Incidental Mutation 'R7938:Myh10'
ID 648885
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 045984-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7938 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 68582385-68707458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68583327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 8 (W8R)
Ref Sequence ENSEMBL: ENSMUSP00000090661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018887] [ENSMUST00000092984] [ENSMUST00000102611] [ENSMUST00000108673]
AlphaFold Q61879
Predicted Effect probably benign
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 unknown
Transcript: ENSMUST00000092984
AA Change: W8R
SMART Domains Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: W8R

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
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 probably benign
Transcript: ENSMUST00000108673
SMART Domains Protein: ENSMUSP00000104313
Gene: ENSMUSG00000020900

DomainStartEndE-ValueType
Pfam:Myosin_N 33 75 9.3e-17 PFAM
MYSc 79 231 2.25e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Bcam T G 7: 19,490,738 (GRCm39) E586D probably benign Het
Bmp7 A C 2: 172,721,283 (GRCm39) I264S probably benign Het
Casz1 G A 4: 149,028,943 (GRCm39) M1129I probably benign Het
Ccdc59 T A 10: 105,677,455 (GRCm39) N31K probably benign Het
Cfap61 A G 2: 145,887,376 (GRCm39) Y607C probably benign Het
Cnga1 T C 5: 72,761,597 (GRCm39) E639G probably benign Het
Coch T A 12: 51,643,366 (GRCm39) probably null Het
Col6a6 A C 9: 105,657,883 (GRCm39) Y776* probably null Het
Cyp1a1 T G 9: 57,609,073 (GRCm39) L318R probably damaging Het
Cyp3a16 T A 5: 145,389,666 (GRCm39) Y233F probably benign Het
Dgkz G T 2: 91,795,817 (GRCm39) R42S probably damaging Het
Dner A G 1: 84,673,218 (GRCm39) Y78H possibly damaging Het
Fat2 T C 11: 55,163,922 (GRCm39) N3111S probably damaging Het
Frmpd2 T C 14: 33,260,246 (GRCm39) S768P probably benign Het
Gm45861 T A 8: 28,071,990 (GRCm39) N1269K unknown Het
Gpr12 T A 5: 146,520,094 (GRCm39) Y276F possibly damaging Het
Hace1 C T 10: 45,562,792 (GRCm39) P769L probably benign Het
Hapln1 G A 13: 89,753,347 (GRCm39) R171H probably damaging Het
Hlx T G 1: 184,464,125 (GRCm39) T72P probably benign Het
Iqcm G T 8: 76,304,596 (GRCm39) C119F probably benign Het
Katna1 G T 10: 7,637,075 (GRCm39) A409S probably benign Het
Kcnip2 A T 19: 45,782,729 (GRCm39) I204N probably damaging Het
Kel G T 6: 41,675,310 (GRCm39) Q314K probably benign Het
Klf5 T C 14: 99,536,444 (GRCm39) V5A probably damaging Het
Lax1 A T 1: 133,607,896 (GRCm39) C282S probably benign Het
Lyar A G 5: 38,388,295 (GRCm39) T274A probably benign Het
Mboat1 A G 13: 30,415,959 (GRCm39) H306R possibly damaging Het
Morn5 A T 2: 35,947,082 (GRCm39) Y120F probably benign Het
Mrgprx2 T C 7: 48,132,240 (GRCm39) T193A probably benign Het
Nfasc A G 1: 132,533,269 (GRCm39) V644A probably damaging Het
Nup153 G T 13: 46,842,855 (GRCm39) probably null Het
Nup50l T C 6: 96,141,866 (GRCm39) K393E possibly damaging Het
Or1o4 T A 17: 37,590,991 (GRCm39) M107L probably benign Het
Or4x6 A T 2: 89,949,173 (GRCm39) Y256* probably null Het
Or5h19 A T 16: 58,856,325 (GRCm39) Y258* probably null Het
Orc4 A T 2: 48,800,203 (GRCm39) V315E possibly damaging Het
Pcsk5 T A 19: 17,443,549 (GRCm39) probably null Het
Pif1 A G 9: 65,502,073 (GRCm39) D635G probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ppfia2 A G 10: 106,310,648 (GRCm39) T52A probably damaging Het
Ppp1r36 A T 12: 76,485,180 (GRCm39) D301V probably damaging Het
Prss46 A G 9: 110,680,500 (GRCm39) N215S probably benign Het
Qser1 A C 2: 104,619,312 (GRCm39) V410G probably damaging Het
Reln A C 5: 22,155,870 (GRCm39) N2207K probably damaging Het
Rimkla A G 4: 119,327,810 (GRCm39) V180A probably benign Het
Rpa1 CA C 11: 75,198,050 (GRCm39) probably null Het
Rsph3a G T 17: 8,165,050 (GRCm39) E137* probably null Het
Spata31f1a A G 4: 42,850,765 (GRCm39) S464P possibly damaging Het
Sqle C A 15: 59,196,315 (GRCm39) H369Q probably damaging Het
Srebf2 T A 15: 82,057,016 (GRCm39) D250E probably damaging Het
Svs3b A T 2: 164,097,567 (GRCm39) C251* probably null Het
Tdrd9 A T 12: 111,997,649 (GRCm39) N713Y possibly damaging Het
Terf2ip T C 8: 112,738,717 (GRCm39) S202P possibly damaging Het
Trank1 A G 9: 111,194,096 (GRCm39) T707A probably benign Het
Trav8-1 T G 14: 53,707,688 (GRCm39) D109E possibly damaging Het
Trem2 T A 17: 48,658,777 (GRCm39) S181T probably benign Het
Trim37 A G 11: 87,037,863 (GRCm39) N199S probably benign Het
Tshz3 T C 7: 36,468,583 (GRCm39) F191L probably damaging Het
Ubxn8 A G 8: 34,111,712 (GRCm39) M227T probably damaging Het
Uggt2 T A 14: 119,296,519 (GRCm39) I448F possibly damaging Het
Usp47 T A 7: 111,687,132 (GRCm39) L697M probably damaging Het
Vmn2r52 T C 7: 9,893,300 (GRCm39) D613G probably benign Het
Wdr81 T C 11: 75,338,828 (GRCm39) T1444A probably benign Het
Zfp423 T C 8: 88,622,304 (GRCm39) Y11C unknown Het
Zw10 T A 9: 48,982,933 (GRCm39) D521E 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
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
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'- TGGAATTGAGACGCTGGATC -3'
(R):5'- CCGGGGAAATCTAACTCCAC -3'

Sequencing Primer
(F):5'- CTTCGGCTGAAGGTGAGAC -3'
(R):5'- GGGGAAATCTAACTCCACCTAAC -3'
Posted On 2020-09-15