Incidental Mutation 'IGL02502:Myh10'
ID 296133
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02502
Quality Score
Status
Chromosome 11
Chromosomal Location 68582385-68707458 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 68705198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018887] [ENSMUST00000092984] [ENSMUST00000102611]
AlphaFold Q61879
Predicted Effect probably null
Transcript: ENSMUST00000018887
SMART Domains Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900

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 null
Transcript: ENSMUST00000092984
SMART Domains Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900

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 null
Transcript: ENSMUST00000102611
SMART Domains Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900

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: ENSMUST00000124006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139059
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 127,917,804 (GRCm39) N216S probably damaging Het
Akap12 A G 10: 4,303,163 (GRCm39) D96G probably damaging Het
Akna A G 4: 63,286,440 (GRCm39) V1353A probably benign Het
Ambra1 A G 2: 91,730,877 (GRCm39) D914G probably damaging Het
Ap1s3 A G 1: 79,601,439 (GRCm39) V84A possibly damaging Het
Arhgef6 T C X: 56,325,623 (GRCm39) E282G probably damaging Het
C2cd2 G T 16: 97,677,590 (GRCm39) S378Y possibly damaging Het
Cd101 C A 3: 100,919,141 (GRCm39) A654S probably damaging Het
Cep295 A C 9: 15,262,209 (GRCm39) probably benign Het
Csn1s1 A G 5: 87,828,784 (GRCm39) I283V probably benign Het
Cst3 A G 2: 148,717,065 (GRCm39) probably benign Het
Cyp2b9 T C 7: 25,887,239 (GRCm39) probably null Het
Dffb A G 4: 154,050,073 (GRCm39) probably benign Het
Dnah10 A G 5: 124,898,351 (GRCm39) Y3711C probably damaging Het
Eif4g2 T C 7: 110,680,748 (GRCm39) S3G probably damaging Het
Erbb3 C T 10: 128,406,153 (GRCm39) R1088H probably benign Het
Evpl T C 11: 116,113,544 (GRCm39) D1382G probably damaging Het
Fam168a A G 7: 100,473,417 (GRCm39) D102G probably damaging Het
Fbxo7 A G 10: 85,869,161 (GRCm39) Y284C probably damaging Het
G6pd2 T C 5: 61,966,971 (GRCm39) Y249H probably damaging Het
Gm1123 A T 9: 98,891,443 (GRCm39) Y335* probably null Het
Gm5624 C T 14: 44,797,296 (GRCm39) probably null Het
Hectd1 A T 12: 51,844,635 (GRCm39) M536K possibly damaging Het
Ikbkg T A X: 73,487,433 (GRCm39) V334E probably benign Het
Ipo7 T C 7: 109,650,257 (GRCm39) L769P probably damaging Het
Jmjd1c A T 10: 67,061,640 (GRCm39) K1331I probably benign Het
Krt32 T C 11: 99,978,749 (GRCm39) K102E probably damaging Het
Lrrc34 A T 3: 30,699,394 (GRCm39) N20K probably benign Het
Lrrc47 A G 4: 154,100,471 (GRCm39) E349G probably benign Het
Mdn1 A G 4: 32,670,579 (GRCm39) I415V possibly damaging Het
Nbeal2 A G 9: 110,462,836 (GRCm39) S1376P probably damaging Het
Nfx1 T C 4: 40,976,345 (GRCm39) probably benign Het
Nherf4 G A 9: 44,160,948 (GRCm39) A206V probably benign Het
Notch3 A T 17: 32,377,252 (GRCm39) C246* probably null Het
Nr3c2 A G 8: 77,969,143 (GRCm39) Y976C probably damaging Het
Or51b17 A G 7: 103,542,696 (GRCm39) V82A probably damaging Het
Or52n4b T A 7: 108,143,846 (GRCm39) M36K probably damaging Het
Or5b122 A G 19: 13,563,112 (GRCm39) Y105C probably damaging Het
P2rx7 C T 5: 122,819,050 (GRCm39) R491C possibly damaging Het
Phex T A X: 155,966,823 (GRCm39) Y625F possibly damaging Het
Pkhd1 T C 1: 20,462,389 (GRCm39) D2055G probably damaging Het
Pmm2 T C 16: 8,463,227 (GRCm39) probably benign Het
Prdm15 T C 16: 97,640,539 (GRCm39) D16G probably damaging Het
Prune2 T A 19: 17,101,245 (GRCm39) C2250S probably benign Het
Rasgef1a T A 6: 118,057,443 (GRCm39) F48Y probably benign Het
Rhoq T C 17: 87,271,077 (GRCm39) V15A probably damaging Het
Rnf216 G A 5: 143,054,622 (GRCm39) A585V probably damaging Het
Septin9 T A 11: 117,181,488 (GRCm39) I96N probably damaging Het
Shprh T A 10: 11,070,101 (GRCm39) D1492E possibly damaging Het
Slc22a26 A T 19: 7,768,125 (GRCm39) probably null Het
Tek T G 4: 94,741,818 (GRCm39) probably null Het
Tenm3 T C 8: 48,741,051 (GRCm39) E782G probably damaging Het
Trmt5 A G 12: 73,328,001 (GRCm39) C401R probably benign Het
Tspear T G 10: 77,688,792 (GRCm39) probably benign Het
Ubr5 G A 15: 38,030,933 (GRCm39) T414I probably benign Het
Vcl A T 14: 21,069,453 (GRCm39) T710S probably damaging Het
Vmn2r25 A T 6: 123,816,392 (GRCm39) D396E probably damaging Het
Wtip A G 7: 33,818,094 (GRCm39) probably null Het
Zap70 A G 1: 36,817,887 (GRCm39) 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
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
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
Posted On 2015-04-16