Mutagenetix > Incidental Mutations

Incidental Mutation 'R0379:Mtmr7'

30870

Institutional Source

Beutler Lab

Gene Symbol

Mtmr7

Ensembl Gene

ENSMUSG00000039431

Gene Name

myotubularin related protein 7

Synonyms

MMRRC Submission

038585-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40551095-40634797 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 40551601 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 645 (D645Y)

Ref Sequence

ENSEMBL: ENSMUSP00000043851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048890] [ENSMUST00000048898] [ENSMUST00000098817] [ENSMUST00000173487] [ENSMUST00000174205]

Predicted Effect

probably benign
Transcript: ENSMUST00000048890

SMART Domains

Protein: ENSMUSP00000043367
Gene: ENSMUSG00000039431

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048898
AA Change: D645Y

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

SMART Domains

Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: D645Y

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: ENSMUST00000098817

SMART Domains

Protein: ENSMUSP00000096415
Gene: ENSMUSG00000031600

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
Blast:UBCc	29	128	6e-6	BLAST
low complexity region	155	164	N/A	INTRINSIC
low complexity region	171	189	N/A	INTRINSIC
Pfam:Mod_r	235	380	2.7e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173487

SMART Domains

Protein: ENSMUSP00000134281
Gene: ENSMUSG00000039431

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: ENSMUST00000174205

SMART Domains

Protein: ENSMUSP00000134731
Gene: ENSMUSG00000039431

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

Meta Mutation Damage Score

0.1881

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

98% (79/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,785,546		probably benign	Het
4930512M02Rik	A	G	11: 11,589,365		probably benign	Het
Apba1	A	C	19: 23,934,830	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,860,400		probably null	Het
Arsb	T	C	13: 93,940,627	S501P	probably benign	Het
Atp10b	A	G	11: 43,254,314	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,199,736	I126T	possibly damaging	Het
Brd9	T	C	13: 73,942,683		probably benign	Het
Cd93	T	C	2: 148,441,510		probably benign	Het
Chd5	A	G	4: 152,383,321	K1692R	probably benign	Het
Clcn4	T	C	7: 7,296,792	T13A	probably damaging	Het
Clec14a	A	G	12: 58,268,794	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,718,440	V97A	probably benign	Het
Col24a1	G	A	3: 145,524,142	R1483K	possibly damaging	Het
Crem	A	T	18: 3,299,226	V82D	probably damaging	Het
Ctnna2	T	A	6: 77,641,440	T180S	probably benign	Het
Cybrd1	T	C	2: 71,129,755	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,621,474	V468M	probably damaging	Het
Dlk1	A	G	12: 109,455,059		probably benign	Het
Dnah7b	A	T	1: 46,140,176	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,668,250	E376A	possibly damaging	Het
Etl4	T	A	2: 20,807,354	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106	T238A	probably benign	Het
Fer1l6	A	G	15: 58,548,338	I33M	probably benign	Het
Fndc3a	A	G	14: 72,556,609	S830P	probably damaging	Het
Fras1	C	T	5: 96,755,509	R3082*	probably null	Het
Galnt13	T	C	2: 55,060,492	V395A	possibly damaging	Het
Gm10334	T	G	6: 41,445,256		probably benign	Het
Gpd2	C	T	2: 57,345,263	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,459,002		probably null	Het
Hydin	A	G	8: 110,509,127		probably benign	Het
Ints5	G	T	19: 8,897,133	V819L	possibly damaging	Het
Klhdc10	C	G	6: 30,450,670	Q292E	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,479	A67T	probably benign	Het
Lrp1	T	G	10: 127,594,969	T404P	probably damaging	Het
March7	T	C	2: 60,234,126	S249P	probably benign	Het
Mcm10	T	A	2: 5,008,623	K66M	probably benign	Het
Muc6	T	A	7: 141,636,955	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,369,295		probably benign	Het
Myo18a	G	A	11: 77,850,806	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,443,075	L957S	probably damaging	Het
Ncoa3	T	C	2: 166,054,502	S442P	probably damaging	Het
Olfr1093	G	A	2: 86,785,735	E2K	probably benign	Het
Olfr850	T	A	9: 19,477,480	T257S	possibly damaging	Het
Olfr986	G	A	9: 40,187,433	G106D	probably damaging	Het
Pdcd6	G	T	13: 74,309,712	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 109,027,742		probably benign	Het
Pfkm	A	G	15: 98,126,314	H401R	probably benign	Het
Phldb2	C	A	16: 45,781,451	D754Y	probably damaging	Het
Plekhb2	T	A	1: 34,863,114	M49K	probably damaging	Het
Polrmt	A	G	10: 79,737,611	S1057P	possibly damaging	Het
Prps1l1	A	G	12: 34,985,078	N64S	probably benign	Het
Psg16	T	C	7: 17,130,658	S393P	probably benign	Het
Rundc1	C	T	11: 101,425,147	T15I	probably benign	Het
Scaf11	A	G	15: 96,431,816	L143S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Serpinf1	T	G	11: 75,413,945	I197L	probably benign	Het
Siglec1	C	T	2: 131,074,525		probably benign	Het
Slc28a1	G	A	7: 81,138,177	V271I	probably benign	Het
Sntg1	T	C	1: 8,782,824	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,359,736		probably benign	Het
Suclg1	T	C	6: 73,256,228	I51T	possibly damaging	Het
Syne1	C	T	10: 5,541,989	R9Q	probably damaging	Het
Trim47	T	A	11: 116,106,518	H470L	probably damaging	Het
Ttc41	T	A	10: 86,712,977	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 140,032,192	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,641,116	T474M	probably damaging	Het
Ubr5	A	T	15: 38,018,957	N777K	probably benign	Het
Ush2a	T	C	1: 188,451,819	L1440P	probably damaging	Het
Usp28	A	C	9: 49,024,067	D458A	possibly damaging	Het
Vcan	A	T	13: 89,703,546	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,756,846	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,286,478	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,728,139	I549N	probably damaging	Het
Vps33b	T	A	7: 80,283,414		probably null	Het
Zfp516	A	T	18: 82,987,670	K900*	probably null	Het
Zfp974	T	A	7: 27,910,932	N456I	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
R1443:Mtmr7	UTSW	8	40560882	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
Z1177:Mtmr7	UTSW	8	40597379	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGACACATGCTATGCCAGGAAAGAC -3'
(R):5'- ACCCCTCAGGATTACAGTGGGAAC -3'

Sequencing Primer
(F):5'- GACAACCTTGGGTGAAGATACTCTC -3'
(R):5'- TGGGAACAGCAAGTCCTTC -3'

Posted On

2013-04-24