2824P	probably damaging	Het
Stk4	T	C	2: 163,925,663 (GRCm39)	M77T	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Thsd1	C	T	8: 22,749,003 (GRCm39)	R625*	probably null	Het
Tle3	A	T	9: 61,320,138 (GRCm39)	N522I	probably damaging	Het
Tmcc1	C	A	6: 116,020,763 (GRCm39)	E230*	probably null	Het
Vmn2r90	T	C	17: 17,953,596 (GRCm39)	S587P	probably benign	Het
Wt1	A	T	2: 104,957,161 (GRCm39)	Q7L	probably benign	Het
Zfhx2	T	C	14: 55,300,306 (GRCm39)	I2482V	probably benign	Het
Zfpm2	A	T	15: 40,959,487 (GRCm39)	I189F	probably benign	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
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
R7700: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'- ACACTGCTATTCCTAAGCATAACAG -3'
(R):5'- ACCCTCCAGCTCTTGTAAGC -3'

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

Posted On

2019-11-12