Mutagenetix > Incidental Mutation

Incidental Mutation 'R7236:Mtmr10'

574609

Institutional Source

Beutler Lab

Gene Symbol

Mtmr10

Ensembl Gene

ENSMUSG00000030522

Gene Name

myotubularin related protein 10

Synonyms

MMRRC Submission

045306-MU

Accession Numbers

Essential gene?

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

Stock #

R7236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63937418-63990554 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 63963932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146259 (fasta)

Gene Model

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

AlphaFold

Q7TPM9

Predicted Effect

silent
Transcript: ENSMUST00000032736

SMART Domains

Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522

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

probably benign
Transcript: ENSMUST00000206452

Predicted Effect

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	T	19: 4,921,644 (GRCm39)	V179I	probably benign	Het
Adra1b	A	G	11: 43,667,151 (GRCm39)	I362T	possibly damaging	Het
B3galnt1	T	C	3: 69,482,950 (GRCm39)	K104E	probably benign	Het
Bnc2	T	C	4: 84,474,101 (GRCm39)	Y15C	probably benign	Het
C2cd2l	C	A	9: 44,228,960 (GRCm39)	A124S	possibly damaging	Het
Camsap3	T	A	8: 3,654,116 (GRCm39)	F595L	probably damaging	Het
Cct2	A	T	10: 116,897,464 (GRCm39)	D93E	probably benign	Het
Cd200l2	A	T	16: 45,348,030 (GRCm39)	I169N	possibly damaging	Het
Cemip	A	T	7: 83,598,012 (GRCm39)		probably null	Het
Ciapin1	T	C	8: 95,550,338 (GRCm39)	T34A		Het
Dop1a	G	A	9: 86,397,431 (GRCm39)	V912I	probably damaging	Het
Efcab3	A	T	11: 104,790,093 (GRCm39)	Q2832L	probably benign	Het
Eif3c	T	C	7: 126,151,495 (GRCm39)	T610A	possibly damaging	Het
Ephb3	A	G	16: 21,033,231 (GRCm39)	R106G	probably damaging	Het
Ephx3	T	A	17: 32,404,328 (GRCm39)		probably null	Het
Etv2	A	T	7: 30,334,455 (GRCm39)	S93T	probably benign	Het
Fbxo34	T	A	14: 47,767,841 (GRCm39)	D451E	probably benign	Het
Fmo9	A	G	1: 166,504,140 (GRCm39)	F141L	probably damaging	Het
Fryl	T	C	5: 73,265,821 (GRCm39)	K500R	possibly damaging	Het
Gfra3	T	C	18: 34,828,884 (GRCm39)	D170G	probably damaging	Het
Gnptg	T	C	17: 25,458,897 (GRCm39)	N34S	possibly damaging	Het
Golga5	T	A	12: 102,441,034 (GRCm39)		probably null	Het
Herc2	G	T	7: 55,734,828 (GRCm39)	L139F	probably benign	Het
Ikzf2	T	A	1: 69,578,240 (GRCm39)	N423I	probably benign	Het
Il31ra	A	T	13: 112,660,439 (GRCm39)	*717R	probably null	Het
Itga2	G	T	13: 115,014,227 (GRCm39)	Q234K	probably benign	Het
Kcnt1	A	T	2: 25,799,951 (GRCm39)		probably null	Het
Kif19b	G	T	5: 140,457,400 (GRCm39)	A390S	probably benign	Het
Man2a2	T	C	7: 80,018,653 (GRCm39)	S69G	probably damaging	Het
Mccc1	A	G	3: 36,037,944 (GRCm39)	V294A	probably benign	Het
Mphosph8	T	A	14: 56,911,754 (GRCm39)	I259K	possibly damaging	Het
Mrpl15	A	T	1: 4,846,711 (GRCm39)	N288K	probably benign	Het
Msantd2	T	C	9: 37,400,965 (GRCm39)	W116R	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Nhsl1	A	G	10: 18,401,512 (GRCm39)	K879E	probably damaging	Het
Or8j3c	A	T	2: 86,253,533 (GRCm39)	C162*	probably null	Het
Pak6	A	G	2: 118,523,909 (GRCm39)	T355A	probably benign	Het
Patj	C	T	4: 98,299,294 (GRCm39)	R139C	probably damaging	Het
Pcdhb3	C	T	18: 37,434,505 (GRCm39)	A157V	probably damaging	Het
Phkg1	C	A	5: 129,895,802 (GRCm39)	D150Y	probably damaging	Het
Ppp2r5c	C	T	12: 110,432,323 (GRCm39)	S45L	probably benign	Het
Prl4a1	A	C	13: 28,202,556 (GRCm39)	T44P	probably benign	Het
Ptpro	G	A	6: 137,345,335 (GRCm39)	V114M	probably damaging	Het
Pwp1	A	G	10: 85,715,147 (GRCm39)	N211S	probably benign	Het
Ralgapb	A	G	2: 158,282,747 (GRCm39)	D504G	probably benign	Het
Rock2	A	T	12: 16,979,003 (GRCm39)	I98F	probably damaging	Het
Senp6	G	T	9: 80,040,247 (GRCm39)	V785L	probably damaging	Het
Simc1	A	G	13: 54,672,609 (GRCm39)	D319G	probably benign	Het
Tas2r105	A	T	6: 131,663,723 (GRCm39)	I235N	probably damaging	Het
Tas2r110	A	T	6: 132,845,667 (GRCm39)	M233L	possibly damaging	Het
Tmem260	C	T	14: 48,746,647 (GRCm39)		probably null	Het
Trank1	G	T	9: 111,202,142 (GRCm39)	V1590L	possibly damaging	Het
Tsc2	A	T	17: 24,842,568 (GRCm39)	M286K	possibly damaging	Het
Ttn	T	C	2: 76,697,796 (GRCm39)	T202A		Het
Ttyh1	A	G	7: 4,136,663 (GRCm39)	N424D	probably benign	Het
Usp24	T	A	4: 106,263,502 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,585,204 (GRCm39)	P2620Q	probably benign	Het
Vmn1r45	A	G	6: 89,910,133 (GRCm39)	M279T	probably benign	Het
Vmn2r115	T	A	17: 23,578,576 (GRCm39)	I683K	probably benign	Het
Vmn2r34	T	C	7: 7,684,750 (GRCm39)	K481E	probably damaging	Het
Vmn2r54	T	A	7: 12,365,917 (GRCm39)	H339L	possibly damaging	Het
Vmn2r94	T	A	17: 18,477,811 (GRCm39)	N200I	possibly damaging	Het
Wdfy3	A	G	5: 101,984,074 (GRCm39)	Y3493H	probably damaging	Het
Wdr5b	A	G	16: 35,862,208 (GRCm39)	D109G	possibly damaging	Het
Zfp286	A	T	11: 62,674,496 (GRCm39)		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
R4562:Mtmr10	UTSW	7	63,963,907 (GRCm39)	missense	possibly damaging	0.92
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
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'- GAATTTTAGACGCAGAAGGCC -3'
(R):5'- TCTTCACAGAGGTCTTTTCCAG -3'

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

Posted On

2019-09-23