Mutagenetix > Incidental Mutations

Incidental Mutation 'R4562:Mtmr10'

343140

Institutional Source

Beutler Lab

Gene Symbol

Mtmr10

Ensembl Gene

ENSMUSG00000030522

Gene Name

myotubularin related protein 10

Synonyms

MMRRC Submission

041787-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R4562 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64287653-64340806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64314159 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 214 (T214M)

Ref Sequence

ENSEMBL: ENSMUSP00000032736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032736] [ENSMUST00000206452]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032736
AA Change: T214M

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: T214M

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	176	330	8.6e-12	PFAM
Pfam:Myotub-related	319	508	2.7e-56	PFAM
Pfam:3-PAP	570	701	2.2e-57	PFAM
low complexity region	730	737	N/A	INTRINSIC

Predicted Effect

not run
Transcript: ENSMUST00000173448
AA Change: R42C

Predicted Effect

probably benign
Transcript: ENSMUST00000206452

Predicted Effect

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	G	A	3: 36,066,182	R25K	probably benign	Het
Acap1	C	T	11: 69,885,351		probably benign	Het
Aox1	T	C	1: 58,059,056	L309P	probably damaging	Het
Arhgap8	A	C	15: 84,741,913	D63A	probably damaging	Het
Asap2	A	G	12: 21,112,093	D17G	probably damaging	Het
Atp8b1	A	T	18: 64,556,891	V590D	probably damaging	Het
Bace2	G	A	16: 97,421,980	R368Q	probably damaging	Het
Cad	G	A	5: 31,058,133	S96N	possibly damaging	Het
Csmd3	T	C	15: 47,899,844	T1303A	probably benign	Het
Defa24	A	G	8: 21,734,507		probably benign	Het
Dffb	A	G	4: 153,965,456	C317R	probably damaging	Het
Erap1	T	C	13: 74,673,659	V711A	probably benign	Het
Esco1	A	G	18: 10,595,074	S71P	possibly damaging	Het
Evpl	G	A	11: 116,233,399	T198M	possibly damaging	Het
Fam208a	A	G	14: 27,466,308	T904A	possibly damaging	Het
Gm10797	A	G	10: 67,572,685		noncoding transcript	Het
Gm10822	C	T	2: 73,899,489		noncoding transcript	Het
Gm9268	C	T	7: 43,023,562	Q130*	probably null	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Ift22	A	G	5: 136,912,870	E152G	probably benign	Het
Ighv3-5	T	A	12: 114,262,878	T25S	possibly damaging	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,571,955		probably benign	Het
Kcna5	T	C	6: 126,534,340	H275R	probably benign	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Klf14	G	A	6: 30,958,459	A80V	probably damaging	Het
Lrrc71	T	A	3: 87,745,408		probably benign	Het
Lypd8	T	A	11: 58,382,389		probably null	Het
Mef2b	G	A	8: 70,167,268	D345N	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Olfr1289	A	T	2: 111,483,564	M45L	probably benign	Het
Olfr309	A	G	7: 86,307,152		probably benign	Het
Olfr980	A	G	9: 40,006,281	S223P	probably damaging	Het
Orc1	T	C	4: 108,602,055		probably null	Het
P4htm	T	C	9: 108,581,996	S246G	probably null	Het
Pax2	A	G	19: 44,835,963	Y374C	unknown	Het
Pde6b	A	G	5: 108,403,368	K173E	probably benign	Het
Pde8a	T	A	7: 81,308,820	Y315*	probably null	Het
Plekhh2	A	G	17: 84,566,097	D270G	probably benign	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Ryr1	C	A	7: 29,074,580		probably benign	Het
Slc4a1ap	G	A	5: 31,532,029	V347M	probably damaging	Het
Tln1	C	A	4: 43,533,598	A2319S	probably damaging	Het
Tm6sf1	G	A	7: 81,859,461	A5T	probably damaging	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Tnfrsf22	C	T	7: 143,649,576	R19Q	unknown	Het
Tnfsf11	T	C	14: 78,278,580	D316G	probably damaging	Het
Trerf1	G	A	17: 47,327,071		noncoding transcript	Het
Ttc13	A	G	8: 124,675,277	L657P	probably damaging	Het
Unc79	C	T	12: 102,991,461	T45I	probably damaging	Het
Usp3	G	T	9: 66,520,765		probably benign	Het
Wdr31	A	C	4: 62,453,922	L319W	probably damaging	Het
Zfp947	G	T	17: 22,146,143	Y183*	probably null	Het

Other mutations in Mtmr10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01999:Mtmr10	APN	7	64337712	missense	probably benign
IGL02082:Mtmr10	APN	7	64333490	splice site	probably benign
IGL02234:Mtmr10	APN	7	64299602	missense	probably benign	0.04
IGL02448:Mtmr10	APN	7	64308150	missense	probably damaging	1.00
IGL02515:Mtmr10	APN	7	64337511	missense	probably damaging	1.00
Curlyq	UTSW	7	64333439	missense	probably damaging	1.00
K7371:Mtmr10	UTSW	7	64314210	missense	probably benign	0.18
PIT4472001:Mtmr10	UTSW	7	64333358	missense	probably benign	0.23
R0302:Mtmr10	UTSW	7	64297497	missense	probably damaging	1.00
R0619:Mtmr10	UTSW	7	64321213	missense	probably benign	0.00
R0787:Mtmr10	UTSW	7	64300615	missense	possibly damaging	0.95
R0972:Mtmr10	UTSW	7	64326709	missense	probably damaging	1.00
R1482:Mtmr10	UTSW	7	64314249	missense	probably damaging	1.00
R1770:Mtmr10	UTSW	7	64336721	missense	possibly damaging	0.47
R1826:Mtmr10	UTSW	7	64337466	missense	probably benign	0.00
R2174:Mtmr10	UTSW	7	64336764	missense	possibly damaging	0.94
R2215:Mtmr10	UTSW	7	64337655	missense	probably benign	0.00
R2352:Mtmr10	UTSW	7	64297580	missense	possibly damaging	0.71
R2411:Mtmr10	UTSW	7	64297497	missense	probably damaging	1.00
R3702:Mtmr10	UTSW	7	64337899	missense	probably damaging	1.00
R3710:Mtmr10	UTSW	7	64326685	missense	possibly damaging	0.86
R3802:Mtmr10	UTSW	7	64320628	missense	probably benign	0.29
R4190:Mtmr10	UTSW	7	64314186	missense	probably benign	0.37
R4484:Mtmr10	UTSW	7	64320631	missense	possibly damaging	0.86
R5128:Mtmr10	UTSW	7	64333439	missense	probably damaging	1.00
R5203:Mtmr10	UTSW	7	64318161	missense	probably benign
R5444:Mtmr10	UTSW	7	64288401	unclassified	probably null
R5627:Mtmr10	UTSW	7	64336752	missense	probably damaging	1.00
R5786:Mtmr10	UTSW	7	64337710	missense	probably damaging	1.00
R7078:Mtmr10	UTSW	7	64320627	missense	possibly damaging	0.65
R7236:Mtmr10	UTSW	7	64314184	utr 3 prime	probably benign
R7575:Mtmr10	UTSW	7	64297465	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTTAGACGCAGAAGGCCACAC -3'
(R):5'- TATTCTTCACAGAGGTCTTTTCCAG -3'

Sequencing Primer
(F):5'- GGCCACACATAGGACATGTATG -3'
(R):5'- CACAGAGGTCTTTTCCAGGTGTG -3'

Posted On

2015-09-24