Mutagenetix > Incidental Mutation

Incidental Mutation 'R6024:Myh11'

479109

Institutional Source

Beutler Lab

Gene Symbol

Myh11

Ensembl Gene

ENSMUSG00000018830

Gene Name

myosin, heavy polypeptide 11, smooth muscle

Synonyms

smMHC, SM1, SM2

MMRRC Submission

044196-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14012392-14109227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14095567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 65 (N65I)

Ref Sequence

ENSEMBL: ENSMUSP00000087756 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090287
AA Change: N65I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830
AA Change: N65I

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

possibly damaging
Transcript: ENSMUST00000230397
AA Change: N65I

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230643

Predicted Effect

probably damaging
Transcript: ENSMUST00000231567
AA Change: N65I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.0943

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,624,624 (GRCm39)	F3782L	probably benign	Het
Akr1d1	T	C	6: 37,535,417 (GRCm39)	I267T	probably benign	Het
Aoc1l1	A	T	6: 48,953,030 (GRCm39)	K318N	possibly damaging	Het
Arhgef5	T	C	6: 43,252,068 (GRCm39)	S940P	probably benign	Het
Art2b	A	G	7: 101,229,587 (GRCm39)	I104T	probably benign	Het
Avpr1a	A	G	10: 122,285,053 (GRCm39)	Y115C	probably damaging	Het
Cdc42bpg	T	A	19: 6,367,526 (GRCm39)	L995Q	probably damaging	Het
Cenatac	T	C	9: 44,329,249 (GRCm39)	T13A	possibly damaging	Het
Clip1	T	C	5: 123,753,152 (GRCm39)	K210E	possibly damaging	Het
Cog4	C	T	8: 111,608,112 (GRCm39)	T735I	probably damaging	Het
Creb3l4	G	A	3: 90,146,006 (GRCm39)	S206L	probably damaging	Het
Csf3r	C	A	4: 125,931,310 (GRCm39)		probably null	Het
Dnah11	G	T	12: 117,994,007 (GRCm39)	S2346R	probably benign	Het
Dnai2	A	T	11: 114,643,734 (GRCm39)	I467F	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,876 (GRCm39)	M523K	probably damaging	Het
Ebf3	T	C	7: 136,802,264 (GRCm39)	D407G	probably damaging	Het
Fbn2	A	G	18: 58,209,908 (GRCm39)	I991T	probably benign	Het
Gcc1	T	C	6: 28,419,299 (GRCm39)	T345A	probably benign	Het
Gm1527	C	T	3: 28,974,752 (GRCm39)	H522Y	probably benign	Het
Gm4846	T	A	1: 166,317,696 (GRCm39)	Y240F	probably benign	Het
Hmgcl	T	C	4: 135,682,926 (GRCm39)	V126A	probably benign	Het
Ifit1bl2	G	T	19: 34,597,438 (GRCm39)	S59R	probably benign	Het
Itga6	A	G	2: 71,617,577 (GRCm39)	N32S	probably benign	Het
Lcor	C	A	19: 41,572,396 (GRCm39)	P384T	possibly damaging	Het
Macc1	T	C	12: 119,414,160 (GRCm39)	S779P	probably benign	Het
Mctp1	G	T	13: 76,533,280 (GRCm39)	L209F	probably damaging	Het
Mink1	A	G	11: 70,489,915 (GRCm39)	N97S	possibly damaging	Het
Mst1r	T	A	9: 107,785,350 (GRCm39)	V336E	probably benign	Het
Muc16	A	T	9: 18,557,967 (GRCm39)	S2775R	unknown	Het
Muc6	T	A	7: 141,227,841 (GRCm39)	T1316S	possibly damaging	Het
Myo9a	A	G	9: 59,762,671 (GRCm39)	N801D	possibly damaging	Het
Nkain2	A	T	10: 31,827,281 (GRCm39)	M103K	probably damaging	Het
Nkx2-2	T	A	2: 147,025,961 (GRCm39)	Y259F	probably benign	Het
Nrxn1	T	C	17: 90,897,526 (GRCm39)	M877V	possibly damaging	Het
Nxf1	C	T	19: 8,745,108 (GRCm39)	L453F	probably damaging	Het
Pcnt	T	C	10: 76,255,871 (GRCm39)	S790G	possibly damaging	Het
Phf3	T	C	1: 30,902,307 (GRCm39)	D2G	probably damaging	Het
Phrf1	T	C	7: 140,838,898 (GRCm39)		probably benign	Het
Ptpn3	C	A	4: 57,248,653 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,243,841 (GRCm39)	T625A	probably benign	Het
R3hdm2	T	A	10: 127,295,349 (GRCm39)	F239I	probably damaging	Het
Sesn1	A	T	10: 41,772,196 (GRCm39)	I242F	probably damaging	Het
Shank2	C	T	7: 143,733,768 (GRCm39)	T105I	probably benign	Het
Skint3	T	C	4: 112,147,543 (GRCm39)	F350S	possibly damaging	Het
Slco5a1	T	C	1: 13,014,294 (GRCm39)	Y320C	probably damaging	Het
Syt11	A	G	3: 88,669,416 (GRCm39)	S159P	probably benign	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,814,498 (GRCm39)	S1981P	probably damaging	Het
Tmem200c	A	C	17: 69,148,722 (GRCm39)	D435A	possibly damaging	Het
Trappc8	A	G	18: 20,966,066 (GRCm39)	V1125A	probably damaging	Het
Ttn	A	G	2: 76,644,487 (GRCm39)	V4762A	possibly damaging	Het
Unc5d	A	G	8: 29,365,539 (GRCm39)	S149P	possibly damaging	Het
Usf3	A	T	16: 44,040,203 (GRCm39)	N1561I	probably damaging	Het
Wdr4	A	T	17: 31,720,272 (GRCm39)		probably benign	Het
Wdr49	T	G	3: 75,209,133 (GRCm39)	E612D	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
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
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'- GACTGAAAGAAGTCCGTCACC -3'
(R):5'- ATCTCTTCACTCCACAGGGG -3'

Sequencing Primer
(F):5'- TGAAAGAAGTCCGTCACCCCAAG -3'
(R):5'- GGGACCACCAGACATCATGG -3'

Posted On

2017-06-26