Mutagenetix > Incidental Mutation

Incidental Mutation 'R7926:Myh8'

643335

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

045973-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R7926 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

67167950-67199460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67169732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 17 (P17L)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

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

AlphaFold

P13542

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019625
AA Change: P17L

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: P17L

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

possibly damaging
Transcript: ENSMUST00000108685
AA Change: P17L

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104325
Gene: ENSMUSG00000055775
AA Change: P17L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
BC016579	C	A	16: 45,449,825 (GRCm39)	D198Y	probably damaging	Het
Cep170	A	G	1: 176,588,979 (GRCm39)	S549P	probably damaging	Het
Cnih3	T	C	1: 181,277,566 (GRCm39)	L96P	probably damaging	Het
Cnn2	T	A	10: 79,829,160 (GRCm39)	L168Q	probably damaging	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Cnot10	A	G	9: 114,446,883 (GRCm39)	C398R	probably damaging	Het
Dcaf4	C	A	12: 83,580,703 (GRCm39)	Y212*	probably null	Het
Dmxl2	T	C	9: 54,335,326 (GRCm39)	T665A	probably benign	Het
Dnmt1	C	A	9: 20,818,855 (GRCm39)	A1609S	unknown	Het
Dzip1	T	C	14: 119,120,911 (GRCm39)	D682G	probably benign	Het
Fam76a	A	G	4: 132,629,405 (GRCm39)	L249P	probably damaging	Het
Fgf10	T	C	13: 118,925,752 (GRCm39)	M177T	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Hoxa13	CG	CGAG	6: 52,237,619 (GRCm39)		probably null	Het
Itln1	G	A	1: 171,359,261 (GRCm39)	T73I	probably benign	Het
Jkamp	T	C	12: 72,141,590 (GRCm39)	Y197H	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lcor	T	C	19: 41,571,008 (GRCm39)	F67S	probably benign	Het
Lmf2	G	A	15: 89,236,624 (GRCm39)	P514L	probably damaging	Het
Lmntd2	G	T	7: 140,790,258 (GRCm39)	P610Q	probably damaging	Het
Map3k3	T	C	11: 106,036,548 (GRCm39)	S225P	probably damaging	Het
Mbd5	T	C	2: 49,146,335 (GRCm39)	Y182H	probably damaging	Het
Mki67	A	G	7: 135,298,869 (GRCm39)	V2055A	possibly damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myt1l	T	A	12: 29,861,651 (GRCm39)	D144E	unknown	Het
Nfatc1	T	C	18: 80,740,881 (GRCm39)	Y373C	probably damaging	Het
Pacs2	C	T	12: 113,024,372 (GRCm39)	L418F	probably damaging	Het
Paxip1	A	G	5: 27,996,207 (GRCm39)	I24T	unknown	Het
Pdcl	C	T	2: 37,242,249 (GRCm39)	G167E	probably damaging	Het
Pdcl	A	C	2: 37,242,251 (GRCm39)	S166R	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Qsox1	C	T	1: 155,688,533 (GRCm39)	G5S	unknown	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Sass6	T	A	3: 116,422,419 (GRCm39)	S641T	possibly damaging	Het
Six1	T	C	12: 73,090,583 (GRCm39)	N194S	probably benign	Het
Tagap	T	C	17: 8,145,770 (GRCm39)		probably null	Het
Tiparp	T	C	3: 65,460,946 (GRCm39)	V645A	possibly damaging	Het
Tm2d2	T	C	8: 25,510,480 (GRCm39)	V113A	probably damaging	Het
Tmprss6	C	A	15: 78,337,050 (GRCm39)	R352L	probably benign	Het
Tslp	A	G	18: 32,950,246 (GRCm39)	E105G	possibly damaging	Het
Ttc41	A	G	10: 86,611,911 (GRCm39)	E1093G	probably benign	Het
Ush2a	G	A	1: 188,460,797 (GRCm39)	R2686H	probably benign	Het
Usp54	A	T	14: 20,627,036 (GRCm39)	Y541N	probably damaging	Het
Vmn2r125	A	G	4: 156,702,988 (GRCm39)	D122G	probably damaging	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
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
R8795:Myh8	UTSW	11	67,174,203 (GRCm39)	critical splice acceptor site	probably benign
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'- CGAGGACACTTGCCAAGTTC -3'
(R):5'- GCCTCTAGATTGAGCCAGAG -3'

Sequencing Primer
(F):5'- GGACACTTGCCAAGTTCTAAAACTGG -3'
(R):5'- TTGAGCCAGAGAAATGATCCC -3'

Posted On

2020-08-07