Mutagenetix > Incidental Mutation

Incidental Mutation 'R6354:Mtmr11'

512946

Institutional Source

Beutler Lab

Gene Symbol

Mtmr11

Ensembl Gene

ENSMUSG00000045934

Gene Name

myotubularin related protein 11

Synonyms

MMRRC Submission

044506-MU

Accession Numbers

Essential gene?

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

Stock #

R6354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96069321-96079034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96075992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 406 (F406I)

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: F406I

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934
AA Change: F406I

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

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: ENSMUST00000199721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196004

Meta Mutation Damage Score

0.0680

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.5%
20x: 95.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,685,042 (GRCm39)	K152E	probably benign	Het
Adamts20	C	A	15: 94,245,691 (GRCm39)	C537F	probably damaging	Het
Apc	A	T	18: 34,445,581 (GRCm39)	T808S	probably benign	Het
Atad3a	A	G	4: 155,838,402 (GRCm39)	I205T	possibly damaging	Het
Casz1	G	T	4: 149,036,999 (GRCm39)	G1754C	unknown	Het
Ccdc62	C	T	5: 124,082,267 (GRCm39)	A232V	probably damaging	Het
Cdc27	C	A	11: 104,425,574 (GRCm39)	D81Y	probably damaging	Het
Cep126	A	G	9: 8,099,928 (GRCm39)	S869P	probably damaging	Het
Cfap251	C	T	5: 123,440,818 (GRCm39)	T1125I	probably damaging	Het
Ciita	A	T	16: 10,341,610 (GRCm39)	K983N	probably damaging	Het
Cimap1a	A	G	7: 140,430,527 (GRCm39)		probably null	Het
Clstn1	A	C	4: 149,727,673 (GRCm39)	Q523P	probably benign	Het
Cpb2	T	C	14: 75,495,145 (GRCm39)		probably null	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Csmd3	C	T	15: 47,744,885 (GRCm39)	G1370D	probably damaging	Het
Cwf19l1	G	T	19: 44,115,912 (GRCm39)	D172E	probably benign	Het
Cyp4a14	A	G	4: 115,344,441 (GRCm39)	F475L	probably damaging	Het
Fam98c	C	T	7: 28,852,272 (GRCm39)	V298M	probably damaging	Het
Gcsh	T	C	8: 117,710,582 (GRCm39)	N127S	probably benign	Het
Gimap4	T	C	6: 48,663,814 (GRCm39)	F10S	possibly damaging	Het
Gm4787	C	T	12: 81,424,755 (GRCm39)	A468T	probably damaging	Het
Gm5111	G	A	6: 48,567,268 (GRCm39)		probably benign	Het
Gm7137	C	A	10: 77,623,481 (GRCm39)		probably benign	Het
Inpp1	A	G	1: 52,836,224 (GRCm39)	S81P	probably damaging	Het
Iqce	T	C	5: 140,662,090 (GRCm39)		probably null	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,479,217 (GRCm39)		probably benign	Het
Krtap13	C	A	16: 88,548,131 (GRCm39)	C119F	probably damaging	Het
Lama2	G	T	10: 27,088,064 (GRCm39)	D904E	probably damaging	Het
Lrrc37a	T	A	11: 103,355,213 (GRCm39)	I2535F	unknown	Het
Lrrc40	T	A	3: 157,766,901 (GRCm39)	L452*	probably null	Het
Meis1	A	T	11: 18,966,184 (GRCm39)	M63K	possibly damaging	Het
Mpo	T	A	11: 87,688,172 (GRCm39)	I277N	possibly damaging	Het
Muc4	T	C	16: 32,575,476 (GRCm39)	S1411P	probably benign	Het
Or2y1b	A	T	11: 49,208,465 (GRCm39)	I31F	probably damaging	Het
Or4c102	T	A	2: 88,422,478 (GRCm39)	I110N	probably damaging	Het
Or56a5	G	A	7: 104,792,915 (GRCm39)	T195I	probably benign	Het
Phf21a	G	A	2: 92,179,282 (GRCm39)	G298R	probably damaging	Het
Phldb2	T	C	16: 45,645,477 (GRCm39)	Y368C	probably damaging	Het
Pik3cb	G	T	9: 98,955,696 (GRCm39)	T407K	probably benign	Het
Robo3	A	T	9: 37,328,513 (GRCm39)		probably benign	Het
Sgsm1	T	G	5: 113,430,522 (GRCm39)	T288P	probably damaging	Het
Slc5a7	A	G	17: 54,584,061 (GRCm39)	S410P	probably damaging	Het
Tmc6	A	C	11: 117,665,062 (GRCm39)	C404G	probably benign	Het
Tnrc6c	A	T	11: 117,640,440 (GRCm39)	Q1410L	possibly damaging	Het
Trak1	A	T	9: 121,280,792 (GRCm39)	T384S	probably null	Het
Txlna	A	T	4: 129,528,205 (GRCm39)	L244Q	probably damaging	Het
Ube3c	T	C	5: 29,868,581 (GRCm39)	F939L	probably damaging	Het
Vmn2r65	T	A	7: 84,589,574 (GRCm39)	I781F	probably benign	Het
Vmn2r72	A	G	7: 85,399,747 (GRCm39)		probably null	Het
Vps36	T	C	8: 22,695,771 (GRCm39)	S109P	probably damaging	Het
Wrn	T	C	8: 33,833,666 (GRCm39)	I82M	possibly damaging	Het
Zbtb49	T	C	5: 38,360,903 (GRCm39)	R511G	possibly damaging	Het
Zeb1	A	G	18: 5,772,743 (GRCm39)	T1011A	possibly damaging	Het
Zfhx4	T	C	3: 5,467,011 (GRCm39)	S2390P	probably benign	Het
Zfp619	C	A	7: 39,184,243 (GRCm39)	T91K	probably benign	Het
Zfp644	A	G	5: 106,784,619 (GRCm39)	S643P	probably benign	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
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'- TGCTTTCTCTGTGACAATGGC -3'
(R):5'- CCATTCAGACCGGGTTTGTG -3'

Sequencing Primer
(F):5'- CAATGGCTGTTTCTAGAAGTTGACTC -3'
(R):5'- CATTCAGACCGGGTTTGTGTCTAG -3'

Posted On

2018-04-27