Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41004136-41087840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41004642 bp (GRCm39)

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]

AlphaFold

Q9Z2C9

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
4930512M02Rik	A	G	11: 11,539,365 (GRCm39)		probably benign	Het
Apba1	A	C	19: 23,912,194 (GRCm39)	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,702,320 (GRCm39)		probably null	Het
Arsb	T	C	13: 94,077,135 (GRCm39)	S501P	probably benign	Het
Atp10b	A	G	11: 43,145,141 (GRCm39)	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898 (GRCm39)	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,789 (GRCm39)	I126T	possibly damaging	Het
Brd9	T	C	13: 74,090,802 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,430 (GRCm39)		probably benign	Het
Chd5	A	G	4: 152,467,778 (GRCm39)	K1692R	probably benign	Het
Clcn4	T	C	7: 7,299,791 (GRCm39)	T13A	probably damaging	Het
Clec14a	A	G	12: 58,315,580 (GRCm39)	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,768,440 (GRCm39)	V97A	probably benign	Het
Col24a1	G	A	3: 145,229,897 (GRCm39)	R1483K	possibly damaging	Het
Crem	A	T	18: 3,299,226 (GRCm39)	V82D	probably damaging	Het
Ctnna2	T	A	6: 77,618,423 (GRCm39)	T180S	probably benign	Het
Cybrd1	T	C	2: 70,960,099 (GRCm39)	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,478,671 (GRCm39)	V468M	probably damaging	Het
Dlk1	A	G	12: 109,420,985 (GRCm39)		probably benign	Het
Dnaaf9	C	T	2: 130,627,466 (GRCm39)		probably benign	Het
Dnah7b	A	T	1: 46,179,336 (GRCm39)	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,722,399 (GRCm39)	E376A	possibly damaging	Het
Etl4	T	A	2: 20,812,165 (GRCm39)	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106 (GRCm39)	T238A	probably benign	Het
Fer1l6	A	G	15: 58,420,187 (GRCm39)	I33M	probably benign	Het
Fndc3a	A	G	14: 72,794,049 (GRCm39)	S830P	probably damaging	Het
Fras1	C	T	5: 96,903,368 (GRCm39)	R3082*	probably null	Het
Galnt13	T	C	2: 54,950,504 (GRCm39)	V395A	possibly damaging	Het
Gpd2	C	T	2: 57,235,275 (GRCm39)	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,235,759 (GRCm39)		probably benign	Het
Ints5	G	T	19: 8,874,497 (GRCm39)	V819L	possibly damaging	Het
Klhdc10	C	G	6: 30,450,669 (GRCm39)	Q292E	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,566 (GRCm39)	A67T	probably benign	Het
Lrp1	T	G	10: 127,430,838 (GRCm39)	T404P	probably damaging	Het
Marchf7	T	C	2: 60,064,470 (GRCm39)	S249P	probably benign	Het
Mcm10	T	A	2: 5,013,434 (GRCm39)	K66M	probably benign	Het
Muc6	T	A	7: 141,216,868 (GRCm39)	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,260,121 (GRCm39)		probably benign	Het
Myo18a	G	A	11: 77,741,632 (GRCm39)	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,406,695 (GRCm39)	L957S	probably damaging	Het
Ncoa3	T	C	2: 165,896,422 (GRCm39)	S442P	probably damaging	Het
Or5t5	G	A	2: 86,616,079 (GRCm39)	E2K	probably benign	Het
Or6x1	G	A	9: 40,098,729 (GRCm39)	G106D	probably damaging	Het
Or7g32	T	A	9: 19,388,776 (GRCm39)	T257S	possibly damaging	Het
Pdcd6	G	T	13: 74,457,831 (GRCm39)	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 108,856,810 (GRCm39)		probably benign	Het
Pfkm	A	G	15: 98,024,195 (GRCm39)	H401R	probably benign	Het
Phldb2	C	A	16: 45,601,814 (GRCm39)	D754Y	probably damaging	Het
Plekhb2	T	A	1: 34,902,195 (GRCm39)	M49K	probably damaging	Het
Polrmt	A	G	10: 79,573,445 (GRCm39)	S1057P	possibly damaging	Het
Prps1l1	A	G	12: 35,035,077 (GRCm39)	N64S	probably benign	Het
Prss3l	T	G	6: 41,422,190 (GRCm39)		probably benign	Het
Psg16	T	C	7: 16,864,583 (GRCm39)	S393P	probably benign	Het
Rundc1	C	T	11: 101,315,973 (GRCm39)	T15I	probably benign	Het
Scaf11	A	G	15: 96,329,697 (GRCm39)	L143S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpinf1	T	G	11: 75,304,771 (GRCm39)	I197L	probably benign	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Slc28a1	G	A	7: 80,787,925 (GRCm39)	V271I	probably benign	Het
Sntg1	T	C	1: 8,853,048 (GRCm39)	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,059,161 (GRCm39)		probably benign	Het
Suclg1	T	C	6: 73,233,211 (GRCm39)	I51T	possibly damaging	Het
Syne1	C	T	10: 5,491,989 (GRCm39)	R9Q	probably damaging	Het
Trim47	T	A	11: 115,997,344 (GRCm39)	H470L	probably damaging	Het
Ttc41	T	A	10: 86,548,841 (GRCm39)	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 139,612,105 (GRCm39)	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,691,116 (GRCm39)	T474M	probably damaging	Het
Ubr5	A	T	15: 38,019,201 (GRCm39)	N777K	probably benign	Het
Ush2a	T	C	1: 188,184,016 (GRCm39)	L1440P	probably damaging	Het
Usp28	A	C	9: 48,935,367 (GRCm39)	D458A	possibly damaging	Het
Vcan	A	T	13: 89,851,665 (GRCm39)	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,490,773 (GRCm39)	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,434,344 (GRCm39)	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,948,401 (GRCm39)	I549N	probably damaging	Het
Vps33b	T	A	7: 79,933,162 (GRCm39)		probably null	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	Het
Zfp974	T	A	7: 27,610,357 (GRCm39)	N456I	probably damaging	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
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
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'- AGACACATGCTATGCCAGGAAAGAC -3'
(R):5'- ACCCCTCAGGATTACAGTGGGAAC -3'

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

Posted On

2013-04-24