Incidental Mutation 'R1714:Myh11'
ID 190898
Institutional Source Beutler Lab
Gene Symbol Myh11
Ensembl Gene ENSMUSG00000018830
Gene Name myosin, heavy polypeptide 11, smooth muscle
Synonyms smMHC, SM1, SM2
MMRRC Submission 039747-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1714 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 14012392-14109227 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 14054232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830

DomainStartEndE-ValueType
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
Predicted Effect probably null
Transcript: ENSMUST00000231567
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,464,479 (GRCm39) T892I possibly damaging Het
Abcb11 A C 2: 69,136,925 (GRCm39) F179V probably damaging Het
Adgrg6 G T 10: 14,315,514 (GRCm39) Q597K possibly damaging Het
Ankmy1 G T 1: 92,812,916 (GRCm39) Y464* probably null Het
Apba1 G A 19: 23,922,316 (GRCm39) E795K possibly damaging Het
Aqp12 T A 1: 92,934,681 (GRCm39) V186D possibly damaging Het
Brd8 A T 18: 34,742,886 (GRCm39) S253R probably damaging Het
Cdc42se2 A T 11: 54,631,112 (GRCm39) S2R possibly damaging Het
Chd9 A C 8: 91,760,853 (GRCm39) probably benign Het
Clk4 C T 11: 51,171,245 (GRCm39) H219Y probably damaging Het
Cngb1 A G 8: 95,984,559 (GRCm39) Y417H probably damaging Het
Cr2 A T 1: 194,833,994 (GRCm39) F932I possibly damaging Het
Cxxc1 C A 18: 74,352,934 (GRCm39) R415S probably damaging Het
Dclk2 G A 3: 86,813,400 (GRCm39) A182V probably benign Het
Ddx11 T G 17: 66,455,754 (GRCm39) W718G probably damaging Het
Dmd A C X: 83,008,356 (GRCm39) T2069P probably benign Het
Dnai1 T C 4: 41,632,164 (GRCm39) F533L probably benign Het
Dnajc5b A T 3: 19,633,265 (GRCm39) R163* probably null Het
Dynll2 T A 11: 87,874,838 (GRCm39) probably null Het
Ercc5 A G 1: 44,206,499 (GRCm39) T471A probably benign Het
Fan1 T C 7: 64,016,435 (GRCm39) D563G probably benign Het
Fbxo34 A G 14: 47,766,658 (GRCm39) Y6C probably damaging Het
Fcrl5 T A 3: 87,353,713 (GRCm39) S353T probably damaging Het
Gabrb3 A T 7: 57,415,176 (GRCm39) Y82F probably damaging Het
Gm20939 C A 17: 95,183,234 (GRCm39) P157T probably damaging Het
H2bc1 T C 13: 24,117,935 (GRCm39) T69A probably benign Het
Haus3 A T 5: 34,321,041 (GRCm39) H468Q probably benign Het
Il20ra T C 10: 19,631,576 (GRCm39) V259A probably damaging Het
Isg15 A T 4: 156,284,414 (GRCm39) V38E probably damaging Het
Kcnq3 A G 15: 65,871,912 (GRCm39) S586P probably benign Het
Kl A T 5: 150,876,798 (GRCm39) Y206F probably benign Het
Klk1b24 C A 7: 43,840,939 (GRCm39) D122E probably damaging Het
Kmt2d A C 15: 98,760,831 (GRCm39) S840A unknown Het
Krt34 A G 11: 99,930,953 (GRCm39) S150P possibly damaging Het
Lamc3 A G 2: 31,830,769 (GRCm39) K1502R probably benign Het
Letm1 G T 5: 33,918,228 (GRCm39) R306S possibly damaging Het
Lnx1 C T 5: 74,768,398 (GRCm39) G397S probably null Het
Lrrc8c A G 5: 105,755,157 (GRCm39) T311A possibly damaging Het
Mpeg1 A T 19: 12,440,198 (GRCm39) D552V probably damaging Het
Ndufa9 T C 6: 126,799,154 (GRCm39) probably null Het
Or4e5 A C 14: 52,727,871 (GRCm39) probably null Het
Or4f4b A T 2: 111,314,008 (GRCm39) I78F probably damaging Het
Or8s8 G A 15: 98,354,614 (GRCm39) C141Y probably damaging Het
Polr3d A C 14: 70,678,755 (GRCm39) M117R possibly damaging Het
Ppp5c T C 7: 16,742,628 (GRCm39) I237V probably benign Het
Prrc2c G A 1: 162,504,945 (GRCm39) T2632M probably damaging Het
Ptprg C A 14: 12,213,697 (GRCm38) Q1022K probably damaging Het
Pus10 T A 11: 23,675,542 (GRCm39) H471Q probably damaging Het
Ralgapa1 A G 12: 55,689,174 (GRCm39) V1928A probably damaging Het
Rbpms2 CACT CACTACT 9: 65,558,947 (GRCm39) probably benign Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Rfpl4 T G 7: 5,113,357 (GRCm39) T269P probably benign Het
Rgs10 A G 7: 128,004,946 (GRCm39) V72A probably damaging Het
Rsph1 T C 17: 31,474,190 (GRCm39) N289S probably benign Het
Sbk2 T C 7: 4,966,121 (GRCm39) D21G probably benign Het
Shbg A T 11: 69,507,983 (GRCm39) D127E possibly damaging Het
Spag16 A G 1: 69,882,164 (GRCm39) E52G probably damaging Het
Ssh2 G A 11: 77,344,850 (GRCm39) G945D possibly damaging Het
Sstr3 A T 15: 78,424,473 (GRCm39) D91E probably damaging Het
Syne2 C A 12: 76,101,713 (GRCm39) A669E probably benign Het
Traf3 A G 12: 111,208,907 (GRCm39) I109V probably benign Het
Ube2j1 A G 4: 33,049,886 (GRCm39) T295A probably damaging Het
Usp46 A G 5: 74,163,828 (GRCm39) V276A probably benign Het
Vmn1r200 T C 13: 22,579,640 (GRCm39) S139P possibly damaging Het
Ydjc G A 16: 16,965,663 (GRCm39) V143M probably damaging Het
Zfp169 T C 13: 48,652,330 (GRCm39) E29G probably benign Het
Zfp292 A G 4: 34,808,935 (GRCm39) S1370P probably damaging Het
Zfp763 C T 17: 33,238,591 (GRCm39) D185N probably damaging Het
Zfp827 A T 8: 79,787,202 (GRCm39) N123Y probably damaging Het
Zfp979 A T 4: 147,698,442 (GRCm39) I89N probably damaging Het
Zfr2 T C 10: 81,080,583 (GRCm39) L419P probably damaging Het
Other mutations in Myh11
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGTCACACAAAGGTGGCTGTTCTC -3'
(R):5'- TTCCAGCAACTTCCTGGCAATACTC -3'

Sequencing Primer
(F):5'- ctgttctctgtcatactctctcc -3'
(R):5'- CAGGGAGTCAGACAATCTTGTCC -3'
Posted On 2014-05-14