Incidental Mutation 'R1733:Myh10'
ID 199502
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 039765-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1733 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 68582385-68707458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 68693122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1472 (D1472E)
Ref Sequence ENSEMBL: ENSMUSP00000090661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018887] [ENSMUST00000092984] [ENSMUST00000102611]
AlphaFold Q61879
Predicted Effect probably benign
Transcript: ENSMUST00000018887
AA Change: D1466E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: D1466E

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 benign
Transcript: ENSMUST00000092984
AA Change: D1472E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: D1472E

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: D1435E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: D1435E

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
Meta Mutation Damage Score 0.1191 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 91.9%
Validation Efficiency 95% (95/100)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T G 18: 59,165,001 (GRCm39) C1034W probably damaging Het
Agbl2 G T 2: 90,641,089 (GRCm39) K737N probably damaging Het
Aqp9 T A 9: 71,019,624 (GRCm39) I279F possibly damaging Het
Aspm T A 1: 139,384,855 (GRCm39) N166K probably benign Het
Atp13a3 A T 16: 30,176,084 (GRCm39) I186N probably benign Het
Btaf1 A T 19: 36,972,362 (GRCm39) I1366L probably benign Het
Camk4 A C 18: 33,211,074 (GRCm39) K60Q possibly damaging Het
Card11 G T 5: 140,892,388 (GRCm39) Q226K possibly damaging Het
Ccdc187 T C 2: 26,183,670 (GRCm39) D110G possibly damaging Het
Col5a2 C T 1: 45,446,192 (GRCm39) R462Q possibly damaging Het
Cp A T 3: 20,022,383 (GRCm39) probably benign Het
Cpz A T 5: 35,675,102 (GRCm39) V38E probably damaging Het
Cxcr6 G A 9: 123,639,181 (GRCm39) V68I probably damaging Het
Cyp2a22 C A 7: 26,634,187 (GRCm39) E322D possibly damaging Het
D130052B06Rik C T 11: 33,573,784 (GRCm39) T127I probably benign Het
Daam2 T A 17: 49,797,231 (GRCm39) M185L possibly damaging Het
Dnaja3 G A 16: 4,502,029 (GRCm39) R11K probably null Het
Dnttip2 T A 3: 122,070,397 (GRCm39) S537R probably benign Het
Dock9 G T 14: 121,864,292 (GRCm39) H572Q probably benign Het
Dpp4 T A 2: 62,203,213 (GRCm39) probably null Het
Enc1 T G 13: 97,381,550 (GRCm39) I20S possibly damaging Het
Ephb6 T A 6: 41,596,654 (GRCm39) H900Q probably benign Het
Ercc3 T C 18: 32,400,218 (GRCm39) V690A possibly damaging Het
Fam90a1a C T 8: 22,453,385 (GRCm39) Q247* probably null Het
Fkbp10 G A 11: 100,314,757 (GRCm39) R423H probably benign Het
Fus A G 7: 127,580,717 (GRCm39) M265V probably benign Het
Gas2l3 T A 10: 89,250,127 (GRCm39) K330N probably damaging Het
Gpam T G 19: 55,069,901 (GRCm39) L410F probably damaging Het
Gpr37l1 A T 1: 135,089,273 (GRCm39) V264E possibly damaging Het
Grk6 A T 13: 55,600,979 (GRCm39) probably benign Het
Gsto1 G T 19: 47,843,674 (GRCm39) V19F probably damaging Het
H1f7 G T 15: 98,154,016 (GRCm39) Q378K unknown Het
Hgfac G A 5: 35,201,018 (GRCm39) C194Y probably damaging Het
Hivep1 A G 13: 42,311,407 (GRCm39) N1216D probably damaging Het
Hrg C T 16: 22,769,997 (GRCm39) A42V probably damaging Het
Irx4 A G 13: 73,414,824 (GRCm39) D136G probably benign Het
Kcnn3 G T 3: 89,559,397 (GRCm39) V556L probably benign Het
Klk1b8 T C 7: 43,451,545 (GRCm39) Y179H possibly damaging Het
Klrb1f T A 6: 129,031,322 (GRCm39) L173* probably null Het
Kremen2 A T 17: 23,962,373 (GRCm39) probably null Het
Krt25 A T 11: 99,207,378 (GRCm39) Y400* probably null Het
Lingo4 A T 3: 94,310,485 (GRCm39) R474S probably benign Het
Lnpep T C 17: 17,773,575 (GRCm39) K599E probably benign Het
Mapk8ip3 A T 17: 25,155,824 (GRCm39) M2K possibly damaging Het
Mat2b A T 11: 40,570,904 (GRCm39) S307T probably benign Het
Mcph1 C A 8: 18,681,979 (GRCm39) A372D probably benign Het
Mfsd6 T A 1: 52,748,524 (GRCm39) I114F probably damaging Het
Mlkl A G 8: 112,049,380 (GRCm39) S248P probably damaging Het
Mmrn1 A T 6: 60,954,085 (GRCm39) T789S probably benign Het
Mphosph8 A G 14: 56,930,916 (GRCm39) Y735C probably damaging Het
Mrc1 T A 2: 14,261,910 (GRCm39) Y300N probably damaging Het
Mrps11 A G 7: 78,442,460 (GRCm39) H180R probably damaging Het
Msh4 T C 3: 153,573,404 (GRCm39) D556G probably damaging Het
Myo16 T C 8: 10,492,283 (GRCm39) S742P probably damaging Het
Nlrp5-ps C T 7: 14,316,978 (GRCm39) noncoding transcript Het
Nrp1 C T 8: 129,194,974 (GRCm39) P477S probably benign Het
Oplah G T 15: 76,186,683 (GRCm39) C665* probably null Het
Or4f14b T A 2: 111,775,625 (GRCm39) M59L probably benign Het
Or4f54 T C 2: 111,123,210 (GRCm39) V199A probably damaging Het
Or51b17 T C 7: 103,542,118 (GRCm39) S275G probably benign Het
Or8g22 G T 9: 38,958,678 (GRCm39) H57N unknown Het
Otogl T C 10: 107,619,573 (GRCm39) T1696A possibly damaging Het
Pdzrn4 A G 15: 92,299,855 (GRCm39) I242V probably benign Het
Phgdh G A 3: 98,235,451 (GRCm39) T141I probably benign Het
Pigv T C 4: 133,392,237 (GRCm39) Y311C probably damaging Het
Pik3c2a T G 7: 116,017,755 (GRCm39) M1L possibly damaging Het
Pitpnm1 A T 19: 4,159,960 (GRCm39) K760* probably null Het
Pnrc1 G A 4: 33,246,438 (GRCm39) H174Y probably damaging Het
Ptgis A G 2: 167,033,888 (GRCm39) probably benign Het
Ptpn4 T C 1: 119,643,773 (GRCm39) probably null Het
Rin3 T A 12: 102,335,589 (GRCm39) L420* probably null Het
Sacs T G 14: 61,442,903 (GRCm39) F1650V probably damaging Het
Sbno2 T A 10: 79,894,342 (GRCm39) N1081Y possibly damaging Het
Sema5b C T 16: 35,466,737 (GRCm39) P213L probably damaging Het
Sharpin T C 15: 76,232,136 (GRCm39) K240R probably benign Het
Skint6 T A 4: 113,034,234 (GRCm39) probably benign Het
Slc4a2 A G 5: 24,634,565 (GRCm39) E68G probably damaging Het
Srcin1 C T 11: 97,424,327 (GRCm39) V634I probably benign Het
Srsf10 T A 4: 135,590,476 (GRCm39) F134I possibly damaging Het
Stab1 C A 14: 30,867,260 (GRCm39) G1700V probably damaging Het
Sun1 T G 5: 139,216,544 (GRCm39) C290W possibly damaging Het
Svs6 T A 2: 164,159,577 (GRCm39) probably benign Het
Tmem8b G A 4: 43,690,228 (GRCm39) probably null Het
Usp49 A G 17: 47,983,238 (GRCm39) D81G probably damaging Het
Vmn1r215 T A 13: 23,260,848 (GRCm39) V296D probably benign Het
Vmn1r6 T A 6: 56,979,607 (GRCm39) S90T probably damaging Het
Wbp2 A G 11: 115,974,709 (GRCm39) F42L probably benign Het
Wdr20rt C T 12: 65,274,055 (GRCm39) T333I possibly damaging Het
Zfp341 C T 2: 154,483,298 (GRCm39) A552V probably benign Het
Zfp607b A T 7: 27,391,949 (GRCm39) H8L possibly damaging Het
Zfp758 G T 17: 22,594,830 (GRCm39) D439Y probably damaging Het
Zfp946 T C 17: 22,672,538 (GRCm39) Y46H probably damaging Het
Zic2 G A 14: 122,716,359 (GRCm39) E432K probably 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
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
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'- GACGAGTTGTTATCTGACCCTTGCC -3'
(R):5'- GAGACATTGTCAAGCCCGAGACTG -3'

Sequencing Primer
(F):5'- GCTGGCTGACACCAAGAAG -3'
(R):5'- GACTGCTCGTCCTAAGAACTCTG -3'
Posted On 2014-05-23