Incidental Mutation 'IGL02502:Myh10'
ID296133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myh10
Ensembl Gene ENSMUSG00000020900
Gene Namemyosin, heavy polypeptide 10, non-muscle
SynonymsMyosin IIB, Fltn, Fltn, Myhn-2, myosin IIB, nonmuscle myosin heavy chain II-B, NMHC-B, Myhn2, SMemb, NMHC II-B, 5730504C04Rik, nonmuscle myosin heavy chain IIB, 9330167F11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02502
Quality Score
Status
Chromosome11
Chromosomal Location68691559-68816632 bp(+) (GRCm38)
Type of Mutationunclassified (10 bp from exon)
DNA Base Change (assembly) A to G at 68814372 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018887] [ENSMUST00000092984] [ENSMUST00000102611]
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: 128,075,884 N216S probably damaging Het
Akap12 A G 10: 4,353,163 D96G probably damaging Het
Akna A G 4: 63,368,203 V1353A probably benign Het
Ambra1 A G 2: 91,900,532 D914G probably damaging Het
Ap1s3 A G 1: 79,623,722 V84A possibly damaging Het
Arhgef6 T C X: 57,280,263 E282G probably damaging Het
C2cd2 G T 16: 97,876,390 S378Y possibly damaging Het
Cd101 C A 3: 101,011,825 A658S probably damaging Het
Cep295 A C 9: 15,350,913 probably benign Het
Csn1s1 A G 5: 87,680,925 I302V probably benign Het
Cst3 A G 2: 148,875,145 probably benign Het
Cyp2b9 T C 7: 26,187,814 probably null Het
Dffb A G 4: 153,965,616 probably benign Het
Dnah10 A G 5: 124,821,287 Y3768C probably damaging Het
Eif4g2 T C 7: 111,081,541 S3G probably damaging Het
Erbb3 C T 10: 128,570,284 R1088H probably benign Het
Evpl T C 11: 116,222,718 D1382G probably damaging Het
Fam168a A G 7: 100,824,210 D102G probably damaging Het
Fbxo7 A G 10: 86,033,297 Y284C probably damaging Het
G6pd2 T C 5: 61,809,628 Y249H probably damaging Het
Gm1123 A T 9: 99,009,390 Y335* probably null Het
Gm5624 C T 14: 44,559,839 probably null Het
Hectd1 A T 12: 51,797,852 M536K possibly damaging Het
Ikbkg T A X: 74,443,827 V334E probably benign Het
Ipo7 T C 7: 110,051,050 L769P probably damaging Het
Jmjd1c A T 10: 67,225,861 K1331I probably benign Het
Krt32 T C 11: 100,087,923 K102E probably damaging Het
Lrrc34 A T 3: 30,645,245 N20K probably benign Het
Lrrc47 A G 4: 154,016,014 E349G probably benign Het
Mdn1 A G 4: 32,670,579 I415V possibly damaging Het
Nbeal2 A G 9: 110,633,768 S1410P probably damaging Het
Nfx1 T C 4: 40,976,345 probably benign Het
Notch3 A T 17: 32,158,278 C246* probably null Het
Nr3c2 A G 8: 77,242,514 Y976C probably damaging Het
Olfr1484 A G 19: 13,585,748 Y105C probably damaging Het
Olfr503 T A 7: 108,544,639 M38K probably damaging Het
Olfr64 A G 7: 103,893,489 V82A probably damaging Het
P2rx7 C T 5: 122,680,987 R491C possibly damaging Het
Pdzd3 G A 9: 44,249,651 A206V probably benign Het
Phex T A X: 157,183,827 Y625F possibly damaging Het
Pkhd1 T C 1: 20,392,165 D2055G probably damaging Het
Pmm2 T C 16: 8,645,363 probably benign Het
Prdm15 T C 16: 97,839,339 D16G probably damaging Het
Prune2 T A 19: 17,123,881 C2250S probably benign Het
Rasgef1a T A 6: 118,080,482 F48Y probably benign Het
Rhoq T C 17: 86,963,649 V15A probably damaging Het
Rnf216 G A 5: 143,068,867 A585V probably damaging Het
Sept9 T A 11: 117,290,662 I114N probably damaging Het
Shprh T A 10: 11,194,357 D1492E possibly damaging Het
Slc22a26 A T 19: 7,790,760 probably null Het
Tek T G 4: 94,853,581 probably null Het
Tenm3 T C 8: 48,288,016 E782G probably damaging Het
Trmt5 A G 12: 73,281,227 C401R probably benign Het
Tspear T G 10: 77,852,958 probably benign Het
Ubr5 G A 15: 38,030,689 T414I probably benign Het
Vcl A T 14: 21,019,385 T710S probably damaging Het
Vmn2r25 A T 6: 123,839,433 D396E probably damaging Het
Wtip A G 7: 34,118,669 probably null Het
Zap70 A G 1: 36,778,806 probably benign Het
Other mutations in Myh10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Myh10 APN 11 68790708 missense probably benign 0.10
IGL01132:Myh10 APN 11 68768268 missense possibly damaging 0.93
IGL01348:Myh10 APN 11 68811803 missense probably benign 0.04
IGL01404:Myh10 APN 11 68752040 unclassified probably null
IGL01409:Myh10 APN 11 68807219 missense probably damaging 0.98
IGL01660:Myh10 APN 11 68785889 missense probably benign 0.00
IGL02111:Myh10 APN 11 68790112 missense probably damaging 1.00
IGL02481:Myh10 APN 11 68802168 missense probably benign 0.00
IGL02483:Myh10 APN 11 68802168 missense probably benign 0.00
IGL03178:Myh10 APN 11 68699413 missense probably benign 0.19
R0066:Myh10 UTSW 11 68699491 missense probably damaging 1.00
R0066:Myh10 UTSW 11 68699491 missense probably damaging 1.00
R0517:Myh10 UTSW 11 68811599 critical splice acceptor site probably null
R0855:Myh10 UTSW 11 68811801 missense possibly damaging 0.88
R1110:Myh10 UTSW 11 68791850 splice site probably benign
R1135:Myh10 UTSW 11 68807197 missense probably benign
R1169:Myh10 UTSW 11 68762841 missense probably damaging 0.99
R1643:Myh10 UTSW 11 68792010 missense probably damaging 0.96
R1733:Myh10 UTSW 11 68802296 missense probably benign 0.06
R1754:Myh10 UTSW 11 68813058 missense probably damaging 0.98
R1859:Myh10 UTSW 11 68745413 missense probably benign 0.03
R1898:Myh10 UTSW 11 68771906 missense probably damaging 1.00
R1905:Myh10 UTSW 11 68771868 splice site probably benign
R1914:Myh10 UTSW 11 68790208 missense probably damaging 0.99
R1915:Myh10 UTSW 11 68790208 missense probably damaging 0.99
R1987:Myh10 UTSW 11 68814496 missense possibly damaging 0.56
R2130:Myh10 UTSW 11 68807289 splice site probably benign
R2132:Myh10 UTSW 11 68807289 splice site probably benign
R2136:Myh10 UTSW 11 68804714 missense probably damaging 1.00
R2214:Myh10 UTSW 11 68783127 missense probably damaging 1.00
R2351:Myh10 UTSW 11 68793139 missense probably damaging 1.00
R3407:Myh10 UTSW 11 68790211 missense possibly damaging 0.68
R3721:Myh10 UTSW 11 68813052 missense probably damaging 0.99
R3908:Myh10 UTSW 11 68771059 critical splice donor site probably null
R4275:Myh10 UTSW 11 68751940 critical splice acceptor site probably null
R4526:Myh10 UTSW 11 68815049 missense probably benign 0.04
R4666:Myh10 UTSW 11 68801730 critical splice donor site probably null
R4668:Myh10 UTSW 11 68804642 missense probably damaging 1.00
R4750:Myh10 UTSW 11 68785314 missense probably damaging 1.00
R4968:Myh10 UTSW 11 68793223 missense probably damaging 1.00
R4977:Myh10 UTSW 11 68798371 missense possibly damaging 0.55
R5201:Myh10 UTSW 11 68783195 missense probably damaging 1.00
R5288:Myh10 UTSW 11 68801608 missense probably damaging 1.00
R5304:Myh10 UTSW 11 68764245 missense probably damaging 0.96
R5366:Myh10 UTSW 11 68760692 missense probably damaging 0.97
R5384:Myh10 UTSW 11 68801608 missense probably damaging 1.00
R5427:Myh10 UTSW 11 68802931 missense probably damaging 1.00
R5546:Myh10 UTSW 11 68798380 missense possibly damaging 0.90
R5551:Myh10 UTSW 11 68768287 missense possibly damaging 0.65
R5777:Myh10 UTSW 11 68785859 missense probably damaging 1.00
R5995:Myh10 UTSW 11 68814983 missense probably benign 0.01
R6021:Myh10 UTSW 11 68808862 missense possibly damaging 0.72
R6171:Myh10 UTSW 11 68791890 missense probably damaging 1.00
R6179:Myh10 UTSW 11 68802153 missense probably damaging 0.98
R6263:Myh10 UTSW 11 68810232 missense probably damaging 0.98
R6264:Myh10 UTSW 11 68745415 missense probably benign 0.01
R6484:Myh10 UTSW 11 68699467 missense probably damaging 1.00
R6575:Myh10 UTSW 11 68808850 missense probably benign 0.00
R6736:Myh10 UTSW 11 68745339 missense probably damaging 1.00
X0028:Myh10 UTSW 11 68793135 missense probably damaging 1.00
Posted OnApr 16, 2015