Incidental Mutation 'IGL01832:Myh9'
ID 154816
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01832
Quality Score
Status
Chromosome 15
Chromosomal Location 77644787-77726375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 77675953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 244 (D244E)
Ref Sequence ENSEMBL: ENSMUSP00000016771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016771] [ENSMUST00000123101]
AlphaFold Q8VDD5
Predicted Effect probably benign
Transcript: ENSMUST00000016771
AA Change: D244E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: D244E

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: ENSMUST00000123101
SMART Domains Protein: ENSMUSP00000116198
Gene: ENSMUSG00000022443

DomainStartEndE-ValueType
Pfam:Myosin_N 29 71 6.8e-15 PFAM
Pfam:Myosin_head 83 114 5.9e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129453
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Ctps2 G T X: 161,719,699 (GRCm39) probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging 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
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
R3709:Myh9 UTSW 15 77,657,547 (GRCm39) missense possibly damaging 0.84
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
Posted On 2014-02-04