Incidental Mutation 'R1104:Myh11'
ID 98409
Institutional Source Beutler Lab
Gene Symbol Myh11
Ensembl Gene ENSMUSG00000018830
Gene Name myosin, heavy polypeptide 11, smooth muscle
Synonyms smMHC, SM1, SM2
MMRRC Submission 039177-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1104 (G1)
Quality Score 141
Status Validated
Chromosome 16
Chromosomal Location 14012392-14109227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14019991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1814 (S1814P)
Ref Sequence ENSEMBL: ENSMUSP00000087756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090287] [ENSMUST00000230397] [ENSMUST00000231567]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000090287
AA Change: S1814P

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087756
Gene: ENSMUSG00000018830
AA Change: S1814P

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 benign
Transcript: ENSMUST00000230397
AA Change: S1814P

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000231567
AA Change: S1821P

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.1084 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (70/71)
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
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930550C14Rik A G 9: 53,332,917 (GRCm39) I93V probably benign Het
Abcg5 A C 17: 84,989,477 (GRCm39) I77S possibly damaging Het
Adam3 T C 8: 25,171,545 (GRCm39) Y762C probably benign Het
Agap1 T C 1: 89,716,962 (GRCm39) S26P probably damaging Het
Ago1 T C 4: 126,347,426 (GRCm39) Y441C probably damaging Het
B3gnt3 A G 8: 72,146,481 (GRCm39) L16S possibly damaging Het
Btaf1 T A 19: 36,982,002 (GRCm39) D1677E probably damaging Het
Cd5l T A 3: 87,268,206 (GRCm39) S18T probably benign Het
Cdca2 T A 14: 67,931,131 (GRCm39) R521W probably damaging Het
Cfap61 C A 2: 145,792,981 (GRCm39) S64* probably null Het
Cryzl2 T A 1: 157,298,174 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dhrs1 T C 14: 55,981,162 (GRCm39) K83E probably benign Het
Dmrt2 T A 19: 25,655,980 (GRCm39) F526L probably benign Het
Dnajb14 T A 3: 137,614,115 (GRCm39) M342K possibly damaging Het
Dpf3 A G 12: 83,378,761 (GRCm39) V101A probably benign Het
Dthd1 A C 5: 62,979,302 (GRCm39) T321P probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Fras1 G A 5: 96,856,530 (GRCm39) R1971Q probably benign Het
Fry A G 5: 150,419,754 (GRCm39) N608S probably damaging Het
Gabrr3 T A 16: 59,281,998 (GRCm39) V451D probably damaging Het
Glg1 A G 8: 111,924,235 (GRCm39) L251P probably benign Het
Gli2 T A 1: 118,781,080 (GRCm39) S222C probably damaging Het
Gsr A G 8: 34,159,949 (GRCm39) E99G probably damaging Het
H1f5 T C 13: 21,964,451 (GRCm39) T92A possibly damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hus1b T C 13: 31,131,679 (GRCm39) probably benign Het
Igf1r T A 7: 67,844,774 (GRCm39) I849N possibly damaging Het
Itih5 A G 2: 10,256,323 (GRCm39) T930A probably benign Het
Ivns1abp T A 1: 151,235,860 (GRCm39) M309K probably benign Het
Kdm3b T A 18: 34,952,864 (GRCm39) F1078Y probably damaging Het
Krt12 C A 11: 99,312,792 (GRCm39) G84V unknown Het
Krt40 T G 11: 99,431,059 (GRCm39) E150A probably damaging Het
Lcn11 G T 2: 25,669,115 (GRCm39) probably benign Het
Lcor G T 19: 41,574,502 (GRCm39) G1086C probably damaging Het
Liph A G 16: 21,802,898 (GRCm39) I57T possibly damaging Het
Lrrc46 C T 11: 96,926,997 (GRCm39) V107M probably damaging Het
Ltb4r1 T C 14: 56,004,832 (GRCm39) I45T probably damaging Het
Mapkbp1 A G 2: 119,841,554 (GRCm39) probably benign Het
Mark3 C T 12: 111,584,831 (GRCm39) probably benign Het
Mug2 C T 6: 122,036,014 (GRCm39) A642V probably benign Het
Ndst1 T A 18: 60,830,218 (GRCm39) S631C probably damaging Het
Nrbf2 A T 10: 67,103,691 (GRCm39) D137E possibly damaging Het
Or2ag16 A T 7: 106,351,989 (GRCm39) M202K probably benign Het
Or51l4 A G 7: 103,404,183 (GRCm39) V203A probably benign Het
Or6c208 T A 10: 129,224,090 (GRCm39) M196K probably benign Het
Parn A G 16: 13,485,449 (GRCm39) Y16H probably damaging Het
Parp14 A G 16: 35,664,785 (GRCm39) probably benign Het
Prl3d1 C T 13: 27,283,992 (GRCm39) T187I probably benign Het
Ptgir G A 7: 16,641,055 (GRCm39) probably null Het
Rabgap1l C T 1: 160,059,445 (GRCm39) probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rnf213 T C 11: 119,368,055 (GRCm39) Y4697H probably benign Het
Rps6ka4 T A 19: 6,808,364 (GRCm39) I598F probably damaging Het
Ryr2 C T 13: 11,684,855 (GRCm39) V3029M probably damaging Het
Slc34a1 T C 13: 24,003,920 (GRCm39) F335S probably damaging Het
Spata6l T C 19: 28,945,032 (GRCm39) M1V probably null Het
Stau2 A T 1: 16,510,585 (GRCm39) Y124* probably null Het
Tbl3 A G 17: 24,920,580 (GRCm39) I652T probably benign Het
Trappc3 C T 4: 126,166,759 (GRCm39) probably benign Het
Trim60 A T 8: 65,454,071 (GRCm39) F59L probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a T C 1: 188,648,453 (GRCm39) F4686S probably benign Het
Vcan T C 13: 89,840,529 (GRCm39) T1672A probably damaging Het
Vmn1r215 T A 13: 23,260,758 (GRCm39) I266N possibly damaging Het
Vmn2r6 A T 3: 64,445,487 (GRCm39) V657E possibly damaging Het
Wdr95 G T 5: 149,529,802 (GRCm39) A548S probably benign Het
Zfp12 A G 5: 143,231,500 (GRCm39) Y609C probably damaging Het
Znfx1 C A 2: 166,897,560 (GRCm39) E455* 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
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
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'- GAGGACCGTCACCATTCTAACAGC -3'
(R):5'- GCAGAACAGAACAGGTTTCTGGCTC -3'

Sequencing Primer
(F):5'- CAGCACCTAACATTTTGAGGG -3'
(R):5'- GCTCAGTCTAGGTGACACAG -3'
Posted On 2014-01-05