Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Myot'

254664

Institutional Source

Beutler Lab

Gene Symbol

Myot

Ensembl Gene

ENSMUSG00000024471

Gene Name

myotilin

Synonyms

5530402I04Rik, Ttid

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

44467141-44488791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44470283 bp (GRCm39)

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
A730071L15Rik	A	T	11: 6,150,161 (GRCm39)		probably benign	Het
Abca13	A	T	11: 9,283,310 (GRCm39)	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,748,562 (GRCm39)	T219A	probably damaging	Het
Adgrg5	A	T	8: 95,660,649 (GRCm39)	N92I	probably damaging	Het
Agt	A	C	8: 125,283,694 (GRCm39)	V475G	probably damaging	Het
Akap6	A	G	12: 52,934,061 (GRCm39)	K518E	possibly damaging	Het
Apoh	T	G	11: 108,295,697 (GRCm39)	D133E	probably benign	Het
Axdnd1	T	A	1: 156,220,319 (GRCm39)	M234L	possibly damaging	Het
Cacna1d	A	G	14: 29,804,468 (GRCm39)	I1335T	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cfap206	T	A	4: 34,711,566 (GRCm39)	K444*	probably null	Het
Clasp2	A	G	9: 113,707,832 (GRCm39)	I614M	probably benign	Het
Col6a4	A	T	9: 105,940,275 (GRCm39)	D1218E	possibly damaging	Het
Cplane1	T	C	15: 8,230,753 (GRCm39)	V1010A	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
D130043K22Rik	C	T	13: 25,067,874 (GRCm39)	T870M	probably damaging	Het
Dagla	C	A	19: 10,225,516 (GRCm39)	A883S	probably benign	Het
Dhx30	A	G	9: 109,926,263 (GRCm39)	V87A	probably damaging	Het
Dtx1	C	A	5: 120,848,249 (GRCm39)	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,683,605 (GRCm39)	S528T	possibly damaging	Het
Eeig2	T	A	3: 108,886,164 (GRCm39)	N356I	probably benign	Het
Egfem1	A	T	3: 29,637,080 (GRCm39)	N172I	probably damaging	Het
Fam13a	T	G	6: 58,912,594 (GRCm39)	R686S	probably damaging	Het
Fam243	A	G	16: 92,118,207 (GRCm39)	L27P	probably damaging	Het
Fmo1	T	A	1: 162,663,828 (GRCm39)	I234L	probably benign	Het
Foxj2	C	T	6: 122,805,331 (GRCm39)	R68W	probably damaging	Het
Foxo6	A	T	4: 120,125,961 (GRCm39)	M278K	probably benign	Het
Fsip2	A	G	2: 82,820,775 (GRCm39)	S5503G	probably benign	Het
Gdf5	C	G	2: 155,784,010 (GRCm39)	R100G	probably benign	Het
Il1b	A	T	2: 129,209,242 (GRCm39)	D129E	probably damaging	Het
Klhl29	A	G	12: 5,141,350 (GRCm39)	S545P	probably damaging	Het
Krt87	G	T	15: 101,385,708 (GRCm39)	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,599,638 (GRCm39)	S509R	probably damaging	Het
Lmod1	A	T	1: 135,291,702 (GRCm39)	K186*	probably null	Het
Lrpprc	C	T	17: 85,034,077 (GRCm39)	A973T	probably damaging	Het
Marco	T	C	1: 120,422,514 (GRCm39)	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,906,001 (GRCm39)	N394S	probably null	Het
Myo5a	A	G	9: 75,030,322 (GRCm39)	Y147C	probably damaging	Het
Myo5a	T	C	9: 75,059,179 (GRCm39)	V469A	probably damaging	Het
Nav2	A	G	7: 49,247,312 (GRCm39)	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112 (GRCm38)	E1037G	possibly damaging	Het
Or1j13	T	C	2: 36,369,986 (GRCm39)	D52G	probably damaging	Het
Or52e4	A	G	7: 104,705,878 (GRCm39)	T142A	probably benign	Het
Or5k17	A	G	16: 58,746,286 (GRCm39)	V216A	probably benign	Het
Pitrm1	G	T	13: 6,625,128 (GRCm39)	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Prdx1	T	G	4: 116,550,997 (GRCm39)	I156S	probably benign	Het
Rbks	T	A	5: 31,823,096 (GRCm39)	T107S	probably damaging	Het
Ryr3	G	A	2: 112,506,219 (GRCm39)	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,103,813 (GRCm39)	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,457,568 (GRCm39)	V214A	probably benign	Het
Slc35c1	T	C	2: 92,289,225 (GRCm39)	N94D	probably benign	Het
Sorbs2	A	T	8: 46,248,407 (GRCm39)	K553*	probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Thg1l	A	G	11: 45,842,392 (GRCm39)	V142A	probably benign	Het
Tiparp	T	A	3: 65,460,551 (GRCm39)	Y513*	probably null	Het
Tmc6	A	G	11: 117,663,646 (GRCm39)	V522A	probably benign	Het
Trim39	T	A	17: 36,580,056 (GRCm39)		probably benign	Het
Trrap	G	A	5: 144,780,179 (GRCm39)		probably null	Het
Tulp3	C	T	6: 128,304,601 (GRCm39)	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,753,955 (GRCm39)	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,719,147 (GRCm39)	Y833*	probably null	Het
Zfp810	A	T	9: 22,190,534 (GRCm39)	S125T	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
R1512:Myot	UTSW	18	44,475,422 (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
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'- AAATCCGTGTGGCTCCAGAC -3'
(R):5'- GCCCACACTATCATTTTGTGTG -3'

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

Posted On

2014-12-04