Mutagenetix > Incidental Mutation

Incidental Mutation 'R0239:Myh8'

59244

Institutional Source

Beutler Lab

Gene Symbol

Myh8

Ensembl Gene

ENSMUSG00000055775

Gene Name

myosin, heavy polypeptide 8, skeletal muscle, perinatal

Synonyms

Myhsp, 4832426G23Rik, MyHC-pn, Myhs-p

MMRRC Submission

038477-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.818) question?

Stock #

R0239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67301692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1466 (T1466A)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019625]

AlphaFold

P13542

Predicted Effect

probably benign
Transcript: ENSMUST00000019625
AA Change: T1466A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: T1466A

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	37	76	2.1e-13	PFAM
MYSc	82	782	N/A	SMART
IQ	783	805	5.44e-3	SMART
Pfam:Myosin_tail_1	846	1927	2.4e-164	PFAM

Meta Mutation Damage Score

0.0815

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: This gene encodes a myosin heavy chain. The encoded protein forms a hexamer with two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. This gene is located in a cluster of related genes on chromosome 11. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	A	2: 131,546,214 (GRCm38)	V474F	probably benign	Het
Alg8	A	T	7: 97,383,684 (GRCm38)		probably null	Het
Ash1l	A	G	3: 89,067,222 (GRCm38)	D2618G	possibly damaging	Het
Atp6v1c2	C	A	12: 17,294,675 (GRCm38)		probably null	Het
Cacna1d	A	G	14: 30,123,496 (GRCm38)	V572A	probably benign	Het
Camta1	A	G	4: 151,143,730 (GRCm38)	W882R	probably damaging	Het
Cd72	A	G	4: 43,453,163 (GRCm38)	V91A	probably benign	Het
Cdh12	T	C	15: 21,586,407 (GRCm38)	W771R	probably damaging	Het
Cdx2	G	T	5: 147,303,287 (GRCm38)	T193K	probably damaging	Het
Cfap70	A	C	14: 20,448,605 (GRCm38)	S5A	probably benign	Het
Chmp7	A	G	14: 69,720,997 (GRCm38)	V241A	probably damaging	Het
Col4a1	C	T	8: 11,218,780 (GRCm38)		probably benign	Het
D3Ertd751e	A	G	3: 41,753,878 (GRCm38)	Y150C	probably damaging	Het
Depdc5	T	C	5: 32,943,240 (GRCm38)	S832P	probably damaging	Het
Dnhd1	A	G	7: 105,721,531 (GRCm38)	S4673G	probably benign	Het
Dock4	G	T	12: 40,737,540 (GRCm38)	S818I	probably damaging	Het
Dysf	C	T	6: 84,064,479 (GRCm38)	Q156*	probably null	Het
Espnl	T	C	1: 91,322,287 (GRCm38)	V52A	probably damaging	Het
Flcn	T	C	11: 59,801,076 (GRCm38)	N249S	probably benign	Het
Gemin6	C	A	17: 80,225,710 (GRCm38)	A24D	probably damaging	Het
Gm5773	A	G	3: 93,774,032 (GRCm38)	H337R	probably benign	Het
Gm9733	A	G	3: 15,296,601 (GRCm38)	L163P	probably damaging	Het
Greb1l	C	T	18: 10,458,567 (GRCm38)		probably benign	Het
Hal	T	C	10: 93,503,482 (GRCm38)	S478P	possibly damaging	Het
Hectd1	T	A	12: 51,769,318 (GRCm38)	M1324L	possibly damaging	Het
Hyal5	T	A	6: 24,876,344 (GRCm38)	L72Q	probably damaging	Het
Ift140	C	A	17: 25,045,523 (GRCm38)	C557*	probably null	Het
Ikbkap	C	A	4: 56,784,596 (GRCm38)	V466L	probably benign	Het
Il4ra	T	C	7: 125,575,199 (GRCm38)		probably benign	Het
Ipo9	A	G	1: 135,404,336 (GRCm38)		probably benign	Het
Kbtbd3	G	T	9: 4,330,144 (GRCm38)	V173L	possibly damaging	Het
Kif14	A	G	1: 136,527,393 (GRCm38)	E1551G	probably damaging	Het
Klc1	A	G	12: 111,785,324 (GRCm38)		probably benign	Het
Krt17	G	A	11: 100,260,878 (GRCm38)	R30*	probably null	Het
Lamb3	A	T	1: 193,321,053 (GRCm38)	D100V	probably damaging	Het
Lrmp	G	A	6: 145,171,978 (GRCm38)		probably benign	Het
Map2	A	G	1: 66,416,106 (GRCm38)	D1385G	probably damaging	Het
Mettl25	C	T	10: 105,826,525 (GRCm38)	V195I	probably damaging	Het
Mfsd7a	G	T	5: 108,444,016 (GRCm38)		probably benign	Het
Micu2	G	A	14: 57,917,378 (GRCm38)		probably benign	Het
Mrrf	T	C	2: 36,177,281 (GRCm38)		probably benign	Het
Myo3b	T	A	2: 70,105,425 (GRCm38)	C61S	probably benign	Het
Nacc2	T	G	2: 26,062,261 (GRCm38)	N361T	probably damaging	Het
Nf1	A	T	11: 79,418,574 (GRCm38)	K438M	possibly damaging	Het
Nipal4	A	G	11: 46,150,441 (GRCm38)	V309A	possibly damaging	Het
Nomo1	T	C	7: 46,079,594 (GRCm38)		probably null	Het
Nubp2	T	C	17: 24,884,471 (GRCm38)	E144G	probably damaging	Het
Nwd2	A	T	5: 63,800,124 (GRCm38)	I266F	probably benign	Het
Olfr1126	T	C	2: 87,458,037 (GRCm38)	F291L	probably benign	Het
Olfr593	G	A	7: 103,212,726 (GRCm38)	V289M	possibly damaging	Het
Olfr694	A	G	7: 106,689,255 (GRCm38)	Y159H	probably benign	Het
Orc1	T	C	4: 108,595,646 (GRCm38)		probably null	Het
Otogl	T	A	10: 107,806,696 (GRCm38)	N1291I	probably damaging	Het
Pah	C	T	10: 87,567,281 (GRCm38)	P173S	possibly damaging	Het
Pga5	A	G	19: 10,669,453 (GRCm38)	Y305H	probably damaging	Het
Plekha4	A	G	7: 45,532,358 (GRCm38)	H62R	probably damaging	Het
Plxnd1	G	T	6: 115,968,793 (GRCm38)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,329,189 (GRCm38)	E98G	possibly damaging	Het
Ptk2	A	T	15: 73,343,283 (GRCm38)		probably null	Het
Pzp	C	T	6: 128,489,156 (GRCm38)		probably benign	Het
Raet1c	C	A	10: 22,180,862 (GRCm38)	H112Q	possibly damaging	Het
Scai	T	A	2: 39,075,042 (GRCm38)	I597F	probably benign	Het
Scgb1b2	T	A	7: 31,291,730 (GRCm38)		probably benign	Het
Sec31b	G	A	19: 44,525,469 (GRCm38)		probably benign	Het
Slc35c2	C	T	2: 165,280,837 (GRCm38)	G176S	probably damaging	Het
Slc35f4	A	T	14: 49,304,256 (GRCm38)	I347N	possibly damaging	Het
Slc52a3	T	C	2: 152,008,156 (GRCm38)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,302,800 (GRCm38)	V142I	probably benign	Het
Tbc1d31	C	A	15: 57,940,753 (GRCm38)	T388N	probably benign	Het
Tmem131	T	C	1: 36,828,050 (GRCm38)		probably benign	Het
Tmem63c	T	C	12: 87,075,639 (GRCm38)	W404R	probably damaging	Het
Tmem79	A	G	3: 88,333,321 (GRCm38)	S107P	probably benign	Het
Trip11	C	T	12: 101,884,728 (GRCm38)	E741K	probably damaging	Het
Trpm5	G	T	7: 143,082,958 (GRCm38)	T414N	probably damaging	Het
Tsnaxip1	T	A	8: 105,844,488 (GRCm38)	I660N	possibly damaging	Het
Ube2q2	T	C	9: 55,163,007 (GRCm38)	S78P	probably damaging	Het
Vac14	A	T	8: 110,635,375 (GRCm38)		probably null	Het
Vps51	G	T	19: 6,071,437 (GRCm38)	S185*	probably null	Het
Zfp11	C	T	5: 129,658,238 (GRCm38)	G53E	possibly damaging	Het
Zfp532	A	T	18: 65,682,985 (GRCm38)	I810F	possibly damaging	Het
Zfp599	C	T	9: 22,249,759 (GRCm38)	C370Y	probably damaging	Het

Other mutations in Myh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Myh8	APN	11	67,283,818 (GRCm38)	missense	probably damaging	0.97
IGL01020:Myh8	APN	11	67,283,403 (GRCm38)	missense	probably damaging	0.99
IGL01348:Myh8	APN	11	67,297,780 (GRCm38)	missense	probably damaging	1.00
IGL01382:Myh8	APN	11	67,301,973 (GRCm38)	missense	probably damaging	1.00
IGL01454:Myh8	APN	11	67,283,596 (GRCm38)	missense	probably damaging	1.00
IGL01457:Myh8	APN	11	67,292,679 (GRCm38)	missense	probably benign	0.00
IGL01472:Myh8	APN	11	67,288,379 (GRCm38)	splice site	probably benign
IGL01473:Myh8	APN	11	67,301,825 (GRCm38)	critical splice donor site	probably null
IGL01613:Myh8	APN	11	67,301,710 (GRCm38)	missense	probably benign	0.11
IGL01763:Myh8	APN	11	67,286,419 (GRCm38)	missense	probably benign	0.01
IGL01828:Myh8	APN	11	67,303,826 (GRCm38)	missense	possibly damaging	0.82
IGL01862:Myh8	APN	11	67,289,694 (GRCm38)	nonsense	probably null
IGL01905:Myh8	APN	11	67,284,651 (GRCm38)	missense	possibly damaging	0.90
IGL02280:Myh8	APN	11	67,283,372 (GRCm38)	unclassified	probably benign
IGL02386:Myh8	APN	11	67,294,440 (GRCm38)	missense	probably damaging	0.99
IGL02449:Myh8	APN	11	67,294,614 (GRCm38)	critical splice donor site	probably null
IGL02500:Myh8	APN	11	67,305,710 (GRCm38)	missense	probably benign	0.00
IGL02745:Myh8	APN	11	67,297,501 (GRCm38)	missense	possibly damaging	0.88
IGL02799:Myh8	APN	11	67,301,592 (GRCm38)	splice site	probably benign
IGL03063:Myh8	APN	11	67,288,205 (GRCm38)	missense	probably benign	0.00
IGL03223:Myh8	APN	11	67,283,818 (GRCm38)	missense	probably damaging	0.97
IGL03336:Myh8	APN	11	67,284,702 (GRCm38)	missense	probably damaging	1.00
IGL03338:Myh8	APN	11	67,298,346 (GRCm38)	missense	probably damaging	1.00
IGL03351:Myh8	APN	11	67,303,913 (GRCm38)	missense	possibly damaging	0.94
IGL03392:Myh8	APN	11	67,294,418 (GRCm38)	missense	probably damaging	1.00
BB003:Myh8	UTSW	11	67,278,906 (GRCm38)	missense	possibly damaging	0.94
BB009:Myh8	UTSW	11	67,294,604 (GRCm38)	missense	probably benign	0.00
BB013:Myh8	UTSW	11	67,278,906 (GRCm38)	missense	possibly damaging	0.94
BB019:Myh8	UTSW	11	67,294,604 (GRCm38)	missense	probably benign	0.00
PIT4354001:Myh8	UTSW	11	67,289,630 (GRCm38)	missense	probably benign	0.01
R0012:Myh8	UTSW	11	67,300,021 (GRCm38)	missense	probably benign	0.02
R0016:Myh8	UTSW	11	67,298,525 (GRCm38)	missense	probably damaging	1.00
R0016:Myh8	UTSW	11	67,298,525 (GRCm38)	missense	probably damaging	1.00
R0115:Myh8	UTSW	11	67,306,264 (GRCm38)	splice site	probably benign
R0131:Myh8	UTSW	11	67,292,188 (GRCm38)	missense	probably damaging	0.96
R0131:Myh8	UTSW	11	67,292,188 (GRCm38)	missense	probably damaging	0.96
R0132:Myh8	UTSW	11	67,292,188 (GRCm38)	missense	probably damaging	0.96
R0238:Myh8	UTSW	11	67,301,692 (GRCm38)	missense	probably benign	0.00
R0238:Myh8	UTSW	11	67,301,692 (GRCm38)	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67,301,692 (GRCm38)	missense	probably benign	0.00
R0393:Myh8	UTSW	11	67,306,017 (GRCm38)	splice site	probably benign
R0453:Myh8	UTSW	11	67,292,905 (GRCm38)	missense	probably benign	0.03
R0454:Myh8	UTSW	11	67,303,765 (GRCm38)	nonsense	probably null
R0466:Myh8	UTSW	11	67,298,579 (GRCm38)	missense	probably benign	0.01
R0487:Myh8	UTSW	11	67,302,011 (GRCm38)	missense	probably benign
R0511:Myh8	UTSW	11	67,284,507 (GRCm38)	missense	probably benign	0.01
R0557:Myh8	UTSW	11	67,301,798 (GRCm38)	missense	possibly damaging	0.88
R0589:Myh8	UTSW	11	67,298,627 (GRCm38)	missense	probably benign	0.00
R0658:Myh8	UTSW	11	67,284,532 (GRCm38)	critical splice donor site	probably null
R0782:Myh8	UTSW	11	67,289,754 (GRCm38)	missense	probably benign	0.16
R0829:Myh8	UTSW	11	67,283,500 (GRCm38)	unclassified	probably benign
R0845:Myh8	UTSW	11	67,286,264 (GRCm38)	missense	probably damaging	1.00
R0930:Myh8	UTSW	11	67,305,998 (GRCm38)	missense	possibly damaging	0.93
R0972:Myh8	UTSW	11	67,297,759 (GRCm38)	missense	probably damaging	1.00
R1132:Myh8	UTSW	11	67,297,131 (GRCm38)	nonsense	probably null
R1417:Myh8	UTSW	11	67,306,185 (GRCm38)	missense	probably damaging	1.00
R1478:Myh8	UTSW	11	67,292,725 (GRCm38)	missense	probably benign	0.23
R1497:Myh8	UTSW	11	67,289,812 (GRCm38)	missense	probably benign	0.00
R1605:Myh8	UTSW	11	67,301,671 (GRCm38)	missense	probably damaging	0.99
R1701:Myh8	UTSW	11	67,280,138 (GRCm38)	missense	probably damaging	1.00
R1950:Myh8	UTSW	11	67,279,004 (GRCm38)	missense	possibly damaging	0.75
R1989:Myh8	UTSW	11	67,292,724 (GRCm38)	missense	probably benign	0.00
R2010:Myh8	UTSW	11	67,297,164 (GRCm38)	nonsense	probably null
R2095:Myh8	UTSW	11	67,286,224 (GRCm38)	missense	probably benign	0.00
R2132:Myh8	UTSW	11	67,292,876 (GRCm38)	missense	probably damaging	1.00
R2152:Myh8	UTSW	11	67,294,469 (GRCm38)	missense	probably damaging	0.97
R2229:Myh8	UTSW	11	67,308,348 (GRCm38)	missense	probably damaging	0.98
R2302:Myh8	UTSW	11	67,286,239 (GRCm38)	missense	probably damaging	1.00
R2364:Myh8	UTSW	11	67,294,518 (GRCm38)	missense	probably benign	0.03
R2429:Myh8	UTSW	11	67,303,897 (GRCm38)	missense	probably benign	0.21
R2880:Myh8	UTSW	11	67,297,264 (GRCm38)	missense	probably damaging	0.97
R3692:Myh8	UTSW	11	67,301,918 (GRCm38)	missense	probably damaging	0.98
R3756:Myh8	UTSW	11	67,284,617 (GRCm38)	unclassified	probably benign
R3924:Myh8	UTSW	11	67,297,137 (GRCm38)	missense	probably damaging	0.99
R4172:Myh8	UTSW	11	67,292,421 (GRCm38)	missense	probably damaging	1.00
R4255:Myh8	UTSW	11	67,299,734 (GRCm38)	missense	probably benign
R4621:Myh8	UTSW	11	67,286,258 (GRCm38)	missense	probably damaging	1.00
R4623:Myh8	UTSW	11	67,286,258 (GRCm38)	missense	probably damaging	1.00
R4790:Myh8	UTSW	11	67,279,963 (GRCm38)	missense	probably damaging	0.99
R4914:Myh8	UTSW	11	67,292,684 (GRCm38)	missense	probably damaging	1.00
R5074:Myh8	UTSW	11	67,305,916 (GRCm38)	missense	possibly damaging	0.79
R5119:Myh8	UTSW	11	67,298,358 (GRCm38)	missense	probably damaging	1.00
R5159:Myh8	UTSW	11	67,288,353 (GRCm38)	missense	probably damaging	0.99
R5229:Myh8	UTSW	11	67,284,484 (GRCm38)	missense	probably damaging	0.96
R5320:Myh8	UTSW	11	67,286,263 (GRCm38)	missense	probably damaging	1.00
R5455:Myh8	UTSW	11	67,301,418 (GRCm38)	missense	possibly damaging	0.59
R5523:Myh8	UTSW	11	67,305,962 (GRCm38)	missense	possibly damaging	0.95
R5540:Myh8	UTSW	11	67,286,440 (GRCm38)	missense	probably benign	0.00
R5726:Myh8	UTSW	11	67,294,566 (GRCm38)	missense	possibly damaging	0.79
R5770:Myh8	UTSW	11	67,297,200 (GRCm38)	missense	probably damaging	1.00
R6135:Myh8	UTSW	11	67,297,500 (GRCm38)	missense	possibly damaging	0.51
R6253:Myh8	UTSW	11	67,301,967 (GRCm38)	missense	probably benign	0.06
R6318:Myh8	UTSW	11	67,299,341 (GRCm38)	missense	probably benign	0.00
R6432:Myh8	UTSW	11	67,298,579 (GRCm38)	missense	probably benign	0.01
R6452:Myh8	UTSW	11	67,305,739 (GRCm38)	missense	possibly damaging	0.88
R6452:Myh8	UTSW	11	67,292,449 (GRCm38)	missense	probably benign	0.27
R6512:Myh8	UTSW	11	67,289,662 (GRCm38)	nonsense	probably null
R6714:Myh8	UTSW	11	67,306,949 (GRCm38)	missense	probably damaging	1.00
R6842:Myh8	UTSW	11	67,284,655 (GRCm38)	missense	probably damaging	1.00
R7007:Myh8	UTSW	11	67,288,316 (GRCm38)	missense	probably benign	0.03
R7025:Myh8	UTSW	11	67,297,539 (GRCm38)	missense	probably benign	0.02
R7086:Myh8	UTSW	11	67,292,627 (GRCm38)	splice site	probably null
R7098:Myh8	UTSW	11	67,279,053 (GRCm38)	missense	probably benign	0.03
R7498:Myh8	UTSW	11	67,283,437 (GRCm38)	missense	possibly damaging	0.80
R7716:Myh8	UTSW	11	67,298,652 (GRCm38)	missense	possibly damaging	0.51
R7765:Myh8	UTSW	11	67,303,655 (GRCm38)	missense	probably benign	0.44
R7825:Myh8	UTSW	11	67,303,712 (GRCm38)	missense	possibly damaging	0.94
R7921:Myh8	UTSW	11	67,283,818 (GRCm38)	missense	probably damaging	0.97
R7926:Myh8	UTSW	11	67,278,906 (GRCm38)	missense	possibly damaging	0.94
R7932:Myh8	UTSW	11	67,294,604 (GRCm38)	missense	probably benign	0.00
R8003:Myh8	UTSW	11	67,299,760 (GRCm38)	missense	probably damaging	1.00
R8028:Myh8	UTSW	11	67,303,676 (GRCm38)	missense	possibly damaging	0.65
R8121:Myh8	UTSW	11	67,289,821 (GRCm38)	missense	probably benign	0.00
R8125:Myh8	UTSW	11	67,299,772 (GRCm38)	missense	possibly damaging	0.94
R8170:Myh8	UTSW	11	67,288,266 (GRCm38)	missense	probably benign	0.30
R8277:Myh8	UTSW	11	67,292,909 (GRCm38)	missense	probably benign	0.10
R8304:Myh8	UTSW	11	67,304,336 (GRCm38)	missense	possibly damaging	0.72
R8431:Myh8	UTSW	11	67,283,614 (GRCm38)	missense	possibly damaging	0.94
R8535:Myh8	UTSW	11	67,278,915 (GRCm38)	missense	probably damaging	1.00
R8795:Myh8	UTSW	11	67,283,377 (GRCm38)	critical splice acceptor site	probably benign
R8858:Myh8	UTSW	11	67,301,994 (GRCm38)	missense	possibly damaging	0.67
R8927:Myh8	UTSW	11	67,283,255 (GRCm38)	missense	probably benign	0.10
R8928:Myh8	UTSW	11	67,283,255 (GRCm38)	missense	probably benign	0.10
R9031:Myh8	UTSW	11	67,299,315 (GRCm38)	missense	possibly damaging	0.49
R9172:Myh8	UTSW	11	67,292,434 (GRCm38)	missense	possibly damaging	0.82
R9252:Myh8	UTSW	11	67,286,476 (GRCm38)	missense	probably damaging	1.00
R9365:Myh8	UTSW	11	67,283,806 (GRCm38)	missense	probably benign	0.42
R9468:Myh8	UTSW	11	67,306,904 (GRCm38)	missense	probably damaging	1.00
R9564:Myh8	UTSW	11	67,286,389 (GRCm38)	missense	probably benign	0.40
R9565:Myh8	UTSW	11	67,286,389 (GRCm38)	missense	probably benign	0.40
T0722:Myh8	UTSW	11	67,304,436 (GRCm38)	missense	probably benign	0.41
Z1088:Myh8	UTSW	11	67,298,592 (GRCm38)	missense	probably damaging	1.00
Z1176:Myh8	UTSW	11	67,303,674 (GRCm38)	missense	probably damaging	1.00
Z1177:Myh8	UTSW	11	67,308,355 (GRCm38)	missense	possibly damaging	0.64
Z1177:Myh8	UTSW	11	67,301,424 (GRCm38)	missense	probably damaging	0.99
Z1187:Myh8	UTSW	11	67,297,486 (GRCm38)	missense	probably benign
Z1188:Myh8	UTSW	11	67,297,486 (GRCm38)	missense	probably benign
Z1190:Myh8	UTSW	11	67,297,486 (GRCm38)	missense	probably benign
Z1191:Myh8	UTSW	11	67,297,486 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGAAGCCGTGAACGCCAAGTG -3'
(R):5'- CGCCATTATTAGCAGCACCTACCTC -3'

Sequencing Primer
(F):5'- CTTCCCTGGAGAAGACGAAGC -3'
(R):5'- AATCTGCTCAGTCAGGTCAG -3'

Posted On

2013-07-11