Mutagenetix > Incidental Mutations

Incidental Mutation 'R4417:Mtmr11'

326870

Institutional Source

Beutler Lab

Gene Symbol

Mtmr11

Ensembl Gene

ENSMUSG00000045934

Gene Name

myotubularin related protein 11

Synonyms

MMRRC Submission

041138-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R4417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96162004-96171718 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 96167891 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054356] [ENSMUST00000076372] [ENSMUST00000129925]

Predicted Effect

probably benign
Transcript: ENSMUST00000054356

SMART Domains

Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	191	323	1.7e-12	PFAM
Pfam:Myotub-related	312	488	1.3e-44	PFAM
Pfam:3-PAP	550	683	2.3e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076372

SMART Domains

Protein: ENSMUSP00000075709
Gene: ENSMUSG00000068856

Domain	Start	End	E-Value	Type
RRM	14	87	1.46e-25	SMART
RRM	101	175	5.07e-25	SMART
low complexity region	214	307	N/A	INTRINSIC
low complexity region	310	423	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123520

Predicted Effect

probably benign
Transcript: ENSMUST00000129925

SMART Domains

Protein: ENSMUSP00000118258
Gene: ENSMUSG00000045934

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	162	264	4.2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199721

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
A630001G21Rik	T	A	1: 85,726,463	Y51F	probably damaging	Het
Abi3bp	C	A	16: 56,654,035	T631K	probably damaging	Het
BC004004	G	A	17: 29,282,275		probably benign	Het
Cabp1	G	A	5: 115,186,037	S7L	possibly damaging	Het
Cdc23	ACC	AC	18: 34,637,318		probably null	Het
Clhc1	T	C	11: 29,571,826	I453T	possibly damaging	Het
Col28a1	T	A	6: 8,175,666	I61F	possibly damaging	Het
Col2a1	T	C	15: 97,998,585	E61G	unknown	Het
Col6a4	C	T	9: 106,072,016	V807I	probably damaging	Het
Crhbp	T	C	13: 95,443,877	S65G	probably benign	Het
Dnah9	T	A	11: 65,981,214	Q2730L	possibly damaging	Het
Epx	T	A	11: 87,869,430	R453*	probably null	Het
Fez1	T	C	9: 36,870,472		probably benign	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Glp2r	T	C	11: 67,664,516		probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Gpm6a	T	A	8: 55,050,188	N157K	probably damaging	Het
Kcnj2	T	C	11: 111,072,189	S136P	probably damaging	Het
Lad1	A	G	1: 135,828,746	D364G	probably benign	Het
Lcp2	G	T	11: 34,050,917	E33D	probably benign	Het
Lrrc32	G	T	7: 98,498,937	R308L	probably benign	Het
Matr3	C	A	18: 35,572,118	A32D	probably damaging	Het
Mfsd12	A	G	10: 81,364,703		probably benign	Het
Notch2	A	G	3: 98,131,270	D1243G	possibly damaging	Het
Odf2	T	A	2: 29,915,321		probably benign	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr1233	T	C	2: 89,339,987	E105G	probably benign	Het
Pitpnm2	G	T	5: 124,123,569	R977S	probably damaging	Het
Prdm13	T	C	4: 21,678,756	E578G	probably benign	Het
Pum3	A	G	19: 27,422,716	I183T	probably damaging	Het
Rdh14	G	A	12: 10,391,231		probably null	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Slit1	A	G	19: 41,614,469	C968R	probably damaging	Het
Spag9	A	T	11: 94,060,346		probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Stradb	T	C	1: 58,994,372	V398A	probably benign	Het
Tlr4	A	T	4: 66,839,303	N111I	probably damaging	Het
Tnip2	G	A	5: 34,503,581	R176*	probably null	Het
Tomm7	A	G	5: 23,843,979	I32T	probably benign	Het
Trank1	T	C	9: 111,365,968	I1020T	probably benign	Het
Ugt1a10	T	G	1: 88,055,995	S172A	probably benign	Het
Vmn2r115	T	A	17: 23,345,880	M247K	probably benign	Het
Zfp341	T	C	2: 154,628,987	L308P	possibly damaging	Het
Zmym6	T	C	4: 127,092,988	S154P	probably damaging	Het

Other mutations in Mtmr11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02539:Mtmr11	APN	3	96164991	intron	probably benign
R1017:Mtmr11	UTSW	3	96164477	missense	probably damaging	1.00
R1589:Mtmr11	UTSW	3	96168113	missense	probably benign	0.16
R1836:Mtmr11	UTSW	3	96164786	missense	probably damaging	0.98
R2264:Mtmr11	UTSW	3	96169097	missense	possibly damaging	0.53
R3623:Mtmr11	UTSW	3	96165266	missense	probably damaging	1.00
R4195:Mtmr11	UTSW	3	96167891	splice site	probably benign
R4243:Mtmr11	UTSW	3	96168077	missense	probably damaging	1.00
R4245:Mtmr11	UTSW	3	96168077	missense	probably damaging	1.00
R4414:Mtmr11	UTSW	3	96167891	splice site	probably benign
R4461:Mtmr11	UTSW	3	96167891	splice site	probably benign
R4468:Mtmr11	UTSW	3	96167891	splice site	probably benign
R4963:Mtmr11	UTSW	3	96163250	intron	probably benign
R5134:Mtmr11	UTSW	3	96169907	missense	probably damaging	1.00
R5154:Mtmr11	UTSW	3	96164319	missense	probably benign	0.03
R5508:Mtmr11	UTSW	3	96163767	missense	probably damaging	1.00
R5821:Mtmr11	UTSW	3	96167869	missense	possibly damaging	0.91
R5868:Mtmr11	UTSW	3	96171202	missense	possibly damaging	0.65
R5991:Mtmr11	UTSW	3	96168589	unclassified	probably null
R6084:Mtmr11	UTSW	3	96168084	missense	probably damaging	0.99
R6354:Mtmr11	UTSW	3	96168676	missense	probably benign	0.07
R6446:Mtmr11	UTSW	3	96171188	missense	probably benign	0.00
R6821:Mtmr11	UTSW	3	96170407	missense	probably benign
R7033:Mtmr11	UTSW	3	96169946	missense	probably damaging	1.00
R7312:Mtmr11	UTSW	3	96164538	missense	possibly damaging	0.68
R7878:Mtmr11	UTSW	3	96169199	missense	probably benign	0.00
R7899:Mtmr11	UTSW	3	96170428	missense	probably damaging	1.00
R7961:Mtmr11	UTSW	3	96169199	missense	probably benign	0.00
R7982:Mtmr11	UTSW	3	96170428	missense	probably damaging	1.00
X0019:Mtmr11	UTSW	3	96164492	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCAGACTTCTTATCCCATCTG -3'
(R):5'- CTGGAAGGGCGTGTGATGAA -3'

Sequencing Primer
(F):5'- CATAGTCAGCTGCTGTGGACAATC -3'
(R):5'- TGATGAAGAAGGGAGTAATGTATTGG -3'

Posted On

2015-07-07