Mutagenetix > Incidental Mutation

Incidental Mutation 'R7529:Myot'

583236

Institutional Source

Beutler Lab

Gene Symbol

Myot

Ensembl Gene

ENSMUSG00000024471

Gene Name

myotilin

Synonyms

5530402I04Rik, Ttid

MMRRC Submission

045601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44467141-44488791 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 44479240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 326 (R326*)

Ref Sequence

ENSEMBL: ENSMUSP00000025349 (fasta)

Gene Model

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

AlphaFold

Q9JIF9

Predicted Effect

probably null
Transcript: ENSMUST00000025349
AA Change: R326*

SMART Domains

Protein: ENSMUSP00000025349
Gene: ENSMUSG00000024471
AA Change: R326*

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 null
Transcript: ENSMUST00000115498
AA Change: R326*

SMART Domains

Protein: ENSMUSP00000111160
Gene: ENSMUSG00000024471
AA Change: R326*

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

0.9754

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	A	7: 127,836,336 (GRCm39)	K86*	probably null	Het
Ablim3	A	C	18: 61,955,039 (GRCm39)	S317A	probably benign	Het
Adcy1	T	C	11: 7,089,157 (GRCm39)	S524P	probably damaging	Het
Agps	C	A	2: 75,662,696 (GRCm39)	A47E	possibly damaging	Het
Arhgef15	G	T	11: 68,844,848 (GRCm39)	R250S	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atoh8	G	T	6: 72,200,825 (GRCm39)	D288E	probably benign	Het
B3galt2	A	C	1: 143,522,274 (GRCm39)	K137Q	probably benign	Het
Cacna2d4	G	A	6: 119,247,727 (GRCm39)	V343I	probably benign	Het
Cage1	T	C	13: 38,209,731 (GRCm39)	N82S	possibly damaging	Het
Cep350	A	G	1: 155,737,669 (GRCm39)	S2725P	probably benign	Het
Cfap65	T	C	1: 74,965,769 (GRCm39)	N414D	probably damaging	Het
Cgnl1	A	C	9: 71,539,040 (GRCm39)	L1154R	probably damaging	Het
Cmya5	A	T	13: 93,233,942 (GRCm39)	M382K	probably benign	Het
Dchs2	G	A	3: 83,261,705 (GRCm39)	V2658M	possibly damaging	Het
Dlgap5	T	C	14: 47,653,876 (GRCm39)	N51S	probably damaging	Het
Dnah17	A	G	11: 117,940,692 (GRCm39)		probably null	Het
Dnal1	A	G	12: 84,178,117 (GRCm39)	I35V	probably benign	Het
Dtnbp1	A	G	13: 45,084,546 (GRCm39)	F198S	probably damaging	Het
Edar	A	T	10: 58,447,830 (GRCm39)	S160T	probably benign	Het
Enpp3	A	T	10: 24,674,072 (GRCm39)	N409K	probably damaging	Het
Ercc6	T	A	14: 32,282,686 (GRCm39)	C726*	probably null	Het
Extl2	G	A	3: 115,821,055 (GRCm39)	V301I	possibly damaging	Het
G2e3	A	G	12: 51,418,387 (GRCm39)	Q594R	probably damaging	Het
Gal3st2c	A	G	1: 93,937,039 (GRCm39)	N328S	probably benign	Het
Galnt17	A	G	5: 131,335,218 (GRCm39)	V74A	probably damaging	Het
Ggta1	A	G	2: 35,304,256 (GRCm39)	W76R	probably damaging	Het
Gm9772	T	A	17: 22,226,140 (GRCm39)	D48V	probably benign	Het
Herpud2	T	C	9: 25,020,193 (GRCm39)	T388A	probably damaging	Het
Ighv5-9-1	A	G	12: 113,699,954 (GRCm39)	S53P	possibly damaging	Het
Il23r	T	A	6: 67,467,720 (GRCm39)	M16L	possibly damaging	Het
Ints1	G	A	5: 139,753,481 (GRCm39)	A717V	possibly damaging	Het
Itpr2	A	T	6: 146,096,096 (GRCm39)	L2122Q	probably damaging	Het
Klrg2	A	T	6: 38,607,266 (GRCm39)	V248E	probably damaging	Het
Krtap5-5	A	G	7: 141,783,429 (GRCm39)	C74R	unknown	Het
Luzp1	G	T	4: 136,268,243 (GRCm39)	L155F	probably damaging	Het
Mcam	T	C	9: 44,050,192 (GRCm39)	V209A	probably benign	Het
Med1	G	C	11: 98,046,791 (GRCm39)	T1335R	unknown	Het
Mroh2b	A	G	15: 4,978,491 (GRCm39)	I1346V	probably damaging	Het
Mrpl4	C	G	9: 20,918,975 (GRCm39)	Q201E	probably benign	Het
Muc21	A	T	17: 35,930,123 (GRCm39)	S1354R	unknown	Het
Mylk2	T	C	2: 152,757,624 (GRCm39)	L326P	probably damaging	Het
Nox3	T	A	17: 3,722,050 (GRCm39)	R288S	probably damaging	Het
Nox4	A	T	7: 87,044,976 (GRCm39)	Y572F	unknown	Het
Or2v2	A	G	11: 49,003,686 (GRCm39)	L289P	probably damaging	Het
Or5an10	A	G	19: 12,276,086 (GRCm39)	S137P	probably damaging	Het
Pcdhb15	G	T	18: 37,607,526 (GRCm39)	E253*	probably null	Het
Plcb2	T	C	2: 118,540,715 (GRCm39)	H1052R	probably damaging	Het
Plpp5	A	T	8: 26,214,233 (GRCm39)	Q250L	probably benign	Het
Plxna2	T	C	1: 194,326,179 (GRCm39)	Y38H	probably benign	Het
Pnpla8	A	G	12: 44,329,963 (GRCm39)	K172E	probably benign	Het
Pramel23	T	C	4: 143,429,244 (GRCm39)			Het
Prl8a9	T	A	13: 27,744,511 (GRCm39)	D110V	probably benign	Het
Prrx1	T	C	1: 163,081,533 (GRCm39)		probably null	Het
Prss52	T	A	14: 64,347,037 (GRCm39)	H70Q	probably benign	Het
Rcc1	T	C	4: 132,061,874 (GRCm39)	T300A	probably benign	Het
Rnf114	T	C	2: 167,349,014 (GRCm39)	V64A	possibly damaging	Het
Rnf168	T	C	16: 32,117,732 (GRCm39)	I431T	probably damaging	Het
Rnmt	A	G	18: 68,444,726 (GRCm39)	M232V	probably benign	Het
Rrs1	A	C	1: 9,616,417 (GRCm39)	Q223H	probably benign	Het
Scyl3	A	T	1: 163,771,438 (GRCm39)	L261F	probably damaging	Het
Slc24a4	A	T	12: 102,230,707 (GRCm39)	T533S	probably benign	Het
Slc26a2	A	G	18: 61,331,430 (GRCm39)	L667P	probably damaging	Het
Snrnp40	T	A	4: 130,278,275 (GRCm39)	V260D	possibly damaging	Het
Snrpa	A	C	7: 26,888,878 (GRCm39)	M174R	probably benign	Het
Ss18l1	C	T	2: 179,699,950 (GRCm39)	A270V	possibly damaging	Het
Stk19	G	T	17: 35,043,632 (GRCm39)	Q193K	probably benign	Het
Syne1	T	A	10: 5,374,382 (GRCm39)	I142L	probably damaging	Het
Tbx2	T	C	11: 85,731,727 (GRCm39)	S675P	probably benign	Het
Tcaf1	A	G	6: 42,652,289 (GRCm39)	I731T	probably damaging	Het
Tg	G	T	15: 66,566,617 (GRCm39)	G1222W	probably damaging	Het
Tsc2	A	G	17: 24,816,922 (GRCm39)	F1581L	probably damaging	Het
Ubr4	G	C	4: 139,149,728 (GRCm39)	V520L	probably benign	Het
Wls	A	T	3: 159,578,644 (GRCm39)	N69Y	probably benign	Het
Wnk2	A	G	13: 49,254,457 (GRCm39)	F353L	possibly damaging	Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp64	C	T	2: 168,735,992 (GRCm39)	G562R	probably benign	Het
Zfp663	T	G	2: 165,194,728 (GRCm39)	E497A	probably damaging	Het
Zfp995	A	T	17: 22,099,333 (GRCm39)	C300*	probably null	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
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
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'- CCCCAAAATCCAGATGATAAAGTTG -3'
(R):5'- ACTGGCATTGGACTAGATTCTG -3'

Sequencing Primer
(F):5'- ATAGAAGACTGCTCTGTTTTGTTTC -3'
(R):5'- GGACTAGATTCTGTAGACGTTAACC -3'

Posted On

2019-10-17