Mutagenetix > Incidental Mutation

Incidental Mutation 'R7878:Mtmr11'

608560

Institutional Source

Beutler Lab

Gene Symbol

Mtmr11

Ensembl Gene

ENSMUSG00000045934

Gene Name

myotubularin related protein 11

Synonyms

MMRRC Submission

045930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R7878 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96069321-96079034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96076515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 490 (K490R)

Ref Sequence

ENSEMBL: ENSMUSP00000062341 (fasta)

Gene Model

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

AlphaFold

Q3V1L6

Predicted Effect

probably benign
Transcript: ENSMUST00000054356
AA Change: K490R

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

SMART Domains

Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934
AA Change: K490R

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	A	10: 20,857,330 (GRCm39)		probably null	Het
Ak7	T	A	12: 105,733,008 (GRCm39)	I584N	probably damaging	Het
Akip1	A	T	7: 109,306,609 (GRCm39)	Y102F	probably damaging	Het
Alg9	T	C	9: 50,754,083 (GRCm39)	Y588H	probably benign	Het
Arid1a	A	T	4: 133,414,582 (GRCm39)	N831K	unknown	Het
Bcl2l11	T	A	2: 127,970,608 (GRCm39)	L19*	probably null	Het
Btn1a1	T	C	13: 23,643,214 (GRCm39)	T412A	possibly damaging	Het
Ccbe1	T	C	18: 66,209,462 (GRCm39)	N193D	possibly damaging	Het
Ccdc168	T	C	1: 44,095,174 (GRCm39)	S1975G	probably benign	Het
Cd96	A	G	16: 45,938,139 (GRCm39)	S109P	probably damaging	Het
Cdh23	A	C	10: 60,149,979 (GRCm39)	I2622S	possibly damaging	Het
Cmya5	G	T	13: 93,226,265 (GRCm39)	T2941K	probably damaging	Het
Cntn1	T	C	15: 92,192,934 (GRCm39)	Y679H	probably damaging	Het
Cpsf1	A	G	15: 76,484,700 (GRCm39)	V619A	probably damaging	Het
Elp5	T	A	11: 69,861,425 (GRCm39)	I185F	probably damaging	Het
Frem1	A	G	4: 82,938,917 (GRCm39)	V55A	probably benign	Het
Kif1b	A	T	4: 149,299,454 (GRCm39)	Y985N	probably damaging	Het
Lao1	A	G	4: 118,824,619 (GRCm39)	N234D	probably benign	Het
Lima1	C	T	15: 99,717,431 (GRCm39)	V192I	probably benign	Het
Lrp2	T	G	2: 69,338,153 (GRCm39)	D1209A	probably damaging	Het
Lrp2	C	A	2: 69,338,154 (GRCm39)	D1209Y	probably damaging	Het
Luzp1	A	G	4: 136,269,163 (GRCm39)	H462R	probably benign	Het
Mab21l1	A	T	3: 55,691,438 (GRCm39)	T342S	probably benign	Het
Mst1	T	C	9: 107,961,812 (GRCm39)	V657A	probably benign	Het
Myh3	A	G	11: 66,978,077 (GRCm39)	D383G	probably damaging	Het
Nectin1	G	A	9: 43,715,198 (GRCm39)	G478D	probably benign	Het
Nrip1	A	G	16: 76,091,554 (GRCm39)	M1T	probably null	Het
Odad1	A	G	7: 45,573,984 (GRCm39)	E17G	possibly damaging	Het
Odad2	G	T	18: 7,217,801 (GRCm39)	H638N	probably benign	Het
Or1j10	A	G	2: 36,267,145 (GRCm39)	D119G	probably damaging	Het
Or52z15	A	T	7: 103,332,471 (GRCm39)	H182L	probably damaging	Het
Pnisr	C	A	4: 21,874,370 (GRCm39)	F704L	unknown	Het
Ptpn21	T	A	12: 98,681,387 (GRCm39)	K82N	probably damaging	Het
Pyroxd2	T	G	19: 42,731,104 (GRCm39)		probably null	Het
Pzp	A	G	6: 128,489,274 (GRCm39)	S446P	possibly damaging	Het
Rbck1	T	A	2: 152,160,330 (GRCm39)	I450F	probably damaging	Het
Rnase4	T	A	14: 51,342,333 (GRCm39)	L19Q	probably damaging	Het
Rrp9	A	G	9: 106,358,516 (GRCm39)	E118G	probably damaging	Het
Sec22a	A	G	16: 35,168,005 (GRCm39)	S169P	probably benign	Het
Sema5b	G	A	16: 35,481,996 (GRCm39)	S957N	probably benign	Het
Serpina3g	A	T	12: 104,204,361 (GRCm39)		probably benign	Het
Skint2	A	T	4: 112,506,942 (GRCm39)	I322F	possibly damaging	Het
Spata31h1	G	A	10: 82,119,856 (GRCm39)	R4385W	probably benign	Het
Sspo	G	A	6: 48,469,460 (GRCm39)	C4471Y	probably damaging	Het
Stk16	T	A	1: 75,189,589 (GRCm39)	L167*	probably null	Het
Tanc2	G	A	11: 105,804,241 (GRCm39)	R245H		Het
Tdpoz1	G	A	3: 93,578,431 (GRCm39)	Q118*	probably null	Het
Tekt3	C	T	11: 62,961,277 (GRCm39)	R149*	probably null	Het
Tenm4	A	G	7: 96,501,564 (GRCm39)	E1256G	probably damaging	Het
Tie1	G	A	4: 118,335,621 (GRCm39)	R791C	probably damaging	Het
Tpr	T	A	1: 150,299,411 (GRCm39)	S1204T	possibly damaging	Het
Trim28	G	T	7: 12,758,289 (GRCm39)		probably benign	Het
Ucp1	A	G	8: 84,024,521 (GRCm39)	N282S	probably benign	Het
Unc80	T	A	1: 66,640,300 (GRCm39)	D1402E	possibly damaging	Het
Vmn1r69	T	A	7: 10,314,717 (GRCm39)	T5S	probably benign	Het
Zfyve28	T	A	5: 34,356,999 (GRCm39)	K733M	probably 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
R5154:Mtmr11	UTSW	3	96,071,636 (GRCm39)	missense	probably benign	0.03
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
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'- TGTCAGGTGCTTGCAGACAC -3'
(R):5'- AAACCAGTTTGTGTCCCTGTCC -3'

Sequencing Primer
(F):5'- GCTTGCAGACACCCCCATG -3'
(R):5'- GTCCCTGTCCTACACCTGGAAC -3'

Posted On

2019-12-20