Mutagenetix > Incidental Mutation

Incidental Mutation 'R1560:Myh11'

170577

Institutional Source

Beutler Lab

Gene Symbol

Myh11

Ensembl Gene

ENSMUSG00000018830

Gene Name

myosin, heavy polypeptide 11, smooth muscle

Synonyms

smMHC, SM1, SM2

MMRRC Submission

039599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14012392-14109227 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 14044484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 640 (K640*)

Ref Sequence

ENSEMBL: ENSMUSP00000156021 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000090287
AA Change: K633*

SMART Domains

Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830
AA Change: K633*

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 null
Transcript: ENSMUST00000230397
AA Change: K633*

Predicted Effect

probably null
Transcript: ENSMUST00000231567
AA Change: K640*

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,466 (GRCm39)	T390A	probably benign	Het
Adamts8	T	A	9: 30,867,963 (GRCm39)	C596S	probably damaging	Het
Avl9	T	A	6: 56,702,113 (GRCm39)	Y89*	probably null	Het
Cacna1e	G	A	1: 154,296,850 (GRCm39)	R18*	probably null	Het
Cacng2	A	G	15: 77,897,518 (GRCm39)	F97S	probably benign	Het
Calu	A	G	6: 29,361,657 (GRCm39)	D107G	probably benign	Het
Capns2	G	A	8: 93,628,771 (GRCm39)	R220Q	probably damaging	Het
Catsperb	C	T	12: 101,591,985 (GRCm39)	T1105I	probably benign	Het
Cep350	T	C	1: 155,804,825 (GRCm39)	N753D	possibly damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dnah5	G	T	15: 28,420,149 (GRCm39)	V3816F	probably damaging	Het
Dzip3	T	C	16: 48,771,903 (GRCm39)		probably null	Het
Ep400	A	T	5: 110,818,972 (GRCm39)		probably null	Het
Epb41l2	T	A	10: 25,371,334 (GRCm39)		probably null	Het
Fetub	T	C	16: 22,758,117 (GRCm39)	V300A	probably benign	Het
Gabrb3	A	T	7: 57,466,043 (GRCm39)	M308L	probably damaging	Het
Galnt16	A	T	12: 80,648,566 (GRCm39)	D546V	possibly damaging	Het
Gimap8	G	T	6: 48,633,068 (GRCm39)	G296W	probably damaging	Het
Gpr158	A	G	2: 21,831,125 (GRCm39)	K742E	probably damaging	Het
Hmbs	T	C	9: 44,248,657 (GRCm39)	H72R	possibly damaging	Het
Krt16	A	G	11: 100,137,475 (GRCm39)	I410T	probably damaging	Het
Lamb3	G	A	1: 193,021,710 (GRCm39)	A971T	probably benign	Het
Lilra6	A	C	7: 3,914,407 (GRCm39)		probably null	Het
Mroh7	A	T	4: 106,568,451 (GRCm39)	M418K	possibly damaging	Het
Nsd1	T	A	13: 55,394,533 (GRCm39)	C711*	probably null	Het
Or1j17	T	A	2: 36,578,155 (GRCm39)	L47Q	probably damaging	Het
Or2ak5	A	T	11: 58,611,513 (GRCm39)	Y120*	probably null	Het
Or3a10	A	G	11: 73,935,441 (GRCm39)	S220P	probably damaging	Het
Or4c111	T	C	2: 88,843,550 (GRCm39)	Y286C	probably damaging	Het
Otop3	A	T	11: 115,235,289 (GRCm39)	H307L	possibly damaging	Het
Plekhm3	T	C	1: 64,976,976 (GRCm39)	T165A	probably benign	Het
Poldip3	G	A	15: 83,022,527 (GRCm39)	R86W	probably damaging	Het
Rif1	A	T	2: 52,001,143 (GRCm39)	R1532S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc27a6	T	A	18: 58,712,904 (GRCm39)	L242*	probably null	Het
Spata45	T	C	1: 190,772,017 (GRCm39)	S80P	probably benign	Het
Taf4	A	G	2: 179,577,746 (GRCm39)	V525A	probably benign	Het
Tbck	A	G	3: 132,543,809 (GRCm39)	T887A	probably damaging	Het
Tnrc6c	C	T	11: 117,650,463 (GRCm39)	T1571I	probably damaging	Het
Trim38	A	G	13: 23,966,685 (GRCm39)	Y44C	probably benign	Het
Tsg101	A	T	7: 46,542,208 (GRCm39)		probably null	Het
Tsku	T	A	7: 98,002,151 (GRCm39)	D60V	probably damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Upf1	G	A	8: 70,791,092 (GRCm39)	P550L	probably damaging	Het
Vipr2	A	G	12: 116,058,401 (GRCm39)	D106G	probably benign	Het
Vps13c	T	C	9: 67,843,745 (GRCm39)		probably null	Het
Washc4	T	C	10: 83,391,973 (GRCm39)	Y220H	probably damaging	Het
Wdr81	C	T	11: 75,342,449 (GRCm39)	W939*	probably null	Het
Zfp512b	T	C	2: 181,230,472 (GRCm39)	T473A	probably benign	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
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
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'- TGTGGAAGAGGCCCAAATCCAGAC -3'
(R):5'- TCATCTCCCAGAGTATCACCTGCAC -3'

Sequencing Primer
(F):5'- CAGTACTATCCCGTATGCAGGAG -3'
(R):5'- GCACAAAAAAACCTCCTTTGATCAC -3'

Posted On

2014-04-13