Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Myot'

254664

Institutional Source

Beutler Lab

Gene Symbol

Myot

Ensembl Gene

ENSMUSG00000024471

Gene Name

myotilin

Synonyms

Ttid, 5530402I04Rik

MMRRC Submission

040427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44334074-44355724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44337216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 87 (T87A)

Ref Sequence

ENSEMBL: ENSMUSP00000111160 (fasta)

Gene Model

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

AlphaFold

Q9JIF9

Predicted Effect

probably benign
Transcript: ENSMUST00000025349
AA Change: T87A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025349
Gene: ENSMUSG00000024471
AA Change: T87A

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 benign
Transcript: ENSMUST00000115498
AA Change: T87A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000111160
Gene: ENSMUSG00000024471
AA Change: T87A

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,201,269 (GRCm38)	V1010A	possibly damaging	Het
4930563D23Rik	A	G	16: 92,321,319 (GRCm38)	L27P	probably damaging	Het
A730071L15Rik	A	T	11: 6,200,161 (GRCm38)		probably benign	Het
Abca13	A	T	11: 9,333,310 (GRCm38)	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,437,671 (GRCm38)	T219A	probably damaging	Het
Adgrg5	A	T	8: 94,934,021 (GRCm38)	N92I	probably damaging	Het
Agt	A	C	8: 124,556,955 (GRCm38)	V475G	probably damaging	Het
Akap6	A	G	12: 52,887,278 (GRCm38)	K518E	possibly damaging	Het
Apoh	T	G	11: 108,404,871 (GRCm38)	D133E	probably benign	Het
Axdnd1	T	A	1: 156,392,749 (GRCm38)	M234L	possibly damaging	Het
Cacna1d	A	G	14: 30,082,511 (GRCm38)	I1335T	probably damaging	Het
Cdh15	G	A	8: 122,862,024 (GRCm38)	R279Q	probably damaging	Het
Cfap206	T	A	4: 34,711,566 (GRCm38)	K444*	probably null	Het
Clasp2	A	G	9: 113,878,764 (GRCm38)	I614M	probably benign	Het
Col6a4	A	T	9: 106,063,076 (GRCm38)	D1218E	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236 (GRCm38)		probably null	Het
D130043K22Rik	C	T	13: 24,883,891 (GRCm38)	T870M	probably damaging	Het
Dagla	C	A	19: 10,248,152 (GRCm38)	A883S	probably benign	Het
Dhx30	A	G	9: 110,097,195 (GRCm38)	V87A	probably damaging	Het
Dtx1	C	A	5: 120,710,184 (GRCm38)	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,530,129 (GRCm38)	S528T	possibly damaging	Het
Egfem1	A	T	3: 29,582,931 (GRCm38)	N172I	probably damaging	Het
Fam102b	T	A	3: 108,978,848 (GRCm38)	N356I	probably benign	Het
Fam13a	T	G	6: 58,935,609 (GRCm38)	R686S	probably damaging	Het
Fmo1	T	A	1: 162,836,259 (GRCm38)	I234L	probably benign	Het
Foxj2	C	T	6: 122,828,372 (GRCm38)	R68W	probably damaging	Het
Foxo6	A	T	4: 120,268,764 (GRCm38)	M278K	probably benign	Het
Fsip2	A	G	2: 82,990,431 (GRCm38)	S5503G	probably benign	Het
Gdf5	C	G	2: 155,942,090 (GRCm38)	R100G	probably benign	Het
Il1b	A	T	2: 129,367,322 (GRCm38)	D129E	probably damaging	Het
Klhl29	A	G	12: 5,091,350 (GRCm38)	S545P	probably damaging	Het
Krt83	G	T	15: 101,487,827 (GRCm38)	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,708,812 (GRCm38)	S509R	probably damaging	Het
Lmod1	A	T	1: 135,363,964 (GRCm38)	K186*	probably null	Het
Lrpprc	C	T	17: 84,726,649 (GRCm38)	A973T	probably damaging	Het
Marco	T	C	1: 120,494,785 (GRCm38)	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,722,018 (GRCm38)	N394S	probably null	Het
Myo5a	T	C	9: 75,151,897 (GRCm38)	V469A	probably damaging	Het
Myo5a	A	G	9: 75,123,040 (GRCm38)	Y147C	probably damaging	Het
Nav2	A	G	7: 49,597,564 (GRCm38)	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112 (GRCm38)	E1037G	possibly damaging	Het
Olfr181	A	G	16: 58,925,923 (GRCm38)	V216A	probably benign	Het
Olfr341	T	C	2: 36,479,974 (GRCm38)	D52G	probably damaging	Het
Olfr677	A	G	7: 105,056,671 (GRCm38)	T142A	probably benign	Het
Pitrm1	G	T	13: 6,575,092 (GRCm38)	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781 (GRCm38)		probably benign	Het
Prdx1	T	G	4: 116,693,800 (GRCm38)	I156S	probably benign	Het
Rbks	T	A	5: 31,665,752 (GRCm38)	T107S	probably damaging	Het
Ryr3	G	A	2: 112,675,874 (GRCm38)	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,273,469 (GRCm38)	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,615,648 (GRCm38)	V214A	probably benign	Het
Slc35c1	T	C	2: 92,458,880 (GRCm38)	N94D	probably benign	Het
Sorbs2	A	T	8: 45,795,370 (GRCm38)	K553*	probably null	Het
Tectb	C	G	19: 55,180,999 (GRCm38)		probably benign	Het
Thg1l	A	G	11: 45,951,565 (GRCm38)	V142A	probably benign	Het
Tiparp	T	A	3: 65,553,130 (GRCm38)	Y513*	probably null	Het
Tmc6	A	G	11: 117,772,820 (GRCm38)	V522A	probably benign	Het
Trim39	T	A	17: 36,269,164 (GRCm38)		probably benign	Het
Trrap	G	A	5: 144,843,369 (GRCm38)		probably null	Het
Tulp3	C	T	6: 128,327,638 (GRCm38)	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,776,971 (GRCm38)	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,742,188 (GRCm38)	Y833*	probably null	Het
Zfp810	A	T	9: 22,279,238 (GRCm38)	S125T	probably benign	Het

Other mutations in Myot

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Myot	APN	18	44,337,114 (GRCm38)	missense	possibly damaging	0.85
IGL02117:Myot	APN	18	44,355,110 (GRCm38)	missense	probably benign	0.36
IGL02812:Myot	APN	18	44,346,060 (GRCm38)	missense	probably damaging	1.00
R0178:Myot	UTSW	18	44,336,986 (GRCm38)	missense	probably damaging	1.00
R1512:Myot	UTSW	18	44,342,355 (GRCm38)	missense	probably damaging	1.00
R1620:Myot	UTSW	18	44,337,058 (GRCm38)	missense	possibly damaging	0.48
R2140:Myot	UTSW	18	44,354,125 (GRCm38)	missense	possibly damaging	0.53
R2234:Myot	UTSW	18	44,354,272 (GRCm38)	missense	probably damaging	0.98
R2235:Myot	UTSW	18	44,354,272 (GRCm38)	missense	probably damaging	0.98
R3702:Myot	UTSW	18	44,354,095 (GRCm38)	splice site	probably null
R4967:Myot	UTSW	18	44,354,928 (GRCm38)	missense	possibly damaging	0.68
R5154:Myot	UTSW	18	44,354,214 (GRCm38)	missense	probably benign
R5250:Myot	UTSW	18	44,346,070 (GRCm38)	missense	probably damaging	1.00
R5322:Myot	UTSW	18	44,354,149 (GRCm38)	missense	probably benign	0.05
R7110:Myot	UTSW	18	44,341,386 (GRCm38)	missense	probably damaging	1.00
R7385:Myot	UTSW	18	44,337,008 (GRCm38)	nonsense	probably null
R7529:Myot	UTSW	18	44,346,173 (GRCm38)	nonsense	probably null
R7899:Myot	UTSW	18	44,354,184 (GRCm38)	missense	probably benign	0.01
R8006:Myot	UTSW	18	44,354,837 (GRCm38)	missense	probably damaging	1.00
R8179:Myot	UTSW	18	44,354,130 (GRCm38)	nonsense	probably null
R8296:Myot	UTSW	18	44,342,349 (GRCm38)	missense	probably damaging	1.00
R8367:Myot	UTSW	18	44,337,099 (GRCm38)	missense	probably benign	0.03
R8398:Myot	UTSW	18	44,354,816 (GRCm38)	missense	probably benign	0.01
R9249:Myot	UTSW	18	44,346,198 (GRCm38)	missense	probably benign	0.08
R9274:Myot	UTSW	18	44,346,198 (GRCm38)	missense	probably damaging	0.98
R9477:Myot	UTSW	18	44,337,266 (GRCm38)	missense	probably benign	0.00
Z1176:Myot	UTSW	18	44,346,085 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAATCCGTGTGGCTCCAGAC -3'
(R):5'- GCCCACACTATCATTTTGTGTG -3'

Sequencing Primer
(F):5'- TGTGGCTCCAGACTGCAG -3'
(R):5'- TTGTGTGCTAAAGAATAACAGCAGC -3'

Posted On

2014-12-04