Mutagenetix > Incidental Mutation

Incidental Mutation 'R1512:Myot'

168458

Institutional Source

Beutler Lab

Gene Symbol

Myot

Ensembl Gene

ENSMUSG00000024471

Gene Name

myotilin

Synonyms

5530402I04Rik, Ttid

MMRRC Submission

039559-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44467141-44488791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44475422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 181 (E181G)

Ref Sequence

ENSEMBL: ENSMUSP00000111160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025349] [ENSMUST00000115498]

AlphaFold

Q9JIF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000025349
AA Change: E181G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025349
Gene: ENSMUSG00000024471
AA Change: E181G

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC
IG	254	339	5.84e-5	SMART
IGc2	359	428	5.53e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115498
AA Change: E181G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111160
Gene: ENSMUSG00000024471
AA Change: E181G

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC
IG	254	339	5.84e-5	SMART
IGc2	359	428	5.53e-6	SMART

Meta Mutation Damage Score

0.1582

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

95% (79/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile with normal skeletal and cardiac muscle morphology and function, growth rate, survival, and internal organ morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,086,295 (GRCm39)	D40E	probably benign	Het
Acsf2	C	T	11: 94,452,224 (GRCm39)		probably benign	Het
Adamts19	C	T	18: 59,181,917 (GRCm39)	H1119Y	possibly damaging	Het
Akap6	A	G	12: 52,983,937 (GRCm39)	D827G	probably damaging	Het
Ankrd33b	T	C	15: 31,367,375 (GRCm39)	D55G	probably damaging	Het
Ano5	T	A	7: 51,229,316 (GRCm39)	H569Q	probably benign	Het
Aox1	A	G	1: 58,346,510 (GRCm39)	D548G	probably benign	Het
Baz2a	A	G	10: 127,960,021 (GRCm39)	D1433G	possibly damaging	Het
BC031181	T	G	18: 75,141,767 (GRCm39)	V8G	probably damaging	Het
Bicdl2	A	T	17: 23,887,083 (GRCm39)	M457L	probably damaging	Het
C130074G19Rik	T	C	1: 184,615,103 (GRCm39)	D29G	probably damaging	Het
Cd200r1	A	T	16: 44,586,390 (GRCm39)	T7S	probably benign	Het
Cdc37	A	G	9: 21,053,712 (GRCm39)		probably benign	Het
Cmtr2	T	C	8: 110,949,267 (GRCm39)	S526P	probably damaging	Het
Cntn2	G	T	1: 132,451,430 (GRCm39)	A433D	probably damaging	Het
Cntnap5a	T	C	1: 115,828,680 (GRCm39)	S35P	probably benign	Het
Csf3r	A	G	4: 125,923,777 (GRCm39)	T96A	possibly damaging	Het
Ctbs	A	G	3: 146,160,720 (GRCm39)	N96D	probably benign	Het
Cyp26b1	C	A	6: 84,553,979 (GRCm39)	V213L	probably benign	Het
Dach1	A	G	14: 98,138,835 (GRCm39)	L536P	probably damaging	Het
Dcaf6	T	C	1: 165,179,589 (GRCm39)	Q517R	probably benign	Het
Dnah1	G	T	14: 31,014,994 (GRCm39)	Q1733K	probably damaging	Het
Dnah17	A	T	11: 117,985,841 (GRCm39)	I1416N	probably benign	Het
Dock11	G	A	X: 35,283,688 (GRCm39)	R1102H	probably damaging	Het
Dpp8	T	C	9: 64,971,096 (GRCm39)		probably benign	Het
Emc1	G	A	4: 139,087,495 (GRCm39)		probably null	Het
Emc8	A	G	8: 121,384,983 (GRCm39)	L76P	possibly damaging	Het
Emx2	T	C	19: 59,448,035 (GRCm39)	Y130H	possibly damaging	Het
Fbf1	C	T	11: 116,038,753 (GRCm39)	R815Q	probably damaging	Het
Foxb2	G	A	19: 16,849,878 (GRCm39)	P376L	probably damaging	Het
Gabrb1	C	A	5: 72,266,047 (GRCm39)	L202I	probably damaging	Het
Gabrb1	T	A	5: 72,266,048 (GRCm39)	L202Q	probably damaging	Het
Grin2c	T	A	11: 115,144,676 (GRCm39)	I617F	probably damaging	Het
Gtf2h3	T	A	5: 124,728,933 (GRCm39)	V164E	probably damaging	Het
Gusb	T	C	5: 130,029,731 (GRCm39)	Q88R	probably damaging	Het
Hormad2	T	A	11: 4,374,788 (GRCm39)	K75N	probably damaging	Het
Il33	A	G	19: 29,929,390 (GRCm39)	T38A	possibly damaging	Het
Ivns1abp	A	T	1: 151,236,687 (GRCm39)	Q416L	possibly damaging	Het
Ivns1abp	G	C	1: 151,236,688 (GRCm39)	Q416H	probably benign	Het
Kcnh5	T	A	12: 75,166,711 (GRCm39)	H178L	probably benign	Het
Kif21b	A	G	1: 136,080,543 (GRCm39)	N579S	probably benign	Het
Kif26a	G	C	12: 112,113,389 (GRCm39)	R95P	possibly damaging	Het
Kl	A	G	5: 150,912,062 (GRCm39)	I604V	probably benign	Het
Klhl24	A	G	16: 19,941,686 (GRCm39)	K545E	probably damaging	Het
Mcm3ap	A	G	10: 76,306,347 (GRCm39)	I153M	probably damaging	Het
Meis1	T	G	11: 18,831,682 (GRCm39)	D452A	probably damaging	Het
Msantd4	C	T	9: 4,384,138 (GRCm39)	P153L	probably benign	Het
Nf1	T	C	11: 79,281,195 (GRCm39)	F150S	probably damaging	Het
Nyap2	T	A	1: 81,219,566 (GRCm39)	S529R	probably damaging	Het
Or10d3	T	C	9: 39,461,390 (GRCm39)	Y259C	probably damaging	Het
Or12e10	A	T	2: 87,640,988 (GRCm39)	T275S	probably benign	Het
Or2y1c	A	G	11: 49,361,286 (GRCm39)	I103V	probably benign	Het
Or8b56	T	A	9: 38,739,660 (GRCm39)	Y224*	probably null	Het
Pcnt	C	T	10: 76,240,496 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,455,289 (GRCm39)		probably null	Het
Pkdcc	A	T	17: 83,527,473 (GRCm39)	Y217F	possibly damaging	Het
Pnpla6	C	A	8: 3,585,459 (GRCm39)		probably benign	Het
Polr3gl	T	C	3: 96,488,190 (GRCm39)	M26V	probably benign	Het
Ppp1r13b	T	C	12: 111,838,842 (GRCm39)	N12S	possibly damaging	Het
Ppp1r26	G	A	2: 28,341,528 (GRCm39)	R386K	probably benign	Het
Prdm10	A	G	9: 31,248,697 (GRCm39)	E355G	probably damaging	Het
Prex2	T	C	1: 11,131,554 (GRCm39)	F41S	possibly damaging	Het
Prkar1b	G	T	5: 139,036,428 (GRCm39)	Y231*	probably null	Het
Prkdc	A	T	16: 15,505,268 (GRCm39)	I857L	probably benign	Het
Psg21	A	T	7: 18,390,425 (GRCm39)	N10K	probably benign	Het
Rapgef3	A	T	15: 97,655,382 (GRCm39)	V444E	probably benign	Het
Rnf17	A	T	14: 56,705,243 (GRCm39)	T716S	probably benign	Het
Rps6ka1	C	T	4: 133,578,315 (GRCm39)	R577H	probably damaging	Het
Scn1a	A	C	2: 66,161,629 (GRCm39)	N306K	possibly damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Ssu2	A	G	6: 112,364,959 (GRCm39)	M1T	probably null	Het
Stag3	A	T	5: 138,296,247 (GRCm39)	T437S	probably benign	Het
Tal2	A	G	4: 53,786,107 (GRCm39)	Y96C	probably benign	Het
Thoc3	A	T	13: 54,613,991 (GRCm39)		probably null	Het
Tle1	T	C	4: 72,059,495 (GRCm39)	D19G	probably damaging	Het
Trpm4	A	G	7: 44,964,468 (GRCm39)	I690T	probably benign	Het
Trpm6	A	T	19: 18,853,295 (GRCm39)	M1772L	probably benign	Het
Unc5b	G	A	10: 60,667,254 (GRCm39)		probably benign	Het
Usf3	G	T	16: 44,041,561 (GRCm39)	V2014F	probably damaging	Het
Utp18	C	T	11: 93,776,390 (GRCm39)	A32T	probably benign	Het
Wdfy4	A	G	14: 32,682,765 (GRCm39)	V2981A	probably damaging	Het
Zfp608	A	G	18: 55,079,738 (GRCm39)	V349A	probably damaging	Het
Znfx1	A	C	2: 166,898,237 (GRCm39)	I229S	probably benign	Het

Other mutations in Myot

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Myot	APN	18	44,470,181 (GRCm39)	missense	possibly damaging	0.85
IGL02117:Myot	APN	18	44,488,177 (GRCm39)	missense	probably benign	0.36
IGL02812:Myot	APN	18	44,479,127 (GRCm39)	missense	probably damaging	1.00
R0178:Myot	UTSW	18	44,470,053 (GRCm39)	missense	probably damaging	1.00
R1620:Myot	UTSW	18	44,470,125 (GRCm39)	missense	possibly damaging	0.48
R2140:Myot	UTSW	18	44,487,192 (GRCm39)	missense	possibly damaging	0.53
R2234:Myot	UTSW	18	44,487,339 (GRCm39)	missense	probably damaging	0.98
R2235:Myot	UTSW	18	44,487,339 (GRCm39)	missense	probably damaging	0.98
R2568:Myot	UTSW	18	44,470,283 (GRCm39)	missense	probably benign	0.02
R3702:Myot	UTSW	18	44,487,162 (GRCm39)	splice site	probably null
R4967:Myot	UTSW	18	44,487,995 (GRCm39)	missense	possibly damaging	0.68
R5154:Myot	UTSW	18	44,487,281 (GRCm39)	missense	probably benign
R5250:Myot	UTSW	18	44,479,137 (GRCm39)	missense	probably damaging	1.00
R5322:Myot	UTSW	18	44,487,216 (GRCm39)	missense	probably benign	0.05
R7110:Myot	UTSW	18	44,474,453 (GRCm39)	missense	probably damaging	1.00
R7385:Myot	UTSW	18	44,470,075 (GRCm39)	nonsense	probably null
R7529:Myot	UTSW	18	44,479,240 (GRCm39)	nonsense	probably null
R7899:Myot	UTSW	18	44,487,251 (GRCm39)	missense	probably benign	0.01
R8006:Myot	UTSW	18	44,487,904 (GRCm39)	missense	probably damaging	1.00
R8179:Myot	UTSW	18	44,487,197 (GRCm39)	nonsense	probably null
R8296:Myot	UTSW	18	44,475,416 (GRCm39)	missense	probably damaging	1.00
R8367:Myot	UTSW	18	44,470,166 (GRCm39)	missense	probably benign	0.03
R8398:Myot	UTSW	18	44,487,883 (GRCm39)	missense	probably benign	0.01
R9249:Myot	UTSW	18	44,479,265 (GRCm39)	missense	probably benign	0.08
R9274:Myot	UTSW	18	44,479,265 (GRCm39)	missense	probably damaging	0.98
R9477:Myot	UTSW	18	44,470,333 (GRCm39)	missense	probably benign	0.00
Z1176:Myot	UTSW	18	44,479,152 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCCTGTGCTCCATGAAATCTTGTC -3'
(R):5'- CCTGGGACTTAGCAAGCTCAGAAAC -3'

Sequencing Primer
(F):5'- TTCTGCTTACCAAGCAACTAATG -3'
(R):5'- TTGTAGGGCTGAAGATCCCA -3'

Posted On

2014-04-13