Mutagenetix > Incidental Mutation

Incidental Mutation 'R6812:Myh3'

533862

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

044924-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

R6812 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66969126-66993117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66977228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 319 (I319N)

Ref Sequence

ENSEMBL: ENSMUSP00000131883 (fasta)

Gene Model

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

AlphaFold

P13541

Predicted Effect

probably damaging
Transcript: ENSMUST00000007301
AA Change: I319N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: I319N

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 damaging
Transcript: ENSMUST00000108689
AA Change: I319N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: I319N

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 damaging
Transcript: ENSMUST00000165221
AA Change: I319N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: I319N

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

Meta Mutation Damage Score

0.2443

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.0%
20x: 97.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	C	T	16: 56,616,161 (GRCm39)		probably benign	Het
Ak9	A	T	10: 41,243,163 (GRCm39)	M686L	unknown	Het
Ap3b1	A	T	13: 94,616,369 (GRCm39)	T757S	unknown	Het
Apob	A	T	12: 8,033,062 (GRCm39)	K139N	probably damaging	Het
Arid4a	A	G	12: 71,094,037 (GRCm39)	E270G	possibly damaging	Het
Atp1a2	A	T	1: 172,112,444 (GRCm39)	C515S	probably benign	Het
Bicd1	T	C	6: 149,311,035 (GRCm39)	Y37H	probably damaging	Het
Birc2	T	G	9: 7,854,418 (GRCm39)	D424A	probably damaging	Het
Ccdc97	A	T	7: 25,412,469 (GRCm39)	F324L	probably damaging	Het
Crim1	T	A	17: 78,623,029 (GRCm39)	I409N	probably damaging	Het
Cul7	T	A	17: 46,972,335 (GRCm39)	I1233N	probably benign	Het
Dcaf1	T	C	9: 106,735,268 (GRCm39)	S739P	probably damaging	Het
Ddb1	T	C	19: 10,599,863 (GRCm39)		probably null	Het
Dennd5b	T	C	6: 148,982,630 (GRCm39)		probably benign	Het
Dna2	A	G	10: 62,795,120 (GRCm39)	S464G	probably benign	Het
Dnah9	C	T	11: 65,872,155 (GRCm39)	V2692M	probably damaging	Het
Dvl2	T	C	11: 69,891,821 (GRCm39)	Y55H	probably damaging	Het
Eif4g3	G	T	4: 137,830,687 (GRCm39)	Q140H	probably damaging	Het
Enpp5	G	A	17: 44,396,467 (GRCm39)	V460M	probably benign	Het
Etv2	G	T	7: 30,333,426 (GRCm39)	C265*	probably null	Het
F12	T	C	13: 55,569,658 (GRCm39)	E146G	probably damaging	Het
Fdps	C	A	3: 89,001,783 (GRCm39)	E301D	possibly damaging	Het
Fsd2	G	T	7: 81,184,837 (GRCm39)	H686Q	probably benign	Het
Gk5	T	C	9: 96,032,802 (GRCm39)	S262P	probably damaging	Het
Gm20730	A	G	6: 43,058,722 (GRCm39)	V30A	probably benign	Het
Gpr68	C	A	12: 100,844,670 (GRCm39)	E291D	probably damaging	Het
Gucy2c	A	G	6: 136,674,993 (GRCm39)	V1006A	probably benign	Het
Itgb1	T	A	8: 129,431,891 (GRCm39)		probably null	Het
Kif2a	A	T	13: 107,106,259 (GRCm39)	D570E	probably benign	Het
Krt8	G	T	15: 101,906,414 (GRCm39)	A365D	probably damaging	Het
Lias	T	A	5: 65,566,132 (GRCm39)	V373E	possibly damaging	Het
Mpl	A	G	4: 118,312,461 (GRCm39)	V169A	probably benign	Het
Myrfl	T	A	10: 116,668,818 (GRCm39)	K315I	probably damaging	Het
Nrap	T	C	19: 56,340,108 (GRCm39)	D803G	probably damaging	Het
Obi1	A	G	14: 104,747,868 (GRCm39)	V40A	unknown	Het
Or5b119	T	C	19: 13,456,975 (GRCm39)	T196A	probably benign	Het
Pald1	A	G	10: 61,178,701 (GRCm39)	S536P	possibly damaging	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Prkaa2	T	A	4: 104,904,349 (GRCm39)	T243S	probably benign	Het
Prrc2b	T	A	2: 32,103,153 (GRCm39)	V877D	probably benign	Het
Rbm27	T	A	18: 42,466,468 (GRCm39)		probably null	Het
Rbm48	A	G	5: 3,646,105 (GRCm39)	V33A	probably benign	Het
Rev3l	G	T	10: 39,699,544 (GRCm39)	R1347L	probably benign	Het
Rtp3	A	G	9: 110,816,180 (GRCm39)	F124L	probably benign	Het
Ryr3	C	T	2: 112,777,251 (GRCm39)	G302D	probably damaging	Het
Scnn1a	A	G	6: 125,314,819 (GRCm39)	N314S	probably benign	Het
Sik3	C	T	9: 46,122,067 (GRCm39)	R907W	probably damaging	Het
Sox5	C	T	6: 144,062,169 (GRCm39)		probably null	Het
Tmc1	A	C	19: 20,878,225 (GRCm39)	L90R	probably damaging	Het
Tmtc2	A	G	10: 105,249,130 (GRCm39)	V201A	probably benign	Het
Uvrag	T	A	7: 98,537,689 (GRCm39)	H502L	probably benign	Het
Vwa8	T	A	14: 79,434,859 (GRCm39)	I1760N	probably damaging	Het
Zfp318	G	GAAGAAT	17: 46,723,468 (GRCm39)		probably benign	Het
Zfp772	T	C	7: 7,209,307 (GRCm39)	D61G	possibly 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
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
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'- GAGACTGCAGTTTCCCTTAGC -3'
(R):5'- AGTCCAGATTTCTCCTCCGG -3'

Sequencing Primer
(F):5'- AATGCTGGGACCCTTTAATACGG -3'
(R):5'- CAGATTTCTCCTCCGGGGTGAAG -3'

Posted On

2018-09-12