Mutagenetix > Incidental Mutation

Incidental Mutation 'R0787:Mtmr10'

76903

Institutional Source

Beutler Lab

Gene Symbol

Mtmr10

Ensembl Gene

ENSMUSG00000030522

Gene Name

myotubularin related protein 10

Synonyms

MMRRC Submission

038967-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R0787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63937418-63990554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63950363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 136 (I136T)

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: I136T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: I136T

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

possibly damaging
Transcript: ENSMUST00000206452
AA Change: I136T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000206680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206732

Meta Mutation Damage Score

0.2509

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001F09Rik	A	T	14: 43,202,950 (GRCm39)		probably null	Het
Abca8a	T	A	11: 109,933,814 (GRCm39)	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,786,955 (GRCm39)		probably null	Het
Adamts16	A	T	13: 70,886,948 (GRCm39)	C979S	probably damaging	Het
Agap2	T	A	10: 126,921,019 (GRCm39)	D523E	unknown	Het
Ankfy1	T	A	11: 72,651,122 (GRCm39)	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,700,315 (GRCm39)	S379G	probably null	Het
Arhgap40	T	C	2: 158,389,710 (GRCm39)	S625P	probably benign	Het
Armc12	G	C	17: 28,757,740 (GRCm39)	A291P	probably damaging	Het
Armc9	A	G	1: 86,130,227 (GRCm39)	N524D	probably damaging	Het
Col12a1	G	T	9: 79,545,767 (GRCm39)	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,036,079 (GRCm39)	N277S	probably benign	Het
Czib	T	A	4: 107,747,326 (GRCm39)	L6Q	probably damaging	Het
Dennd2b	G	T	7: 109,124,827 (GRCm39)	R1068S	possibly damaging	Het
E130311K13Rik	A	T	3: 63,827,719 (GRCm39)	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,772,696 (GRCm39)	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,336,010 (GRCm39)	E58G	probably damaging	Het
Fam217b	T	A	2: 178,062,702 (GRCm39)	V222E	probably benign	Het
Fat1	T	A	8: 45,493,592 (GRCm39)	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,241,765 (GRCm39)		probably benign	Het
Hltf	A	T	3: 20,160,610 (GRCm39)	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Isg15	C	T	4: 156,284,396 (GRCm39)	R44H	probably benign	Het
Itga4	C	T	2: 79,109,497 (GRCm39)	T232I	probably benign	Het
Kntc1	C	A	5: 123,934,167 (GRCm39)	H1399Q	probably benign	Het
Lig1	A	C	7: 13,032,995 (GRCm39)	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,504,230 (GRCm39)	C29F	probably damaging	Het
Naip1	A	G	13: 100,562,604 (GRCm39)	Y854H	probably benign	Het
Or6c201	T	C	10: 128,969,395 (GRCm39)	N81D	possibly damaging	Het
Pcdh9	G	A	14: 94,124,193 (GRCm39)	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,487,479 (GRCm39)		probably benign	Het
Phgdh	A	G	3: 98,241,865 (GRCm39)	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,827,031 (GRCm39)	M326K	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,802,916 (GRCm39)	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,392,660 (GRCm39)	P1665Q	probably damaging	Het
Ppp1r7	A	G	1: 93,292,678 (GRCm39)	T326A	probably damaging	Het
Prr22	A	T	17: 57,078,072 (GRCm39)	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,514,894 (GRCm39)		probably null	Het
Rasal2	A	G	1: 156,986,266 (GRCm39)	S766P	probably damaging	Het
Shmt1	T	C	11: 60,683,802 (GRCm39)	T337A	probably benign	Het
Tbc1d4	A	T	14: 101,686,645 (GRCm39)	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,912,777 (GRCm39)	V1126A	probably benign	Het
Tep1	A	T	14: 51,066,687 (GRCm39)	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,586,449 (GRCm39)	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,200,965 (GRCm39)	I425V	probably benign	Het
Ubr3	T	C	2: 69,781,765 (GRCm39)		probably benign	Het
Ubxn7	T	A	16: 32,200,581 (GRCm39)		probably benign	Het
Vmn2r13	A	G	5: 109,304,713 (GRCm39)	S573P	probably damaging	Het
Wdfy3	A	T	5: 102,105,254 (GRCm39)	V191E	probably damaging	Het
Zdhhc3	A	T	9: 122,912,688 (GRCm39)	C153*	probably null	Het
Zfp407	A	T	18: 84,227,147 (GRCm39)	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,227,471 (GRCm39)	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,634 (GRCm39)	I227N	unknown	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
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
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'- CCATGCTGAGAAGCAGTTAGAACTGTAA -3'
(R):5'- TGGCTAGTAGCGGTCATAAAGAAGGA -3'

Sequencing Primer
(F):5'- CAGTTAGAACTGTAAATGAGCACC -3'
(R):5'- gtgcttccagctacgcc -3'

Posted On

2013-10-16