Incidental Mutation 'IGL01666:Myh9'
ID 103309
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 # IGL01666
Quality Score
Status
Chromosome 15
Chromosomal Location 77644787-77726375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77646131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1951 (A1951T)
Ref Sequence ENSEMBL: ENSMUSP00000016771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016771] [ENSMUST00000070911] [ENSMUST00000229332]
AlphaFold Q8VDD5
Predicted Effect probably benign
Transcript: ENSMUST00000016771
AA Change: A1951T

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: A1951T

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: ENSMUST00000070911
SMART Domains Protein: ENSMUSP00000064237
Gene: ENSMUSG00000056656

DomainStartEndE-ValueType
Pfam:ApoL 26 333 2.5e-131 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139729
Predicted Effect probably benign
Transcript: ENSMUST00000229259
Predicted Effect probably benign
Transcript: ENSMUST00000229332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230332
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C A 1: 25,499,832 (GRCm39) A664S probably damaging Het
Ankrd61 T A 5: 143,827,954 (GRCm39) L297F probably damaging Het
Chrnd A T 1: 87,126,458 (GRCm39) S513C possibly damaging Het
Col24a1 G A 3: 145,050,447 (GRCm39) V645M possibly damaging Het
Csn3 T C 5: 88,078,016 (GRCm39) V174A unknown Het
D630039A03Rik C T 4: 57,910,570 (GRCm39) V81I possibly damaging Het
Deptor G A 15: 55,012,775 (GRCm39) R54Q probably damaging Het
Ell A G 8: 71,038,463 (GRCm39) H400R probably benign Het
Fcgbpl1 G A 7: 27,852,717 (GRCm39) V1335M probably damaging Het
Itga2 A G 13: 114,973,627 (GRCm39) probably null Het
Itpr3 A G 17: 27,336,152 (GRCm39) I2293V probably benign Het
Matcap2 A G 9: 22,342,994 (GRCm39) D163G probably benign Het
Mmut T C 17: 41,269,702 (GRCm39) L687P probably damaging Het
Mrps27 A G 13: 99,546,324 (GRCm39) E241G probably damaging Het
Oca2 G A 7: 55,964,559 (GRCm39) probably null Het
Or2n1c C T 17: 38,519,780 (GRCm39) L215F probably benign Het
Or6d15 T A 6: 116,559,296 (GRCm39) I204F possibly damaging Het
Ptgdr2 T C 19: 10,918,274 (GRCm39) F264L probably benign Het
Ptpn23 T C 9: 110,215,613 (GRCm39) T1384A possibly damaging Het
Rasgrf2 A T 13: 92,174,718 (GRCm39) D170E probably damaging Het
Rnf20 C T 4: 49,654,486 (GRCm39) Q848* 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
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
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 2014-01-21