Incidental Mutation 'R1898:Myh10'
ID 212143
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 039918-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1898 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 68582385-68707458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68662732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 595 (N595S)
Ref Sequence ENSEMBL: ENSMUSP00000099671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018887] [ENSMUST00000092984] [ENSMUST00000102611]
AlphaFold Q61879
Predicted Effect probably damaging
Transcript: ENSMUST00000018887
AA Change: N605S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: N605S

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: N632S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: N632S

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 damaging
Transcript: ENSMUST00000102611
AA Change: N595S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: N595S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155765
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.9%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C A 4: 53,071,977 (GRCm39) R1195L probably benign Het
Abca14 A G 7: 119,850,392 (GRCm39) Y748C probably damaging Het
Abca6 A G 11: 110,099,625 (GRCm39) F974S probably damaging Het
Acyp1 T C 12: 85,335,114 (GRCm39) K2E probably benign Het
Ahcy T A 2: 154,904,173 (GRCm39) S355C probably benign Het
AI182371 A G 2: 34,990,661 (GRCm39) V12A probably damaging Het
Ankrd36 T C 11: 5,525,683 (GRCm39) I215T probably benign Het
Aox1 C T 1: 58,117,601 (GRCm39) R828C probably damaging Het
Atp1a4 T A 1: 172,062,615 (GRCm39) I631F probably damaging Het
Brd10 T C 19: 29,712,532 (GRCm39) N789S possibly damaging Het
Brinp3 T G 1: 146,776,987 (GRCm39) V478G possibly damaging Het
Cadm2 G A 16: 66,612,271 (GRCm39) S106L probably damaging Het
Celf2 C T 2: 6,608,975 (GRCm39) V95M probably damaging Het
Chka A T 19: 3,942,205 (GRCm39) E404D probably damaging Het
Clec5a A C 6: 40,558,870 (GRCm39) V72G probably benign Het
Cnn1 T C 9: 22,012,560 (GRCm39) probably null Het
Coq6 A G 12: 84,413,737 (GRCm39) E89G probably benign Het
Cpne6 A T 14: 55,754,485 (GRCm39) I538F possibly damaging Het
Crx G A 7: 15,602,148 (GRCm39) P177S probably damaging Het
Cysltr2 G T 14: 73,266,973 (GRCm39) P246T probably damaging Het
Decr1 A G 4: 15,929,801 (GRCm39) I164T probably damaging Het
Dmtf1 A T 5: 9,178,091 (GRCm39) V315E probably damaging Het
Dnah7b A G 1: 46,275,874 (GRCm39) N2587S probably benign Het
E2f6 C A 12: 16,874,581 (GRCm39) T221K probably benign Het
Fat3 T G 9: 15,871,426 (GRCm39) D3655A probably damaging Het
Fbxw28 G A 9: 109,152,452 (GRCm39) T384I probably benign Het
Fes T A 7: 80,029,659 (GRCm39) I608F probably damaging Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Gabrb2 A G 11: 42,484,659 (GRCm39) K239E possibly damaging Het
Gen1 T C 12: 11,291,609 (GRCm39) R727G probably benign Het
Glb1 T A 9: 114,253,103 (GRCm39) V184E probably damaging Het
Gngt1 A T 6: 3,996,724 (GRCm39) I57F possibly damaging Het
Ice1 T C 13: 70,750,426 (GRCm39) I87V possibly damaging Het
Itih1 A G 14: 30,654,244 (GRCm39) Y674H probably benign Het
Itsn1 T A 16: 91,696,468 (GRCm39) C24S probably damaging Het
Loxl1 A G 9: 58,204,961 (GRCm39) V418A probably damaging Het
Myo5c C T 9: 75,204,908 (GRCm39) T1587I probably damaging Het
Npat T A 9: 53,474,937 (GRCm39) F910I probably damaging Het
Nradd T C 9: 110,450,676 (GRCm39) Y167C probably damaging Het
Nt5dc1 T C 10: 34,189,631 (GRCm39) E352G probably benign Het
Numa1 T C 7: 101,641,927 (GRCm39) probably null Het
Odc1 T A 12: 17,598,842 (GRCm39) S241T probably damaging Het
Or11g2 A T 14: 50,856,231 (GRCm39) D184V probably damaging Het
Or14j7 A T 17: 38,234,516 (GRCm39) N20Y possibly damaging Het
Pcnx3 T C 19: 5,722,615 (GRCm39) D951G probably damaging Het
Pigg T C 5: 108,484,408 (GRCm39) F685L probably benign Het
Pnpla7 T A 2: 24,943,796 (GRCm39) probably benign Het
Pramel16 C T 4: 143,677,298 (GRCm39) V94M probably damaging Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rp1l1 A T 14: 64,269,039 (GRCm39) T1542S probably benign Het
Sct A T 7: 140,858,761 (GRCm39) L57Q probably damaging Het
Serpinb3b T C 1: 107,082,317 (GRCm39) S316G possibly damaging Het
Shprh T C 10: 11,062,613 (GRCm39) L1240S probably damaging Het
Slc4a1 C T 11: 102,241,133 (GRCm39) E924K probably damaging Het
Sp7 A T 15: 102,267,453 (GRCm39) Y118N possibly damaging Het
Srebf2 A G 15: 82,087,936 (GRCm39) T219A probably damaging Het
Tenm3 G T 8: 48,763,796 (GRCm39) P753T probably damaging Het
Tonsl A T 15: 76,523,053 (GRCm39) probably null Het
Trio A T 15: 27,742,466 (GRCm39) S2675T possibly damaging Het
Tspan12 T C 6: 21,795,693 (GRCm39) T166A probably damaging Het
Ttll4 A G 1: 74,736,641 (GRCm39) D1122G probably benign Het
Vmn1r77 G A 7: 11,775,550 (GRCm39) A41T probably damaging Het
Xpo7 A T 14: 70,933,064 (GRCm39) F276Y probably benign Het
Zdhhc1 A T 8: 106,205,378 (GRCm39) probably null Het
Zfp319 C A 8: 96,055,417 (GRCm39) C262F probably damaging Het
Zfp442 C T 2: 150,250,582 (GRCm39) C383Y probably damaging Het
Zfp57 G T 17: 37,320,650 (GRCm39) R168L possibly damaging 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
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
R7256:Myh10 UTSW 11 68,681,515 (GRCm39) missense probably damaging 1.00
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'- CTGTGATAAGGCAACACTGACC -3'
(R):5'- CGTGCTCTAGGGAAAGATTTTAAAG -3'

Sequencing Primer
(F):5'- GCAACACTGACCATGTTTATTTATAC -3'
(R):5'- AACGTATGGATCTATACAAACACAC -3'
Posted On 2014-06-30