Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Myh8'

82888

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

039101-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67167950-67199460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67188585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1056 (R1056G)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

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

AlphaFold

P13542

Predicted Effect

probably damaging
Transcript: ENSMUST00000019625
AA Change: R1056G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: R1056G

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

noncoding transcript
Transcript: ENSMUST00000108686

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Bco2	A	T	9: 50,447,615 (GRCm39)	D369E	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Brsk2	C	G	7: 141,547,441 (GRCm39)		probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Chrm2	T	A	6: 36,501,401 (GRCm39)	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Itga7	G	A	10: 128,778,746 (GRCm39)	R291H	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Map2k2	C	A	10: 80,955,482 (GRCm39)	D67E	probably benign	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mov10l1	T	C	15: 88,905,482 (GRCm39)	V879A	probably damaging	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,250,058 (GRCm39)	D141V	probably damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Smarca1	T	C	X: 46,938,864 (GRCm39)	R715G	possibly damaging	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tcf21	T	C	10: 22,695,621 (GRCm39)	K61R	probably benign	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Top1	C	T	2: 160,562,945 (GRCm39)	A717V	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	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
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
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'- CCTGGATGAAAATATCGCCAAGCTGAC -3'
(R):5'- CTCCTTCCTTTAGACAGAACAGCAGAC -3'

Sequencing Primer
(F):5'- TATCGCCAAGCTGACCAAGG -3'
(R):5'- GACAGAACAGCAGACACATTAATATG -3'

Posted On

2013-11-08