Incidental Mutation 'R7176:Myh11'
ID 558642
Institutional Source Beutler Lab
Gene Symbol Myh11
Ensembl Gene ENSMUSG00000018830
Gene Name myosin, heavy polypeptide 11, smooth muscle
Synonyms smMHC, SM1, SM2
MMRRC Submission 045267-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7176 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 14012392-14109227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14033690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1068 (H1068L)
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: H1068L

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 benign
Transcript: ENSMUST00000230397
AA Change: H1068L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000231567
AA Change: H1075L

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G T 17: 46,635,203 (GRCm39) H267N probably benign Het
Abtb2 A G 2: 103,539,720 (GRCm39) D695G probably benign Het
Adam21 C T 12: 81,607,022 (GRCm39) D247N possibly damaging Het
Adnp T C 2: 168,024,578 (GRCm39) N906D probably benign Het
Ankrd17 A T 5: 90,416,594 (GRCm39) H1079Q probably damaging Het
Aqp3 T A 4: 41,095,202 (GRCm39) N60Y probably damaging Het
Art4 T G 6: 136,834,166 (GRCm39) T26P probably benign Het
Arvcf T C 16: 18,218,477 (GRCm39) L553P probably damaging Het
Asxl1 T A 2: 153,243,908 (GRCm39) I1487N probably damaging Het
Capn3 A T 2: 120,334,973 (GRCm39) Y820F possibly damaging Het
Catip A G 1: 74,401,941 (GRCm39) T39A probably damaging Het
Ccdc168 A T 1: 44,099,506 (GRCm39) S531T probably benign Het
Ccdc18 T A 5: 108,315,972 (GRCm39) C481S probably benign Het
Ccnf A G 17: 24,468,376 (GRCm39) I7T possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdkl4 A T 17: 80,851,221 (GRCm39) Y160* probably null Het
Celsr3 C T 9: 108,722,961 (GRCm39) P2783S probably benign Het
Cisd3 A T 11: 97,576,959 (GRCm39) D11V probably benign Het
Daxx A T 17: 34,132,292 (GRCm39) H512L unknown Het
Dip2b A G 15: 100,067,199 (GRCm39) H567R probably damaging Het
Dnah7c C A 1: 46,469,969 (GRCm39) A18E probably benign Het
Eif3d A T 15: 77,847,434 (GRCm39) V268D probably damaging Het
Eif4g3 T A 4: 137,898,497 (GRCm39) H1089Q probably damaging Het
Fmnl2 A G 2: 53,004,162 (GRCm39) M625V unknown Het
Foxn1 T C 11: 78,251,693 (GRCm39) R513G possibly damaging Het
Gemin5 C T 11: 58,056,828 (GRCm39) V134I probably benign Het
Gtf2h3 A G 5: 124,728,433 (GRCm39) R161G probably damaging Het
Ice1 A G 13: 70,772,525 (GRCm39) probably null Het
Il1rl1 T C 1: 40,485,766 (GRCm39) Y306H probably damaging Het
Kbtbd7 A T 14: 79,665,194 (GRCm39) E342V possibly damaging Het
Kyat3 A T 3: 142,443,600 (GRCm39) K404N possibly damaging Het
Lins1 T C 7: 66,363,553 (GRCm39) W483R probably benign Het
Lipo2 A G 19: 33,723,207 (GRCm39) I194T possibly damaging Het
Mcm8 G T 2: 132,661,992 (GRCm39) A137S probably benign Het
Mdm1 C A 10: 117,978,770 (GRCm39) Q12K probably damaging Het
Mrgprb5 C A 7: 47,818,059 (GRCm39) L225F possibly damaging Het
Ngef A T 1: 87,408,417 (GRCm39) V550E possibly damaging Het
Nrg1 G A 8: 32,458,064 (GRCm39) Q84* probably null Het
Obp2b G T 2: 25,627,760 (GRCm39) V59L possibly damaging Het
Ocln C A 13: 100,651,590 (GRCm39) G327C probably damaging Het
Ocln A C 13: 100,651,591 (GRCm39) N326K probably benign Het
Or10ag55-ps1 C T 2: 87,115,378 (GRCm39) A248V probably damaging Het
Otogl T C 10: 107,614,772 (GRCm39) D1960G probably damaging Het
Pik3c2a T C 7: 115,987,331 (GRCm39) D530G possibly damaging Het
Plod1 A T 4: 147,997,744 (GRCm39) M655K probably benign Het
Ppp4r3b A G 11: 29,148,904 (GRCm39) N449D probably damaging Het
Ppp6r3 G T 19: 3,521,989 (GRCm39) T563K probably damaging Het
Prepl T A 17: 85,376,454 (GRCm39) L533F probably benign Het
Rbl1 G A 2: 157,030,245 (GRCm39) R421W probably damaging Het
Rrp15 G A 1: 186,453,730 (GRCm39) S239L probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 A G 5: 124,530,944 (GRCm39) S815P probably benign Het
Scn7a G A 2: 66,506,632 (GRCm39) T1419I probably damaging Het
Setdb1 A G 3: 95,244,458 (GRCm39) probably null Het
Shpk A G 11: 73,113,814 (GRCm39) H409R probably benign Het
Slamf6 A C 1: 171,761,858 (GRCm39) N93T probably benign Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc35g1 T A 19: 38,391,771 (GRCm39) V351E probably damaging Het
Smcr8 A T 11: 60,669,772 (GRCm39) I307F probably damaging Het
Spats2l T C 1: 57,977,077 (GRCm39) I305T possibly damaging Het
Speer4c1 T C 5: 15,916,536 (GRCm39) T144A probably benign Het
Tbl3 G A 17: 24,919,732 (GRCm39) T774I probably benign Het
Ush2a A G 1: 188,269,925 (GRCm39) H1724R probably benign Het
Vcan A G 13: 89,837,055 (GRCm39) S2830P probably benign Het
Vmn2r27 T A 6: 124,168,995 (GRCm39) I712F probably benign Het
Wdr59 T G 8: 112,219,388 (GRCm39) Q223P Het
Zfp28 T A 7: 6,386,456 (GRCm39) C22S possibly damaging Het
Zfp536 T G 7: 37,180,276 (GRCm39) probably null 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
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'- TCGTTGGGAAAGCTTGCAGG -3'
(R):5'- CCAAGCTCGGCATTCCCTAAAG -3'

Sequencing Primer
(F):5'- CTTGCAGGAAACCAGGTCTGAC -3'
(R):5'- TCGGCATTCCCTAAAGTAAACTGGAG -3'
Posted On 2019-06-26