Mutagenetix > Incidental Mutation

Incidental Mutation 'R8527:Myh11'

658867

Institutional Source

Beutler Lab

Gene Symbol

Myh11

Ensembl Gene

ENSMUSG00000018830

Gene Name

myosin, heavy polypeptide 11, smooth muscle

Synonyms

smMHC, SM1, SM2

MMRRC Submission

067952-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14012392-14109227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14048570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 586 (H586R)

Ref Sequence

ENSEMBL: ENSMUSP00000156021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090287] [ENSMUST00000230397] [ENSMUST00000231567]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830
AA Change: H579R

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	33	73	1e-15	PFAM
MYSc	79	784	N/A	SMART
IQ	785	807	1.09e-2	SMART
Pfam:Myosin_tail_1	848	1928	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000230397
AA Change: H579R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231567
AA Change: H586R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have impaired smooth muscle contractility. They are incapable of urinating, exhibit dilative cardiomyopathy, are growth retarded, and die within 3 days of birth. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(4)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,349,047 (GRCm39)		probably null	Het
Acsl5	A	G	19: 55,280,259 (GRCm39)	T511A	probably damaging	Het
Ankrd35	A	G	3: 96,589,353 (GRCm39)	I191V	probably damaging	Het
Apmap	T	C	2: 150,428,385 (GRCm39)	Q254R	probably benign	Het
Arhgef12	A	T	9: 42,908,944 (GRCm39)	L661Q	possibly damaging	Het
Atf7ip2	T	A	16: 10,055,129 (GRCm39)		probably benign	Het
Braf	T	C	6: 39,604,693 (GRCm39)	H592R	probably benign	Het
Ceacam2	T	A	7: 25,238,155 (GRCm39)	I90L	probably benign	Het
Dgcr6	T	C	16: 17,887,390 (GRCm39)		probably null	Het
Efcab12	T	C	6: 115,791,535 (GRCm39)	I546V	probably benign	Het
Eya1	G	T	1: 14,322,672 (GRCm39)	A268E	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Gas6	T	C	8: 13,515,790 (GRCm39)	I661V	probably damaging	Het
Gipc3	T	A	10: 81,174,055 (GRCm39)	M240L	possibly damaging	Het
Gm12689	A	G	4: 99,184,450 (GRCm39)	D101G	unknown	Het
Kctd2	G	T	11: 115,320,310 (GRCm39)		probably benign	Het
Kdm5b	A	T	1: 134,533,512 (GRCm39)	M534L	possibly damaging	Het
Kif14	T	A	1: 136,396,495 (GRCm39)	V267D	possibly damaging	Het
Lca5l	C	A	16: 95,960,438 (GRCm39)	G675C	probably damaging	Het
Lmod1	T	C	1: 135,292,221 (GRCm39)	F359L	possibly damaging	Het
Lonrf1	G	T	8: 36,686,986 (GRCm39)	N783K	possibly damaging	Het
Megf10	T	C	18: 57,425,790 (GRCm39)	S1059P	probably benign	Het
Mmp24	A	G	2: 155,641,634 (GRCm39)	E154G	probably benign	Het
Mtus2	A	C	5: 148,240,408 (GRCm39)	K85T	probably damaging	Het
Noc2l	A	G	4: 156,326,187 (GRCm39)	T425A	probably benign	Het
Olfm3	A	T	3: 114,916,196 (GRCm39)	Q376L	probably benign	Het
Pax5	A	T	4: 44,570,071 (GRCm39)	Y272N	probably damaging	Het
Rasgrp1	A	T	2: 117,168,785 (GRCm39)	D64E	probably benign	Het
Rb1cc1	T	A	1: 6,315,099 (GRCm39)	N417K	probably damaging	Het
Rpl3l	A	G	17: 24,954,754 (GRCm39)	D369G	probably damaging	Het
Scn3a	G	T	2: 65,327,863 (GRCm39)	H876N	probably damaging	Het
Slc29a3	A	G	10: 60,566,401 (GRCm39)	S111P	probably damaging	Het
Smarca2	G	C	19: 26,654,187 (GRCm39)	V791L	probably damaging	Het
Smc4	T	A	3: 68,940,224 (GRCm39)		probably null	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tanc2	A	G	11: 105,807,834 (GRCm39)	E1288G	probably damaging	Het
Tex52	G	A	6: 128,356,828 (GRCm39)	V174I	probably benign	Het
Tjp2	C	A	19: 24,088,937 (GRCm39)	G660W	probably damaging	Het
Tmem121b	T	C	6: 120,469,055 (GRCm39)	E554G	probably damaging	Het
Tmem209	C	A	6: 30,497,237 (GRCm39)	V318F	probably damaging	Het
Tnxb	A	G	17: 34,907,634 (GRCm39)	E1226G	probably damaging	Het
Traf3ip3	T	A	1: 192,876,851 (GRCm39)	I196F	probably damaging	Het
Trpc4ap	G	C	2: 155,534,132 (GRCm39)	P32R	unknown	Het
Vav3	A	G	3: 109,410,787 (GRCm39)	K206R	probably damaging	Het
Zan	T	C	5: 137,433,971 (GRCm39)	E2254G	unknown	Het

Other mutations in Myh11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Myh11	APN	16	14,095,586 (GRCm39)	missense	probably benign	0.00
IGL01398:Myh11	APN	16	14,019,964 (GRCm39)	missense	probably damaging	0.99
IGL01646:Myh11	APN	16	14,039,639 (GRCm39)	missense	probably damaging	1.00
IGL02470:Myh11	APN	16	14,035,910 (GRCm39)	missense	probably damaging	1.00
IGL02680:Myh11	APN	16	14,027,384 (GRCm39)	missense	probably benign	0.02
IGL02687:Myh11	APN	16	14,030,482 (GRCm39)	nonsense	probably null
IGL02987:Myh11	APN	16	14,050,396 (GRCm39)	missense	probably damaging	1.00
IGL03008:Myh11	APN	16	14,022,617 (GRCm39)	missense	probably benign	0.00
G5030:Myh11	UTSW	16	14,068,443 (GRCm39)	missense	probably damaging	1.00
PIT4618001:Myh11	UTSW	16	14,018,930 (GRCm39)	missense
R0008:Myh11	UTSW	16	14,041,883 (GRCm39)	missense	probably damaging	1.00
R0085:Myh11	UTSW	16	14,041,883 (GRCm39)	missense	probably damaging	1.00
R0086:Myh11	UTSW	16	14,041,883 (GRCm39)	missense	probably damaging	1.00
R0087:Myh11	UTSW	16	14,041,883 (GRCm39)	missense	probably damaging	1.00
R0096:Myh11	UTSW	16	14,022,231 (GRCm39)	missense	possibly damaging	0.94
R0096:Myh11	UTSW	16	14,022,231 (GRCm39)	missense	possibly damaging	0.94
R0207:Myh11	UTSW	16	14,029,124 (GRCm39)	missense	possibly damaging	0.95
R0326:Myh11	UTSW	16	14,036,744 (GRCm39)	missense	probably benign	0.32
R0546:Myh11	UTSW	16	14,023,492 (GRCm39)	missense	probably damaging	1.00
R0658:Myh11	UTSW	16	14,041,883 (GRCm39)	missense	probably damaging	1.00
R0715:Myh11	UTSW	16	14,044,480 (GRCm39)	missense	possibly damaging	0.89
R0839:Myh11	UTSW	16	14,021,042 (GRCm39)	missense	probably damaging	1.00
R1014:Myh11	UTSW	16	14,054,274 (GRCm39)	missense	possibly damaging	0.70
R1104:Myh11	UTSW	16	14,019,991 (GRCm39)	missense	possibly damaging	0.53
R1426:Myh11	UTSW	16	14,023,795 (GRCm39)	nonsense	probably null
R1560:Myh11	UTSW	16	14,044,484 (GRCm39)	nonsense	probably null
R1714:Myh11	UTSW	16	14,054,232 (GRCm39)	critical splice donor site	probably null
R1742:Myh11	UTSW	16	14,037,908 (GRCm39)	missense	probably damaging	1.00
R1750:Myh11	UTSW	16	14,033,654 (GRCm39)	missense	probably damaging	0.98
R1750:Myh11	UTSW	16	14,018,622 (GRCm39)	missense	probably damaging	1.00
R1753:Myh11	UTSW	16	14,095,734 (GRCm39)	missense	probably benign
R1760:Myh11	UTSW	16	14,051,559 (GRCm39)	splice site	probably benign
R1829:Myh11	UTSW	16	14,041,744 (GRCm39)	missense	probably damaging	1.00
R1876:Myh11	UTSW	16	14,086,967 (GRCm39)	splice site	probably benign
R2027:Myh11	UTSW	16	14,050,532 (GRCm39)	missense	probably damaging	1.00
R2122:Myh11	UTSW	16	14,035,868 (GRCm39)	missense	probably damaging	1.00
R2247:Myh11	UTSW	16	14,095,423 (GRCm39)	missense	probably damaging	1.00
R2495:Myh11	UTSW	16	14,023,421 (GRCm39)	missense	probably damaging	1.00
R2863:Myh11	UTSW	16	14,057,290 (GRCm39)	missense	probably benign	0.02
R3684:Myh11	UTSW	16	14,021,098 (GRCm39)	missense	probably benign	0.00
R3693:Myh11	UTSW	16	14,035,813 (GRCm39)	missense	probably benign	0.01
R4080:Myh11	UTSW	16	14,041,923 (GRCm39)	missense	possibly damaging	0.83
R4367:Myh11	UTSW	16	14,036,747 (GRCm39)	missense	probably damaging	0.97
R4664:Myh11	UTSW	16	14,044,448 (GRCm39)	missense	possibly damaging	0.70
R4673:Myh11	UTSW	16	14,087,105 (GRCm39)	missense	probably damaging	0.99
R4694:Myh11	UTSW	16	14,018,566 (GRCm39)	missense	probably damaging	1.00
R4805:Myh11	UTSW	16	14,052,329 (GRCm39)	missense	possibly damaging	0.61
R4806:Myh11	UTSW	16	14,018,947 (GRCm39)	splice site	probably null
R4905:Myh11	UTSW	16	14,068,387 (GRCm39)	missense	probably benign	0.13
R4939:Myh11	UTSW	16	14,057,371 (GRCm39)	missense	probably benign
R4964:Myh11	UTSW	16	14,023,818 (GRCm39)	missense	probably damaging	1.00
R4966:Myh11	UTSW	16	14,023,818 (GRCm39)	missense	probably damaging	1.00
R5029:Myh11	UTSW	16	14,023,489 (GRCm39)	missense	probably damaging	1.00
R5045:Myh11	UTSW	16	14,057,391 (GRCm39)	nonsense	probably null
R5097:Myh11	UTSW	16	14,023,770 (GRCm39)	splice site	probably null
R5288:Myh11	UTSW	16	14,025,872 (GRCm39)	missense	possibly damaging	0.66
R5385:Myh11	UTSW	16	14,025,872 (GRCm39)	missense	possibly damaging	0.66
R5621:Myh11	UTSW	16	14,062,719 (GRCm39)	missense	probably damaging	0.96
R5856:Myh11	UTSW	16	14,023,840 (GRCm39)	missense	probably benign	0.00
R5869:Myh11	UTSW	16	14,048,664 (GRCm39)	missense	probably damaging	1.00
R6019:Myh11	UTSW	16	14,023,938 (GRCm39)	missense	probably damaging	1.00
R6024:Myh11	UTSW	16	14,095,567 (GRCm39)	missense	probably damaging	0.99
R6139:Myh11	UTSW	16	14,033,738 (GRCm39)	missense	probably damaging	1.00
R6209:Myh11	UTSW	16	14,026,155 (GRCm39)	nonsense	probably null
R6373:Myh11	UTSW	16	14,022,994 (GRCm39)	missense	possibly damaging	0.72
R6671:Myh11	UTSW	16	14,044,480 (GRCm39)	missense	possibly damaging	0.89
R6688:Myh11	UTSW	16	14,023,417 (GRCm39)	missense	probably damaging	1.00
R6709:Myh11	UTSW	16	14,041,358 (GRCm39)	critical splice donor site	probably null
R7069:Myh11	UTSW	16	14,036,803 (GRCm39)	missense	possibly damaging	0.95
R7176:Myh11	UTSW	16	14,033,690 (GRCm39)	missense
R7644:Myh11	UTSW	16	14,039,688 (GRCm39)	missense
R7838:Myh11	UTSW	16	14,027,481 (GRCm39)	missense
R7905:Myh11	UTSW	16	14,025,545 (GRCm39)	nonsense	probably null
R8261:Myh11	UTSW	16	14,041,867 (GRCm39)	missense
R8272:Myh11	UTSW	16	14,036,718 (GRCm39)	missense
R8317:Myh11	UTSW	16	14,025,941 (GRCm39)	missense
R8359:Myh11	UTSW	16	14,026,095 (GRCm39)	critical splice donor site	probably null
R8486:Myh11	UTSW	16	14,022,532 (GRCm39)	missense	possibly damaging	0.77
R8861:Myh11	UTSW	16	14,064,646 (GRCm39)	missense
R8886:Myh11	UTSW	16	14,052,278 (GRCm39)	missense
R8946:Myh11	UTSW	16	14,048,580 (GRCm39)	missense	probably benign	0.08
R9151:Myh11	UTSW	16	14,050,439 (GRCm39)	missense
R9253:Myh11	UTSW	16	14,074,359 (GRCm39)	missense
R9257:Myh11	UTSW	16	14,087,120 (GRCm39)	missense
R9273:Myh11	UTSW	16	14,054,283 (GRCm39)	missense
R9320:Myh11	UTSW	16	14,029,152 (GRCm39)	missense
R9364:Myh11	UTSW	16	14,018,580 (GRCm39)	missense
R9365:Myh11	UTSW	16	14,052,297 (GRCm39)	missense
R9496:Myh11	UTSW	16	14,048,616 (GRCm39)	nonsense	probably null
R9499:Myh11	UTSW	16	14,064,673 (GRCm39)	missense
R9551:Myh11	UTSW	16	14,064,673 (GRCm39)	missense
R9554:Myh11	UTSW	16	14,018,580 (GRCm39)	missense
R9631:Myh11	UTSW	16	14,025,441 (GRCm39)	missense
R9661:Myh11	UTSW	16	14,041,857 (GRCm39)	missense
R9679:Myh11	UTSW	16	14,095,436 (GRCm39)	missense
R9780:Myh11	UTSW	16	14,064,613 (GRCm39)	missense
R9790:Myh11	UTSW	16	14,025,992 (GRCm39)	missense
R9791:Myh11	UTSW	16	14,025,992 (GRCm39)	missense
X0018:Myh11	UTSW	16	14,095,497 (GRCm39)	missense	probably damaging	1.00
X0025:Myh11	UTSW	16	14,027,553 (GRCm39)	missense	possibly damaging	0.93
X0027:Myh11	UTSW	16	14,052,266 (GRCm39)	missense	probably damaging	1.00
Z1088:Myh11	UTSW	16	14,087,126 (GRCm39)	frame shift	probably null
Z1176:Myh11	UTSW	16	14,095,639 (GRCm39)	missense
Z1176:Myh11	UTSW	16	14,057,260 (GRCm39)	missense	probably null
Z1177:Myh11	UTSW	16	14,027,459 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CAGGGAAGAACTGTCTGGTC -3'
(R):5'- GGTGACCCTGCCTTCTTATG -3'

Sequencing Primer
(F):5'- TGGTCAGCACAGTTGACATC -3'
(R):5'- GCCTTCTTATGTCCCCAGAACAAC -3'

Posted On

2021-01-18