Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Mtmr7'

193203

Institutional Source

Beutler Lab

Gene Symbol

Mtmr7

Ensembl Gene

ENSMUSG00000039431

Gene Name

myotubularin related protein 7

Synonyms

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40551095-40634797 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40551811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 575 (T575A)

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 benign
Transcript: ENSMUST00000048898
AA Change: T575A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043851
Gene: ENSMUSG00000039431
AA Change: T575A

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

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 122,110,681	V794M	probably benign	Het
Abca4	A	T	3: 122,163,830	T772S	probably damaging	Het
Acox3	G	A	5: 35,608,339		probably null	Het
Adamts17	A	G	7: 67,147,715	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Als2	T	C	1: 59,174,991	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,585,015	F321I	probably benign	Het
Atp5f1	A	G	3: 105,951,589		probably null	Het
Bloc1s5	A	G	13: 38,619,084		probably benign	Het
Btbd9	T	C	17: 30,334,297	N397S	possibly damaging	Het
Cacna1d	A	G	14: 30,099,196	V1121A	probably benign	Het
Cad	G	A	5: 31,060,951	V460I	probably damaging	Het
Caprin2	A	T	6: 148,843,121	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,354,636	K686N	probably benign	Het
Ccnt2	T	C	1: 127,799,406	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,367,880		probably null	Het
Chrna7	A	G	7: 63,099,252	V494A	probably benign	Het
Clec2i	T	G	6: 128,895,425	Y198*	probably null	Het
Col22a1	A	G	15: 72,007,176	V44A	probably damaging	Het
Cspg4	T	A	9: 56,886,979	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,465,031		probably null	Het
Dlk1	G	T	12: 109,458,119	C102F	probably damaging	Het
Dscc1	T	A	15: 55,084,139	H215L	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176		probably benign	Het
Dus1l	C	G	11: 120,795,671	G15R	probably benign	Het
Eps8l1	G	T	7: 4,471,823	V268L	probably benign	Het
F2	A	C	2: 91,634,906	C104W	probably damaging	Het
F5	C	A	1: 164,192,535	Q860K	probably benign	Het
Fmn2	T	C	1: 174,502,266	L74P	unknown	Het
Frmd6	G	A	12: 70,893,622	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,054,767	S158A	probably damaging	Het
Galc	T	C	12: 98,234,266	N295S	probably damaging	Het
Gm436	A	G	4: 144,669,959	V401A	probably benign	Het
Gm6408	A	T	5: 146,482,322	N49I	probably damaging	Het
Grm1	T	A	10: 11,079,866	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,867	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,314,590	D59G	probably damaging	Het
Iars	G	A	13: 49,723,077		probably null	Het
Ifi27	C	T	12: 103,437,682	A127V	possibly damaging	Het
Ikbip	A	G	10: 91,096,481	N329S	probably damaging	Het
Ikbke	T	C	1: 131,265,877	T479A	probably benign	Het
Krt12	T	A	11: 99,416,060	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,907,191	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,650,252	V128A	probably benign	Het
Map4k4	C	A	1: 40,000,757		probably benign	Het
Myh13	G	A	11: 67,334,576	A256T	probably benign	Het
Napepld	A	G	5: 21,683,410	Y14H	probably benign	Het
Npr1	T	C	3: 90,459,337	T552A	probably damaging	Het
Nudt15	A	G	14: 73,521,647	F127S	probably benign	Het
Nwd2	T	A	5: 63,808,271	S1733T	probably benign	Het
Olfr1189	A	G	2: 88,592,436	I211V	probably benign	Het
Olfr1257	G	A	2: 89,881,129	G101E	probably damaging	Het
Olfr1348	T	G	7: 6,501,441	I262L	probably benign	Het
Olfr907	A	G	9: 38,499,038	Y123C	probably damaging	Het
Olfr96	T	C	17: 37,225,430	F102L	probably benign	Het
Paqr7	A	T	4: 134,507,098	I89F	probably benign	Het
Pidd1	C	A	7: 141,439,630	V706L	probably benign	Het
Polr3c	A	T	3: 96,713,595	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,348,547	Y233H	probably damaging	Het
Psmc3	A	G	2: 91,055,995	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,842,542	I753L	probably benign	Het
Rad21	T	C	15: 51,978,170	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989	E479G	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,910,640	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,294,425	D1449G	probably damaging	Het
Sema4g	C	T	19: 45,001,605	R708*	probably null	Het
Sept9	T	C	11: 117,290,428	I18T	probably benign	Het
Serpinb6b	A	G	13: 32,978,058	E280G	probably damaging	Het
Slamf6	T	C	1: 171,942,587		probably benign	Het
Slc6a21	G	A	7: 45,287,734	W554*	probably null	Het
Slco1a4	A	C	6: 141,812,731	I518R	probably benign	Het
Stab1	T	A	14: 31,168,416	Q26L	probably benign	Het
Stox1	A	G	10: 62,667,965	F104L	probably damaging	Het
Suco	T	C	1: 161,834,949	K638E	possibly damaging	Het
Synpo	T	C	18: 60,602,784	K458E	probably damaging	Het
Szt2	A	T	4: 118,372,368	W2820R	unknown	Het
Tmtc1	C	A	6: 148,294,618	G499W	probably damaging	Het
Tonsl	A	C	15: 76,638,066	S242R	probably damaging	Het
Trpc4	G	T	3: 54,194,822	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,520,428	R1581C	probably benign	Het
Zfp27	A	G	7: 29,895,376	L388P	possibly 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
R1443:Mtmr7	UTSW	8	40560882	missense	probably damaging	1.00
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
R9527:Mtmr7	UTSW	8	40558304	missense	possibly damaging	0.74
Z1177:Mtmr7	UTSW	8	40597379	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAACACAGCTTCGTCCGAGTCC -3'
(R):5'- TCAACTGCCACAAGAGTCTTGTCC -3'

Sequencing Primer
(F):5'- ACTGGGAGATCGACAGCTC -3'
(R):5'- AATGTTACCCTCAACTGGGAG -3'

Posted On

2014-05-23