Incidental Mutation 'R5546:Myh10'
ID 436300
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 043104-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5546 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 68582385-68707458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 68689206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 1261 (V1261G)
Ref Sequence ENSEMBL: ENSMUSP00000099671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018887] [ENSMUST00000092984] [ENSMUST00000102611]
AlphaFold Q61879
Predicted Effect possibly damaging
Transcript: ENSMUST00000018887
AA Change: V1292G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: V1292G

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 possibly damaging
Transcript: ENSMUST00000092984
AA Change: V1298G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: V1298G

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 possibly damaging
Transcript: ENSMUST00000102611
AA Change: V1261G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: V1261G

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 A G 9: 107,806,832 (GRCm39) N385S probably benign Het
Ahctf1 A T 1: 179,581,633 (GRCm39) I1523N probably benign Het
Akna C T 4: 63,313,196 (GRCm39) G309E probably benign Het
Akna T C 4: 63,313,803 (GRCm39) N107D probably benign Het
Arhgef15 G A 11: 68,844,877 (GRCm39) P240L probably benign Het
Brd1 T A 15: 88,585,325 (GRCm39) E836D probably benign Het
Brf2 A G 8: 27,614,311 (GRCm39) S292P possibly damaging Het
C3 A G 17: 57,529,976 (GRCm39) L500P probably damaging Het
Cblif T C 19: 11,725,859 (GRCm39) S50P possibly damaging Het
Ccdc107 T C 4: 43,495,685 (GRCm39) L196P probably damaging Het
Cdcp1 G T 9: 123,007,094 (GRCm39) P551Q probably damaging Het
Ckap5 T C 2: 91,425,161 (GRCm39) L1224P probably damaging Het
Csnk1g2 C A 10: 80,474,232 (GRCm39) T178K probably benign Het
Ctsq A T 13: 61,185,702 (GRCm39) C146* probably null Het
Cyp2ab1 T A 16: 20,132,507 (GRCm39) I264F probably damaging Het
Daxx TGATGATGACGATGATGACGATGATGA TGATGATGACGATGATGA 17: 34,131,615 (GRCm39) probably benign Het
Dnah11 G A 12: 117,939,583 (GRCm39) T3179M possibly damaging Het
Dnah7c A T 1: 46,705,477 (GRCm39) T2497S probably damaging Het
Eif4enif1 T C 11: 3,193,989 (GRCm39) V776A probably damaging Het
Erbb4 G T 1: 68,337,452 (GRCm39) T622N probably damaging Het
Erich6 A G 3: 58,526,218 (GRCm39) Y595H probably benign Het
Fam107a C T 14: 8,298,764 (GRCm38) A121T probably benign Het
Gpatch11 C T 17: 79,149,548 (GRCm39) Q183* probably null Het
Gpr161 C A 1: 165,133,982 (GRCm39) F81L possibly damaging Het
Hook1 G T 4: 95,890,765 (GRCm39) E291D probably benign Het
Hsf2bp T A 17: 32,165,669 (GRCm39) I309F probably damaging Het
Hspg2 T C 4: 137,275,485 (GRCm39) probably null Het
Ide T G 19: 37,249,623 (GRCm39) M910L unknown Het
Igdcc4 A G 9: 65,036,077 (GRCm39) Y712C probably damaging Het
Kmt2d T C 15: 98,750,949 (GRCm39) probably benign Het
Lats1 T C 10: 7,581,518 (GRCm39) Y768H probably damaging Het
Mageb3 A G 2: 121,784,868 (GRCm39) V278A probably damaging Het
Mapkbp1 G A 2: 119,849,724 (GRCm39) R732H probably damaging Het
Marveld2 T C 13: 100,737,446 (GRCm39) I148V probably benign Het
Mast1 G C 8: 85,642,889 (GRCm39) P969A probably damaging Het
Nlrp1b A T 11: 71,108,102 (GRCm39) H466Q probably benign Het
Npr2 T G 4: 43,650,150 (GRCm39) V905G probably damaging Het
Oip5 T A 2: 119,440,808 (GRCm39) I240F unknown Het
Or4c12 A G 2: 89,773,929 (GRCm39) C177R probably damaging Het
Or5k8 G T 16: 58,644,516 (GRCm39) Y185* probably null Het
Or8b12 T A 9: 37,657,820 (GRCm39) M130K probably benign Het
Pcsk2 G A 2: 143,388,480 (GRCm39) A24T probably benign Het
Plxnb1 G T 9: 108,929,818 (GRCm39) G225W probably damaging Het
Polr1a T C 6: 71,906,350 (GRCm39) S389P possibly damaging Het
Prkca A G 11: 107,944,806 (GRCm39) V175A probably benign Het
Rassf7 C A 7: 140,796,973 (GRCm39) probably null Het
Rbl2 A G 8: 91,805,560 (GRCm39) I206V probably benign Het
Rnf111 A T 9: 70,366,378 (GRCm39) H353Q probably benign Het
Rpn1 T G 6: 88,070,841 (GRCm39) V237G probably damaging Het
Sec61a2 T A 2: 5,881,351 (GRCm39) I267F possibly damaging Het
Spop G T 11: 95,376,669 (GRCm39) V241F probably damaging Het
Sptbn2 C T 19: 4,775,978 (GRCm39) A178V probably damaging Het
Stard13 A G 5: 150,969,366 (GRCm39) Y791H probably benign Het
Susd2 T A 10: 75,478,052 (GRCm39) I113L probably benign Het
Tcof1 T C 18: 60,964,628 (GRCm39) E666G possibly damaging Het
Tekt5 G T 16: 10,179,254 (GRCm39) A371E possibly damaging Het
Thap11 G A 8: 106,582,548 (GRCm39) E186K probably damaging Het
Tk2 A T 8: 104,974,315 (GRCm39) D45E possibly damaging Het
Tuba8 C A 6: 121,199,872 (GRCm39) Y185* probably null Het
Usp24 T A 4: 106,273,244 (GRCm39) Y2210N probably damaging Het
Wfdc8 A T 2: 164,439,239 (GRCm39) probably benign Het
Zar1l T C 5: 150,436,365 (GRCm39) N237S probably damaging Het
Zfp607b A T 7: 27,402,032 (GRCm39) T163S probably benign Het
Zfp619 C A 7: 39,184,577 (GRCm39) H202Q 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
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'- TGGAGTGTTGTGAGACAGCC -3'
(R):5'- TCACCGGTCTTATTCTTTAAAGGG -3'

Sequencing Primer
(F):5'- ACAGCCGCTGAGGAATTC -3'
(R):5'- AAGGGACTGTTTACCTTAAGTTTATC -3'
Posted On 2016-10-24