Incidental Mutation 'IGL02243:Myh9'
ID 286048
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 # IGL02243
Quality Score
Status
Chromosome 15
Chromosomal Location 77644787-77726375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77651682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1509 (L1509P)
Ref Sequence ENSEMBL: ENSMUSP00000016771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016771]
AlphaFold Q8VDD5
Predicted Effect probably damaging
Transcript: ENSMUST00000016771
AA Change: L1509P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: L1509P

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 noncoding transcript
Transcript: ENSMUST00000139729
Predicted Effect probably benign
Transcript: ENSMUST00000229259
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q 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
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
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 2015-04-16