Incidental Mutation 'R9151:Myh11'
ID 695065
Institutional Source Beutler Lab
Gene Symbol Myh11
Ensembl Gene ENSMUSG00000018830
Gene Name myosin, heavy polypeptide 11, smooth muscle
Synonyms smMHC, SM1, SM2
MMRRC Submission 068973-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9151 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 14012392-14109227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 14050439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 509 (I509L)
Ref Sequence ENSEMBL: ENSMUSP00000087756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090287] [ENSMUST00000230397] [ENSMUST00000231567]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830
AA Change: I509L

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
Predicted Effect probably benign
Transcript: ENSMUST00000231567
AA Change: I516L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.3305 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (71/71)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,188,908 (GRCm39) F850L probably benign Het
Adam1a A T 5: 121,657,411 (GRCm39) D627E probably damaging Het
Add2 C A 6: 86,081,459 (GRCm39) probably benign Het
Anpep T C 7: 79,491,785 (GRCm39) N72S probably benign Het
Aqp6 A G 15: 99,501,655 (GRCm39) T238A possibly damaging Het
Arhgef38 G T 3: 132,912,706 (GRCm39) T111K Het
Atg10 A G 13: 91,189,032 (GRCm39) Y93H probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cald1 A G 6: 34,732,682 (GRCm39) N286S unknown Het
Caps2 A T 10: 112,031,829 (GRCm39) I322F possibly damaging Het
Cbx3 T A 6: 51,455,533 (GRCm39) S95T probably benign Het
Ccdc24 T C 4: 117,727,102 (GRCm39) T83A unknown Het
Cntn1 T C 15: 92,140,864 (GRCm39) Y197H probably damaging Het
Cpd A G 11: 76,675,275 (GRCm39) I1282T possibly damaging Het
Crat A T 2: 30,295,052 (GRCm39) S454R probably damaging Het
D2hgdh G A 1: 93,754,338 (GRCm39) V126I probably benign Het
Dcst1 A G 3: 89,271,558 (GRCm39) V75A probably benign Het
Dnm1l T C 16: 16,176,668 (GRCm39) D21G probably benign Het
Evc2 A G 5: 37,504,823 (GRCm39) N74D probably benign Het
Gm19965 A T 1: 116,748,942 (GRCm39) M208L Het
Gprc6a T G 10: 51,497,182 (GRCm39) T454P possibly damaging Het
Gprin1 C T 13: 54,886,778 (GRCm39) V499M probably benign Het
Gtf3c5 A G 2: 28,463,577 (GRCm39) Y194H probably damaging Het
Hcn4 T C 9: 58,767,880 (GRCm39) V1147A possibly damaging Het
Ighv1-82 A C 12: 115,916,342 (GRCm39) V56G probably damaging Het
Ins2 T C 7: 142,232,505 (GRCm39) D93G possibly damaging Het
Itgb8 A G 12: 119,130,535 (GRCm39) S658P probably benign Het
Kcnmb1 T C 11: 33,920,263 (GRCm39) F159L probably benign Het
Klf1 C T 8: 85,629,954 (GRCm39) L260F probably benign Het
Larp4 T A 15: 99,888,205 (GRCm39) S140T possibly damaging Het
Maneal C A 4: 124,755,542 (GRCm39) R140L probably benign Het
Mfsd11 T A 11: 116,750,323 (GRCm39) V114D Het
Muc4 A G 16: 32,752,617 (GRCm38) T832A probably benign Het
Myh13 A T 11: 67,252,149 (GRCm39) E1419V probably damaging Het
Myh7b A G 2: 155,474,439 (GRCm39) E1718G probably damaging Het
Myo9b T A 8: 71,807,871 (GRCm39) probably benign Het
Notch1 A T 2: 26,367,939 (GRCm39) L656Q probably benign Het
Nova1 A G 12: 46,746,813 (GRCm39) I488T probably damaging Het
Or51r1 A T 7: 102,228,500 (GRCm39) E266V probably damaging Het
Or5b113 A T 19: 13,342,222 (GRCm39) T77S possibly damaging Het
Or5b21 A G 19: 12,839,976 (GRCm39) Y279C probably damaging Het
Or5d18 A G 2: 87,864,697 (GRCm39) V262A probably damaging Het
Or6c35 A G 10: 129,169,623 (GRCm39) N291S probably damaging Het
Or6d13 A T 6: 116,517,990 (GRCm39) N192I possibly damaging Het
Pax6 C T 2: 105,523,097 (GRCm39) S325L probably benign Het
Phldb1 T C 9: 44,619,740 (GRCm39) D142G probably null Het
Phldb3 T G 7: 24,324,048 (GRCm39) probably benign Het
Pikfyve G T 1: 65,235,898 (GRCm39) R190L probably damaging Het
Plagl2 A T 2: 153,074,540 (GRCm39) H120Q probably damaging Het
Pou2f1 A T 1: 165,703,640 (GRCm39) probably benign Het
Pramel58 A G 5: 94,831,836 (GRCm39) Y281C possibly damaging Het
Prpf6 A G 2: 181,250,001 (GRCm39) R54G possibly damaging Het
Prss33 T C 17: 24,052,966 (GRCm39) E236G probably benign Het
Ptpru T C 4: 131,522,278 (GRCm39) Y709C probably benign Het
Rcc1l A G 5: 134,197,057 (GRCm39) V212A probably benign Het
Rtl1 G A 12: 109,560,007 (GRCm39) L611F Het
Scp2 A G 4: 107,931,603 (GRCm39) I344T possibly damaging Het
Serpinb2 A T 1: 107,449,890 (GRCm39) D101V possibly damaging Het
Slc13a1 T C 6: 24,097,662 (GRCm39) T422A probably damaging Het
Slc38a10 G T 11: 120,007,762 (GRCm39) T406K probably benign Het
Smad4 T C 18: 73,782,806 (GRCm39) E376G probably damaging Het
Smarcb1 T C 10: 75,750,916 (GRCm39) E115G probably benign Het
Spata31h1 A T 10: 82,120,928 (GRCm39) H4027Q probably damaging Het
Taf5 G A 19: 47,063,370 (GRCm39) V307I probably damaging Het
Tnc T C 4: 63,938,686 (GRCm39) N51S possibly damaging Het
Trp53inp2 G T 2: 155,228,558 (GRCm39) R171L possibly damaging Het
Ttc13 A T 8: 125,402,021 (GRCm39) D579E probably benign Het
Ttn A T 2: 76,775,896 (GRCm39) N1761K unknown Het
Ttpa C T 4: 20,008,401 (GRCm39) probably benign Het
Ugt3a1 G A 15: 9,362,051 (GRCm39) V276I probably benign Het
Usp4 T A 9: 108,244,011 (GRCm39) H296Q probably benign Het
Vmn1r119 T A 7: 20,745,593 (GRCm39) H263L possibly damaging Het
Vmn2r81 A G 10: 79,103,905 (GRCm39) D176G Het
Wdr1 A T 5: 38,687,468 (GRCm39) probably benign Het
Zfp488 T G 14: 33,692,695 (GRCm39) Q156P possibly 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
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
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'- AGTGGACCAAGCACAGACTC -3'
(R):5'- CTTTGTGAGCTCATACGGCTC -3'

Sequencing Primer
(F):5'- CCTCAGCTACACAGTGAGTTTGAAG -3'
(R):5'- CTCAGCCGCCCTCCCTC -3'
Posted On 2022-01-20