Incidental Mutation 'R2351:Myh10'
ID 246149
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 040333-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2351 (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 68683965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1126 (D1126G)
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: D1157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: D1157G

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: D1163G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: D1163G

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: D1126G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: D1126G

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: ENSMUST00000145408
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,779,846 (GRCm39) Y135* probably null Het
Aadacl4fm1 A T 4: 144,255,348 (GRCm39) Y256F probably damaging Het
Acad10 A T 5: 121,767,990 (GRCm39) I820K probably benign Het
Arl8b A T 6: 108,798,484 (GRCm39) I178F possibly damaging Het
Asap1 A T 15: 64,007,653 (GRCm39) probably null Het
Atp2b2 A T 6: 113,766,718 (GRCm39) I552N possibly damaging Het
C130074G19Rik G T 1: 184,615,060 (GRCm39) D43E probably benign Het
Ccdc162 C A 10: 41,431,968 (GRCm39) probably null Het
Ccdc186 T G 19: 56,787,129 (GRCm39) K613T possibly damaging Het
Cggbp1 T A 16: 64,676,046 (GRCm39) D37E possibly damaging Het
Cntn3 A T 6: 102,314,344 (GRCm39) N123K possibly damaging Het
Col18a1 C T 10: 76,948,538 (GRCm39) G325S probably benign Het
Cwc25 G T 11: 97,638,218 (GRCm39) T405K probably damaging Het
Cyp4a31 T C 4: 115,428,510 (GRCm39) V370A possibly damaging Het
Cyp4f13 T G 17: 33,144,570 (GRCm39) I309L probably benign Het
Dap3 A T 3: 88,840,870 (GRCm39) probably null Het
Dchs1 G T 7: 105,403,301 (GRCm39) D3080E probably benign Het
Ern2 A G 7: 121,770,731 (GRCm39) V762A probably damaging Het
Fgr C T 4: 132,724,548 (GRCm39) R255C probably damaging Het
Gcm2 A T 13: 41,257,094 (GRCm39) D218E probably benign Het
Gfi1 A G 5: 107,869,640 (GRCm39) S131P probably damaging Het
Grm8 A T 6: 28,126,118 (GRCm39) C3S possibly damaging Het
Gucy2d A G 7: 98,113,226 (GRCm39) D840G probably benign Het
H3f3a T C 1: 180,637,723 (GRCm39) T81A probably benign Het
Igsf23 C T 7: 19,678,723 (GRCm39) W22* probably null Het
Il12rb2 G A 6: 67,338,928 (GRCm39) Q3* probably null Het
Ino80d A T 1: 63,124,994 (GRCm39) L156H probably benign Het
Kdm2a G A 19: 4,379,154 (GRCm39) P554S probably benign Het
Lefty1 T A 1: 180,764,807 (GRCm39) L244H possibly damaging Het
Mdn1 T A 4: 32,750,010 (GRCm39) S4398T probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myom1 A T 17: 71,341,574 (GRCm39) D111V probably damaging Het
Naip6 T A 13: 100,420,169 (GRCm39) D1367V probably damaging Het
Nbeal1 A T 1: 60,276,257 (GRCm39) H666L possibly damaging Het
Nsmaf T A 4: 6,437,921 (GRCm39) I77F probably damaging Het
Nvl T C 1: 180,958,357 (GRCm39) T231A probably benign Het
Obscn T C 11: 59,003,438 (GRCm39) R1287G probably damaging Het
Opn3 T C 1: 175,520,077 (GRCm39) D9G probably benign Het
Or4a81 T C 2: 89,619,522 (GRCm39) Y58C probably damaging Het
Or4c114 C T 2: 88,904,743 (GRCm39) G231S possibly damaging Het
Or6a2 A T 7: 106,600,883 (GRCm39) Y61* probably null Het
Or6c8b A G 10: 128,882,797 (GRCm39) V45A probably benign Het
Or6k2 T A 1: 173,986,486 (GRCm39) V49D probably damaging Het
Or8k24 C T 2: 86,216,471 (GRCm39) C97Y probably damaging Het
Parp10 A T 15: 76,127,056 (GRCm39) S101R probably benign Het
Pdhx T A 2: 102,854,562 (GRCm39) K399* probably null Het
Pdia4 A T 6: 47,773,848 (GRCm39) probably null Het
Pla2g4f T C 2: 120,130,923 (GRCm39) D844G probably benign Het
Prtg C A 9: 72,764,106 (GRCm39) D526E probably damaging Het
Rassf6 T C 5: 90,779,418 (GRCm39) D5G probably benign Het
Riok3 C T 18: 12,282,724 (GRCm39) Q388* probably null Het
Robo4 T A 9: 37,322,956 (GRCm39) F825L probably benign Het
Rpl13a-ps1 C T 19: 50,018,868 (GRCm39) E103K probably benign Het
Rpl18a A T 8: 71,348,864 (GRCm39) H37Q probably benign Het
Ryr1 A T 7: 28,774,718 (GRCm39) S2301T probably benign Het
Slc39a9 T A 12: 80,691,660 (GRCm39) D2E possibly damaging Het
Slco5a1 C T 1: 13,060,158 (GRCm39) V188I probably benign Het
Son T A 16: 91,454,547 (GRCm39) M1098K probably damaging Het
Spag9 A G 11: 93,983,726 (GRCm39) D701G probably damaging Het
Ssmem1 T C 6: 30,512,495 (GRCm39) F46S possibly damaging Het
Sspo C T 6: 48,441,803 (GRCm39) R1938W probably damaging Het
Sstr3 T C 15: 78,424,121 (GRCm39) I209V probably benign Het
Tlk2 A G 11: 105,100,656 (GRCm39) Y87C probably damaging Het
Traf4 G A 11: 78,051,002 (GRCm39) R385W probably damaging Het
Triobp G A 15: 78,888,780 (GRCm39) V1962M probably benign Het
Tspan12 T G 6: 21,835,506 (GRCm39) I56L probably benign Het
Upp2 T A 2: 58,653,674 (GRCm39) probably null Het
Vps13b T C 15: 35,869,457 (GRCm39) W2654R probably damaging Het
Zc3h18 C T 8: 123,129,926 (GRCm39) R435* probably null Het
Zfta T C 19: 7,399,609 (GRCm39) I247T 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
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
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'- GGTCATTTACCTGGGAACCC -3'
(R):5'- GCTATTGATTGGAATGGCATCC -3'

Sequencing Primer
(F):5'- TGCACCCAACAGCCCCAG -3'
(R):5'- TGGAATGGCATCCAGTATGG -3'
Posted On 2014-10-30