Mutagenetix > Incidental Mutation

Incidental Mutation 'R3693:Myh11'

268873

Institutional Source

Beutler Lab

Gene Symbol

Myh11

Ensembl Gene

ENSMUSG00000018830

Gene Name

myosin, heavy polypeptide 11, smooth muscle

Synonyms

smMHC, SM1, SM2

MMRRC Submission

040688-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14012392-14109227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 14035813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1038 (E1038D)

Ref Sequence

ENSEMBL: ENSMUSP00000155052 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000090287
AA Change: E1038D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830
AA Change: E1038D

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 benign
Transcript: ENSMUST00000230397
AA Change: E1038D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000231567
AA Change: E1045D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (37/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010106E10Rik	A	T	X: 111,466,012 (GRCm39)	L187F	probably damaging	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Cabp2	A	G	19: 4,133,593 (GRCm39)	T12A	probably benign	Het
Ccdc158	T	C	5: 92,757,904 (GRCm39)	E1056G	probably damaging	Het
Cdhr2	A	G	13: 54,874,229 (GRCm39)	Y767C	probably damaging	Het
Ces2e	A	G	8: 105,655,443 (GRCm39)	D122G	probably damaging	Het
Cherp	TTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTG	8: 73,221,755 (GRCm39)		probably benign	Het
Chsy3	A	T	18: 59,309,080 (GRCm39)	Q111L	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cyp11b2	C	T	15: 74,727,857 (GRCm39)	R75Q	probably benign	Het
Dnaja2	T	C	8: 86,273,249 (GRCm39)	K223E	probably damaging	Het
Dtx3	T	C	10: 127,027,293 (GRCm39)	I294V	probably benign	Het
Eps15l1	A	G	8: 73,152,904 (GRCm39)		probably benign	Het
Exd2	A	G	12: 80,527,467 (GRCm39)	Y220C	probably damaging	Het
Eya1	A	G	1: 14,299,725 (GRCm39)	Y343H	probably damaging	Het
Hif3a	T	C	7: 16,774,999 (GRCm39)	E533G	probably damaging	Het
Kalrn	T	A	16: 34,177,685 (GRCm39)	Y178F	probably damaging	Het
Mageb4	G	T	X: 85,296,000 (GRCm39)	R10S	probably damaging	Het
Muc6	A	G	7: 141,234,946 (GRCm39)		probably benign	Het
Nfxl1	T	C	5: 72,697,954 (GRCm39)	Y297C	probably damaging	Het
Nop14	T	C	5: 34,811,782 (GRCm39)	K202E	probably damaging	Het
Or5b112	T	C	19: 13,319,893 (GRCm39)	I257T	possibly damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Pcdha1	A	T	18: 37,065,361 (GRCm39)	K675I	possibly damaging	Het
Pigw	A	G	11: 84,769,209 (GRCm39)	I40T	probably benign	Het
Pip5k1a	A	T	3: 94,985,498 (GRCm39)		probably benign	Het
Ptprh	G	T	7: 4,557,234 (GRCm39)	Q687K	probably damaging	Het
Rbm4	A	G	19: 4,837,411 (GRCm39)	Y358H	probably damaging	Het
Rft1	T	A	14: 30,412,408 (GRCm39)	C490S	probably damaging	Het
Rims2	A	T	15: 39,341,971 (GRCm39)	T887S	probably benign	Het
Ripk2	A	T	4: 16,127,695 (GRCm39)	L349Q	probably benign	Het
Strn	T	C	17: 78,964,421 (GRCm39)	N515D	probably damaging	Het
Stxbp5l	A	T	16: 37,061,708 (GRCm39)	Y367*	probably null	Het
Tas2r143	G	A	6: 42,377,910 (GRCm39)	V247I	probably benign	Het
Togaram1	A	T	12: 65,030,283 (GRCm39)	Y1029F	probably benign	Het
Ugt1a6b	A	G	1: 88,035,516 (GRCm39)	T285A	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
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
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'- CCATATATGGTAATACATTCACACAGC -3'
(R):5'- GACACACTGTCATGAGGTGAG -3'

Sequencing Primer
(F):5'- TGAGAGGAAATGTATTTGTCT -3'
(R):5'- AACTCCTTGAAGAGAGGG -3'

Posted On

2015-02-19