Incidental Mutation 'R9631:Myh11'
ID 725529
Institutional Source Beutler Lab
Gene Symbol Myh11
Ensembl Gene ENSMUSG00000018830
Gene Name myosin, heavy polypeptide 11, smooth muscle
Synonyms smMHC, SM1, SM2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9631 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 14012392-14109227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14025441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1443 (V1443E)
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: V1443E

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 possibly damaging
Transcript: ENSMUST00000230397
AA Change: V1443E

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000231567
AA Change: V1450E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atl3 A G 19: 7,509,553 (GRCm39) N427S probably benign Het
Bcar3 T A 3: 122,301,801 (GRCm39) D165E possibly damaging Het
Brap T C 5: 121,822,435 (GRCm39) I437T probably benign Het
Bspry T C 4: 62,400,955 (GRCm39) probably null Het
Camkv G T 9: 107,822,990 (GRCm39) V77L probably benign Het
Capn15 A T 17: 26,182,409 (GRCm39) D566E probably damaging Het
Ccar2 A G 14: 70,389,344 (GRCm39) V76A probably damaging Het
Ccdc142 T C 6: 83,084,142 (GRCm39) C516R probably benign Het
Ccdc92b T A 11: 74,520,845 (GRCm39) V49E Het
Ccr7 A G 11: 99,036,616 (GRCm39) V102A probably benign Het
Cdh23 A T 10: 60,243,168 (GRCm39) V1069E possibly damaging Het
Cimip2c A G 5: 30,639,529 (GRCm39) D152G Het
Clpb T G 7: 101,434,605 (GRCm39) V467G possibly damaging Het
Crebzf T A 7: 90,093,013 (GRCm39) L264Q probably damaging Het
Ctif A G 18: 75,605,025 (GRCm39) F505L probably benign Het
Cyp2j5 A G 4: 96,529,522 (GRCm39) I283T probably benign Het
Ddx39a C A 8: 84,447,729 (GRCm39) H191Q possibly damaging Het
Dnajc9 A T 14: 20,438,670 (GRCm39) probably null Het
Dock7 A G 4: 98,854,560 (GRCm39) L1568P unknown Het
Dpp10 T C 1: 123,269,432 (GRCm39) Y659C probably damaging Het
Eef1akmt3 A G 10: 126,877,161 (GRCm39) F35L probably benign Het
Etl4 A T 2: 20,666,749 (GRCm39) N52I probably benign Het
F5 T A 1: 164,014,423 (GRCm39) C565S probably damaging Het
Fam170b T C 14: 32,557,641 (GRCm39) S159P probably damaging Het
Fitm2 A G 2: 163,311,757 (GRCm39) I152T probably damaging Het
Fn1 T C 1: 71,625,387 (GRCm39) D2473G probably benign Het
Fzd2 C A 11: 102,496,916 (GRCm39) D453E probably benign Het
Grm5 T C 7: 87,624,560 (GRCm39) Y376H probably damaging Het
H2-Q6 T A 17: 35,644,292 (GRCm39) H91Q probably benign Het
Hspa4 A T 11: 53,160,582 (GRCm39) V498E possibly damaging Het
Igsf10 A T 3: 59,237,904 (GRCm39) L759H probably damaging Het
Jph1 T C 1: 17,161,607 (GRCm39) T352A probably damaging Het
Kit C T 5: 75,767,689 (GRCm39) T24M possibly damaging Het
Krtap28-13 T G 1: 83,038,897 (GRCm39) C61G unknown Het
Lgr5 T A 10: 115,302,513 (GRCm39) I293F probably damaging Het
Lyzl4 GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAAGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG 9: 121,413,055 (GRCm39) probably null Het
Mccc1 C A 3: 36,014,185 (GRCm39) E711* probably null Het
Mroh2b C T 15: 4,946,556 (GRCm39) T452I probably damaging Het
Ms4a10 G A 19: 10,944,451 (GRCm39) T111I probably damaging Het
Oc90 A G 15: 65,769,629 (GRCm39) L76P probably damaging Het
Or10d3 G A 9: 39,461,508 (GRCm39) R220* probably null Het
Or4c118 T C 2: 88,975,522 (GRCm39) probably benign Het
Or4f57 A G 2: 111,791,377 (GRCm39) F14L probably benign Het
Or56a42-ps1 A T 7: 104,775,607 (GRCm39) I290N probably damaging Het
Or5b97 A G 19: 12,878,502 (GRCm39) V214A possibly damaging Het
Or8b57 A G 9: 40,004,223 (GRCm39) V13A probably damaging Het
Or8c10 G A 9: 38,279,714 (GRCm39) V281M possibly damaging Het
Or8g52 A T 9: 39,631,161 (GRCm39) T213S possibly damaging Het
Pgr C A 9: 8,900,847 (GRCm39) Q127K probably benign Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Rfc1 C T 5: 65,429,851 (GRCm39) V852M probably damaging Het
Rin2 T A 2: 145,718,437 (GRCm39) L639H probably damaging Het
Rpap2 T A 5: 107,768,292 (GRCm39) W377R probably damaging Het
Senp7 T C 16: 55,975,631 (GRCm39) S446P probably benign Het
Sipa1l1 A G 12: 82,387,776 (GRCm39) M1V probably null Het
Slc25a36 A C 9: 96,982,153 (GRCm39) S61A probably benign Het
Sptbn2 C T 19: 4,788,218 (GRCm39) R1066W probably damaging Het
Tgm6 A G 2: 129,977,810 (GRCm39) S50G probably benign Het
Thada T C 17: 84,538,584 (GRCm39) S1475G probably benign Het
Tln1 G A 4: 43,545,694 (GRCm39) A928V probably damaging Het
Trip11 G A 12: 101,859,807 (GRCm39) L357F probably benign Het
Ttc3 G T 16: 94,171,581 (GRCm39) probably benign Het
Ttc38 T C 15: 85,728,659 (GRCm39) S204P possibly damaging Het
Vmn1r237 A T 17: 21,534,660 (GRCm39) I128F probably benign Het
Vmn2r50 A T 7: 9,786,990 (GRCm39) L39* probably null Het
Vps4b A G 1: 106,707,835 (GRCm39) V216A possibly damaging Het
Zfp217 T C 2: 169,956,790 (GRCm39) N736S possibly damaging Het
Zfp985 A G 4: 147,665,742 (GRCm39) E25G probably damaging Het
Zfr C T 15: 12,154,628 (GRCm39) R604* probably null Het
Zscan18 A G 7: 12,505,657 (GRCm39) S577P 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
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
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'- TCTGATGTGTTCATGCAGCC -3'
(R):5'- CTCAGACTCTAAGAAGAAGCTGC -3'

Sequencing Primer
(F):5'- ATGCAGCCTCCTATGTCATGG -3'
(R):5'- ACTTTGCAAGTACCATCGAGG -3'
Posted On 2022-09-12