Mutagenetix > Incidental Mutation

Incidental Mutation 'R8240:Myh3'

640918

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

067671-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

R8240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66969126-66993117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66983196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 908 (Q908K)

Ref Sequence

ENSEMBL: ENSMUSP00000007301 (fasta)

Gene Model

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

AlphaFold

P13541

Predicted Effect

probably benign
Transcript: ENSMUST00000007301
AA Change: Q908K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: Q908K

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: Q908K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: Q908K

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: Q908K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: Q908K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	T	5: 114,961,472 (GRCm39)	V12E	probably benign	Het
Ahnak2	A	G	12: 112,741,082 (GRCm39)	F997L	probably benign	Het
Baiap3	A	T	17: 25,464,288 (GRCm39)		probably null	Het
Cct6b	A	G	11: 82,614,650 (GRCm39)	I446T	probably damaging	Het
Cfap206	A	G	4: 34,728,902 (GRCm39)	M1T	probably null	Het
Clca4a	T	C	3: 144,676,488 (GRCm39)	Y64C	probably damaging	Het
Col24a1	A	T	3: 145,213,457 (GRCm39)	Q1354L	probably benign	Het
Coro7	A	G	16: 4,486,660 (GRCm39)	V171A	probably damaging	Het
Cyp3a44	G	A	5: 145,725,257 (GRCm39)	L315F	probably damaging	Het
Frem1	T	A	4: 82,874,485 (GRCm39)	D1379V	probably benign	Het
Gstm6	T	A	3: 107,849,453 (GRCm39)	D119V	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hibch	T	A	1: 52,940,494 (GRCm39)		probably null	Het
Il1rap	G	A	16: 26,520,001 (GRCm39)	E356K	probably benign	Het
Itm2c	G	T	1: 85,822,457 (GRCm39)	G25C	probably benign	Het
Klhl8	C	T	5: 104,015,392 (GRCm39)	V511I	probably damaging	Het
Mcee	A	G	7: 64,061,665 (GRCm39)	H156R	possibly damaging	Het
Ncoa7	A	G	10: 30,567,725 (GRCm39)	S318P	probably benign	Het
Nhsl1	A	G	10: 18,402,487 (GRCm39)	N1208D	probably benign	Het
Or10p21	T	A	10: 128,847,766 (GRCm39)	I204K	possibly damaging	Het
Or4a15	C	T	2: 89,192,896 (GRCm39)	M292I	probably benign	Het
P2rx7	C	T	5: 122,793,096 (GRCm39)	P140S	probably damaging	Het
Plcd4	C	G	1: 74,593,660 (GRCm39)	H262D	probably benign	Het
Prps1l1	T	C	12: 35,035,140 (GRCm39)	V85A	probably damaging	Het
Prss27	G	A	17: 24,263,919 (GRCm39)	V202I	probably benign	Het
Rtn4r	A	T	16: 17,969,258 (GRCm39)	M229L	probably benign	Het
Slc43a1	A	G	2: 84,690,167 (GRCm39)	H491R	possibly damaging	Het
Slc44a2	A	G	9: 21,253,481 (GRCm39)	D83G	probably benign	Het
Spag6l	A	G	16: 16,580,889 (GRCm39)	V486A	probably damaging	Het
Sspo	A	T	6: 48,460,436 (GRCm39)	Q3408L	possibly damaging	Het
Tasor2	T	C	13: 3,624,388 (GRCm39)	D1854G	probably benign	Het
Tjp3	G	A	10: 81,109,641 (GRCm39)	T854I	probably benign	Het
Tmsb10b	A	C	7: 24,561,805 (GRCm39)	I35L	probably benign	Het
Trim30a	C	T	7: 104,070,663 (GRCm39)	G250D	probably benign	Het
Ttll1	G	T	15: 83,376,783 (GRCm39)	D313E	probably damaging	Het
Zfp160	A	T	17: 21,246,350 (GRCm39)	N300I	probably damaging	Het
Zfp458	C	T	13: 67,406,190 (GRCm39)	C83Y	probably damaging	Het
Zmym4	A	T	4: 126,798,188 (GRCm39)		probably null	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
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
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'- CTGCAACTTCAAGTACAGGC -3'
(R):5'- TTGGCCAGTGTCAGCTCAAG -3'

Sequencing Primer
(F):5'- GCAACTTCAAGTACAGGCTGTATGTC -3'
(R):5'- TCAGCTCAAGGTCATCGATG -3'

Posted On

2020-07-28