Mutagenetix > Incidental Mutation

Incidental Mutation 'R8795:Myh8'

671211

Institutional Source

Beutler Lab

Gene Symbol

Myh8

Ensembl Gene

ENSMUSG00000055775

Gene Name

myosin, heavy polypeptide 8, skeletal muscle, perinatal

Synonyms

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

MMRRC Submission

068636-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R8795 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67167950-67199460 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to T at 67174203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019625] [ENSMUST00000108685]

AlphaFold

P13542

Predicted Effect

probably benign
Transcript: ENSMUST00000019625

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108685

SMART Domains

Protein: ENSMUSP00000104325
Gene: ENSMUSG00000055775

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	37	78	3.8e-17	PFAM
Pfam:Myosin_head	90	172	1.7e-31	PFAM

Meta Mutation Damage Score

0.1117

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (72/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,818,598 (GRCm39)	M128L	probably damaging	Het
Abcc12	A	G	8: 87,258,213 (GRCm39)	S768P	possibly damaging	Het
Adamts8	A	T	9: 30,854,484 (GRCm39)	M118L	probably benign	Het
Adgrl4	A	G	3: 151,216,416 (GRCm39)	N533S	probably benign	Het
Agk	T	G	6: 40,363,854 (GRCm39)	I278R	possibly damaging	Het
Atr	T	A	9: 95,749,584 (GRCm39)	W466R	probably damaging	Het
Cacna1h	C	T	17: 25,612,538 (GRCm39)	V387I	probably damaging	Het
Cand2	T	G	6: 115,763,889 (GRCm39)	D270E	probably benign	Het
Ccdc107	C	T	4: 43,495,514 (GRCm39)	T139M	probably damaging	Het
Cenpl	A	G	1: 160,910,584 (GRCm39)	E177G	probably benign	Het
Clint1	C	A	11: 45,775,178 (GRCm39)	Q56K	probably damaging	Het
Col9a1	A	G	1: 24,233,812 (GRCm39)	R249G	unknown	Het
Cpne5	C	T	17: 29,423,662 (GRCm39)		probably benign	Het
Ddx27	A	G	2: 166,859,730 (GRCm39)	D54G	probably benign	Het
Dync2h1	C	T	9: 7,137,087 (GRCm39)	E1468K	probably benign	Het
E130308A19Rik	A	T	4: 59,737,676 (GRCm39)	N429I	possibly damaging	Het
Endov	G	T	11: 119,390,380 (GRCm39)	G86C	possibly damaging	Het
Ercc5	A	T	1: 44,203,089 (GRCm39)	Y242F	possibly damaging	Het
Gabrr1	T	A	4: 33,161,756 (GRCm39)	V360E	probably damaging	Het
Gcn1	T	C	5: 115,752,454 (GRCm39)	I2153T	probably benign	Het
Gje1	T	C	10: 14,593,870 (GRCm39)	N8S	probably benign	Het
Greb1l	A	G	18: 10,553,739 (GRCm39)	H1580R	probably damaging	Het
Grin1	C	G	2: 25,187,468 (GRCm39)	S614T	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ifitm2	A	T	7: 140,535,661 (GRCm39)	H56Q	probably damaging	Het
Ifrd1	G	A	12: 40,263,076 (GRCm39)	T218I	possibly damaging	Het
Igkv1-99	G	T	6: 68,519,370 (GRCm39)	G109V		Het
Impg2	A	G	16: 56,080,611 (GRCm39)	E805G	probably benign	Het
Itgb6	T	A	2: 60,483,629 (GRCm39)	N260Y	probably damaging	Het
Maneal	G	T	4: 124,750,483 (GRCm39)	Y424*	probably null	Het
Map4k2	T	G	19: 6,401,640 (GRCm39)	C677W	probably damaging	Het
Med6	T	C	12: 81,638,034 (GRCm39)	H59R	probably benign	Het
Mms22l	T	A	4: 24,536,245 (GRCm39)	D571E	probably benign	Het
Mroh8	A	G	2: 157,067,493 (GRCm39)	F622S	probably damaging	Het
Mrpl44	A	T	1: 79,753,974 (GRCm39)	Q42L	probably damaging	Het
Ndufb2	T	C	6: 39,569,586 (GRCm39)	V13A	probably benign	Het
Nf1	T	A	11: 79,316,442 (GRCm39)	L499Q	probably damaging	Het
Opa1	T	C	16: 29,448,450 (GRCm39)	C874R	probably damaging	Het
Or1i2	T	C	10: 78,447,698 (GRCm39)	Y259C	probably damaging	Het
Or4c99	T	G	2: 88,329,855 (GRCm39)	V142G	probably damaging	Het
Or4k37	T	A	2: 111,158,881 (GRCm39)	L39*	probably null	Het
Or6c6	T	C	10: 129,187,194 (GRCm39)	I254T	probably damaging	Het
Pld3	T	A	7: 27,235,286 (GRCm39)	D314V	possibly damaging	Het
Pou6f1	A	C	15: 100,485,686 (GRCm39)	C114W	possibly damaging	Het
Prl2c1	A	C	13: 28,033,389 (GRCm39)	Q2P	possibly damaging	Het
Prl2c1	G	T	13: 28,033,390 (GRCm39)	Q2H	probably benign	Het
Pzp	C	A	6: 128,471,701 (GRCm39)	K908N	probably damaging	Het
Rab6b	G	A	9: 103,039,825 (GRCm39)	G125D	probably damaging	Het
Rhbdd2	C	T	5: 135,663,985 (GRCm39)	T69I	probably benign	Het
Samd9l	A	T	6: 3,374,221 (GRCm39)	Y1013*	probably null	Het
Slc13a4	T	A	6: 35,260,230 (GRCm39)	T217S	probably benign	Het
Slc66a3	A	G	12: 17,043,481 (GRCm39)	W150R	probably damaging	Het
Smarcad1	T	C	6: 65,049,033 (GRCm39)	L253S	probably benign	Het
Snrpa	C	A	7: 26,891,034 (GRCm39)	V146L	possibly damaging	Het
Spata31f1e	A	G	4: 42,792,992 (GRCm39)	V380A	probably benign	Het
Srrt	A	T	5: 137,298,238 (GRCm39)	D311E	probably benign	Het
Stk32b	A	T	5: 37,806,483 (GRCm39)	F20L	probably damaging	Het
Sult2a7	T	C	7: 14,224,014 (GRCm39)	T136A	probably benign	Het
Sv2a	G	A	3: 96,094,396 (GRCm39)	V244I	probably benign	Het
Tesk1	T	A	4: 43,446,070 (GRCm39)		probably null	Het
Tmem260	A	G	14: 48,689,370 (GRCm39)	H63R	probably damaging	Het
Ugt1a6b	A	G	1: 88,034,794 (GRCm39)	E44G	probably benign	Het
Unc79	A	T	12: 103,074,513 (GRCm39)	I1363F	probably damaging	Het
Usp15	T	A	10: 122,988,953 (GRCm39)	N255Y	probably benign	Het
Usp35	A	G	7: 96,961,167 (GRCm39)	V753A	possibly damaging	Het
Usp35	T	C	7: 96,961,270 (GRCm39)	N719D	probably benign	Het
Vmn2r104	T	A	17: 20,262,988 (GRCm39)	I158L	probably benign	Het
Vmn2r69	A	T	7: 85,064,883 (GRCm39)	M1K	probably null	Het
Zan	C	T	5: 137,396,522 (GRCm39)	E4345K	unknown	Het
Zc3h7a	A	T	16: 10,965,147 (GRCm39)	M662K	possibly damaging	Het
Zfp512	G	A	5: 31,634,134 (GRCm39)	V438M	probably damaging	Het
Zfy1	T	C	Y: 738,945 (GRCm39)	D87G	unknown	Het
Zmym4	A	T	4: 126,799,819 (GRCm39)	V653E	probably benign	Het

Other mutations in Myh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Myh8	APN	11	67,174,644 (GRCm39)	missense	probably damaging	0.97
IGL01020:Myh8	APN	11	67,174,229 (GRCm39)	missense	probably damaging	0.99
IGL01348:Myh8	APN	11	67,188,606 (GRCm39)	missense	probably damaging	1.00
IGL01382:Myh8	APN	11	67,192,799 (GRCm39)	missense	probably damaging	1.00
IGL01454:Myh8	APN	11	67,174,422 (GRCm39)	missense	probably damaging	1.00
IGL01457:Myh8	APN	11	67,183,505 (GRCm39)	missense	probably benign	0.00
IGL01472:Myh8	APN	11	67,179,205 (GRCm39)	splice site	probably benign
IGL01473:Myh8	APN	11	67,192,651 (GRCm39)	critical splice donor site	probably null
IGL01613:Myh8	APN	11	67,192,536 (GRCm39)	missense	probably benign	0.11
IGL01763:Myh8	APN	11	67,177,245 (GRCm39)	missense	probably benign	0.01
IGL01828:Myh8	APN	11	67,194,652 (GRCm39)	missense	possibly damaging	0.82
IGL01862:Myh8	APN	11	67,180,520 (GRCm39)	nonsense	probably null
IGL01905:Myh8	APN	11	67,175,477 (GRCm39)	missense	possibly damaging	0.90
IGL02280:Myh8	APN	11	67,174,198 (GRCm39)	unclassified	probably benign
IGL02386:Myh8	APN	11	67,185,266 (GRCm39)	missense	probably damaging	0.99
IGL02449:Myh8	APN	11	67,185,440 (GRCm39)	critical splice donor site	probably null
IGL02500:Myh8	APN	11	67,196,536 (GRCm39)	missense	probably benign	0.00
IGL02745:Myh8	APN	11	67,188,327 (GRCm39)	missense	possibly damaging	0.88
IGL02799:Myh8	APN	11	67,192,418 (GRCm39)	splice site	probably benign
IGL03063:Myh8	APN	11	67,179,031 (GRCm39)	missense	probably benign	0.00
IGL03223:Myh8	APN	11	67,174,644 (GRCm39)	missense	probably damaging	0.97
IGL03336:Myh8	APN	11	67,175,528 (GRCm39)	missense	probably damaging	1.00
IGL03338:Myh8	APN	11	67,189,172 (GRCm39)	missense	probably damaging	1.00
IGL03351:Myh8	APN	11	67,194,739 (GRCm39)	missense	possibly damaging	0.94
IGL03392:Myh8	APN	11	67,185,244 (GRCm39)	missense	probably damaging	1.00
BB003:Myh8	UTSW	11	67,169,732 (GRCm39)	missense	possibly damaging	0.94
BB009:Myh8	UTSW	11	67,185,430 (GRCm39)	missense	probably benign	0.00
BB013:Myh8	UTSW	11	67,169,732 (GRCm39)	missense	possibly damaging	0.94
BB019:Myh8	UTSW	11	67,185,430 (GRCm39)	missense	probably benign	0.00
PIT4354001:Myh8	UTSW	11	67,180,456 (GRCm39)	missense	probably benign	0.01
R0012:Myh8	UTSW	11	67,190,847 (GRCm39)	missense	probably benign	0.02
R0016:Myh8	UTSW	11	67,189,351 (GRCm39)	missense	probably damaging	1.00
R0016:Myh8	UTSW	11	67,189,351 (GRCm39)	missense	probably damaging	1.00
R0115:Myh8	UTSW	11	67,197,090 (GRCm39)	splice site	probably benign
R0131:Myh8	UTSW	11	67,183,014 (GRCm39)	missense	probably damaging	0.96
R0131:Myh8	UTSW	11	67,183,014 (GRCm39)	missense	probably damaging	0.96
R0132:Myh8	UTSW	11	67,183,014 (GRCm39)	missense	probably damaging	0.96
R0238:Myh8	UTSW	11	67,192,518 (GRCm39)	missense	probably benign	0.00
R0238:Myh8	UTSW	11	67,192,518 (GRCm39)	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67,192,518 (GRCm39)	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67,192,518 (GRCm39)	missense	probably benign	0.00
R0393:Myh8	UTSW	11	67,196,843 (GRCm39)	splice site	probably benign
R0453:Myh8	UTSW	11	67,183,731 (GRCm39)	missense	probably benign	0.03
R0454:Myh8	UTSW	11	67,194,591 (GRCm39)	nonsense	probably null
R0466:Myh8	UTSW	11	67,189,405 (GRCm39)	missense	probably benign	0.01
R0487:Myh8	UTSW	11	67,192,837 (GRCm39)	missense	probably benign
R0511:Myh8	UTSW	11	67,175,333 (GRCm39)	missense	probably benign	0.01
R0557:Myh8	UTSW	11	67,192,624 (GRCm39)	missense	possibly damaging	0.88
R0589:Myh8	UTSW	11	67,189,453 (GRCm39)	missense	probably benign	0.00
R0658:Myh8	UTSW	11	67,175,358 (GRCm39)	critical splice donor site	probably null
R0782:Myh8	UTSW	11	67,180,580 (GRCm39)	missense	probably benign	0.16
R0829:Myh8	UTSW	11	67,174,326 (GRCm39)	unclassified	probably benign
R0845:Myh8	UTSW	11	67,177,090 (GRCm39)	missense	probably damaging	1.00
R0930:Myh8	UTSW	11	67,196,824 (GRCm39)	missense	possibly damaging	0.93
R0972:Myh8	UTSW	11	67,188,585 (GRCm39)	missense	probably damaging	1.00
R1132:Myh8	UTSW	11	67,187,957 (GRCm39)	nonsense	probably null
R1417:Myh8	UTSW	11	67,197,011 (GRCm39)	missense	probably damaging	1.00
R1478:Myh8	UTSW	11	67,183,551 (GRCm39)	missense	probably benign	0.23
R1497:Myh8	UTSW	11	67,180,638 (GRCm39)	missense	probably benign	0.00
R1605:Myh8	UTSW	11	67,192,497 (GRCm39)	missense	probably damaging	0.99
R1701:Myh8	UTSW	11	67,170,964 (GRCm39)	missense	probably damaging	1.00
R1950:Myh8	UTSW	11	67,169,830 (GRCm39)	missense	possibly damaging	0.75
R1989:Myh8	UTSW	11	67,183,550 (GRCm39)	missense	probably benign	0.00
R2010:Myh8	UTSW	11	67,187,990 (GRCm39)	nonsense	probably null
R2095:Myh8	UTSW	11	67,177,050 (GRCm39)	missense	probably benign	0.00
R2132:Myh8	UTSW	11	67,183,702 (GRCm39)	missense	probably damaging	1.00
R2152:Myh8	UTSW	11	67,185,295 (GRCm39)	missense	probably damaging	0.97
R2229:Myh8	UTSW	11	67,199,174 (GRCm39)	missense	probably damaging	0.98
R2302:Myh8	UTSW	11	67,177,065 (GRCm39)	missense	probably damaging	1.00
R2364:Myh8	UTSW	11	67,185,344 (GRCm39)	missense	probably benign	0.03
R2429:Myh8	UTSW	11	67,194,723 (GRCm39)	missense	probably benign	0.21
R2880:Myh8	UTSW	11	67,188,090 (GRCm39)	missense	probably damaging	0.97
R3692:Myh8	UTSW	11	67,192,744 (GRCm39)	missense	probably damaging	0.98
R3756:Myh8	UTSW	11	67,175,443 (GRCm39)	unclassified	probably benign
R3924:Myh8	UTSW	11	67,187,963 (GRCm39)	missense	probably damaging	0.99
R4172:Myh8	UTSW	11	67,183,247 (GRCm39)	missense	probably damaging	1.00
R4255:Myh8	UTSW	11	67,190,560 (GRCm39)	missense	probably benign
R4621:Myh8	UTSW	11	67,177,084 (GRCm39)	missense	probably damaging	1.00
R4623:Myh8	UTSW	11	67,177,084 (GRCm39)	missense	probably damaging	1.00
R4790:Myh8	UTSW	11	67,170,789 (GRCm39)	missense	probably damaging	0.99
R4914:Myh8	UTSW	11	67,183,510 (GRCm39)	missense	probably damaging	1.00
R5074:Myh8	UTSW	11	67,196,742 (GRCm39)	missense	possibly damaging	0.79
R5119:Myh8	UTSW	11	67,189,184 (GRCm39)	missense	probably damaging	1.00
R5159:Myh8	UTSW	11	67,179,179 (GRCm39)	missense	probably damaging	0.99
R5229:Myh8	UTSW	11	67,175,310 (GRCm39)	missense	probably damaging	0.96
R5320:Myh8	UTSW	11	67,177,089 (GRCm39)	missense	probably damaging	1.00
R5455:Myh8	UTSW	11	67,192,244 (GRCm39)	missense	possibly damaging	0.59
R5523:Myh8	UTSW	11	67,196,788 (GRCm39)	missense	possibly damaging	0.95
R5540:Myh8	UTSW	11	67,177,266 (GRCm39)	missense	probably benign	0.00
R5726:Myh8	UTSW	11	67,185,392 (GRCm39)	missense	possibly damaging	0.79
R5770:Myh8	UTSW	11	67,188,026 (GRCm39)	missense	probably damaging	1.00
R6135:Myh8	UTSW	11	67,188,326 (GRCm39)	missense	possibly damaging	0.51
R6253:Myh8	UTSW	11	67,192,793 (GRCm39)	missense	probably benign	0.06
R6318:Myh8	UTSW	11	67,190,167 (GRCm39)	missense	probably benign	0.00
R6432:Myh8	UTSW	11	67,189,405 (GRCm39)	missense	probably benign	0.01
R6452:Myh8	UTSW	11	67,196,565 (GRCm39)	missense	possibly damaging	0.88
R6452:Myh8	UTSW	11	67,183,275 (GRCm39)	missense	probably benign	0.27
R6512:Myh8	UTSW	11	67,180,488 (GRCm39)	nonsense	probably null
R6714:Myh8	UTSW	11	67,197,775 (GRCm39)	missense	probably damaging	1.00
R6842:Myh8	UTSW	11	67,175,481 (GRCm39)	missense	probably damaging	1.00
R7007:Myh8	UTSW	11	67,179,142 (GRCm39)	missense	probably benign	0.03
R7025:Myh8	UTSW	11	67,188,365 (GRCm39)	missense	probably benign	0.02
R7086:Myh8	UTSW	11	67,183,453 (GRCm39)	splice site	probably null
R7098:Myh8	UTSW	11	67,169,879 (GRCm39)	missense	probably benign	0.03
R7498:Myh8	UTSW	11	67,174,263 (GRCm39)	missense	possibly damaging	0.80
R7716:Myh8	UTSW	11	67,189,478 (GRCm39)	missense	possibly damaging	0.51
R7765:Myh8	UTSW	11	67,194,481 (GRCm39)	missense	probably benign	0.44
R7825:Myh8	UTSW	11	67,194,538 (GRCm39)	missense	possibly damaging	0.94
R7921:Myh8	UTSW	11	67,174,644 (GRCm39)	missense	probably damaging	0.97
R7926:Myh8	UTSW	11	67,169,732 (GRCm39)	missense	possibly damaging	0.94
R7932:Myh8	UTSW	11	67,185,430 (GRCm39)	missense	probably benign	0.00
R8003:Myh8	UTSW	11	67,190,586 (GRCm39)	missense	probably damaging	1.00
R8028:Myh8	UTSW	11	67,194,502 (GRCm39)	missense	possibly damaging	0.65
R8121:Myh8	UTSW	11	67,180,647 (GRCm39)	missense	probably benign	0.00
R8125:Myh8	UTSW	11	67,190,598 (GRCm39)	missense	possibly damaging	0.94
R8170:Myh8	UTSW	11	67,179,092 (GRCm39)	missense	probably benign	0.30
R8277:Myh8	UTSW	11	67,183,735 (GRCm39)	missense	probably benign	0.10
R8304:Myh8	UTSW	11	67,195,162 (GRCm39)	missense	possibly damaging	0.72
R8431:Myh8	UTSW	11	67,174,440 (GRCm39)	missense	possibly damaging	0.94
R8535:Myh8	UTSW	11	67,169,741 (GRCm39)	missense	probably damaging	1.00
R8858:Myh8	UTSW	11	67,192,820 (GRCm39)	missense	possibly damaging	0.67
R8927:Myh8	UTSW	11	67,174,081 (GRCm39)	missense	probably benign	0.10
R8928:Myh8	UTSW	11	67,174,081 (GRCm39)	missense	probably benign	0.10
R9031:Myh8	UTSW	11	67,190,141 (GRCm39)	missense	possibly damaging	0.49
R9172:Myh8	UTSW	11	67,183,260 (GRCm39)	missense	possibly damaging	0.82
R9252:Myh8	UTSW	11	67,177,302 (GRCm39)	missense	probably damaging	1.00
R9365:Myh8	UTSW	11	67,174,632 (GRCm39)	missense	probably benign	0.42
R9468:Myh8	UTSW	11	67,197,730 (GRCm39)	missense	probably damaging	1.00
R9564:Myh8	UTSW	11	67,177,215 (GRCm39)	missense	probably benign	0.40
R9565:Myh8	UTSW	11	67,177,215 (GRCm39)	missense	probably benign	0.40
T0722:Myh8	UTSW	11	67,195,262 (GRCm39)	missense	probably benign	0.41
Z1088:Myh8	UTSW	11	67,189,418 (GRCm39)	missense	probably damaging	1.00
Z1176:Myh8	UTSW	11	67,194,500 (GRCm39)	missense	probably damaging	1.00
Z1177:Myh8	UTSW	11	67,199,181 (GRCm39)	missense	possibly damaging	0.64
Z1177:Myh8	UTSW	11	67,192,250 (GRCm39)	missense	probably damaging	0.99
Z1187:Myh8	UTSW	11	67,188,312 (GRCm39)	missense	probably benign
Z1188:Myh8	UTSW	11	67,188,312 (GRCm39)	missense	probably benign
Z1190:Myh8	UTSW	11	67,188,312 (GRCm39)	missense	probably benign
Z1191:Myh8	UTSW	11	67,188,312 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGAGTCGATGAGTCTGGGATC -3'
(R):5'- CAGTCTTTGCATCTGGGGATCC -3'

Sequencing Primer
(F):5'- CGATGAGTCTGGGATCACCTGTC -3'
(R):5'- CATCTGGGGATCCAAACTTCTGG -3'

Posted On

2021-04-30