Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R4562 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63937418-63990554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63963907 bp (GRCm39)

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]

AlphaFold

Q7TPM9

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: 36,120,331 (GRCm39)	R25K	probably benign	Het
Acap1	C	T	11: 69,776,177 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,098,215 (GRCm39)	L309P	probably damaging	Het
Asap2	A	G	12: 21,162,094 (GRCm39)	D17G	probably damaging	Het
Atp8b1	A	T	18: 64,689,962 (GRCm39)	V590D	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Cad	G	A	5: 31,215,477 (GRCm39)	S96N	possibly damaging	Het
Csmd3	T	C	15: 47,763,240 (GRCm39)	T1303A	probably benign	Het
Defa24	A	G	8: 22,224,523 (GRCm39)		probably benign	Het
Dffb	A	G	4: 154,049,913 (GRCm39)	C317R	probably damaging	Het
Erap1	T	C	13: 74,821,778 (GRCm39)	V711A	probably benign	Het
Esco1	A	G	18: 10,595,074 (GRCm39)	S71P	possibly damaging	Het
Evpl	G	A	11: 116,124,225 (GRCm39)	T198M	possibly damaging	Het
Gm10797	A	G	10: 67,408,515 (GRCm39)		noncoding transcript	Het
Gm10822	C	T	2: 73,729,833 (GRCm39)		noncoding transcript	Het
Huwe1	A	T	X: 150,646,955 (GRCm39)	I682F	probably damaging	Het
Ift22	A	G	5: 136,941,724 (GRCm39)	E152G	probably benign	Het
Ighv3-5	T	A	12: 114,226,498 (GRCm39)	T25S	possibly damaging	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,479,262 (GRCm39)		probably benign	Het
Kcna5	T	C	6: 126,511,303 (GRCm39)	H275R	probably benign	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Klf14	G	A	6: 30,935,394 (GRCm39)	A80V	probably damaging	Het
Lrrc71	T	A	3: 87,652,715 (GRCm39)		probably benign	Het
Lypd8	T	A	11: 58,273,215 (GRCm39)		probably null	Het
Mef2b	G	A	8: 70,619,918 (GRCm39)	D345N	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Or10g9b	A	G	9: 39,917,577 (GRCm39)	S223P	probably damaging	Het
Or13g1	A	G	7: 85,956,360 (GRCm39)		probably benign	Het
Or4f4b	A	T	2: 111,313,909 (GRCm39)	M45L	probably benign	Het
Orc1	T	C	4: 108,459,252 (GRCm39)		probably null	Het
P4htm	T	C	9: 108,459,195 (GRCm39)	S246G	probably null	Het
Pax2	A	G	19: 44,824,402 (GRCm39)	Y374C	unknown	Het
Pde6b	A	G	5: 108,551,234 (GRCm39)	K173E	probably benign	Het
Pde8a	T	A	7: 80,958,568 (GRCm39)	Y315*	probably null	Het
Plekhh2	A	G	17: 84,873,525 (GRCm39)	D270G	probably benign	Het
Prr5	A	C	15: 84,626,114 (GRCm39)	D63A	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Ryr1	C	A	7: 28,774,005 (GRCm39)		probably benign	Het
Slc4a1ap	G	A	5: 31,689,373 (GRCm39)	V347M	probably damaging	Het
Tasor	A	G	14: 27,188,265 (GRCm39)	T904A	possibly damaging	Het
Tln1	C	A	4: 43,533,598 (GRCm39)	A2319S	probably damaging	Het
Tm6sf1	G	A	7: 81,509,209 (GRCm39)	A5T	probably damaging	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Tnfrsf22	C	T	7: 143,203,313 (GRCm39)	R19Q	unknown	Het
Tnfsf11	T	C	14: 78,516,020 (GRCm39)	D316G	probably damaging	Het
Trerf1	G	A	17: 47,637,997 (GRCm39)		noncoding transcript	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Unc79	C	T	12: 102,957,720 (GRCm39)	T45I	probably damaging	Het
Usp3	G	T	9: 66,428,047 (GRCm39)		probably benign	Het
Vmn2r-ps158	C	T	7: 42,672,986 (GRCm39)	Q130*	probably null	Het
Wdr31	A	C	4: 62,372,159 (GRCm39)	L319W	probably damaging	Het
Zfp947	G	T	17: 22,365,124 (GRCm39)	Y183*	probably null	Het

Other mutations in Mtmr10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01999:Mtmr10	APN	7	63,987,460 (GRCm39)	missense	probably benign
IGL02082:Mtmr10	APN	7	63,983,238 (GRCm39)	splice site	probably benign
IGL02234:Mtmr10	APN	7	63,949,350 (GRCm39)	missense	probably benign	0.04
IGL02448:Mtmr10	APN	7	63,957,898 (GRCm39)	missense	probably damaging	1.00
IGL02515:Mtmr10	APN	7	63,987,259 (GRCm39)	missense	probably damaging	1.00
Curlyq	UTSW	7	63,983,187 (GRCm39)	missense	probably damaging	1.00
K7371:Mtmr10	UTSW	7	63,963,958 (GRCm39)	missense	probably benign	0.18
PIT4472001:Mtmr10	UTSW	7	63,983,106 (GRCm39)	missense	probably benign	0.23
R0302:Mtmr10	UTSW	7	63,947,245 (GRCm39)	missense	probably damaging	1.00
R0619:Mtmr10	UTSW	7	63,970,961 (GRCm39)	missense	probably benign	0.00
R0787:Mtmr10	UTSW	7	63,950,363 (GRCm39)	missense	possibly damaging	0.95
R0972:Mtmr10	UTSW	7	63,976,457 (GRCm39)	missense	probably damaging	1.00
R1482:Mtmr10	UTSW	7	63,963,997 (GRCm39)	missense	probably damaging	1.00
R1770:Mtmr10	UTSW	7	63,986,469 (GRCm39)	missense	possibly damaging	0.47
R1826:Mtmr10	UTSW	7	63,987,214 (GRCm39)	missense	probably benign	0.00
R2174:Mtmr10	UTSW	7	63,986,512 (GRCm39)	missense	possibly damaging	0.94
R2215:Mtmr10	UTSW	7	63,987,403 (GRCm39)	missense	probably benign	0.00
R2352:Mtmr10	UTSW	7	63,947,328 (GRCm39)	missense	possibly damaging	0.71
R2411:Mtmr10	UTSW	7	63,947,245 (GRCm39)	missense	probably damaging	1.00
R3702:Mtmr10	UTSW	7	63,987,647 (GRCm39)	missense	probably damaging	1.00
R3710:Mtmr10	UTSW	7	63,976,433 (GRCm39)	missense	possibly damaging	0.86
R3802:Mtmr10	UTSW	7	63,970,376 (GRCm39)	missense	probably benign	0.29
R4190:Mtmr10	UTSW	7	63,963,934 (GRCm39)	missense	probably benign	0.37
R4484:Mtmr10	UTSW	7	63,970,379 (GRCm39)	missense	possibly damaging	0.86
R5128:Mtmr10	UTSW	7	63,983,187 (GRCm39)	missense	probably damaging	1.00
R5203:Mtmr10	UTSW	7	63,967,909 (GRCm39)	missense	probably benign
R5444:Mtmr10	UTSW	7	63,938,149 (GRCm39)	splice site	probably null
R5627:Mtmr10	UTSW	7	63,986,500 (GRCm39)	missense	probably damaging	1.00
R5786:Mtmr10	UTSW	7	63,987,458 (GRCm39)	missense	probably damaging	1.00
R7078:Mtmr10	UTSW	7	63,970,375 (GRCm39)	missense	possibly damaging	0.65
R7236:Mtmr10	UTSW	7	63,963,932 (GRCm39)	utr 3 prime	probably benign
R7575:Mtmr10	UTSW	7	63,947,213 (GRCm39)	missense	probably damaging	0.99
R7863:Mtmr10	UTSW	7	63,969,205 (GRCm39)	missense	probably benign	0.03
R7939:Mtmr10	UTSW	7	63,963,899 (GRCm39)	missense	probably benign	0.19
R9370:Mtmr10	UTSW	7	63,969,249 (GRCm39)	missense	probably benign	0.12

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