Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R0787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64287653-64340806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64300615 bp

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]

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
0610037L13Rik	T	A	4: 107,890,129	L6Q	probably damaging	Het
1700001F09Rik	A	T	14: 43,345,493		probably null	Het
Abca8a	T	A	11: 110,042,988	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,798,516		probably null	Het
Adamts16	A	T	13: 70,738,829	C979S	probably damaging	Het
Agap2	T	A	10: 127,085,150	D523E	unknown	Het
Ankfy1	T	A	11: 72,760,296	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,994,678	S379G	probably null	Het
Arhgap40	T	C	2: 158,547,790	S625P	probably benign	Het
Armc12	G	C	17: 28,538,766	A291P	probably damaging	Het
Armc9	A	G	1: 86,202,505	N524D	probably damaging	Het
Col12a1	G	T	9: 79,638,485	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,047,635	N277S	probably benign	Het
E130311K13Rik	A	T	3: 63,920,298	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,722,668	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,494,090	E58G	probably damaging	Het
Fam217b	T	A	2: 178,420,909	V222E	probably benign	Het
Fat1	T	A	8: 45,040,555	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,423,901		probably benign	Het
Hltf	A	T	3: 20,106,446	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,569,499		probably benign	Het
Isg15	C	T	4: 156,199,939	R44H	probably benign	Het
Itga4	C	T	2: 79,279,153	T232I	probably benign	Het
Kntc1	C	A	5: 123,796,104	H1399Q	probably benign	Het
Lig1	A	C	7: 13,299,069	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,454,231	C29F	probably damaging	Het
Naip1	A	G	13: 100,426,096	Y854H	probably benign	Het
Olfr770	T	C	10: 129,133,526	N81D	possibly damaging	Het
Pcdh9	G	A	14: 93,886,757	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,615,630		probably benign	Het
Phgdh	A	G	3: 98,334,549	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,690,523	M326K	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,076,177	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,529,264	P1665Q	probably damaging	Het
Ppp1r7	A	G	1: 93,364,956	T326A	probably damaging	Het
Prr22	A	T	17: 56,771,072	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,865,470		probably null	Het
Rasal2	A	G	1: 157,158,696	S766P	probably damaging	Het
Shmt1	T	C	11: 60,792,976	T337A	probably benign	Het
St5	G	T	7: 109,525,620	R1068S	possibly damaging	Het
Tbc1d4	A	T	14: 101,449,209	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,946,343	V1126A	probably benign	Het
Tep1	A	T	14: 50,829,230	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,789,561	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,370,484	I425V	probably benign	Het
Ubr3	T	C	2: 69,951,421		probably benign	Het
Ubxn7	T	A	16: 32,381,763		probably benign	Het
Vmn2r13	A	G	5: 109,156,847	S573P	probably damaging	Het
Wdfy3	A	T	5: 101,957,388	V191E	probably damaging	Het
Zdhhc3	A	T	9: 123,083,623	C153*	probably null	Het
Zfp407	A	T	18: 84,209,022	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,209,346	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,548	I227N	unknown	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
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
R4562:Mtmr10	UTSW	7	64314159	missense	possibly damaging	0.92
R5128:Mtmr10	UTSW	7	64333439	missense	probably damaging	1.00
R5203:Mtmr10	UTSW	7	64318161	missense	probably benign
R5444:Mtmr10	UTSW	7	64288401	splice site	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
R7863:Mtmr10	UTSW	7	64319457	missense	probably benign	0.03
R7939:Mtmr10	UTSW	7	64314151	missense	probably benign	0.19

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