Incidental Mutation 'R4964:Myh11'
ID 383836
Institutional Source Beutler Lab
Gene Symbol Myh11
Ensembl Gene ENSMUSG00000018830
Gene Name myosin, heavy polypeptide 11, smooth muscle
Synonyms smMHC, SM1, SM2
MMRRC Submission 042561-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4964 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 14012392-14109227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14023818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1512 (E1512G)
Ref Sequence ENSEMBL: ENSMUSP00000155052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090287] [ENSMUST00000230397] [ENSMUST00000231567]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090287
AA Change: E1512G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830
AA Change: E1512G

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 damaging
Transcript: ENSMUST00000230397
AA Change: E1512G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231567
AA Change: E1519G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.2873 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 98% (100/102)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,610,757 (GRCm39) probably benign Het
9030619P08Rik T A 15: 75,303,267 (GRCm39) noncoding transcript Het
A430033K04Rik G T 5: 138,645,119 (GRCm39) E335* probably null Het
Abcb1b A T 5: 8,862,671 (GRCm39) T118S probably benign Het
Abcb1b T A 5: 8,911,602 (GRCm39) I133N probably damaging Het
Acox3 A G 5: 35,747,080 (GRCm39) N166D probably damaging Het
Adam5 T C 8: 25,276,248 (GRCm39) Y473C probably damaging Het
Ankmy2 A G 12: 36,236,917 (GRCm39) K242E possibly damaging Het
Apc2 A C 10: 80,149,841 (GRCm39) I1603L probably benign Het
Arhgef25 T A 10: 127,021,472 (GRCm39) I249F probably damaging Het
Birc2 T C 9: 7,860,553 (GRCm39) H255R probably benign Het
Cables1 A T 18: 12,074,334 (GRCm39) R486W possibly damaging Het
Caskin1 A T 17: 24,726,135 (GRCm39) D1414V probably damaging Het
Ccdc175 A G 12: 72,227,619 (GRCm39) S55P probably damaging Het
Ccdc57 A T 11: 120,751,978 (GRCm39) S868T probably benign Het
Ccny A T 18: 9,449,516 (GRCm39) probably null Het
Cdc34b A T 11: 94,633,087 (GRCm39) I96F probably damaging Het
Ctnnd1 A G 2: 84,452,417 (GRCm39) F69L possibly damaging Het
Cul9 C T 17: 46,849,451 (GRCm39) D565N probably damaging Het
Cxcl16 A G 11: 70,346,519 (GRCm39) V208A probably benign Het
Cyb5rl A G 4: 106,926,329 (GRCm39) probably benign Het
Ddx18 T C 1: 121,493,823 (GRCm39) K54E probably benign Het
Ddx60 G A 8: 62,432,372 (GRCm39) V885I probably damaging Het
Dlg1 C T 16: 31,573,626 (GRCm39) T9I probably benign Het
Dnase1 T C 16: 3,855,771 (GRCm39) probably benign Het
Drd4 T C 7: 140,873,690 (GRCm39) M114T probably damaging Het
Egfr A T 11: 16,858,949 (GRCm39) D976V probably damaging Het
Eif2s1 T A 12: 78,926,785 (GRCm39) N178K probably benign Het
Exoc3l4 A G 12: 111,395,155 (GRCm39) H591R probably benign Het
Galntl6 T C 8: 59,152,945 (GRCm39) probably benign Het
Glipr1l2 T A 10: 111,942,904 (GRCm39) I253K possibly damaging Het
Gnat1 A T 9: 107,554,433 (GRCm39) M115K probably benign Het
Gtsf2 T C 15: 103,352,755 (GRCm39) E88G possibly damaging Het
Hormad1 T A 3: 95,492,531 (GRCm39) probably null Het
Hydin A T 8: 111,217,305 (GRCm39) I1398F possibly damaging Het
Ifnar1 T C 16: 91,301,974 (GRCm39) V483A probably benign Het
Ints11 T C 4: 155,971,385 (GRCm39) F278L probably damaging Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Krt7 C T 15: 101,311,853 (GRCm39) R104C probably damaging Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mef2d T A 3: 88,075,404 (GRCm39) I422N probably damaging Het
Mipep G T 14: 61,022,231 (GRCm39) R32L probably damaging Het
Mon1a A G 9: 107,779,850 (GRCm39) E473G probably damaging Het
Mterf2 T A 10: 84,955,979 (GRCm39) Q215L probably damaging Het
Mybpc1 T A 10: 88,391,525 (GRCm39) Y324F probably benign Het
Myo1g A T 11: 6,465,976 (GRCm39) F370I probably damaging Het
Myo5c T A 9: 75,204,791 (GRCm39) M1548K possibly damaging Het
Myof T A 19: 37,924,300 (GRCm39) I1306F probably damaging Het
Nle1 A G 11: 82,799,018 (GRCm39) F21S probably damaging Het
Noc2l C G 4: 156,330,368 (GRCm39) D513E probably damaging Het
Or1e17 A T 11: 73,832,028 (GRCm39) I319F probably benign Het
Or2z2 A G 11: 58,346,733 (GRCm39) V14A probably benign Het
Orc1 T C 4: 108,471,670 (GRCm39) *841R probably null Het
Patz1 A G 11: 3,257,720 (GRCm39) D573G probably damaging Het
Pcdhga3 A G 18: 37,809,154 (GRCm39) T536A probably benign Het
Pde6h C T 6: 136,938,201 (GRCm39) T58I possibly damaging Het
Pip5k1a T C 3: 94,978,094 (GRCm39) I275V probably benign Het
Pkd1 T C 17: 24,805,042 (GRCm39) probably null Het
Polr1e G A 4: 45,029,429 (GRCm39) A297T probably damaging Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Rbm34 T C 8: 127,678,087 (GRCm39) D269G possibly damaging Het
Rnf122 T A 8: 31,602,177 (GRCm39) M1K probably null Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Ryr2 T C 13: 11,729,497 (GRCm39) E2375G possibly damaging Het
Ryr2 T C 13: 11,848,878 (GRCm39) T361A probably benign Het
Serpina3m T C 12: 104,355,360 (GRCm39) I9T probably benign Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Sf3b1 T C 1: 55,038,871 (GRCm39) N804S probably benign Het
Shroom1 A G 11: 53,355,999 (GRCm39) T350A probably benign Het
Slc24a5 G A 2: 124,910,188 (GRCm39) V30I probably benign Het
Slc38a8 A T 8: 120,209,423 (GRCm39) probably null Het
Smarcd1 A G 15: 99,605,862 (GRCm39) S378G possibly damaging Het
Stx1b T C 7: 127,407,093 (GRCm39) I55V probably damaging Het
Sult2a8 A G 7: 14,159,457 (GRCm39) V54A probably damaging Het
Tacc2 T C 7: 130,330,507 (GRCm39) S264P probably damaging Het
Tbc1d4 A T 14: 101,695,610 (GRCm39) Y943N probably damaging Het
Tlr5 T C 1: 182,801,038 (GRCm39) I114T probably benign Het
Tmco6 T C 18: 36,868,555 (GRCm39) probably null Het
Treh T C 9: 44,593,945 (GRCm39) L144P probably damaging Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Ttbk2 A T 2: 120,603,758 (GRCm39) F258L possibly damaging Het
Ttn T C 2: 76,785,380 (GRCm39) D665G probably damaging Het
Unc93b1 T C 19: 3,992,023 (GRCm39) probably null Het
Uroc1 T C 6: 90,322,376 (GRCm39) L300P probably damaging Het
Vps35l T C 7: 118,379,491 (GRCm39) I426T possibly damaging Het
Xbp1 A G 11: 5,471,125 (GRCm39) E44G probably damaging Het
Zfp451 A T 1: 33,816,942 (GRCm39) V119D probably damaging Het
Zfp457 T A 13: 67,441,342 (GRCm39) H315L probably damaging Het
Zfp518a T A 19: 40,904,295 (GRCm39) V1408D possibly damaging Het
Zfp52 T G 17: 21,780,665 (GRCm39) L171R probably benign Het
Zfp712 C T 13: 67,188,676 (GRCm39) C617Y probably damaging Het
Zfp770 T C 2: 114,027,868 (GRCm39) N67S probably benign 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
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'- CAGAATGAGCAGAGCCTTTGC -3'
(R):5'- TCAGTTGTTAGCTGAGGAGAAG -3'

Sequencing Primer
(F):5'- CTTTGCCCTAATGGAATAGAGGCTC -3'
(R):5'- GAACATCTCCTCCAAGTATGCGG -3'
Posted On 2016-04-27