Mutagenetix > Incidental Mutation

Incidental Mutation 'R9708:Mtmr11'

729884

Institutional Source

Beutler Lab

Gene Symbol

Mtmr11

Ensembl Gene

ENSMUSG00000045934

Gene Name

myotubularin related protein 11

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9708 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96069321-96079034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96076403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 453 (F453L)

Ref Sequence

ENSEMBL: ENSMUSP00000062341 (fasta)

Gene Model

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

AlphaFold

Q3V1L6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054356
AA Change: F453L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934
AA Change: F453L

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: 99.9%
3x: 99.8%
10x: 99.1%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,254,417 (GRCm39)	N576I	probably damaging	Het
Acss1	G	T	2: 150,471,752 (GRCm39)	T334K	probably damaging	Het
Alox5	A	G	6: 116,392,537 (GRCm39)	L328P	probably damaging	Het
Armc2	A	T	10: 41,839,744 (GRCm39)	M407K	possibly damaging	Het
Asb3	A	T	11: 31,051,075 (GRCm39)	I471F	probably benign	Het
Asph	G	A	4: 9,542,233 (GRCm39)	R335W	probably damaging	Het
B4galnt4	A	G	7: 140,647,657 (GRCm39)	E415G	probably benign	Het
Btn2a2	G	A	13: 23,662,907 (GRCm39)	P348S	possibly damaging	Het
Catsper2	A	G	2: 121,237,321 (GRCm39)	V193A	possibly damaging	Het
Ccdc112	G	A	18: 46,444,780 (GRCm39)	A33V	probably benign	Het
Cfap221	T	A	1: 119,860,619 (GRCm39)	Y669F	probably damaging	Het
D030056L22Rik	T	G	19: 18,690,776 (GRCm39)	L30R	possibly damaging	Het
Fanca	C	A	8: 124,001,263 (GRCm39)	G1091*	probably null	Het
Foxl1	A	G	8: 121,855,077 (GRCm39)	D126G	possibly damaging	Het
Gba1	T	C	3: 89,112,801 (GRCm39)	S148P	probably damaging	Het
Gem	G	A	4: 11,711,154 (GRCm39)	R115H	possibly damaging	Het
Gm4924	T	G	10: 82,214,992 (GRCm39)	L930R	unknown	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Irx5	A	T	8: 93,087,118 (GRCm39)	D350V	probably benign	Het
Kng2	G	T	16: 22,815,801 (GRCm39)	P365Q	probably damaging	Het
Lrp4	A	T	2: 91,342,076 (GRCm39)	E1896D	probably benign	Het
Lrrk2	C	A	15: 91,634,482 (GRCm39)	Y1415*	probably null	Het
Map2k7	C	A	8: 4,295,806 (GRCm39)	H429N	probably benign	Het
Mogat1	T	A	1: 78,488,633 (GRCm39)	L12Q	probably damaging	Het
Mov10	C	T	3: 104,704,613 (GRCm39)	R766H	probably benign	Het
Mthfr	G	T	4: 148,128,978 (GRCm39)	E225*	probably null	Het
Naip2	T	C	13: 100,298,087 (GRCm39)	N650D	probably damaging	Het
Nek3	C	T	8: 22,618,742 (GRCm39)	G497R	unknown	Het
Nol4	G	T	18: 22,828,053 (GRCm39)	A337E	probably damaging	Het
Nrxn2	A	G	19: 6,581,882 (GRCm39)	T1606A	probably benign	Het
Odad2	G	T	18: 7,288,633 (GRCm39)	T78K	probably benign	Het
Or2ab1	G	A	11: 58,488,927 (GRCm39)	R229H	probably benign	Het
Or4a71	T	C	2: 89,358,214 (GRCm39)	N180S	probably benign	Het
Or5b124	G	A	19: 13,610,760 (GRCm39)	C95Y	probably damaging	Het
Or5p6	T	C	7: 107,631,259 (GRCm39)	Y97C	probably benign	Het
Paox	C	T	7: 139,712,359 (GRCm39)	R197*	probably null	Het
Pcdha8	A	G	18: 37,125,548 (GRCm39)	D10G	probably benign	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Phkb	T	G	8: 86,783,119 (GRCm39)	S972A	probably benign	Het
Pik3c2g	T	A	6: 139,606,865 (GRCm39)	M304K	probably benign	Het
Rnf144b	A	G	13: 47,397,912 (GRCm39)	I281V	probably damaging	Het
Robo2	C	T	16: 73,770,197 (GRCm39)	G509E	possibly damaging	Het
Sap30l	A	G	11: 57,696,936 (GRCm39)	R89G	probably damaging	Het
Scrn2	C	T	11: 96,922,928 (GRCm39)	R124W	probably damaging	Het
Shcbp1l	A	T	1: 153,328,011 (GRCm39)	N574I	probably damaging	Het
Slfn8	T	C	11: 82,894,267 (GRCm39)	I791V	probably benign	Het
Stard13	C	T	5: 150,986,961 (GRCm39)	S183N	possibly damaging	Het
Tent5a	A	G	9: 85,207,267 (GRCm39)	M177T	possibly damaging	Het
Tpbg	A	G	9: 85,726,574 (GRCm39)	N181S	probably benign	Het
Tsc22d1	T	A	14: 76,654,664 (GRCm39)	V381D	possibly damaging	Het
Uhrf1	A	G	17: 56,629,357 (GRCm39)	D735G	probably benign	Het
Vmn2r13	T	A	5: 109,322,007 (GRCm39)	D230V	probably benign	Het
Vwf	T	A	6: 125,634,053 (GRCm39)	V2116E		Het
Zfp616	G	A	11: 73,976,283 (GRCm39)	G851S	probably damaging	Het
Zranb1	G	T	7: 132,584,600 (GRCm39)	E623*	probably null	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
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
X0019:Mtmr11	UTSW	3	96,071,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAACCCGGTCTGAATGG -3'
(R):5'- TCCAAAGTTTGAAATGCTCAACAGG -3'

Sequencing Primer
(F):5'- CTCAGGAGAGTCAGCCTTGAAC -3'
(R):5'- TGCTCAACAGGAACAAATTAAAAAG -3'

Posted On

2022-10-06