Mutagenetix > Incidental Mutation

Incidental Mutation 'R9257:Myh11'

701977

Institutional Source

Beutler Lab

Gene Symbol

Myh11

Ensembl Gene

ENSMUSG00000018830

Gene Name

myosin, heavy polypeptide 11, smooth muscle

Synonyms

smMHC, SM1, SM2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9257 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14012392-14109227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 14087120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 119 (G119C)

Ref Sequence

ENSEMBL: ENSMUSP00000087756 (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: G119C

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: G119C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231567
AA Change: G119C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	A	2: 151,315,627 (GRCm39)	D17V	probably benign	Het
9130401M01Rik	A	C	15: 57,892,414 (GRCm39)	H128Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,315 (GRCm39)	Y166C	possibly damaging	Het
Adamtsl4	C	A	3: 95,588,575 (GRCm39)	V546F	probably damaging	Het
Als2cl	T	A	9: 110,723,755 (GRCm39)	V717E	probably damaging	Het
Atm	A	G	9: 53,407,150 (GRCm39)		probably null	Het
Atp2c1	C	A	9: 105,291,851 (GRCm39)	E904*	probably null	Het
Ccdc88c	G	A	12: 100,889,474 (GRCm39)	S1523F	possibly damaging	Het
Cds1	A	T	5: 101,963,751 (GRCm39)	I357F	probably benign	Het
Cilp	T	A	9: 65,174,451 (GRCm39)	V13D	possibly damaging	Het
Copz2	A	G	11: 96,748,386 (GRCm39)	D180G	possibly damaging	Het
Cpsf1	C	T	15: 76,484,992 (GRCm39)	E546K	probably benign	Het
Ctsm	T	C	13: 61,684,413 (GRCm39)	N320D	probably damaging	Het
Fat3	G	A	9: 15,907,863 (GRCm39)	T2713I	probably benign	Het
Fcrl5	T	A	3: 87,343,195 (GRCm39)	S2T	probably benign	Het
Fgfr4	T	C	13: 55,315,974 (GRCm39)	S796P	unknown	Het
Flrt3	A	G	2: 140,502,159 (GRCm39)	F490L	probably benign	Het
Fras1	A	T	5: 96,910,359 (GRCm39)	I3263F	probably damaging	Het
Hydin	A	T	8: 111,301,648 (GRCm39)	D3793V	probably damaging	Het
Kif5c	T	A	2: 49,590,604 (GRCm39)	L269*	probably null	Het
Klhl32	A	G	4: 24,649,608 (GRCm39)	V396A	probably benign	Het
Krt1c	C	T	15: 101,724,926 (GRCm39)	R228Q	probably benign	Het
Lcn9	T	C	2: 25,714,784 (GRCm39)		probably null	Het
Lingo4	A	C	3: 94,310,676 (GRCm39)	D538A	probably benign	Het
Lonp1	G	T	17: 56,927,516 (GRCm39)	Y299*	probably null	Het
Mettl16	T	A	11: 74,708,127 (GRCm39)	V442D	possibly damaging	Het
Mettl25b	G	T	3: 87,831,768 (GRCm39)	Q397K	probably benign	Het
Mis18bp1	A	G	12: 65,180,631 (GRCm39)	V950A	probably benign	Het
Mndal	A	T	1: 173,690,274 (GRCm39)	V352E	probably damaging	Het
Mrpl55	T	C	11: 59,096,578 (GRCm39)	V117A	probably benign	Het
Muc6	T	A	7: 141,226,738 (GRCm39)	S1430C	unknown	Het
Myorg	T	C	4: 41,499,030 (GRCm39)	D200G	probably benign	Het
Neu1	A	G	17: 35,150,396 (GRCm39)	D5G	probably benign	Het
Nrcam	T	A	12: 44,610,837 (GRCm39)	D512E	probably benign	Het
Nup214	T	G	2: 31,923,347 (GRCm39)	V1292G	possibly damaging	Het
Nwd1	T	A	8: 73,397,566 (GRCm39)	L602M	probably damaging	Het
Or6c3b	C	A	10: 129,527,003 (GRCm39)	L302F	probably benign	Het
Pck2	G	T	14: 55,782,702 (GRCm39)	G379W	probably damaging	Het
Per2	C	T	1: 91,376,445 (GRCm39)	V143M	probably damaging	Het
Pfkl	A	T	10: 77,825,489 (GRCm39)	Y634N	probably damaging	Het
Phlpp1	A	G	1: 106,100,281 (GRCm39)	D183G	possibly damaging	Het
Pkdrej	T	A	15: 85,700,098 (GRCm39)	Y1946F	probably damaging	Het
Plxna4	C	T	6: 32,139,018 (GRCm39)	D1717N	probably damaging	Het
Ppp1r14bl	G	T	1: 23,141,275 (GRCm39)	T13N	probably benign	Het
Pramel23	T	A	4: 143,425,685 (GRCm39)	D86V	probably damaging	Het
Prdm16	A	T	4: 154,422,155 (GRCm39)	V879E	probably damaging	Het
Prr23a3	T	C	9: 98,747,298 (GRCm39)	V84A	probably benign	Het
Ptp4a1	A	G	1: 30,985,346 (GRCm39)		probably benign	Het
Rhbdf1	T	C	11: 32,160,754 (GRCm39)	H634R	probably benign	Het
Rmi2	T	C	16: 10,653,089 (GRCm39)	S46P	probably benign	Het
Rsf1	A	T	7: 97,334,918 (GRCm39)	E1350D		Het
Slc6a6	T	A	6: 91,716,952 (GRCm39)	F276Y	possibly damaging	Het
Sppl3	A	G	5: 115,221,532 (GRCm39)	Y120C	probably benign	Het
Stard13	G	T	5: 150,985,956 (GRCm39)	A518E	probably benign	Het
Taf2	A	T	15: 54,929,409 (GRCm39)	V49E	possibly damaging	Het
Tas2r140	T	A	6: 40,468,592 (GRCm39)	W141R	probably damaging	Het
Tlx2	T	A	6: 83,047,035 (GRCm39)	H9L	unknown	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem132d	G	A	5: 127,861,491 (GRCm39)	Q877*	probably null	Het
Unc5d	A	T	8: 29,215,174 (GRCm39)		probably null	Het
Upp1	A	T	11: 9,075,661 (GRCm39)	T4S	probably benign	Het
Uros	A	T	7: 133,292,853 (GRCm39)	I146N	probably damaging	Het
Vsig10	A	T	5: 117,463,131 (GRCm39)	D119V	probably benign	Het
Washc2	C	A	6: 116,193,069 (GRCm39)	Y138*	probably null	Het
Ywhah	T	A	5: 33,184,095 (GRCm39)	D99E	probably benign	Het
Zdbf2	G	A	1: 63,345,400 (GRCm39)	G1260R	probably damaging	Het
Zfp663	T	C	2: 165,195,974 (GRCm39)	T82A	probably benign	Het
Zfp831	T	A	2: 174,488,156 (GRCm39)	C944S	possibly damaging	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
R8527:Myh11	UTSW	16	14,048,570 (GRCm39)	missense	probably damaging	1.00
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
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'- GACTGAGACTGAATCCTGAGG -3'
(R):5'- GCTGGCTAAGTCCTAACCACAG -3'

Sequencing Primer
(F):5'- ACTGAGACTGAATCCTGAGGTGATTC -3'
(R):5'- AAGTCCTAACCACAGGTTGTCTGG -3'

Posted On

2022-03-25