Mutagenetix > Incidental Mutation

Incidental Mutation 'R5154:Mtmr11'

396561

Institutional Source

Beutler Lab

Gene Symbol

Mtmr11

Ensembl Gene

ENSMUSG00000045934

Gene Name

myotubularin related protein 11

Synonyms

MMRRC Submission

042736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R5154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96069321-96079034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 96071636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 185 (S185R)

Ref Sequence

ENSEMBL: ENSMUSP00000118258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035519] [ENSMUST00000054356] [ENSMUST00000090785] [ENSMUST00000098849] [ENSMUST00000129925]

AlphaFold

Q3V1L6

Predicted Effect

probably benign
Transcript: ENSMUST00000035519

SMART Domains

Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495

Domain	Start	End	E-Value	Type
PDB:2L2D\|A	1	59	1e-25	PDB
low complexity region	112	124	N/A	INTRINSIC
Pfam:OTU	189	359	4.9e-30	PFAM
low complexity region	482	498	N/A	INTRINSIC
low complexity region	527	558	N/A	INTRINSIC
low complexity region	821	836	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054356
AA Change: S185R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934
AA Change: S185R

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: ENSMUST00000090785

SMART Domains

Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495

Domain	Start	End	E-Value	Type
PDB:2L2D\|A	1	59	1e-25	PDB
low complexity region	112	124	N/A	INTRINSIC
Pfam:OTU	189	359	4.9e-30	PFAM
low complexity region	482	498	N/A	INTRINSIC
low complexity region	527	558	N/A	INTRINSIC
low complexity region	821	836	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098849

SMART Domains

Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495

Domain	Start	End	E-Value	Type
PDB:2L2D\|A	1	59	1e-25	PDB
low complexity region	112	124	N/A	INTRINSIC
Pfam:OTU	189	359	4.7e-27	PFAM
low complexity region	482	498	N/A	INTRINSIC
low complexity region	527	558	N/A	INTRINSIC
Pfam:zf-A20	797	821	6.3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123520

Predicted Effect

probably benign
Transcript: ENSMUST00000129925
AA Change: S185R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000118258
Gene: ENSMUSG00000045934
AA Change: S185R

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: ENSMUST00000154955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180958

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,938 (GRCm39)	H48P	probably damaging	Het
Angptl7	C	T	4: 148,581,882 (GRCm39)	R168H	probably damaging	Het
Ankrd11	A	C	8: 123,619,878 (GRCm39)	F1325V	probably damaging	Het
Ankrd13c	A	G	3: 157,694,297 (GRCm39)	D266G	possibly damaging	Het
Apold1	A	T	6: 134,960,636 (GRCm39)	H30L	possibly damaging	Het
Arel1	A	G	12: 84,978,547 (GRCm39)	F362L	probably benign	Het
Arhgef4	T	A	1: 34,771,455 (GRCm39)	M1254K	probably benign	Het
Arid2	T	A	15: 96,299,866 (GRCm39)	V1793E	probably damaging	Het
Bcl7a	T	C	5: 123,507,422 (GRCm39)	S156P	probably damaging	Het
Cbr3	A	G	16: 93,482,027 (GRCm39)	I128V	probably benign	Het
Cct6b	G	A	11: 82,630,521 (GRCm39)	P299L	probably damaging	Het
Cd180	A	T	13: 102,842,282 (GRCm39)	N443Y	probably damaging	Het
Cd80	A	G	16: 38,294,342 (GRCm39)	K75R	probably benign	Het
Cdk1	A	T	10: 69,176,298 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,983,755 (GRCm39)	F1565I	probably damaging	Het
Chtf18	T	C	17: 25,942,694 (GRCm39)	T412A	probably damaging	Het
Cit	T	C	5: 116,126,464 (GRCm39)	L1590P	probably damaging	Het
Clcn2	T	A	16: 20,522,053 (GRCm39)	R845S	probably benign	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Cnnm2	A	T	19: 46,751,571 (GRCm39)	R454W	probably benign	Het
Cpne8	T	G	15: 90,384,121 (GRCm39)	I480L	probably benign	Het
Cr2	A	G	1: 194,841,754 (GRCm39)	W400R	probably damaging	Het
Cul5	A	G	9: 53,537,167 (GRCm39)	L528P	probably damaging	Het
Dlgap5	C	T	14: 47,651,177 (GRCm39)	V119M	probably damaging	Het
Dnah12	T	C	14: 26,571,320 (GRCm39)	S190P	probably benign	Het
Dnah3	T	A	7: 119,551,642 (GRCm39)	K2881N	probably damaging	Het
Dnmt3a	A	T	12: 3,946,008 (GRCm39)	I288F	probably damaging	Het
Dse	T	A	10: 34,029,657 (GRCm39)	T478S	possibly damaging	Het
Edn1	C	T	13: 42,458,499 (GRCm39)	T104I	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eprs1	A	G	1: 185,145,662 (GRCm39)	H1157R	probably damaging	Het
Fam168b	G	A	1: 34,857,180 (GRCm39)	T179I	possibly damaging	Het
Fzd5	A	G	1: 64,775,131 (GRCm39)	V210A	probably benign	Het
Gm9742	T	C	13: 8,085,081 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Gpr141	C	T	13: 19,936,412 (GRCm39)	R121K	probably benign	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Grk3	A	T	5: 113,089,583 (GRCm39)	I281N	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,371 (GRCm39)	Y289*	probably null	Het
Hsf2	T	G	10: 57,380,808 (GRCm39)	V214G	probably benign	Het
Igf2bp1	G	A	11: 95,854,373 (GRCm39)	Q563*	probably null	Het
Il31ra	T	A	13: 112,660,531 (GRCm39)	D605V	possibly damaging	Het
Insm2	G	A	12: 55,646,982 (GRCm39)	C242Y	probably damaging	Het
Ints3	C	T	3: 90,322,868 (GRCm39)	V121I	probably benign	Het
Kcnt2	A	T	1: 140,278,994 (GRCm39)	L48F	possibly damaging	Het
Kit	G	A	5: 75,801,200 (GRCm39)	V529M	probably damaging	Het
Mark2	G	A	19: 7,260,439 (GRCm39)	P13S	probably damaging	Het
Mthfsd	A	G	8: 121,825,479 (GRCm39)	V364A	probably damaging	Het
Myot	A	G	18: 44,487,281 (GRCm39)	I373V	probably benign	Het
N4bp3	A	T	11: 51,536,139 (GRCm39)	V231D	probably benign	Het
Or5t17	T	C	2: 86,832,382 (GRCm39)	V23A	probably benign	Het
Or8k39	A	T	2: 86,563,121 (GRCm39)	Y278*	probably null	Het
Pdcd6ip	A	G	9: 113,520,610 (GRCm39)	F125L	probably damaging	Het
Prpf39	A	T	12: 65,095,051 (GRCm39)	Q124L	probably benign	Het
Reln	A	T	5: 22,193,763 (GRCm39)	N1398K	probably damaging	Het
Rhod	A	T	19: 4,482,122 (GRCm39)	D97E	probably damaging	Het
Rxra	T	C	2: 27,647,880 (GRCm39)		probably null	Het
Slc1a3	T	C	15: 8,672,433 (GRCm39)	I349V	probably benign	Het
Slc37a2	A	T	9: 37,142,939 (GRCm39)	*502R	probably null	Het
Slc9b1	T	C	3: 135,078,940 (GRCm39)	I199T	probably damaging	Het
Spart	C	T	3: 55,024,750 (GRCm39)	P115L	probably damaging	Het
Tnpo1	A	T	13: 99,006,813 (GRCm39)	C205S	possibly damaging	Het
Tubb1	T	A	2: 174,298,657 (GRCm39)	I113N	probably benign	Het
Tyrp1	G	A	4: 80,768,954 (GRCm39)	V483I	probably benign	Het
Vwde	T	C	6: 13,215,757 (GRCm39)	S100G	probably benign	Het
Zfhx3	A	T	8: 109,527,207 (GRCm39)	I1035F	probably damaging	Het
Zfp618	G	T	4: 63,051,446 (GRCm39)	K742N	probably damaging	Het
Zfp873	T	C	10: 81,896,025 (GRCm39)	V252A	possibly damaging	Het

Other mutations in Mtmr11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02539:Mtmr11	APN	3	96,072,308 (GRCm39)	intron	probably benign
R1017:Mtmr11	UTSW	3	96,071,794 (GRCm39)	missense	probably damaging	1.00
R1589:Mtmr11	UTSW	3	96,075,429 (GRCm39)	missense	probably benign	0.16
R1836:Mtmr11	UTSW	3	96,072,103 (GRCm39)	missense	probably damaging	0.98
R2264:Mtmr11	UTSW	3	96,076,413 (GRCm39)	missense	possibly damaging	0.53
R3623:Mtmr11	UTSW	3	96,072,583 (GRCm39)	missense	probably damaging	1.00
R4195:Mtmr11	UTSW	3	96,075,207 (GRCm39)	splice site	probably benign
R4243:Mtmr11	UTSW	3	96,075,393 (GRCm39)	missense	probably damaging	1.00
R4245:Mtmr11	UTSW	3	96,075,393 (GRCm39)	missense	probably damaging	1.00
R4414:Mtmr11	UTSW	3	96,075,207 (GRCm39)	splice site	probably benign
R4417:Mtmr11	UTSW	3	96,075,207 (GRCm39)	splice site	probably benign
R4461:Mtmr11	UTSW	3	96,075,207 (GRCm39)	splice site	probably benign
R4468:Mtmr11	UTSW	3	96,075,207 (GRCm39)	splice site	probably benign
R4963:Mtmr11	UTSW	3	96,070,567 (GRCm39)	intron	probably benign
R5134:Mtmr11	UTSW	3	96,077,223 (GRCm39)	missense	probably damaging	1.00
R5508:Mtmr11	UTSW	3	96,071,084 (GRCm39)	missense	probably damaging	1.00
R5821:Mtmr11	UTSW	3	96,075,185 (GRCm39)	missense	possibly damaging	0.91
R5868:Mtmr11	UTSW	3	96,078,518 (GRCm39)	missense	possibly damaging	0.65
R5991:Mtmr11	UTSW	3	96,075,905 (GRCm39)	splice site	probably null
R6084:Mtmr11	UTSW	3	96,075,400 (GRCm39)	missense	probably damaging	0.99
R6354:Mtmr11	UTSW	3	96,075,992 (GRCm39)	missense	probably benign	0.07
R6446:Mtmr11	UTSW	3	96,078,504 (GRCm39)	missense	probably benign	0.00
R6821:Mtmr11	UTSW	3	96,077,723 (GRCm39)	missense	probably benign
R7033:Mtmr11	UTSW	3	96,077,262 (GRCm39)	missense	probably damaging	1.00
R7312:Mtmr11	UTSW	3	96,071,855 (GRCm39)	missense	possibly damaging	0.68
R7878:Mtmr11	UTSW	3	96,076,515 (GRCm39)	missense	probably benign	0.00
R7899:Mtmr11	UTSW	3	96,077,744 (GRCm39)	missense	probably damaging	1.00
R8479:Mtmr11	UTSW	3	96,071,051 (GRCm39)	missense	probably damaging	1.00
R8923:Mtmr11	UTSW	3	96,072,188 (GRCm39)	missense	probably damaging	1.00
R9376:Mtmr11	UTSW	3	96,072,372 (GRCm39)	missense	probably benign
R9708:Mtmr11	UTSW	3	96,076,403 (GRCm39)	missense	possibly damaging	0.93
X0019:Mtmr11	UTSW	3	96,071,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCACCTACCACTTGTGG -3'
(R):5'- TTCCCAGTCTTCTAAAGTCTCCAAG -3'

Sequencing Primer
(F):5'- ACCTACCACTTGTGGAGGTC -3'
(R):5'- CAGTCTTCTAAAGTCTCCAAGAGAGG -3'

Posted On

2016-06-21