Incidental Mutation 'R9780:Myh11'
ID 734007
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 # R9780 (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 C at 14064613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 235 (K235R)
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: K235R

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: K235R

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000231567
AA Change: K242R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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
Abca14 A G 7: 119,911,447 (GRCm39) T1344A probably benign Het
Actrt3 T A 3: 30,652,876 (GRCm39) I73F probably damaging Het
Ankrd24 T C 10: 81,482,196 (GRCm39) S915P possibly damaging Het
Ano1 A T 7: 144,209,358 (GRCm39) F281I probably damaging Het
Arhgap42 A G 9: 9,059,102 (GRCm39) V148A probably benign Het
Arnt2 A G 7: 83,954,426 (GRCm39) I256T probably benign Het
Bloc1s3 G A 7: 19,241,408 (GRCm39) S40L possibly damaging Het
Cep68 G A 11: 20,192,142 (GRCm39) P19L probably benign Het
Chst9 T A 18: 15,586,221 (GRCm39) Q114L probably benign Het
Cpa2 T A 6: 30,545,536 (GRCm39) F106I probably benign Het
Cplane1 A G 15: 8,258,123 (GRCm39) E2123G probably benign Het
Crocc T C 4: 140,756,556 (GRCm39) D1187G probably benign Het
Dhx8 A T 11: 101,632,403 (GRCm39) D454V possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Eif3a A T 19: 60,766,398 (GRCm39) L310H probably damaging Het
Ergic3 C A 2: 155,853,164 (GRCm39) Y202* probably null Het
Fam117a A T 11: 95,268,309 (GRCm39) I237L possibly damaging Het
Fcsk T C 8: 111,613,743 (GRCm39) M773V probably benign Het
Gcnt4 T A 13: 97,083,948 (GRCm39) S415T probably benign Het
Hacl1 C A 14: 31,362,519 (GRCm39) V43L possibly damaging Het
Hbb-bh2 A G 7: 103,489,624 (GRCm39) L4P probably damaging Het
Hmbs A G 9: 44,247,985 (GRCm39) L357P probably damaging Het
Hpcal1 A G 12: 17,836,494 (GRCm39) Y108C probably damaging Het
Hspa14 A T 2: 3,490,741 (GRCm39) M482K probably damaging Het
Ifi27l2b G T 12: 103,417,461 (GRCm39) P242Q unknown Het
Insyn1 A G 9: 58,406,881 (GRCm39) N264D probably damaging Het
Itpr1 T C 6: 108,487,795 (GRCm39) V2407A probably benign Het
Lcp1 T C 14: 75,440,178 (GRCm39) F154S probably damaging Het
Lmod2 T C 6: 24,604,233 (GRCm39) S403P probably damaging Het
Lrrc63 G A 14: 75,360,500 (GRCm39) A334V probably damaging Het
Lrriq1 T A 10: 103,025,824 (GRCm39) T933S probably damaging Het
Mga A G 2: 119,747,253 (GRCm39) Y468C probably benign Het
Msh4 T C 3: 153,582,342 (GRCm39) Y510C probably damaging Het
Nek2 A T 1: 191,554,738 (GRCm39) D150V probably damaging Het
Nfkbil1 C A 17: 35,439,898 (GRCm39) R205L possibly damaging Het
Nox3 A G 17: 3,736,260 (GRCm39) F122S possibly damaging Het
Nrxn1 A G 17: 90,931,042 (GRCm39) V718A possibly damaging Het
Oplah A G 15: 76,181,940 (GRCm39) I1061T probably damaging Het
Or13e8 G A 4: 43,697,193 (GRCm39) probably benign Het
Or2y16 G A 11: 49,335,014 (GRCm39) C112Y possibly damaging Het
Or51b17 A G 7: 103,542,631 (GRCm39) S104P probably damaging Het
Or9m1 A G 2: 87,733,426 (GRCm39) L198P probably damaging Het
Pcf11 A T 7: 92,313,313 (GRCm39) D123E possibly damaging Het
Pcna C T 2: 132,094,794 (GRCm39) E55K probably benign Het
Pip5k1c T C 10: 81,141,030 (GRCm39) V46A probably benign Het
Plce1 T G 19: 38,609,134 (GRCm39) L481R possibly damaging Het
Psma7 A T 2: 179,678,339 (GRCm39) Y228N unknown Het
Rcbtb1 T A 14: 59,465,796 (GRCm39) Y380N probably benign Het
Rin2 A T 2: 145,718,551 (GRCm39) E677V probably damaging Het
Scgb2b11 A G 7: 31,909,861 (GRCm39) L75P probably damaging Het
Scn4a A G 11: 106,226,235 (GRCm39) V775A probably damaging Het
Setx A G 2: 29,016,999 (GRCm39) D34G possibly damaging Het
Slc38a9 A T 13: 112,862,591 (GRCm39) D430V probably damaging Het
Snapc4 A T 2: 26,267,019 (GRCm39) N77K possibly damaging Het
Stk32a T G 18: 43,375,049 (GRCm39) F20V probably benign Het
Taf1b G A 12: 24,564,818 (GRCm39) G145D probably damaging Het
Tomt G C 7: 101,549,536 (GRCm39) Q251E probably benign Het
Tsc1 G A 2: 28,565,761 (GRCm39) E471K probably damaging Het
Ttll9 G A 2: 152,836,023 (GRCm39) A256T possibly damaging Het
Ttn A T 2: 76,774,289 (GRCm39) C2252S probably benign Het
Ttn A T 2: 76,785,035 (GRCm39) D797E unknown Het
Usf3 T A 16: 44,039,181 (GRCm39) N1220K possibly damaging Het
Usp22 A T 11: 61,050,069 (GRCm39) H355Q probably benign Het
Virma T A 4: 11,513,442 (GRCm39) V432E possibly damaging Het
Vtn A C 11: 78,393,003 (GRCm39) D456A probably damaging Het
Zbbx A G 3: 74,945,359 (GRCm39) S688P probably damaging Het
Zfhx2 C A 14: 55,312,494 (GRCm39) D67Y probably benign Het
Zfp87 T C 13: 67,665,241 (GRCm39) H407R 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
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
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
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'- TGCCTTTAGTCAGAGCTCCC -3'
(R):5'- GATGTCTTCTCTGTCAGAAAGCTC -3'

Sequencing Primer
(F):5'- AGAGCTCCCCTATACTCTTACAG -3'
(R):5'- GAAAGCTCTTCTGAACAGATCTCG -3'
Posted On 2022-11-14