Incidental Mutation 'R8261:Myh11'
ID 639955
Institutional Source Beutler Lab
Gene Symbol Myh11
Ensembl Gene ENSMUSG00000018830
Gene Name myosin, heavy polypeptide 11, smooth muscle
Synonyms smMHC, SM1, SM2
MMRRC Submission 067686-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8261 (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 C at 14041867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 719 (I719V)
Ref Sequence ENSEMBL: ENSMUSP00000087756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090287]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830
AA Change: I719V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (76/76)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,425 (GRCm39) E5G probably benign Het
Adam23 T C 1: 63,567,957 (GRCm39) V202A noncoding transcript Het
Adamtsl1 A C 4: 86,195,120 (GRCm39) E512D probably damaging Het
Ahnak A T 19: 8,982,817 (GRCm39) D1367V probably damaging Het
Angpt4 A T 2: 151,769,084 (GRCm39) Q198L probably benign Het
Apcdd1 T A 18: 63,066,974 (GRCm39) H29Q possibly damaging Het
Cdh16 T A 8: 105,341,811 (GRCm39) K755* probably null Het
Cdk6 T G 5: 3,440,685 (GRCm39) F80V probably benign Het
Chd1 T C 17: 17,607,804 (GRCm39) S451P probably benign Het
Chd6 A G 2: 160,799,002 (GRCm39) L2361P probably damaging Het
Chst8 A G 7: 34,447,579 (GRCm39) M13T possibly damaging Het
Cntnap2 T C 6: 47,072,627 (GRCm39) L1065P probably damaging Het
Dctn4 T C 18: 60,659,343 (GRCm39) V14A possibly damaging Het
Dicer1 A T 12: 104,657,865 (GRCm39) V1903D probably damaging Het
E2f2 A G 4: 135,911,791 (GRCm39) silent Het
Eif4g3 T A 4: 137,898,429 (GRCm39) S902T possibly damaging Het
Emid1 G T 11: 5,084,353 (GRCm39) A152D probably benign Het
Fer1l6 T A 15: 58,432,345 (GRCm39) N297K possibly damaging Het
Fes T C 7: 80,032,902 (GRCm39) D281G probably null Het
Frmpd2 T C 14: 33,224,934 (GRCm39) V133A probably benign Het
Fry A G 5: 150,369,372 (GRCm39) Y2282C probably damaging Het
Gm10377 C T 14: 42,616,664 (GRCm39) probably null Het
Gm1527 A G 3: 28,974,749 (GRCm39) T521A probably damaging Het
Gpr141 T A 13: 19,936,013 (GRCm39) H254L probably benign Het
Gpr160 A G 3: 30,950,096 (GRCm39) E56G probably benign Het
Grid2ip T G 5: 143,367,695 (GRCm39) probably null Het
Grin2a A G 16: 9,481,382 (GRCm39) F473S probably damaging Het
Igkv1-131 T C 6: 67,743,102 (GRCm39) T94A probably damaging Het
Inava T A 1: 136,153,215 (GRCm39) N226Y probably damaging Het
Iqgap2 A G 13: 95,772,078 (GRCm39) L1367P probably damaging Het
Kdm5d T A Y: 936,929 (GRCm39) M856K probably damaging Het
Kirrel1 T C 3: 86,995,309 (GRCm39) probably benign Het
Lad1 T C 1: 135,755,500 (GRCm39) S259P probably damaging Het
Lalba A T 15: 98,379,992 (GRCm39) F86Y possibly damaging Het
Lrfn5 G A 12: 61,886,323 (GRCm39) C37Y probably damaging Het
Man2c1 A G 9: 57,046,942 (GRCm39) T665A probably benign Het
Ms4a20 T A 19: 11,087,707 (GRCm39) S75C probably damaging Het
Nbl1 A T 4: 138,812,832 (GRCm39) C34S probably damaging Het
Ncapg T A 5: 45,844,730 (GRCm39) I575N possibly damaging Het
Nlgn1 T C 3: 25,487,816 (GRCm39) T840A possibly damaging Het
Nrdc T C 4: 108,873,876 (GRCm39) S231P possibly damaging Het
Nrg2 T C 18: 36,165,428 (GRCm39) K395E probably benign Het
Nrip1 A T 16: 76,088,949 (GRCm39) N869K possibly damaging Het
Or2a14 T A 6: 43,130,242 (GRCm39) M1K probably null Het
Or4c12 A G 2: 89,773,716 (GRCm39) F248L probably benign Het
Or8s16 A T 15: 98,210,546 (GRCm39) M295K probably benign Het
Otub2 G T 12: 103,369,161 (GRCm39) probably null Het
Paxbp1 T C 16: 90,834,303 (GRCm39) D161G probably benign Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Per2 T A 1: 91,361,170 (GRCm39) Q495L possibly damaging Het
Plxna2 T A 1: 194,431,724 (GRCm39) V571E probably damaging Het
Prr7 C A 13: 55,620,735 (GRCm39) P248T possibly damaging Het
Ptprr A T 10: 116,073,169 (GRCm39) T464S possibly damaging Het
Rapgef2 A G 3: 78,993,325 (GRCm39) V721A probably benign Het
Rfx1 A T 8: 84,819,479 (GRCm39) Y625F probably benign Het
Rps6kb2 G T 19: 4,211,195 (GRCm39) A110D possibly damaging Het
Setdb2 A T 14: 59,651,141 (GRCm39) probably benign Het
Slc25a31 T C 3: 40,679,351 (GRCm39) I272T probably damaging Het
Smpd1 T C 7: 105,204,520 (GRCm39) V133A probably benign Het
Sorl1 T C 9: 41,925,777 (GRCm39) D1185G probably damaging Het
Spag6 T A 2: 18,750,301 (GRCm39) L449H probably benign Het
Sptb C A 12: 76,668,036 (GRCm39) R687L probably benign Het
Sptbn5 A T 2: 119,877,616 (GRCm39) V1012E noncoding transcript Het
Tmem192 A G 8: 65,416,972 (GRCm39) I188V probably benign Het
Tmem253 G A 14: 52,256,708 (GRCm39) V194M probably benign Het
Tph1 A G 7: 46,303,173 (GRCm39) silent Het
Trak1 A G 9: 121,280,733 (GRCm39) E374G probably damaging Het
Trpv1 A T 11: 73,145,593 (GRCm39) probably null Het
Trub2 T C 2: 29,667,725 (GRCm39) H305R probably benign Het
Ttn A G 2: 76,747,768 (GRCm39) V4427A probably benign Het
Vasn A G 16: 4,466,160 (GRCm39) T36A probably damaging Het
Vmn1r8 A T 6: 57,013,158 (GRCm39) I70F probably benign Het
Vps13c A T 9: 67,862,262 (GRCm39) I2960L probably damaging Het
Zdhhc4 C A 5: 143,307,588 (GRCm39) M144I probably benign Het
Zfp273 T A 13: 67,974,070 (GRCm39) N399K probably benign Het
Zfp976 T A 7: 42,262,125 (GRCm39) T572S unknown Het
Zmym4 A G 4: 126,798,360 (GRCm39) C756R 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
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'- ACCATGAGAATGCAGGCTTG -3'
(R):5'- GGTAACAAGGCACACTGTCTCTC -3'

Sequencing Primer
(F):5'- AGGCTTGCTTTCCATCCATGAAG -3'
(R):5'- GTCTCTCAGATAACCCCTGTTAAGAC -3'
Posted On 2020-07-28