Mutagenetix > Incidental Mutation

Incidental Mutation 'R4805:Myh11'

370649

Institutional Source

Beutler Lab

Gene Symbol

Myh11

Ensembl Gene

ENSMUSG00000018830

Gene Name

myosin, heavy polypeptide 11, smooth muscle

Synonyms

smMHC, SM1, SM2

MMRRC Submission

041999-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4805 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14012392-14109227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14052329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 379 (Q379L)

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: Q379L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830
AA Change: Q379L

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: Q379L

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000231567
AA Change: Q386L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Meta Mutation Damage Score

0.4187

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (69/70)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,950,628 (GRCm39)	Y1508*	probably null	Het
4931414P19Rik	T	C	14: 54,832,911 (GRCm39)	E88G	probably benign	Het
Acaa1b	A	G	9: 118,986,014 (GRCm39)	S17P	probably benign	Het
Arhgef7	G	A	8: 11,881,552 (GRCm39)	E565K	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Bpnt1	T	A	1: 185,077,504 (GRCm39)		probably null	Het
Ccnt1	C	T	15: 98,442,189 (GRCm39)	V360I	probably benign	Het
Chd4	T	C	6: 125,105,908 (GRCm39)	S1829P	possibly damaging	Het
Dennd1b	A	T	1: 138,981,122 (GRCm39)	N112I	probably damaging	Het
Fat2	A	T	11: 55,174,805 (GRCm39)	D1969E	probably benign	Het
Flywch1	A	C	17: 23,979,591 (GRCm39)	D394E	probably benign	Het
Gal3st4	T	A	5: 138,263,733 (GRCm39)		probably null	Het
Gm14403	T	C	2: 177,200,492 (GRCm39)	L146P	probably damaging	Het
Gm5283	G	T	3: 17,285,123 (GRCm39)		noncoding transcript	Het
Gpr161	T	A	1: 165,134,029 (GRCm39)	L97Q	probably damaging	Het
Gstm2	A	T	3: 107,892,411 (GRCm39)	M105K	possibly damaging	Het
Hecw2	A	G	1: 53,880,018 (GRCm39)	Y1264H	probably damaging	Het
Ifi206	T	A	1: 173,308,952 (GRCm39)	Q348L	possibly damaging	Het
Ighv1-83	A	T	12: 115,927,489 (GRCm39)	M87K	possibly damaging	Het
Ighv2-7	A	T	12: 113,771,154 (GRCm39)	S44T	probably damaging	Het
Ipo7	T	A	7: 109,650,691 (GRCm39)	N884K	probably benign	Het
Itga2b	T	C	11: 102,358,692 (GRCm39)	N75S	probably benign	Het
Krt20	A	G	11: 99,319,811 (GRCm39)	V431A	unknown	Het
Krt24	A	T	11: 99,174,452 (GRCm39)	I205N	possibly damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc31	A	T	3: 30,745,446 (GRCm39)	L67*	probably null	Het
Lrrc37a	A	G	11: 103,395,135 (GRCm39)	F97L	probably benign	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mgat4d	T	G	8: 84,084,787 (GRCm39)		probably null	Het
Mrgprb3	C	T	7: 48,293,054 (GRCm39)	V166I	probably benign	Het
Myh7	T	C	14: 55,222,590 (GRCm39)	S782G	probably benign	Het
Nobox	T	C	6: 43,282,053 (GRCm39)	D340G	probably damaging	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Or2t29	G	A	11: 58,433,396 (GRCm39)	T315I	probably benign	Het
Or5b101	T	A	19: 13,005,661 (GRCm39)	I11F	probably benign	Het
Pikfyve	T	A	1: 65,307,959 (GRCm39)	I1845N	probably damaging	Het
Pramel15	A	G	4: 144,103,590 (GRCm39)	Y179H	probably benign	Het
Rad21l	T	G	2: 151,509,927 (GRCm39)	H58P	probably damaging	Het
Scnn1g	T	C	7: 121,345,825 (GRCm39)	L316S	probably damaging	Het
Serpina5	G	A	12: 104,068,460 (GRCm39)	V174I	probably damaging	Het
Shank1	T	C	7: 43,993,135 (GRCm39)	S788P	unknown	Het
Shisal1	T	A	15: 84,301,397 (GRCm39)	H82L	probably damaging	Het
Snap47	A	G	11: 59,319,343 (GRCm39)	V265A	possibly damaging	Het
Steap3	T	A	1: 120,171,616 (GRCm39)	H163L	probably benign	Het
Sycp2	T	C	2: 178,035,754 (GRCm39)		probably benign	Het
Tet2	A	G	3: 133,173,076 (GRCm39)	F1729L	probably benign	Het
Thsd7b	T	C	1: 130,116,276 (GRCm39)	V1343A	probably benign	Het
Thumpd2	G	A	17: 81,334,130 (GRCm39)	T486I	probably damaging	Het
Ttc41	G	T	10: 86,565,662 (GRCm39)	M405I	possibly damaging	Het
Ttn	T	C	2: 76,577,873 (GRCm39)	D24340G	probably damaging	Het
Vmn1r10	T	G	6: 57,090,602 (GRCm39)	F65V	possibly damaging	Het
Vmn2r118	G	T	17: 55,899,581 (GRCm39)	D774E	probably damaging	Het
Vmn2r13	C	T	5: 109,304,331 (GRCm39)	C700Y	probably damaging	Het
Wsb1	A	C	11: 79,131,217 (GRCm39)	M393R	possibly damaging	Het
Zmat3	A	G	3: 32,397,504 (GRCm39)	Y214H	probably benign	Het
Zswim3	C	T	2: 164,662,099 (GRCm39)	T193I	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
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'- GATGAGCAAGTAGATACCATGTATATG -3'
(R):5'- AACGAGCCACATGTTTATGACC -3'

Sequencing Primer
(F):5'- GGGTTGAATGATAAATGTGTAAAAGG -3'
(R):5'- GCAGAGATGACCTTGCACTTATG -3'

Posted On

2016-02-04