Incidental Mutation 'R6736:Myh10'
ID 528444
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 044854-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6736 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 68582385-68707458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68636165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 185 (T185A)
Ref Sequence ENSEMBL: ENSMUSP00000099671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018887] [ENSMUST00000092984] [ENSMUST00000102611] [ENSMUST00000108673]
AlphaFold Q61879
Predicted Effect probably damaging
Transcript: ENSMUST00000018887
AA Change: T185A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: T185A

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: T222A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: T222A

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: T185A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: T185A

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 damaging
Transcript: ENSMUST00000108673
AA Change: T185A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104313
Gene: ENSMUSG00000020900
AA Change: T185A

DomainStartEndE-ValueType
Pfam:Myosin_N 33 75 9.3e-17 PFAM
MYSc 79 231 2.25e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155765
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,211,100 (GRCm39) I83T probably benign Het
Aadacl4 T G 4: 144,349,909 (GRCm39) S389A possibly damaging Het
Abca13 A T 11: 9,415,058 (GRCm39) S4042C probably damaging Het
Acaca G A 11: 84,129,664 (GRCm39) V340I probably benign Het
Acox3 T A 5: 35,746,198 (GRCm39) probably null Het
Acsl6 A C 11: 54,215,992 (GRCm39) E124A probably damaging Het
Adamtsl1 T A 4: 86,260,484 (GRCm39) H898Q probably damaging Het
Agl A G 3: 116,575,329 (GRCm39) S603P probably damaging Het
Apobec1 A T 6: 122,558,634 (GRCm39) M31K probably null Het
Astn1 T C 1: 158,338,718 (GRCm39) probably null Het
Atp8a1 G T 5: 67,824,960 (GRCm39) D790E probably damaging Het
Bahd1 T G 2: 118,746,456 (GRCm39) M25R possibly damaging Het
BC034090 A T 1: 155,117,676 (GRCm39) N147K possibly damaging Het
Bfsp2 G T 9: 103,357,403 (GRCm39) A8E possibly damaging Het
Brwd1 A T 16: 95,869,772 (GRCm39) I85N probably damaging Het
Catspere2 T A 1: 177,845,278 (GRCm39) Y99* probably null Het
Ccdc24 T A 4: 117,727,732 (GRCm39) N145I possibly damaging Het
Cdhr5 G T 7: 140,852,444 (GRCm39) Q141K probably damaging Het
Cfap46 A G 7: 139,199,887 (GRCm39) V1998A possibly damaging Het
Csmd1 T A 8: 16,052,626 (GRCm39) Y2166F probably damaging Het
Cul4a T G 8: 13,186,219 (GRCm39) S474A probably benign Het
Cutal A G 2: 34,778,149 (GRCm39) T112A probably benign Het
Dcaf6 A C 1: 165,227,354 (GRCm39) S258A possibly damaging Het
Dek C T 13: 47,252,866 (GRCm39) V180M probably damaging Het
Dspp C A 5: 104,326,041 (GRCm39) D801E unknown Het
Egflam T C 15: 7,249,206 (GRCm39) T871A probably damaging Het
Erbin A T 13: 103,971,274 (GRCm39) S781T possibly damaging Het
Erich6 A T 3: 58,532,475 (GRCm39) H377Q probably damaging Het
Exo5 C A 4: 120,778,953 (GRCm39) G304V probably damaging Het
Eya2 C A 2: 165,557,957 (GRCm39) S184R possibly damaging Het
Fhod1 G A 8: 106,064,522 (GRCm39) probably benign Het
G6pc3 A G 11: 102,084,496 (GRCm39) Y302C possibly damaging Het
Gart T C 16: 91,432,995 (GRCm39) D318G probably benign Het
Gm10300 T C 4: 131,802,246 (GRCm39) probably benign Het
Gm11937 A G 11: 99,500,900 (GRCm39) V39A probably damaging Het
Gnas T C 2: 174,176,044 (GRCm39) M60T probably damaging Het
Grk5 G T 19: 60,879,064 (GRCm39) R16L probably damaging Het
Hcn3 A G 3: 89,059,981 (GRCm39) L221P probably damaging Het
Hddc3 G A 7: 79,992,944 (GRCm39) R20Q possibly damaging Het
Hectd4 T C 5: 121,415,788 (GRCm39) Y530H possibly damaging Het
Igf2bp1 A T 11: 95,863,948 (GRCm39) H247Q probably benign Het
Igkv4-70 T A 6: 69,244,912 (GRCm39) D103V probably damaging Het
Itpr2 T A 6: 146,226,668 (GRCm39) M1359L probably damaging Het
Kalrn A G 16: 34,038,293 (GRCm39) L1013S probably damaging Het
Kctd21 C T 7: 96,997,291 (GRCm39) R255W probably damaging Het
Krt18 T A 15: 101,939,204 (GRCm39) Y263N probably benign Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Larp1 G A 11: 57,933,473 (GRCm39) probably null Het
Lmnb1 A G 18: 56,861,541 (GRCm39) N144S probably damaging Het
Lrp2 T A 2: 69,278,555 (GRCm39) T3933S probably benign Het
Lrrc34 T C 3: 30,679,008 (GRCm39) N363S probably benign Het
Lrriq1 T C 10: 103,017,750 (GRCm39) probably null Het
Mafa C A 15: 75,619,629 (GRCm39) G48V unknown Het
Mboat4 T C 8: 34,591,675 (GRCm39) S371P possibly damaging Het
Mei4 A T 9: 81,907,677 (GRCm39) M237L probably benign Het
Mfsd2a T C 4: 122,845,054 (GRCm39) D219G probably benign Het
Msl2 A G 9: 100,978,201 (GRCm39) N192D probably damaging Het
Mycbp2 C A 14: 103,429,003 (GRCm39) R2358M probably null Het
Nipsnap2 T C 5: 129,822,352 (GRCm39) probably null Het
Notch1 T C 2: 26,350,298 (GRCm39) T2281A probably benign Het
Odad2 C A 18: 7,223,586 (GRCm39) V486F probably damaging Het
Or12j4 T C 7: 140,046,800 (GRCm39) S229P probably damaging Het
Or12j4 G T 7: 140,046,834 (GRCm39) C240F probably damaging Het
Or1e1c G T 11: 73,266,402 (GRCm39) V276F probably benign Het
Or4q3 A T 14: 50,582,905 (GRCm39) N300K probably damaging Het
Or5an10 G A 19: 12,275,936 (GRCm39) Q187* probably null Het
Or5d20-ps1 C A 2: 87,931,947 (GRCm39) C128F probably benign Het
Or8c17 T A 9: 38,179,866 (GRCm39) I19N probably damaging Het
Or8g30 A G 9: 39,230,089 (GRCm39) S274P probably damaging Het
Oxct1 T A 15: 4,121,899 (GRCm39) S283T probably benign Het
Pcnx2 G T 8: 126,479,056 (GRCm39) probably null Het
Piwil4 A G 9: 14,627,119 (GRCm39) F424L probably benign Het
Pkhd1l1 T C 15: 44,421,336 (GRCm39) S3035P probably damaging Het
Psmc2 T A 5: 22,005,574 (GRCm39) D218E probably damaging Het
Ptpn7 C T 1: 135,066,974 (GRCm39) P277L probably benign Het
Rgs12 A G 5: 35,180,436 (GRCm39) K27E probably damaging Het
Rp1l1 G T 14: 64,267,173 (GRCm39) A920S possibly damaging Het
Rsbn1l A T 5: 21,113,222 (GRCm39) H433Q probably benign Het
Safb C A 17: 56,913,023 (GRCm39) P913Q possibly damaging Het
Sema7a G A 9: 57,867,854 (GRCm39) V477M probably damaging Het
Serpina16 T A 12: 103,635,191 (GRCm39) T408S possibly damaging Het
Six5 G A 7: 18,828,916 (GRCm39) V119M possibly damaging Het
Slc6a16 C T 7: 44,908,452 (GRCm39) P11S possibly damaging Het
Smg1 A G 7: 117,756,389 (GRCm39) probably benign Het
Sntg1 T A 1: 8,515,274 (GRCm39) I420F probably benign Het
Sptb T C 12: 76,659,954 (GRCm39) D982G possibly damaging Het
Stag3 T A 5: 138,299,761 (GRCm39) F891I probably damaging Het
Sugp1 A G 8: 70,511,953 (GRCm39) E183G probably benign Het
Taf1d T C 9: 15,219,119 (GRCm39) probably null Het
Tapbp T C 17: 34,138,931 (GRCm39) S33P possibly damaging Het
Ubap2 CT CTTGCCCCGGT 4: 41,227,224 (GRCm39) probably benign Het
Ubap2 GCCCGCTTGCCCCGCT GCCCGCTTGCCCCGCTTGCCCCGCT 4: 41,227,210 (GRCm39) probably benign Het
Ubash3a A G 17: 31,450,389 (GRCm39) T355A probably benign Het
Usp16 T G 16: 87,267,285 (GRCm39) V225G probably damaging Het
Utrn A G 10: 12,497,047 (GRCm39) V2454A probably benign Het
Vmn1r191 G T 13: 22,363,720 (GRCm39) F11L probably benign Het
Vmn2r117 A T 17: 23,697,282 (GRCm39) C137S probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp143 T C 7: 109,691,021 (GRCm39) M524T probably damaging Het
Zfp599 A G 9: 22,161,140 (GRCm39) C342R probably damaging Het
Zfp777 T G 6: 48,001,790 (GRCm39) K811Q probably damaging Het
Zfp870 T A 17: 33,102,570 (GRCm39) H254L 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
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'- GTGGTTCAGTGGTGATAACAAG -3'
(R):5'- TGCCTGGCTCTTCCTGAATG -3'

Sequencing Primer
(F):5'- CAGTGGTGATAACAAGGTTTCTAAG -3'
(R):5'- AGGAGCTGCTTGCCAGAG -3'
Posted On 2018-07-24