Mutagenetix > Incidental Mutation

Incidental Mutation 'R7939:Mtmr10'

648937

Institutional Source

Beutler Lab

Gene Symbol

Mtmr10

Ensembl Gene

ENSMUSG00000030522

Gene Name

myotubularin related protein 10

Synonyms

MMRRC Submission

045985-MU

Accession Numbers

Essential gene?

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

Stock #

R7939 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63937418-63990554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63963899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 211 (S211R)

Ref Sequence

ENSEMBL: ENSMUSP00000032736 (fasta)

Gene Model

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

AlphaFold

Q7TPM9

Predicted Effect

probably benign
Transcript: ENSMUST00000032736
AA Change: S211R

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: S211R

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

probably damaging
Transcript: ENSMUST00000206680
AA Change: A39D

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,275,433 (GRCm39)	I415T	probably damaging	Het
Ackr3	A	G	1: 90,142,287 (GRCm39)	S249G	probably benign	Het
Adgre1	G	T	17: 57,756,938 (GRCm39)	A732S	probably damaging	Het
Ahnak	T	A	19: 8,991,448 (GRCm39)	L4244*	probably null	Het
Aldh3a2	C	A	11: 61,115,424 (GRCm39)	C511F	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd11	A	T	8: 123,617,812 (GRCm39)	H2013Q	probably damaging	Het
Atp5mc3	A	G	2: 73,740,206 (GRCm39)		probably null	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Chtf18	A	T	17: 25,941,111 (GRCm39)	I629N	probably damaging	Het
Clstn3	T	C	6: 124,439,158 (GRCm39)	Y33C	probably damaging	Het
Cmc2	T	C	8: 117,616,513 (GRCm39)	R71G	unknown	Het
Cts7	A	T	13: 61,504,364 (GRCm39)	N66K	probably damaging	Het
Cysltr2	C	T	14: 73,267,399 (GRCm39)	V104I	possibly damaging	Het
Dnai4	G	A	4: 102,953,798 (GRCm39)	Q134*	probably null	Het
Dnm3	C	T	1: 162,123,165 (GRCm39)	V460I	possibly damaging	Het
Ecel1	C	T	1: 87,077,256 (GRCm39)	V651I	probably benign	Het
Ext2	G	A	2: 93,560,601 (GRCm39)	R522C	probably damaging	Het
Farp2	T	C	1: 93,487,983 (GRCm39)	L70P	probably damaging	Het
Fnip1	T	C	11: 54,393,093 (GRCm39)	Y510H	probably damaging	Het
Gm15446	T	C	5: 110,090,360 (GRCm39)	V204A	probably benign	Het
Gm29394	T	C	15: 57,912,046 (GRCm39)	K53E	unknown	Het
Gm39115	T	C	7: 141,689,768 (GRCm39)	T2A	unknown	Het
Helz2	A	G	2: 180,879,543 (GRCm39)	W692R	probably damaging	Het
Htra2	A	T	6: 83,028,545 (GRCm39)	Y428N	probably damaging	Het
Khdrbs2	T	A	1: 32,212,056 (GRCm39)	S20T	probably benign	Het
Kifap3	C	A	1: 163,643,427 (GRCm39)	Y217*	probably null	Het
Mast2	A	T	4: 116,287,668 (GRCm39)	S136T	probably benign	Het
Mesp1	C	T	7: 79,442,734 (GRCm39)	W181*	probably null	Het
Mtch1	A	C	17: 29,559,806 (GRCm39)	S158A	probably damaging	Het
Mtmr9	C	A	14: 63,771,973 (GRCm39)	Q204H	probably damaging	Het
Myo5a	A	G	9: 75,097,182 (GRCm39)	N43D		Het
Myom3	G	T	4: 135,534,589 (GRCm39)		probably null	Het
Neb	T	C	2: 52,076,073 (GRCm39)	D5903G	probably damaging	Het
Niban1	T	G	1: 151,581,775 (GRCm39)	L457R	probably damaging	Het
Noxred1	A	G	12: 87,268,105 (GRCm39)	V342A	probably benign	Het
Nsd2	T	A	5: 34,012,933 (GRCm39)	S421R	probably benign	Het
Or10a3	T	C	7: 108,480,481 (GRCm39)	I111V	probably benign	Het
Or5p55	T	A	7: 107,566,986 (GRCm39)	C127*	probably null	Het
Oxa1l	T	C	14: 54,604,876 (GRCm39)	C270R	probably benign	Het
Pcdha3	T	A	18: 37,080,933 (GRCm39)	N558K	probably damaging	Het
Pcdha7	T	C	18: 37,109,063 (GRCm39)	V696A	possibly damaging	Het
Pigl	T	C	11: 62,349,506 (GRCm39)	L74P	probably damaging	Het
Plch2	G	T	4: 155,087,235 (GRCm39)	R339S	possibly damaging	Het
Prdm11	G	T	2: 92,843,074 (GRCm39)	D128E	probably damaging	Het
Ptdss1	A	G	13: 67,143,411 (GRCm39)	T415A	probably benign	Het
Ptprj	A	T	2: 90,295,009 (GRCm39)	W400R	probably damaging	Het
Qdpr	T	C	5: 45,607,407 (GRCm39)	Y13C	probably damaging	Het
Retsat	G	A	6: 72,581,919 (GRCm39)	M355I	probably benign	Het
Slc24a1	T	G	9: 64,835,648 (GRCm39)	E826D	probably benign	Het
Taok3	T	C	5: 117,331,902 (GRCm39)	F40L	probably benign	Het
Tecta	T	C	9: 42,299,519 (GRCm39)	T190A	probably damaging	Het
Tmem220	C	A	11: 66,920,850 (GRCm39)	T85K	probably damaging	Het
Traip	T	C	9: 107,833,077 (GRCm39)	F38L	probably benign	Het
Tspan1	A	T	4: 116,024,209 (GRCm39)	I18N	probably damaging	Het
Ttc24	A	T	3: 87,981,945 (GRCm39)	D40E	possibly damaging	Het
Ttn	A	T	2: 76,542,737 (GRCm39)	Y33416*	probably null	Het
Ttn	A	T	2: 76,576,105 (GRCm39)	D24929E	probably damaging	Het
Vmn2r16	T	A	5: 109,487,705 (GRCm39)	S193T	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,651 (GRCm39)	W300R	probably damaging	Het
Vps13a	C	T	19: 16,718,155 (GRCm39)	V522M	possibly damaging	Het
Wdr17	C	A	8: 55,140,677 (GRCm39)	R232L	probably damaging	Het
Wtap	A	T	17: 13,200,683 (GRCm39)	Y33*	probably null	Het
Zc3h10	A	T	10: 128,380,376 (GRCm39)	V327E	probably damaging	Het
Zfp658	T	C	7: 43,224,301 (GRCm39)	S859P	possibly damaging	Het
Zfp874b	A	T	13: 67,622,622 (GRCm39)	C225*	probably null	Het
Zfp980	A	T	4: 145,428,582 (GRCm39)	H437L	probably damaging	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
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
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

2020-09-15