Incidental Mutation 'R4806:Myh11'
ID 370705
Institutional Source Beutler Lab
Gene Symbol Myh11
Ensembl Gene ENSMUSG00000018830
Gene Name myosin, heavy polypeptide 11, smooth muscle
Synonyms smMHC, SM1, SM2
MMRRC Submission 042425-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4806 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 14012392-14109227 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 14018947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090287] [ENSMUST00000090287] [ENSMUST00000230397] [ENSMUST00000230397] [ENSMUST00000231567] [ENSMUST00000231567]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000090287
SMART Domains Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830

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 null
Transcript: ENSMUST00000090287
SMART Domains Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830

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 null
Transcript: ENSMUST00000230397
Predicted Effect probably null
Transcript: ENSMUST00000230397
Predicted Effect probably null
Transcript: ENSMUST00000231567
Predicted Effect probably null
Transcript: ENSMUST00000231567
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 100% (66/66)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,265,070 (GRCm39) probably null Het
2410137M14Rik T A 17: 37,289,746 (GRCm39) H28L probably benign Het
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Acd A G 8: 106,424,922 (GRCm39) V406A possibly damaging Het
Acin1 A T 14: 54,916,685 (GRCm39) probably benign Het
Agbl4 T C 4: 110,812,834 (GRCm39) V118A probably damaging Het
Arhgap5 A G 12: 52,565,486 (GRCm39) D819G probably damaging Het
BC049715 A T 6: 136,816,927 (GRCm39) I56F possibly damaging Het
C1rb A T 6: 124,551,908 (GRCm39) Q270L probably benign Het
Cadps2 C T 6: 23,688,859 (GRCm39) R121Q probably damaging Het
Cd84 A G 1: 171,679,688 (GRCm39) Y122C probably benign Het
Cklf C A 8: 104,984,067 (GRCm39) P77T probably damaging Het
Clrn2 T C 5: 45,611,346 (GRCm39) L65P probably damaging Het
Csde1 TCCTCGACCT TCCT 3: 102,963,685 (GRCm39) probably benign Het
Csf2rb2 T C 15: 78,169,490 (GRCm39) D446G probably benign Het
Csmd3 T C 15: 48,177,464 (GRCm39) E358G probably benign Het
Dmkn C T 7: 30,470,667 (GRCm39) T385I possibly damaging Het
Dnah10 A G 5: 124,896,408 (GRCm39) T3591A probably damaging Het
Dpp9 A G 17: 56,497,030 (GRCm39) L734P probably damaging Het
Edem2 A G 2: 155,570,913 (GRCm39) V39A possibly damaging Het
Glmp A C 3: 88,233,320 (GRCm39) probably benign Het
Gm20775 T C Y: 10,641,885 (GRCm39) noncoding transcript Het
Gpr179 T G 11: 97,240,610 (GRCm39) D271A possibly damaging Het
Gtf2ird1 A G 5: 134,412,750 (GRCm39) V587A probably damaging Het
Igfn1 T A 1: 135,895,095 (GRCm39) T1824S probably benign Het
Ighmbp2 A T 19: 3,311,589 (GRCm39) I942N probably damaging Het
Ints2 A G 11: 86,147,035 (GRCm39) L37P probably benign Het
Irgq T A 7: 24,233,470 (GRCm39) L437Q probably damaging Het
Kcnq4 A T 4: 120,570,291 (GRCm39) W351R probably damaging Het
Kif3b G A 2: 153,162,288 (GRCm39) A500T probably damaging Het
Lpp A G 16: 24,480,430 (GRCm39) D66G probably damaging Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mc4r T A 18: 66,992,559 (GRCm39) I185F probably damaging Het
Mdga1 T C 17: 30,061,128 (GRCm39) D621G probably benign Het
Med13 A G 11: 86,189,403 (GRCm39) S1169P probably benign Het
Naip1 G A 13: 100,562,129 (GRCm39) A1012V probably benign Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Plb1 G A 5: 32,447,196 (GRCm39) G321D probably damaging Het
Plxnd1 A G 6: 115,937,816 (GRCm39) V1510A probably damaging Het
Polr1e T A 4: 45,024,482 (GRCm39) M131K probably benign Het
Prdm10 T A 9: 31,241,237 (GRCm39) *342R probably null Het
Prex2 T C 1: 11,138,244 (GRCm39) F108L probably damaging Het
Psmg2 T A 18: 67,781,992 (GRCm39) I186N probably benign Het
Ros1 T A 10: 51,972,271 (GRCm39) E1614D probably damaging Het
Sin3a G A 9: 56,994,026 (GRCm39) V44M probably damaging Het
Slco1a1 G A 6: 141,854,735 (GRCm39) L639F possibly damaging Het
Smr2 T G 5: 88,246,289 (GRCm39) L101* probably null Het
Spata31d1b C T 13: 59,863,535 (GRCm39) P228S probably benign Het
Stat5b G T 11: 100,681,623 (GRCm39) H544N probably benign Het
Syk A T 13: 52,786,963 (GRCm39) Y319F probably benign Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Tsc22d1 A G 14: 76,654,428 (GRCm39) probably null Het
Vmn2r52 T A 7: 9,893,169 (GRCm39) T657S probably damaging Het
Vmn2r63 A T 7: 42,576,314 (GRCm39) S500T probably benign Het
Vps45 A C 3: 95,953,725 (GRCm39) V209G probably benign Het
Xrcc1 C A 7: 24,269,905 (GRCm39) A442E probably benign Het
Ythdc1 T A 5: 86,970,704 (GRCm39) V430E probably damaging Het
Zfp341 G A 2: 154,487,786 (GRCm39) probably benign Het
Zfp422 A T 6: 116,603,623 (GRCm39) N125K probably damaging Het
Zfp53 T A 17: 21,725,263 (GRCm39) D58E possibly damaging Het
Zfp707 C T 15: 75,845,000 (GRCm39) Q66* 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
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
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'- CGTAAGGGGTCATGAAGCAC -3'
(R):5'- ACGGAGTGGCTTATGCTGAAC -3'

Sequencing Primer
(F):5'- GGTCATGAAGCACCAGGC -3'
(R):5'- CCTCTTGATGGATCAGGCGTCAG -3'
Posted On 2016-02-04