Incidental Mutation 'R4668:Myh10'
ID 352182
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4668 (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 68695468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1532 (K1532E)
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: K1563E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018887
Gene: ENSMUSG00000020900
AA Change: K1563E

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: K1569E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090661
Gene: ENSMUSG00000020900
AA Change: K1569E

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: K1532E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099671
Gene: ENSMUSG00000020900
AA Change: K1532E

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik A T 9: 114,133,779 (GRCm39) noncoding transcript Het
6430548M08Rik T C 8: 120,887,153 (GRCm39) probably null Het
Abca4 G A 3: 121,948,948 (GRCm39) G531E possibly damaging Het
Acad8 A G 9: 26,901,923 (GRCm39) L147P probably damaging Het
Acot10 T C 15: 20,666,028 (GRCm39) S238G probably benign Het
Adamtsl2 A T 2: 26,985,487 (GRCm39) H457L probably benign Het
Ankrd35 A T 3: 96,586,524 (GRCm39) T67S probably damaging Het
Aox1 T G 1: 58,373,853 (GRCm39) I838S possibly damaging Het
Arnt2 T C 7: 83,924,594 (GRCm39) N411S probably damaging Het
Bmpr2 T C 1: 59,906,875 (GRCm39) L656S probably damaging Het
Carns1 A T 19: 4,215,475 (GRCm39) Y902* probably null Het
Cavin1 T C 11: 100,849,622 (GRCm39) E336G probably damaging Het
Cbl A T 9: 44,065,145 (GRCm39) C728S probably benign Het
Ccdc136 C A 6: 29,411,280 (GRCm39) Q218K probably damaging Het
Cdk19 C A 10: 40,342,706 (GRCm39) T196K probably damaging Het
Ceacam20 T C 7: 19,719,952 (GRCm39) Y495H probably damaging Het
Celf2 T C 2: 6,726,339 (GRCm39) I47V probably benign Het
Ces3a A C 8: 105,780,055 (GRCm39) K299T probably damaging Het
Cfap61 A T 2: 145,985,056 (GRCm39) I967F probably damaging Het
Cnksr1 C T 4: 133,960,282 (GRCm39) probably benign Het
Cped1 T C 6: 22,237,652 (GRCm39) Y923H probably benign Het
Crip3 T C 17: 46,740,290 (GRCm39) L30P probably damaging Het
Csmd1 A G 8: 16,073,905 (GRCm39) I2030T possibly damaging Het
Ctse C A 1: 131,590,487 (GRCm39) P70T probably damaging Het
Cyp2b23 A G 7: 26,372,159 (GRCm39) F429L probably damaging Het
Cyp2c66 T A 19: 39,165,100 (GRCm39) D360E probably damaging Het
D8Ertd738e A T 8: 84,976,110 (GRCm39) L46* probably null Het
Dcp2 T A 18: 44,548,429 (GRCm39) probably null Het
Ddx10 C A 9: 53,010,513 (GRCm39) D834Y possibly damaging Het
Ddx19a A T 8: 111,705,716 (GRCm39) V245E probably damaging Het
Dpf2 A C 19: 5,954,515 (GRCm39) D130E probably benign Het
Emc8 A T 8: 121,394,518 (GRCm39) M67K probably damaging Het
Ephb6 T C 6: 41,591,536 (GRCm39) L231P possibly damaging Het
Erp27 T C 6: 136,885,150 (GRCm39) E216G possibly damaging Het
Esco1 A T 18: 10,594,734 (GRCm39) I184N possibly damaging Het
Fdxacb1 T A 9: 50,681,560 (GRCm39) D11E possibly damaging Het
Fhod3 C T 18: 25,199,395 (GRCm39) P689S probably benign Het
Fnip1 T A 11: 54,394,385 (GRCm39) S940R probably damaging Het
Ganc G T 2: 120,261,548 (GRCm39) V343F probably benign Het
Gldn T A 9: 54,239,302 (GRCm39) L228* probably null Het
Gm1123 C T 9: 98,891,426 (GRCm39) R341H probably damaging Het
Gtf2f2 T C 14: 76,155,078 (GRCm39) Y161C probably benign Het
Gtf3c1 T C 7: 125,266,510 (GRCm39) T979A probably damaging Het
H4c1 A G 13: 23,944,959 (GRCm39) V61A probably benign Het
Hmcn2 G T 2: 31,325,804 (GRCm39) R4277L probably benign Het
Hsd17b6 T A 10: 127,830,295 (GRCm39) probably null Het
Igkv12-46 T C 6: 69,741,781 (GRCm39) T25A probably damaging Het
Inpp5e G A 2: 26,291,006 (GRCm39) R354C probably damaging Het
Jcad T A 18: 4,680,221 (GRCm39) probably null Het
Kcna10 G T 3: 107,102,010 (GRCm39) A214S possibly damaging Het
Kit T C 5: 75,801,880 (GRCm39) probably null Het
Kmt2a G A 9: 44,735,869 (GRCm39) probably benign Het
Lama1 T C 17: 68,059,429 (GRCm39) V604A probably benign Het
Mesd T C 7: 83,544,964 (GRCm39) V138A probably damaging Het
Mmp13 T C 9: 7,272,580 (GRCm39) F9S possibly damaging Het
Mocos T C 18: 24,799,491 (GRCm39) Y242H probably benign Het
Mrc1 A C 2: 14,298,297 (GRCm39) T718P probably damaging Het
Msh6 T C 17: 88,292,234 (GRCm39) S330P possibly damaging Het
Nat9 T C 11: 115,075,368 (GRCm39) N91S probably damaging Het
Neto2 A T 8: 86,367,691 (GRCm39) I351N probably damaging Het
Nfx1 A G 4: 40,976,367 (GRCm39) N14D possibly damaging Het
Nlrp4b A G 7: 10,448,660 (GRCm39) T288A possibly damaging Het
Nutm2 C A 13: 50,627,033 (GRCm39) T396K probably benign Het
Ogdhl A G 14: 32,054,493 (GRCm39) T196A probably benign Het
Omg T A 11: 79,393,249 (GRCm39) N203I probably damaging Het
Or52b4i A G 7: 102,191,811 (GRCm39) I223V possibly damaging Het
Or52r1b A T 7: 102,691,058 (GRCm39) D119V probably benign Het
Or5b101 A T 19: 13,005,445 (GRCm39) F83I probably benign Het
Pdgfrb A G 18: 61,197,185 (GRCm39) Y207C probably damaging Het
Pdzd7 T A 19: 45,034,126 (GRCm39) probably benign Het
Pgs1 C A 11: 117,894,333 (GRCm39) H157N probably damaging Het
Pik3c2a A G 7: 115,957,923 (GRCm39) V1121A probably benign Het
Pikfyve T A 1: 65,289,432 (GRCm39) C1235S probably damaging Het
Pms1 G A 1: 53,228,633 (GRCm39) Q872* probably null Het
Ptgs2 A G 1: 149,976,835 (GRCm39) T23A probably benign Het
Rgl1 T G 1: 152,397,122 (GRCm39) R716S probably damaging Het
Rif1 A G 2: 52,001,964 (GRCm39) E1806G probably benign Het
Ripor1 T C 8: 106,341,284 (GRCm39) V39A probably benign Het
Ryr2 G T 13: 11,608,003 (GRCm39) T868N probably benign Het
Sec22b A T 3: 97,828,438 (GRCm39) D167V probably damaging Het
Sec24d T C 3: 123,149,423 (GRCm39) V810A probably damaging Het
Shh T C 5: 28,662,853 (GRCm39) *438W probably null Het
Slc25a12 G A 2: 71,145,406 (GRCm39) S178L probably benign Het
Sorl1 A T 9: 41,895,804 (GRCm39) W1784R probably damaging Het
Sp3 A T 2: 72,801,325 (GRCm39) S229R probably damaging Het
Spata31f3 A G 4: 42,871,608 (GRCm39) F256L probably benign Het
Spdye4c G A 2: 128,434,273 (GRCm39) V5I possibly damaging Het
Spint2 A T 7: 28,959,804 (GRCm39) V53D probably damaging Het
Stard3nl T A 13: 19,560,689 (GRCm39) N29Y probably damaging Het
Stk25 A G 1: 93,553,205 (GRCm39) S299P probably damaging Het
Sult2a3 A G 7: 13,856,786 (GRCm39) S45P probably damaging Het
Thsd7a A T 6: 12,408,967 (GRCm39) V685E probably damaging Het
Tm9sf4 T A 2: 153,029,228 (GRCm39) V92D probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Topors G A 4: 40,262,669 (GRCm39) T205I probably damaging Het
Tpo T A 12: 30,153,289 (GRCm39) Y355F probably benign Het
Uba1y T A Y: 826,032 (GRCm39) M396K possibly damaging Het
Vmn1r50 A T 6: 90,084,513 (GRCm39) Q86L probably benign Het
Vmn1r77 A G 7: 11,775,358 (GRCm39) K45E probably damaging Het
Vmn2r114 A C 17: 23,529,447 (GRCm39) N218K possibly damaging Het
Vmn2r66 T A 7: 84,643,905 (GRCm39) N835I probably damaging Het
Vps54 T G 11: 21,249,989 (GRCm39) N458K probably benign Het
Zcchc7 G T 4: 44,895,964 (GRCm39) C304F probably damaging Het
Zfp335 A T 2: 164,742,206 (GRCm39) C593S probably damaging Het
Zmynd15 C G 11: 70,353,414 (GRCm39) P214R 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
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
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'- TGATCTCTTCTGAGGCTCACAC -3'
(R):5'- ACTGCCAGACTCAGCCTTTC -3'

Sequencing Primer
(F):5'- CTCACACAGCAGGCGCC -3'
(R):5'- TAGTGCTTCCCAGGGCAC -3'
Posted On 2015-10-08