Incidental Mutation 'R3709:Myh9'
ID 259512
Institutional Source Beutler Lab
Gene Symbol Myh9
Ensembl Gene ENSMUSG00000022443
Gene Name myosin, heavy polypeptide 9, non-muscle
Synonyms Myhn-1, myosin IIA, Fltn, Myhn1, D0Jmb2, E030044M24Rik, NMHC II-A
MMRRC Submission 040702-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3709 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 77644787-77726375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77657547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1066 (E1066G)
Ref Sequence ENSEMBL: ENSMUSP00000016771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016771] [ENSMUST00000231192]
AlphaFold Q8VDD5
Predicted Effect possibly damaging
Transcript: ENSMUST00000016771
AA Change: E1066G

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: E1066G

DomainStartEndE-ValueType
Pfam:Myosin_N 29 69 3.4e-11 PFAM
MYSc 75 777 N/A SMART
IQ 778 800 1.46e-3 SMART
Pfam:Myosin_tail_1 841 1921 N/A PFAM
low complexity region 1948 1959 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229259
Predicted Effect probably benign
Transcript: ENSMUST00000231192
Meta Mutation Damage Score 0.1911 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous null mice display hearing loss with incomplete penetrance. Mice homozygous or heterozygous for one of several knock-in alleles exhibit macrothrombocytopenia, nephritis, cataracts and deafness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T G 11: 48,910,480 (GRCm39) D651A probably damaging Het
Abcb1a A G 5: 8,788,738 (GRCm39) N1039S probably benign Het
Abcc2 G T 19: 43,786,885 (GRCm39) V169F possibly damaging Het
Adcy8 T C 15: 64,597,384 (GRCm39) probably benign Het
Aida C A 1: 183,085,610 (GRCm39) probably null Het
Armc8 A G 9: 99,402,550 (GRCm39) I333T probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Ccdc92b C A 11: 74,528,933 (GRCm39) R146S probably damaging Het
Cdc42bpa A G 1: 179,892,628 (GRCm39) D264G probably damaging Het
Cenpf A G 1: 189,381,009 (GRCm39) S2804P possibly damaging Het
Cic A G 7: 24,986,406 (GRCm39) D1276G probably damaging Het
Cldn19 T C 4: 119,114,094 (GRCm39) S79P possibly damaging Het
Ctdp1 G A 18: 80,493,428 (GRCm39) Q356* probably null Het
Cyp2c69 A G 19: 39,839,667 (GRCm39) probably benign Het
Dhrs3 T C 4: 144,620,281 (GRCm39) probably null Het
Fhod3 T A 18: 25,223,815 (GRCm39) W1054R probably damaging Het
Gfral G A 9: 76,100,725 (GRCm39) R238* probably null Het
Gm10322 C A 10: 59,451,941 (GRCm39) D19E possibly damaging Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Idh3a T C 9: 54,493,810 (GRCm39) S4P possibly damaging Het
Il15ra G T 2: 11,735,458 (GRCm39) probably null Het
Ipo8 A T 6: 148,707,842 (GRCm39) probably null Het
Iqgap1 G A 7: 80,366,835 (GRCm39) T1595I possibly damaging Het
Kalrn C T 16: 34,212,400 (GRCm39) probably null Het
Klrb1a T C 6: 128,595,466 (GRCm39) D96G probably benign Het
Lrp1b C T 2: 40,587,454 (GRCm39) V165M unknown Het
Lrp4 A C 2: 91,320,811 (GRCm39) T975P possibly damaging Het
Lsm14a T A 7: 34,053,204 (GRCm39) I283F probably damaging Het
Mael T C 1: 166,066,135 (GRCm39) D34G probably damaging Het
Map2 C T 1: 66,455,015 (GRCm39) Q1302* probably null Het
Mctp1 T C 13: 76,972,999 (GRCm39) probably null Het
Mlxip T C 5: 123,585,537 (GRCm39) V642A probably benign Het
Naa35 T A 13: 59,765,846 (GRCm39) probably benign Het
Nacc1 T A 8: 85,403,828 (GRCm39) I16F probably damaging Het
Ncapd3 T A 9: 26,963,645 (GRCm39) N499K probably benign Het
Or10ab4 A G 7: 107,655,004 (GRCm39) M272V possibly damaging Het
Osbpl10 C A 9: 115,036,655 (GRCm39) P253Q probably benign Het
Ptpn21 G T 12: 98,654,800 (GRCm39) S722R probably benign Het
Rab44 C T 17: 29,358,843 (GRCm39) P344S probably benign Het
Rbms2 C T 10: 127,979,312 (GRCm39) R139Q probably damaging Het
Sh3bp2 T C 5: 34,709,002 (GRCm39) Y32H probably damaging Het
Slc6a15 A G 10: 103,229,275 (GRCm39) I105V probably benign Het
Thumpd3 A G 6: 113,032,652 (GRCm39) D130G possibly damaging Het
Trib1 A G 15: 59,526,210 (GRCm39) Y260C probably damaging Het
Tsks G T 7: 44,601,309 (GRCm39) R208L possibly damaging Het
Ttn G T 2: 76,577,585 (GRCm39) S22690* probably null Het
Ttyh2 T G 11: 114,609,958 (GRCm39) S510A possibly damaging Het
Was G T X: 7,952,927 (GRCm39) S271R probably benign Het
Zfp267 T A 3: 36,213,725 (GRCm39) C20S possibly damaging Het
Zfp472 T A 17: 33,196,685 (GRCm39) Y253* probably null Het
Other mutations in Myh9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Myh9 APN 15 77,681,195 (GRCm39) splice site probably benign
IGL01105:Myh9 APN 15 77,665,678 (GRCm39) missense probably benign 0.01
IGL01137:Myh9 APN 15 77,653,742 (GRCm39) missense probably benign 0.19
IGL01399:Myh9 APN 15 77,651,470 (GRCm39) missense probably damaging 1.00
IGL01666:Myh9 APN 15 77,646,131 (GRCm39) missense probably benign 0.31
IGL01832:Myh9 APN 15 77,675,953 (GRCm39) missense probably benign 0.02
IGL01933:Myh9 APN 15 77,665,418 (GRCm39) missense probably benign 0.00
IGL02049:Myh9 APN 15 77,654,070 (GRCm39) missense probably benign 0.01
IGL02237:Myh9 APN 15 77,670,854 (GRCm39) missense probably benign 0.03
IGL02243:Myh9 APN 15 77,651,682 (GRCm39) missense probably damaging 1.00
IGL02248:Myh9 APN 15 77,670,814 (GRCm39) missense probably damaging 0.99
IGL02292:Myh9 APN 15 77,692,196 (GRCm39) missense probably damaging 1.00
IGL02315:Myh9 APN 15 77,654,173 (GRCm39) missense probably benign 0.00
IGL02427:Myh9 APN 15 77,660,004 (GRCm39) missense probably damaging 0.98
IGL02675:Myh9 APN 15 77,673,130 (GRCm39) missense possibly damaging 0.89
IGL02727:Myh9 APN 15 77,675,942 (GRCm39) missense probably benign 0.11
IGL02749:Myh9 APN 15 77,692,186 (GRCm39) nonsense probably null
IGL02887:Myh9 APN 15 77,680,220 (GRCm39) nonsense probably null
IGL02926:Myh9 APN 15 77,671,826 (GRCm39) missense probably damaging 1.00
IGL02945:Myh9 APN 15 77,646,205 (GRCm39) missense probably benign 0.05
IGL03137:Myh9 APN 15 77,675,289 (GRCm39) missense probably damaging 1.00
R0784:Myh9 UTSW 15 77,661,209 (GRCm39) splice site probably benign
R1375:Myh9 UTSW 15 77,653,568 (GRCm39) splice site probably null
R1535:Myh9 UTSW 15 77,662,013 (GRCm39) missense probably damaging 0.98
R1563:Myh9 UTSW 15 77,656,057 (GRCm39) missense probably damaging 0.99
R1629:Myh9 UTSW 15 77,648,601 (GRCm39) missense probably damaging 1.00
R1635:Myh9 UTSW 15 77,660,099 (GRCm39) missense probably benign 0.00
R1635:Myh9 UTSW 15 77,655,367 (GRCm39) missense probably benign 0.06
R1693:Myh9 UTSW 15 77,697,097 (GRCm39) missense probably damaging 1.00
R1791:Myh9 UTSW 15 77,657,464 (GRCm39) unclassified probably benign
R2010:Myh9 UTSW 15 77,656,147 (GRCm39) missense probably benign 0.06
R2048:Myh9 UTSW 15 77,655,332 (GRCm39) missense possibly damaging 0.70
R2078:Myh9 UTSW 15 77,648,112 (GRCm39) missense probably benign 0.16
R2092:Myh9 UTSW 15 77,648,550 (GRCm39) nonsense probably null
R2376:Myh9 UTSW 15 77,667,617 (GRCm39) missense probably benign 0.18
R2922:Myh9 UTSW 15 77,697,384 (GRCm39) missense probably damaging 1.00
R3710:Myh9 UTSW 15 77,657,547 (GRCm39) missense possibly damaging 0.84
R3737:Myh9 UTSW 15 77,651,012 (GRCm39) missense probably damaging 0.99
R3738:Myh9 UTSW 15 77,651,012 (GRCm39) missense probably damaging 0.99
R3739:Myh9 UTSW 15 77,651,012 (GRCm39) missense probably damaging 0.99
R4299:Myh9 UTSW 15 77,654,164 (GRCm39) missense probably benign
R4384:Myh9 UTSW 15 77,675,912 (GRCm39) splice site probably benign
R4514:Myh9 UTSW 15 77,648,200 (GRCm39) missense probably benign
R4631:Myh9 UTSW 15 77,681,228 (GRCm39) missense probably damaging 0.99
R4642:Myh9 UTSW 15 77,646,151 (GRCm39) missense probably benign 0.10
R4695:Myh9 UTSW 15 77,653,053 (GRCm39) missense probably damaging 0.99
R4709:Myh9 UTSW 15 77,671,717 (GRCm39) missense probably damaging 1.00
R4766:Myh9 UTSW 15 77,692,077 (GRCm39) missense probably damaging 0.97
R4826:Myh9 UTSW 15 77,673,146 (GRCm39) nonsense probably null
R4842:Myh9 UTSW 15 77,653,453 (GRCm39) missense probably damaging 0.99
R4946:Myh9 UTSW 15 77,657,540 (GRCm39) missense probably damaging 1.00
R5030:Myh9 UTSW 15 77,691,998 (GRCm39) intron probably benign
R5055:Myh9 UTSW 15 77,648,723 (GRCm39) missense probably benign 0.12
R5202:Myh9 UTSW 15 77,665,310 (GRCm39) critical splice donor site probably null
R5413:Myh9 UTSW 15 77,692,186 (GRCm39) nonsense probably null
R5435:Myh9 UTSW 15 77,653,809 (GRCm39) missense probably benign 0.00
R5701:Myh9 UTSW 15 77,675,964 (GRCm39) missense probably benign 0.00
R5757:Myh9 UTSW 15 77,655,362 (GRCm39) missense probably benign 0.44
R5793:Myh9 UTSW 15 77,653,077 (GRCm39) missense probably benign 0.23
R5952:Myh9 UTSW 15 77,657,532 (GRCm39) missense possibly damaging 0.65
R6248:Myh9 UTSW 15 77,669,422 (GRCm39) nonsense probably null
R6648:Myh9 UTSW 15 77,650,972 (GRCm39) missense probably benign 0.08
R7055:Myh9 UTSW 15 77,659,398 (GRCm39) missense probably damaging 1.00
R7106:Myh9 UTSW 15 77,659,321 (GRCm39) missense probably benign
R7180:Myh9 UTSW 15 77,692,110 (GRCm39) missense probably benign 0.00
R7205:Myh9 UTSW 15 77,667,672 (GRCm39) missense probably benign 0.08
R7254:Myh9 UTSW 15 77,650,024 (GRCm39) missense probably damaging 1.00
R7284:Myh9 UTSW 15 77,671,796 (GRCm39) missense probably damaging 1.00
R7417:Myh9 UTSW 15 77,648,065 (GRCm39) nonsense probably null
R7695:Myh9 UTSW 15 77,650,936 (GRCm39) missense probably benign 0.31
R7750:Myh9 UTSW 15 77,667,610 (GRCm39) missense probably benign 0.01
R7854:Myh9 UTSW 15 77,675,953 (GRCm39) missense probably benign 0.02
R8220:Myh9 UTSW 15 77,648,747 (GRCm39) missense possibly damaging 0.87
R8324:Myh9 UTSW 15 77,673,117 (GRCm39) critical splice donor site probably null
R8837:Myh9 UTSW 15 77,661,137 (GRCm39) missense possibly damaging 0.71
R8944:Myh9 UTSW 15 77,655,432 (GRCm39) missense probably benign
R9025:Myh9 UTSW 15 77,653,192 (GRCm39) missense probably benign
R9229:Myh9 UTSW 15 77,675,017 (GRCm39) missense possibly damaging 0.91
R9396:Myh9 UTSW 15 77,647,496 (GRCm39) missense probably benign
Z1088:Myh9 UTSW 15 77,659,458 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTGTCTTGCTCTTGGCTC -3'
(R):5'- GTGTGCATGGTGTCCCTTTAAAC -3'

Sequencing Primer
(F):5'- TCTTGGCTCTGACACAGAAG -3'
(R):5'- AGTCCATGTGTCCTACAAGTAC -3'
Posted On 2015-01-23