Mutagenetix > Incidental Mutation

Incidental Mutation 'R5733:Myh3'

451548

Institutional Source

Beutler Lab

Gene Symbol

Myh3

Ensembl Gene

ENSMUSG00000020908

Gene Name

myosin, heavy polypeptide 3, skeletal muscle, embryonic

Synonyms

Myhse, Myhs-e, MyHC-emb

MMRRC Submission

043193-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

R5733 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66969126-66993117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66979445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 491 (N491S)

Ref Sequence

ENSEMBL: ENSMUSP00000131883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]

AlphaFold

P13541

Predicted Effect

probably benign
Transcript: ENSMUST00000007301
AA Change: N491S

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: N491S

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.1e-14	PFAM
MYSc	80	780	N/A	SMART
IQ	781	803	1.65e-2	SMART
IQ	807	829	2.25e2	SMART
low complexity region	844	856	N/A	INTRINSIC
low complexity region	925	939	N/A	INTRINSIC
low complexity region	1020	1028	N/A	INTRINSIC
Pfam:Myosin_tail_1	1069	1927	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108689
AA Change: N491S

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: N491S

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.1e-14	PFAM
MYSc	80	780	N/A	SMART
IQ	781	803	1.65e-2	SMART
IQ	807	829	2.25e2	SMART
low complexity region	844	856	N/A	INTRINSIC
low complexity region	925	939	N/A	INTRINSIC
low complexity region	1020	1028	N/A	INTRINSIC
Pfam:Myosin_tail_1	1069	1927	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165221
AA Change: N491S

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: N491S

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	2.2e-13	PFAM
MYSc	80	780	N/A	SMART
IQ	781	803	1.65e-2	SMART
IQ	807	829	2.25e2	SMART
Pfam:Myosin_tail_1	844	1925	2.1e-164	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	A	5: 35,762,543 (GRCm39)		probably null	Het
Ahnak2	A	T	12: 112,742,100 (GRCm39)	Y657*	probably null	Het
Anxa3	T	A	5: 96,968,331 (GRCm39)	I128N	probably damaging	Het
Bsnd	T	C	4: 106,345,198 (GRCm39)	T83A	probably benign	Het
Capn10	A	G	1: 92,871,635 (GRCm39)	Y411C	probably benign	Het
Capn3	G	A	2: 120,315,075 (GRCm39)	W201*	probably null	Het
Crtap	T	C	9: 114,207,164 (GRCm39)	T365A	probably benign	Het
Daam1	A	G	12: 71,992,272 (GRCm39)	D329G	unknown	Het
Dmxl2	A	T	9: 54,283,550 (GRCm39)	L2761Q	possibly damaging	Het
Fcho2	A	C	13: 98,926,310 (GRCm39)	V91G	probably damaging	Het
Fen1	A	T	19: 10,178,022 (GRCm39)	C141S	possibly damaging	Het
Fkbp15	G	C	4: 62,225,166 (GRCm39)	A831G	probably benign	Het
Frmd4a	A	T	2: 4,305,768 (GRCm39)	R14S	possibly damaging	Het
Fzr1	A	G	10: 81,206,160 (GRCm39)	F176L	possibly damaging	Het
Garem2	A	G	5: 30,321,336 (GRCm39)	D565G	probably damaging	Het
Garre1	A	T	7: 33,944,505 (GRCm39)	S76T	probably damaging	Het
Iqca1	G	T	1: 89,998,257 (GRCm39)	T549K	probably damaging	Het
Itgax	T	A	7: 127,739,647 (GRCm39)	S686R	probably damaging	Het
Knop1	C	A	7: 118,445,305 (GRCm39)	G220C	probably damaging	Het
Lyzl1	T	A	18: 4,169,142 (GRCm39)	C49S	probably damaging	Het
Mpzl1	A	T	1: 165,433,180 (GRCm39)	I157K	probably benign	Het
Mrgprb2	T	C	7: 48,202,261 (GRCm39)	I155V	probably benign	Het
Mucl3	T	C	17: 35,949,102 (GRCm39)	M166V	probably benign	Het
Mvb12b	T	C	2: 33,717,728 (GRCm39)	T167A	probably benign	Het
Myo5b	A	G	18: 74,787,128 (GRCm39)	D511G	possibly damaging	Het
Or10ak8	C	T	4: 118,774,035 (GRCm39)	V210I	probably benign	Het
Or11h4	T	C	14: 50,974,509 (GRCm39)	T37A	probably benign	Het
Or6b1	C	T	6: 42,815,180 (GRCm39)	R122C	probably damaging	Het
Or8k21	T	G	2: 86,145,558 (GRCm39)	Q24P	probably damaging	Het
Ptcd1	A	G	5: 145,091,671 (GRCm39)	M476T	probably damaging	Het
Pum3	A	G	19: 27,398,695 (GRCm39)		probably null	Het
Ranbp2	G	A	10: 58,321,658 (GRCm39)	D2652N	probably damaging	Het
Rassf1	T	C	9: 107,435,213 (GRCm39)	V166A	probably damaging	Het
Rictor	A	G	15: 6,812,585 (GRCm39)	H907R	probably benign	Het
Rorb	T	C	19: 18,965,471 (GRCm39)	E6G	probably damaging	Het
Serpina3f	A	T	12: 104,183,182 (GRCm39)	T15S	possibly damaging	Het
Sorbs2	T	C	8: 46,212,226 (GRCm39)	L100P	probably damaging	Het
Sprr2k	T	C	3: 92,340,655 (GRCm39)		probably benign	Het
Srrm2	T	A	17: 24,040,360 (GRCm39)	S2431T	probably damaging	Het
Stox2	T	A	8: 47,866,172 (GRCm39)	K57*	probably null	Het
Ttc21a	G	A	9: 119,770,327 (GRCm39)	V133I	probably benign	Het
Vasn	T	C	16: 4,468,026 (GRCm39)	Y658H	possibly damaging	Het
Zfp251	A	G	15: 76,754,527 (GRCm39)	Y35H	probably damaging	Het

Other mutations in Myh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Myh3	APN	11	66,981,681 (GRCm39)	missense	probably damaging	1.00
IGL01989:Myh3	APN	11	66,977,481 (GRCm39)	missense	probably damaging	1.00
IGL02097:Myh3	APN	11	66,973,750 (GRCm39)	missense	probably benign
IGL02197:Myh3	APN	11	66,989,409 (GRCm39)	missense	probably benign	0.05
IGL02458:Myh3	APN	11	66,987,766 (GRCm39)	missense	possibly damaging	0.87
IGL02526:Myh3	APN	11	66,978,371 (GRCm39)	missense	probably benign	0.01
IGL02559:Myh3	APN	11	66,991,921 (GRCm39)	missense	possibly damaging	0.94
IGL02600:Myh3	APN	11	66,974,227 (GRCm39)	missense	probably damaging	1.00
IGL02866:Myh3	APN	11	66,979,849 (GRCm39)	missense	probably benign	0.08
IGL02943:Myh3	APN	11	66,981,891 (GRCm39)	missense	probably benign	0.02
IGL03087:Myh3	APN	11	66,981,798 (GRCm39)	missense	probably damaging	1.00
IGL03131:Myh3	APN	11	66,981,935 (GRCm39)	splice site	probably benign
bud	UTSW	11	66,986,833 (GRCm39)	critical splice acceptor site	probably null
R0049:Myh3	UTSW	11	66,990,498 (GRCm39)	missense	probably damaging	1.00
R0157:Myh3	UTSW	11	66,973,735 (GRCm39)	missense	probably benign	0.00
R0266:Myh3	UTSW	11	66,984,498 (GRCm39)	missense	possibly damaging	0.73
R0352:Myh3	UTSW	11	66,981,254 (GRCm39)	missense	possibly damaging	0.79
R0391:Myh3	UTSW	11	66,987,333 (GRCm39)	splice site	probably benign
R0926:Myh3	UTSW	11	66,981,340 (GRCm39)	splice site	probably null
R1243:Myh3	UTSW	11	66,981,279 (GRCm39)	missense	possibly damaging	0.80
R1344:Myh3	UTSW	11	66,983,158 (GRCm39)	missense	probably benign	0.03
R1414:Myh3	UTSW	11	66,989,491 (GRCm39)	missense	probably damaging	0.98
R1442:Myh3	UTSW	11	66,978,103 (GRCm39)	missense	possibly damaging	0.77
R1470:Myh3	UTSW	11	66,988,885 (GRCm39)	splice site	probably benign
R1480:Myh3	UTSW	11	66,984,371 (GRCm39)	missense	possibly damaging	0.88
R1598:Myh3	UTSW	11	66,983,997 (GRCm39)	missense	probably damaging	1.00
R1620:Myh3	UTSW	11	66,979,562 (GRCm39)	splice site	probably benign
R1682:Myh3	UTSW	11	66,979,891 (GRCm39)	missense	probably damaging	1.00
R1759:Myh3	UTSW	11	66,987,717 (GRCm39)	missense	probably damaging	0.98
R1772:Myh3	UTSW	11	66,990,220 (GRCm39)	missense	probably benign	0.32
R1868:Myh3	UTSW	11	66,975,852 (GRCm39)	missense	probably benign	0.34
R1874:Myh3	UTSW	11	66,984,005 (GRCm39)	missense	probably benign	0.03
R1885:Myh3	UTSW	11	66,977,453 (GRCm39)	missense	probably benign	0.23
R1923:Myh3	UTSW	11	66,970,828 (GRCm39)	missense	probably benign	0.00
R2145:Myh3	UTSW	11	66,981,882 (GRCm39)	missense	probably benign
R3973:Myh3	UTSW	11	66,987,262 (GRCm39)	nonsense	probably null
R4410:Myh3	UTSW	11	66,975,858 (GRCm39)	missense	possibly damaging	0.71
R4583:Myh3	UTSW	11	66,987,279 (GRCm39)	nonsense	probably null
R4650:Myh3	UTSW	11	66,977,270 (GRCm39)	missense	probably damaging	1.00
R4822:Myh3	UTSW	11	66,979,836 (GRCm39)	missense	probably benign
R4836:Myh3	UTSW	11	66,987,765 (GRCm39)	missense	probably benign	0.01
R4898:Myh3	UTSW	11	66,990,233 (GRCm39)	missense	probably benign	0.05
R4946:Myh3	UTSW	11	66,984,364 (GRCm39)	missense	probably benign
R5506:Myh3	UTSW	11	66,974,915 (GRCm39)	missense	probably damaging	1.00
R5534:Myh3	UTSW	11	66,987,870 (GRCm39)	missense	probably damaging	1.00
R5889:Myh3	UTSW	11	66,977,201 (GRCm39)	missense	probably damaging	1.00
R6056:Myh3	UTSW	11	66,978,371 (GRCm39)	missense	probably benign	0.01
R6223:Myh3	UTSW	11	66,988,843 (GRCm39)	missense	probably benign
R6228:Myh3	UTSW	11	66,978,312 (GRCm39)	missense	probably benign	0.17
R6341:Myh3	UTSW	11	66,973,822 (GRCm39)	missense	probably benign	0.00
R6434:Myh3	UTSW	11	66,973,193 (GRCm39)	missense	probably damaging	1.00
R6533:Myh3	UTSW	11	66,981,245 (GRCm39)	missense	probably damaging	0.96
R6812:Myh3	UTSW	11	66,977,228 (GRCm39)	missense	probably damaging	0.99
R7336:Myh3	UTSW	11	66,981,847 (GRCm39)	missense	probably benign	0.13
R7354:Myh3	UTSW	11	66,987,708 (GRCm39)	missense	probably damaging	1.00
R7498:Myh3	UTSW	11	66,987,874 (GRCm39)	missense	possibly damaging	0.96
R7532:Myh3	UTSW	11	66,981,921 (GRCm39)	missense	probably benign
R7841:Myh3	UTSW	11	66,989,518 (GRCm39)	missense	probably damaging	1.00
R7878:Myh3	UTSW	11	66,978,077 (GRCm39)	missense	probably damaging	1.00
R8169:Myh3	UTSW	11	66,979,856 (GRCm39)	missense	probably benign	0.06
R8194:Myh3	UTSW	11	66,982,828 (GRCm39)	missense	probably damaging	1.00
R8215:Myh3	UTSW	11	66,992,005 (GRCm39)	missense	probably damaging	0.99
R8240:Myh3	UTSW	11	66,983,196 (GRCm39)	missense	probably benign	0.01
R8255:Myh3	UTSW	11	66,985,848 (GRCm39)	missense	probably damaging	1.00
R8310:Myh3	UTSW	11	66,986,833 (GRCm39)	critical splice acceptor site	probably null
R9103:Myh3	UTSW	11	66,989,451 (GRCm39)	missense	probably benign	0.01
R9249:Myh3	UTSW	11	66,975,855 (GRCm39)	missense	probably benign	0.12
R9307:Myh3	UTSW	11	66,984,397 (GRCm39)	missense	possibly damaging	0.57
R9430:Myh3	UTSW	11	66,982,726 (GRCm39)	missense	possibly damaging	0.94
R9529:Myh3	UTSW	11	66,979,556 (GRCm39)	critical splice donor site	probably null
R9558:Myh3	UTSW	11	66,983,316 (GRCm39)	missense	possibly damaging	0.89
R9565:Myh3	UTSW	11	66,983,187 (GRCm39)	nonsense	probably null
R9691:Myh3	UTSW	11	66,991,921 (GRCm39)	missense	possibly damaging	0.94
R9790:Myh3	UTSW	11	66,992,005 (GRCm39)	missense	probably damaging	0.99
R9791:Myh3	UTSW	11	66,992,005 (GRCm39)	missense	probably damaging	0.99
RF009:Myh3	UTSW	11	66,977,183 (GRCm39)	frame shift	probably null
RF009:Myh3	UTSW	11	66,977,182 (GRCm39)	frame shift	probably null
RF009:Myh3	UTSW	11	66,977,181 (GRCm39)	frame shift	probably null
RF010:Myh3	UTSW	11	66,977,185 (GRCm39)	frame shift	probably null
RF010:Myh3	UTSW	11	66,977,182 (GRCm39)	frame shift	probably null
RF013:Myh3	UTSW	11	66,977,182 (GRCm39)	frame shift	probably null
RF015:Myh3	UTSW	11	66,977,182 (GRCm39)	frame shift	probably null
X0060:Myh3	UTSW	11	66,985,824 (GRCm39)	missense	probably benign	0.00
X0062:Myh3	UTSW	11	66,979,942 (GRCm39)	missense	probably benign	0.03
Z1176:Myh3	UTSW	11	66,973,241 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TGCCTCTGAAAACTTAGCAGAGC -3'
(R):5'- GGATGGAGAAGATGCCCATC -3'

Sequencing Primer
(F):5'- CTCTGAAAACTTAGCAGAGCAGGTG -3'
(R):5'- CATCGGCTGGATTGAAGGC -3'

Posted On

2017-01-03