Incidental Mutation 'R7256:Myh10'
ID 564285
Institutional Source Beutler Lab
Gene Symbol Myh10
Ensembl Gene ENSMUSG00000020900
Gene Name myosin, heavy polypeptide 10, non-muscle
Synonyms 5730504C04Rik, Fltn, Fltn, myosin IIB, 9330167F11Rik, Myhn-2, Myosin IIB, Myhn2, SMemb, NMHC-B, nonmuscle myosin heavy chain II-B, NMHC II-B, nonmuscle myosin heavy chain IIB
MMRRC Submission 045317-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7256 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 68582385-68707458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 68681515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 1061 (N1061H)
Ref Sequence ENSEMBL: ENSMUSP00000090661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018887] [ENSMUST00000092984] [ENSMUST00000102611]
AlphaFold Q61879
Predicted Effect probably damaging
Transcript: ENSMUST00000018887
AA Change: N1055H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: N1055H

DomainStartEndE-ValueType
Pfam:Myosin_N 33 75 1.5e-15 PFAM
MYSc 79 815 N/A SMART
IQ 816 838 4.81e-4 SMART
low complexity region 932 946 N/A INTRINSIC
low complexity region 984 994 N/A INTRINSIC
low complexity region 1046 1058 N/A INTRINSIC
low complexity region 1070 1086 N/A INTRINSIC
Pfam:Myosin_tail_1 1104 1961 6.5e-211 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092984
AA Change: N1061H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: N1061H

DomainStartEndE-ValueType
Pfam:Myosin_N 70 110 2.5e-13 PFAM
MYSc 116 821 N/A SMART
IQ 822 844 4.81e-4 SMART
Pfam:Myosin_tail_1 885 1965 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102611
AA Change: N1024H

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: N1024H

DomainStartEndE-ValueType
Pfam:Myosin_N 33 75 1.4e-15 PFAM
MYSc 79 784 N/A SMART
IQ 785 807 4.81e-4 SMART
low complexity region 901 915 N/A INTRINSIC
low complexity region 953 963 N/A INTRINSIC
low complexity region 1015 1027 N/A INTRINSIC
low complexity region 1039 1055 N/A INTRINSIC
Pfam:Myosin_tail_1 1073 1930 6.2e-211 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Nullizygous mice show pre- and neonatal death, heart defects and hydrocephaly. Deletion of exon B1 disrupts migration of facial neurons, whereas deletion of exon B2 leads to Purkinje cell anomalies. Hypomorphs show hydrocephaly and defects in motor control, cerebellar foliation and neuron migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,659,923 (GRCm39) Y790H probably damaging Het
Bend3 A C 10: 43,369,667 (GRCm39) S7R probably benign Het
Ccdc106 A G 7: 5,063,325 (GRCm39) T277A probably damaging Het
Ccdc162 G A 10: 41,431,997 (GRCm39) A1832V probably damaging Het
Ccser1 A G 6: 61,288,851 (GRCm39) E338G probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cecr2 T C 6: 120,739,490 (GRCm39) S1406P probably benign Het
Cep290 A G 10: 100,382,360 (GRCm39) T208A probably damaging Het
Cep85l A C 10: 53,172,351 (GRCm39) C569W probably damaging Het
Ces5a G A 8: 94,226,154 (GRCm39) T527I probably benign Het
Clca3a2 T A 3: 144,796,608 (GRCm39) I200F probably damaging Het
Cmas G A 6: 142,716,312 (GRCm39) D251N probably damaging Het
Ctcfl G T 2: 172,960,268 (GRCm39) A105E probably benign Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dctn6 A T 8: 34,557,962 (GRCm39) I170N probably damaging Het
Dnah2 T C 11: 69,321,920 (GRCm39) Y3800C probably damaging Het
Dsg2 G A 18: 20,724,988 (GRCm39) V465I possibly damaging Het
Dzip1 T C 14: 119,123,058 (GRCm39) T646A probably benign Het
Etv4 T A 11: 101,675,151 (GRCm39) probably null Het
Exoc3l2 T C 7: 19,218,628 (GRCm39) V549A unknown Het
Ficd G T 5: 113,876,880 (GRCm39) A352S probably damaging Het
Fry T G 5: 150,390,251 (GRCm39) I179S Het
Galntl5 A G 5: 25,400,298 (GRCm39) H109R probably benign Het
Garem1 C A 18: 21,281,811 (GRCm39) G182W probably damaging Het
Gm5916 A T 9: 36,032,285 (GRCm39) Y50N possibly damaging Het
Gtf2h2 A T 13: 100,615,709 (GRCm39) F271I probably benign Het
Hivep2 G T 10: 14,004,845 (GRCm39) S481I probably benign Het
Homez T A 14: 55,094,877 (GRCm39) Q277L probably damaging Het
Hoxb4 C A 11: 96,210,722 (GRCm39) probably null Het
Igll1 A G 16: 16,678,957 (GRCm39) S118P probably damaging Het
Ikzf2 A C 1: 69,617,212 (GRCm39) probably null Het
Kif5b A G 18: 6,225,340 (GRCm39) V230A probably damaging Het
Ldlr T A 9: 21,657,040 (GRCm39) V719E probably benign Het
Lsm7 G A 10: 80,689,565 (GRCm39) R66W possibly damaging Het
Map3k13 T A 16: 21,710,988 (GRCm39) D90E probably benign Het
Mmrn1 A G 6: 60,953,098 (GRCm39) K460E probably damaging Het
Nepn A G 10: 52,277,089 (GRCm39) Q275R probably benign Het
Noc3l A T 19: 38,800,800 (GRCm39) D227E probably benign Het
Nploc4 G T 11: 120,319,376 (GRCm39) S61R probably benign Het
Nr4a2 T C 2: 57,002,381 (GRCm39) Y24C probably damaging Het
Nup160 T A 2: 90,553,699 (GRCm39) I1143N probably damaging Het
Or14a256 G T 7: 86,264,873 (GRCm39) H327N probably benign Het
Or4a15 A T 2: 89,192,838 (GRCm39) Y312N probably benign Het
Or8c17 T A 9: 38,180,004 (GRCm39) M57K probably damaging Het
Or8h7 A G 2: 86,720,956 (GRCm39) S188P probably damaging Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgap1 A T 1: 54,532,366 (GRCm39) probably null Het
Pitrm1 A G 13: 6,606,633 (GRCm39) H229R probably damaging Het
Plcl1 A G 1: 55,737,377 (GRCm39) Q906R probably benign Het
Ppfia3 T C 7: 44,991,167 (GRCm39) N1018S probably benign Het
Pramel24 T A 4: 143,452,849 (GRCm39) D93E probably benign Het
Prkd1 A G 12: 50,435,125 (GRCm39) V534A possibly damaging Het
Pygm A T 19: 6,435,926 (GRCm39) I126F probably benign Het
Rag1 T C 2: 101,472,415 (GRCm39) Y909C probably damaging Het
Rasgrf2 G A 13: 92,032,637 (GRCm39) Q560* probably null Het
Rbp3 A T 14: 33,684,540 (GRCm39) I1190F possibly damaging Het
Reln T C 5: 22,183,921 (GRCm39) K1693E probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rsph3a A G 17: 8,165,002 (GRCm39) T121A probably benign Het
Rufy3 A G 5: 88,762,806 (GRCm39) N112S possibly damaging Het
Ryr3 G A 2: 112,502,591 (GRCm39) Q3548* probably null Het
Sardh A T 2: 27,108,824 (GRCm39) V637D probably benign Het
Spata16 T C 3: 26,722,016 (GRCm39) V179A probably benign Het
Spopfm2 T C 3: 94,083,667 (GRCm39) E48G probably benign Het
Tbc1d30 G A 10: 121,124,870 (GRCm39) T319I probably damaging Het
Tlr2 T A 3: 83,744,913 (GRCm39) Q390L possibly damaging Het
Tmem53 C T 4: 117,109,237 (GRCm39) probably null Het
Vmn1r113 T A 7: 20,521,370 (GRCm39) I54N probably damaging Het
Vmn1r223 A C 13: 23,434,036 (GRCm39) Y210S probably damaging Het
Zbbx A T 3: 74,947,205 (GRCm39) H670Q probably benign Het
Other mutations in Myh10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Myh10 APN 11 68,681,534 (GRCm39) missense probably benign 0.10
IGL01132:Myh10 APN 11 68,659,094 (GRCm39) missense possibly damaging 0.93
IGL01348:Myh10 APN 11 68,702,629 (GRCm39) missense probably benign 0.04
IGL01404:Myh10 APN 11 68,642,866 (GRCm39) splice site probably null
IGL01409:Myh10 APN 11 68,698,045 (GRCm39) missense probably damaging 0.98
IGL01660:Myh10 APN 11 68,676,715 (GRCm39) missense probably benign 0.00
IGL02111:Myh10 APN 11 68,680,938 (GRCm39) missense probably damaging 1.00
IGL02481:Myh10 APN 11 68,692,994 (GRCm39) missense probably benign 0.00
IGL02483:Myh10 APN 11 68,692,994 (GRCm39) missense probably benign 0.00
IGL02502:Myh10 APN 11 68,705,198 (GRCm39) splice site probably null
IGL03178:Myh10 APN 11 68,590,239 (GRCm39) missense probably benign 0.19
algia UTSW 11 68,693,757 (GRCm39) missense probably damaging 1.00
itis UTSW 11 68,655,071 (GRCm39) missense probably damaging 0.96
PIT4802001:Myh10 UTSW 11 68,655,918 (GRCm39) missense probably damaging 1.00
R0066:Myh10 UTSW 11 68,590,317 (GRCm39) missense probably damaging 1.00
R0066:Myh10 UTSW 11 68,590,317 (GRCm39) missense probably damaging 1.00
R0517:Myh10 UTSW 11 68,702,425 (GRCm39) critical splice acceptor site probably null
R0855:Myh10 UTSW 11 68,702,627 (GRCm39) missense possibly damaging 0.88
R1110:Myh10 UTSW 11 68,682,676 (GRCm39) splice site probably benign
R1135:Myh10 UTSW 11 68,698,023 (GRCm39) missense probably benign
R1169:Myh10 UTSW 11 68,653,667 (GRCm39) missense probably damaging 0.99
R1643:Myh10 UTSW 11 68,682,836 (GRCm39) missense probably damaging 0.96
R1733:Myh10 UTSW 11 68,693,122 (GRCm39) missense probably benign 0.06
R1754:Myh10 UTSW 11 68,703,884 (GRCm39) missense probably damaging 0.98
R1859:Myh10 UTSW 11 68,636,239 (GRCm39) missense probably benign 0.03
R1898:Myh10 UTSW 11 68,662,732 (GRCm39) missense probably damaging 1.00
R1905:Myh10 UTSW 11 68,662,694 (GRCm39) splice site probably benign
R1914:Myh10 UTSW 11 68,681,034 (GRCm39) missense probably damaging 0.99
R1915:Myh10 UTSW 11 68,681,034 (GRCm39) missense probably damaging 0.99
R1987:Myh10 UTSW 11 68,705,322 (GRCm39) missense possibly damaging 0.56
R2130:Myh10 UTSW 11 68,698,115 (GRCm39) splice site probably benign
R2132:Myh10 UTSW 11 68,698,115 (GRCm39) splice site probably benign
R2136:Myh10 UTSW 11 68,695,540 (GRCm39) missense probably damaging 1.00
R2214:Myh10 UTSW 11 68,673,953 (GRCm39) missense probably damaging 1.00
R2351:Myh10 UTSW 11 68,683,965 (GRCm39) missense probably damaging 1.00
R3407:Myh10 UTSW 11 68,681,037 (GRCm39) missense possibly damaging 0.68
R3721:Myh10 UTSW 11 68,703,878 (GRCm39) missense probably damaging 0.99
R3908:Myh10 UTSW 11 68,661,885 (GRCm39) critical splice donor site probably null
R4275:Myh10 UTSW 11 68,642,766 (GRCm39) critical splice acceptor site probably null
R4526:Myh10 UTSW 11 68,705,875 (GRCm39) missense probably benign 0.04
R4666:Myh10 UTSW 11 68,692,556 (GRCm39) critical splice donor site probably null
R4668:Myh10 UTSW 11 68,695,468 (GRCm39) missense probably damaging 1.00
R4750:Myh10 UTSW 11 68,676,140 (GRCm39) missense probably damaging 1.00
R4968:Myh10 UTSW 11 68,684,049 (GRCm39) missense probably damaging 1.00
R4977:Myh10 UTSW 11 68,689,197 (GRCm39) missense possibly damaging 0.55
R5201:Myh10 UTSW 11 68,674,021 (GRCm39) missense probably damaging 1.00
R5288:Myh10 UTSW 11 68,692,434 (GRCm39) missense probably damaging 1.00
R5304:Myh10 UTSW 11 68,655,071 (GRCm39) missense probably damaging 0.96
R5366:Myh10 UTSW 11 68,651,518 (GRCm39) missense probably damaging 0.97
R5384:Myh10 UTSW 11 68,692,434 (GRCm39) missense probably damaging 1.00
R5427:Myh10 UTSW 11 68,693,757 (GRCm39) missense probably damaging 1.00
R5546:Myh10 UTSW 11 68,689,206 (GRCm39) missense possibly damaging 0.90
R5551:Myh10 UTSW 11 68,659,113 (GRCm39) missense possibly damaging 0.65
R5777:Myh10 UTSW 11 68,676,685 (GRCm39) missense probably damaging 1.00
R5995:Myh10 UTSW 11 68,705,809 (GRCm39) missense probably benign 0.01
R6021:Myh10 UTSW 11 68,699,688 (GRCm39) missense possibly damaging 0.72
R6171:Myh10 UTSW 11 68,682,716 (GRCm39) missense probably damaging 1.00
R6179:Myh10 UTSW 11 68,692,979 (GRCm39) missense probably damaging 0.98
R6263:Myh10 UTSW 11 68,701,058 (GRCm39) missense probably damaging 0.98
R6264:Myh10 UTSW 11 68,636,241 (GRCm39) missense probably benign 0.01
R6484:Myh10 UTSW 11 68,590,293 (GRCm39) missense probably damaging 1.00
R6575:Myh10 UTSW 11 68,699,676 (GRCm39) missense probably benign 0.00
R6736:Myh10 UTSW 11 68,636,165 (GRCm39) missense probably damaging 1.00
R7141:Myh10 UTSW 11 68,692,965 (GRCm39) missense probably benign
R7329:Myh10 UTSW 11 68,701,017 (GRCm39) missense probably benign 0.44
R7363:Myh10 UTSW 11 68,705,874 (GRCm39) missense probably benign
R7576:Myh10 UTSW 11 68,692,992 (GRCm39) missense probably damaging 1.00
R7577:Myh10 UTSW 11 68,636,806 (GRCm39) missense unknown
R7681:Myh10 UTSW 11 68,662,762 (GRCm39) missense probably damaging 0.98
R7813:Myh10 UTSW 11 68,676,735 (GRCm39) missense probably benign 0.00
R7834:Myh10 UTSW 11 68,676,652 (GRCm39) missense probably damaging 1.00
R7922:Myh10 UTSW 11 68,699,719 (GRCm39) missense possibly damaging 0.56
R7938:Myh10 UTSW 11 68,583,327 (GRCm39) missense unknown
R7958:Myh10 UTSW 11 68,612,173 (GRCm39) missense probably benign 0.00
R7994:Myh10 UTSW 11 68,681,070 (GRCm39) critical splice donor site probably null
R8395:Myh10 UTSW 11 68,682,842 (GRCm39) missense probably damaging 0.98
R8523:Myh10 UTSW 11 68,688,235 (GRCm39) missense probably benign 0.01
R8674:Myh10 UTSW 11 68,705,257 (GRCm39) missense probably damaging 0.98
R8816:Myh10 UTSW 11 68,693,778 (GRCm39) missense probably damaging 0.97
R8912:Myh10 UTSW 11 68,680,929 (GRCm39) critical splice acceptor site probably null
R9057:Myh10 UTSW 11 68,656,011 (GRCm39) missense possibly damaging 0.82
R9333:Myh10 UTSW 11 68,680,980 (GRCm39) missense probably benign 0.12
R9586:Myh10 UTSW 11 68,703,820 (GRCm39) missense possibly damaging 0.56
R9617:Myh10 UTSW 11 68,682,815 (GRCm39) missense probably benign 0.21
X0028:Myh10 UTSW 11 68,683,961 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGCCACTTGTAGTGCATCTG -3'
(R):5'- GGAACCCATCCGATTCCATTC -3'

Sequencing Primer
(F):5'- ACTGGCTACCCTGGGAACAC -3'
(R):5'- GATTCCATTCCACCCACCAG -3'
Posted On 2019-06-26