Mutagenetix > Incidental Mutation

Incidental Mutation 'R1772:Myh3'

196723

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

039803-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

R1772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66969126-66993117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66990220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1622 (D1622N)

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: D1622N

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: D1622N

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: D1622N

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: D1622N

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: D1622N

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: D1622N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184592

Meta Mutation Damage Score

0.2512

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.5%

Validation Efficiency

97% (107/110)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	G	T	10: 10,258,465 (GRCm39)		probably benign	Het
Aldh1a7	T	C	19: 20,693,383 (GRCm39)	K179E	probably damaging	Het
Angptl7	G	A	4: 148,581,883 (GRCm39)	R168C	probably damaging	Het
Atp8b1	T	A	18: 64,706,563 (GRCm39)	I208F	possibly damaging	Het
Bco1	A	G	8: 117,857,347 (GRCm39)	Y438C	probably benign	Het
Bltp1	T	C	3: 37,013,581 (GRCm39)	S1937P	probably damaging	Het
Btrc	A	C	19: 45,501,100 (GRCm39)	K218Q	probably damaging	Het
Cct8l1	G	A	5: 25,722,697 (GRCm39)	V471M	probably damaging	Het
Cd180	C	T	13: 102,842,750 (GRCm39)	L599F	probably benign	Het
Cd300e	T	C	11: 114,945,344 (GRCm39)	N150S	probably benign	Het
Clcn1	C	A	6: 42,271,079 (GRCm39)	T281K	probably damaging	Het
Cnnm3	T	C	1: 36,558,038 (GRCm39)	S417P	probably damaging	Het
Cspg4	T	A	9: 56,804,776 (GRCm39)	S1862R	probably benign	Het
Cspg5	A	T	9: 110,091,206 (GRCm39)	N432Y	probably damaging	Het
Cyp2r1	T	A	7: 114,152,451 (GRCm39)	I169F	probably damaging	Het
D130043K22Rik	T	A	13: 25,059,982 (GRCm39)	S618T	probably damaging	Het
Diaph3	G	A	14: 87,202,985 (GRCm39)	P635L	probably damaging	Het
Dlg1	A	G	16: 31,484,485 (GRCm39)	I38V	possibly damaging	Het
Dlk1	T	G	12: 109,425,685 (GRCm39)	V186G	probably damaging	Het
Dmxl2	T	C	9: 54,330,508 (GRCm39)		probably benign	Het
Dnajc17	G	A	2: 119,014,164 (GRCm39)	R132*	probably null	Het
Dock9	G	T	14: 121,847,210 (GRCm39)	N1042K	probably benign	Het
Dok7	A	T	5: 35,243,994 (GRCm39)	Q511L	probably damaging	Het
Espnl	G	A	1: 91,272,325 (GRCm39)	E562K	possibly damaging	Het
Evi5	G	A	5: 107,943,707 (GRCm39)	T562I	probably benign	Het
Exd2	T	A	12: 80,536,253 (GRCm39)	D294E	probably benign	Het
Fbn1	A	T	2: 125,245,148 (GRCm39)	D246E	possibly damaging	Het
Fbxw16	A	T	9: 109,268,650 (GRCm39)	W247R	possibly damaging	Het
Fcer1a	A	G	1: 173,053,004 (GRCm39)	I64T	probably benign	Het
Fcgbp	C	A	7: 27,804,600 (GRCm39)	Q1903K	possibly damaging	Het
Fmn1	A	G	2: 113,195,700 (GRCm39)	S467G	unknown	Het
Fndc7	T	A	3: 108,777,850 (GRCm39)	T369S	probably damaging	Het
Fnta	T	C	8: 26,490,994 (GRCm39)		probably benign	Het
Gak	A	T	5: 108,754,758 (GRCm39)	H289Q	probably damaging	Het
Gas2l3	A	G	10: 89,252,876 (GRCm39)		probably benign	Het
Gbp8	T	C	5: 105,163,987 (GRCm39)	N437S	probably benign	Het
Gk5	G	A	9: 96,032,850 (GRCm39)		probably null	Het
Hid1	A	T	11: 115,239,299 (GRCm39)	V788E	probably damaging	Het
Hmcn1	T	C	1: 150,439,319 (GRCm39)	T5505A	probably damaging	Het
Igf1r	T	A	7: 67,844,822 (GRCm39)	M865K	probably benign	Het
Katnal2	G	A	18: 77,090,233 (GRCm39)	T258I	probably damaging	Het
Kdm3b	A	T	18: 34,936,557 (GRCm39)	I280L	probably benign	Het
Kif24	A	G	4: 41,409,787 (GRCm39)	V382A	probably damaging	Het
Kif2a	A	T	13: 107,114,640 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,333,022 (GRCm39)	I56V	probably benign	Het
Klk6	C	T	7: 43,478,695 (GRCm39)	Q201*	probably null	Het
Klra3	A	T	6: 130,300,671 (GRCm39)	S233T	probably benign	Het
Krt9	A	T	11: 100,082,131 (GRCm39)	M223K	probably damaging	Het
Lama4	G	A	10: 38,936,220 (GRCm39)	E632K	probably benign	Het
Lamb1	T	C	12: 31,328,524 (GRCm39)	Y163H	probably damaging	Het
Lipo3	A	G	19: 33,764,821 (GRCm39)	I11T	probably benign	Het
Lix1l	T	A	3: 96,531,207 (GRCm39)	H333Q	possibly damaging	Het
Mal2	T	A	15: 54,451,783 (GRCm39)	M68K	probably damaging	Het
Map2k2	T	C	10: 80,956,934 (GRCm39)	I104T	probably damaging	Het
Matn2	T	C	15: 34,428,931 (GRCm39)	V765A	probably damaging	Het
Mptx2	T	A	1: 173,102,040 (GRCm39)	K216N	probably damaging	Het
Mup5	C	T	4: 61,750,578 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,419,855 (GRCm39)	Y2494H	probably damaging	Het
Myo6	T	C	9: 80,177,331 (GRCm39)	I609T	possibly damaging	Het
Ndst1	G	A	18: 60,835,909 (GRCm39)	T458I	probably damaging	Het
Neb	A	T	2: 52,125,689 (GRCm39)	Y3622N	probably damaging	Het
Ntm	A	G	9: 29,090,396 (GRCm39)	Y108H	probably benign	Het
Or13c3	T	G	4: 52,855,730 (GRCm39)	K261T	probably benign	Het
Or1a1b	T	C	11: 74,097,398 (GRCm39)	I215V	probably benign	Het
Or52e19	T	C	7: 102,959,449 (GRCm39)	Y174H	possibly damaging	Het
Pappa2	T	A	1: 158,641,938 (GRCm39)	I1373F	possibly damaging	Het
Pear1	A	G	3: 87,661,799 (GRCm39)		probably benign	Het
Phc3	C	T	3: 31,015,969 (GRCm39)	A81T	probably damaging	Het
Pmepa1	A	G	2: 173,076,153 (GRCm39)	S105P	probably damaging	Het
Ppp6r1	T	C	7: 4,645,030 (GRCm39)	I248V	probably benign	Het
Prdm4	G	A	10: 85,729,256 (GRCm39)	T717I	probably damaging	Het
Prom1	T	C	5: 44,168,566 (GRCm39)	T669A	probably benign	Het
Ptpn5	T	A	7: 46,740,516 (GRCm39)	I96F	probably benign	Het
Ptpro	T	C	6: 137,407,741 (GRCm39)	L922P	probably damaging	Het
Reck	A	T	4: 43,890,982 (GRCm39)	H40L	probably benign	Het
Rreb1	T	A	13: 38,114,899 (GRCm39)	C753S	probably benign	Het
Sacs	T	C	14: 61,448,346 (GRCm39)	L3464P	probably damaging	Het
Samsn1	A	T	16: 75,667,663 (GRCm39)	D304E	probably benign	Het
Scgb2b3	T	C	7: 31,059,621 (GRCm39)	N51S	possibly damaging	Het
Shroom3	T	C	5: 93,088,515 (GRCm39)	S341P	probably damaging	Het
Siglece	T	C	7: 43,308,717 (GRCm39)	D212G	probably damaging	Het
Sirpa	A	G	2: 129,458,376 (GRCm39)	T331A	probably damaging	Het
Spata21	T	C	4: 140,838,607 (GRCm39)	S553P	possibly damaging	Het
Speer4b	T	A	5: 27,705,236 (GRCm39)		probably benign	Het
Srgap2	T	C	1: 131,247,376 (GRCm39)	D552G	probably damaging	Het
Stab2	A	G	10: 86,790,098 (GRCm39)	I556T	probably benign	Het
Strip1	C	T	3: 107,534,047 (GRCm39)		probably null	Het
Stxbp6	T	A	12: 44,949,653 (GRCm39)	D92V	probably damaging	Het
Styx	A	G	14: 45,594,215 (GRCm39)	K46E	probably damaging	Het
Supt20	T	A	3: 54,617,841 (GRCm39)	V314E	probably damaging	Het
Syne2	T	A	12: 75,985,503 (GRCm39)	D1650E	probably benign	Het
Szt2	T	A	4: 118,262,714 (GRCm39)	K21M	probably damaging	Het
Tbx4	A	T	11: 85,802,033 (GRCm39)	H222L	probably damaging	Het
Tcstv1b	T	A	13: 120,634,725 (GRCm39)	D2E	probably benign	Het
Tmx3	A	T	18: 90,551,121 (GRCm39)	I254L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpv2	A	T	11: 62,485,052 (GRCm39)		probably benign	Het
Ubap2	A	G	4: 41,202,380 (GRCm39)	S683P	probably benign	Het
Ube2d3	C	T	3: 135,170,972 (GRCm39)	R139W	probably benign	Het
Ubox5	G	T	2: 130,433,794 (GRCm39)	Q518K	probably benign	Het
Usp42	T	C	5: 143,702,857 (GRCm39)	N588S	probably damaging	Het
Vars2	G	A	17: 35,970,976 (GRCm39)	T618M	probably damaging	Het
Wfdc17	A	T	11: 83,595,730 (GRCm39)	N65Y	probably damaging	Het
Zbtb38	G	A	9: 96,570,094 (GRCm39)	P330L	probably damaging	Het
Zfp385a	C	T	15: 103,224,308 (GRCm39)		probably null	Het
Zfp637	T	A	6: 117,822,373 (GRCm39)	L167H	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
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
R5733:Myh3	UTSW	11	66,979,445 (GRCm39)	missense	probably benign	0.24
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'- GCACGAAGAAGCCAAGATTCTCCG -3'
(R):5'- TGTCCTAGACAGAAGCCAAGAGCG -3'

Sequencing Primer
(F):5'- GATCCAGCTTGAACTGACCC -3'
(R):5'- AGCCAAGAGCGTGTGAAG -3'

Posted On

2014-05-23