Incidental Mutation 'IGL02675:Myh9'
ID303098
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myh9
Ensembl Gene ENSMUSG00000022443
Gene Namemyosin, heavy polypeptide 9, non-muscle
SynonymsNMHC II-A, D0Jmb2, myosin IIA, Fltn, Myhn1, Myhn-1, E030044M24Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02675
Quality Score
Status
Chromosome15
Chromosomal Location77760587-77842175 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77788930 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 406 (T406A)
Ref Sequence ENSEMBL: ENSMUSP00000016771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016771] [ENSMUST00000123101]
Predicted Effect possibly damaging
Transcript: ENSMUST00000016771
AA Change: T406A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: T406A

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: 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,483,540 I204T probably damaging Het
Anxa8 A G 14: 34,093,414 D150G probably damaging Het
Arel1 T C 12: 84,930,228 T438A probably damaging Het
Asphd1 T C 7: 126,946,834 probably benign Het
Bcl2l12 A T 7: 44,991,400 probably benign Het
Cand1 A G 10: 119,219,697 I87T probably damaging Het
Ccdc80 A C 16: 45,116,332 T707P probably damaging Het
Cdh9 T A 15: 16,849,076 probably null Het
Chrd T C 16: 20,739,949 probably benign Het
Cpn1 T C 19: 43,980,930 Q98R probably benign Het
D630045J12Rik A G 6: 38,195,485 S583P possibly damaging Het
Dnah7a A G 1: 53,504,024 I2329T possibly damaging Het
Egln3 A G 12: 54,203,210 S118P probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Hapln3 C T 7: 79,117,848 probably null Het
Heatr3 T C 8: 88,144,557 F180L possibly damaging Het
Herc2 T A 7: 56,164,101 S2661T probably damaging Het
Hook3 A T 8: 26,061,434 L126Q possibly damaging Het
Hoxd8 T G 2: 74,706,586 L214R probably damaging Het
Ifna1 T G 4: 88,850,433 L116R probably damaging Het
Il31ra T A 13: 112,524,352 T487S probably benign Het
Kifc2 C T 15: 76,662,979 R252W probably damaging Het
Meox2 A G 12: 37,178,334 D290G probably damaging Het
Micu2 A G 14: 57,945,377 probably benign Het
Naip1 T A 13: 100,409,118 M1301L probably benign Het
Pbrm1 T C 14: 31,106,287 L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,283,959 A194E probably benign Het
Pdcd10 G A 3: 75,527,594 T130I probably damaging Het
Pprc1 G A 19: 46,063,507 G491D probably damaging Het
Prss57 A G 10: 79,787,475 V46A probably benign Het
Ptcd3 A G 6: 71,883,442 probably null Het
Riok1 C T 13: 38,050,243 P262S probably damaging Het
Rnf13 A G 3: 57,779,396 N70S probably benign Het
Skint7 T A 4: 111,981,981 D157E probably benign Het
Sri T C 5: 8,067,534 F191S probably damaging Het
Stat5b T C 11: 100,787,374 R638G probably benign Het
Suds3 C T 5: 117,094,905 probably null Het
Tmem19 A G 10: 115,342,573 L281P probably damaging Het
Tmf1 A G 6: 97,164,042 probably benign Het
Trio A G 15: 27,768,039 probably benign Het
Usp28 T C 9: 49,039,091 I940T possibly damaging Het
Wisp3 A G 10: 39,151,240 V332A possibly damaging Het
Zfp280d T A 9: 72,312,222 I227K probably benign Het
Zfp335 A G 2: 164,910,689 V45A probably benign Het
Other mutations in Myh9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00796:Myh9 APN 15 77796995 splice site probably benign
IGL01105:Myh9 APN 15 77781478 missense probably benign 0.01
IGL01137:Myh9 APN 15 77769542 missense probably benign 0.19
IGL01399:Myh9 APN 15 77767270 missense probably damaging 1.00
IGL01666:Myh9 APN 15 77761931 missense probably benign 0.31
IGL01832:Myh9 APN 15 77791753 missense probably benign 0.02
IGL01933:Myh9 APN 15 77781218 missense probably benign 0.00
IGL02049:Myh9 APN 15 77769870 missense probably benign 0.01
IGL02237:Myh9 APN 15 77786654 missense probably benign 0.03
IGL02243:Myh9 APN 15 77767482 missense probably damaging 1.00
IGL02248:Myh9 APN 15 77786614 missense probably damaging 0.99
IGL02292:Myh9 APN 15 77807996 missense probably damaging 1.00
IGL02315:Myh9 APN 15 77769973 missense probably benign 0.00
IGL02427:Myh9 APN 15 77775804 missense probably damaging 0.98
IGL02727:Myh9 APN 15 77791742 missense probably benign 0.11
IGL02749:Myh9 APN 15 77807986 nonsense probably null
IGL02887:Myh9 APN 15 77796020 nonsense probably null
IGL02926:Myh9 APN 15 77787626 missense probably damaging 1.00
IGL02945:Myh9 APN 15 77762005 missense probably benign 0.05
IGL03137:Myh9 APN 15 77791089 missense probably damaging 1.00
R0784:Myh9 UTSW 15 77777009 splice site probably benign
R1375:Myh9 UTSW 15 77769368 splice site probably null
R1535:Myh9 UTSW 15 77777813 missense probably damaging 0.98
R1563:Myh9 UTSW 15 77771857 missense probably damaging 0.99
R1629:Myh9 UTSW 15 77764401 missense probably damaging 1.00
R1635:Myh9 UTSW 15 77771167 missense probably benign 0.06
R1635:Myh9 UTSW 15 77775899 missense probably benign 0.00
R1693:Myh9 UTSW 15 77812897 missense probably damaging 1.00
R1791:Myh9 UTSW 15 77773264 unclassified probably benign
R2010:Myh9 UTSW 15 77771947 missense probably benign 0.06
R2048:Myh9 UTSW 15 77771132 missense possibly damaging 0.70
R2078:Myh9 UTSW 15 77763912 missense probably benign 0.16
R2092:Myh9 UTSW 15 77764350 nonsense probably null
R2376:Myh9 UTSW 15 77783417 missense probably benign 0.18
R2922:Myh9 UTSW 15 77813184 missense probably damaging 1.00
R3709:Myh9 UTSW 15 77773347 missense possibly damaging 0.84
R3710:Myh9 UTSW 15 77773347 missense possibly damaging 0.84
R3737:Myh9 UTSW 15 77766812 missense probably damaging 0.99
R3738:Myh9 UTSW 15 77766812 missense probably damaging 0.99
R3739:Myh9 UTSW 15 77766812 missense probably damaging 0.99
R4299:Myh9 UTSW 15 77769964 missense probably benign
R4384:Myh9 UTSW 15 77791712 splice site probably benign
R4514:Myh9 UTSW 15 77764000 missense probably benign
R4631:Myh9 UTSW 15 77797028 missense probably damaging 0.99
R4642:Myh9 UTSW 15 77761951 missense probably benign 0.10
R4695:Myh9 UTSW 15 77768853 missense probably damaging 0.99
R4709:Myh9 UTSW 15 77787517 missense probably damaging 1.00
R4766:Myh9 UTSW 15 77807877 missense probably damaging 0.97
R4826:Myh9 UTSW 15 77788946 nonsense probably null
R4842:Myh9 UTSW 15 77769253 missense probably damaging 0.99
R4946:Myh9 UTSW 15 77773340 missense probably damaging 1.00
R5030:Myh9 UTSW 15 77807798 intron probably benign
R5055:Myh9 UTSW 15 77764523 missense probably benign 0.12
R5202:Myh9 UTSW 15 77781110 critical splice donor site probably null
R5413:Myh9 UTSW 15 77807986 nonsense probably null
R5435:Myh9 UTSW 15 77769609 missense probably benign 0.00
R5701:Myh9 UTSW 15 77791764 missense probably benign 0.00
R5757:Myh9 UTSW 15 77771162 missense probably benign 0.44
R5793:Myh9 UTSW 15 77768877 missense probably benign 0.23
R5952:Myh9 UTSW 15 77773332 missense possibly damaging 0.65
R6248:Myh9 UTSW 15 77785222 nonsense probably null
R6648:Myh9 UTSW 15 77766772 missense probably benign 0.08
R7055:Myh9 UTSW 15 77775198 missense probably damaging 1.00
R7106:Myh9 UTSW 15 77775121 missense probably benign
R7180:Myh9 UTSW 15 77807910 missense probably benign 0.00
R7205:Myh9 UTSW 15 77783472 missense probably benign 0.08
R7254:Myh9 UTSW 15 77765824 missense probably damaging 1.00
R7284:Myh9 UTSW 15 77787596 missense probably damaging 1.00
R7417:Myh9 UTSW 15 77763865 nonsense probably null
R7695:Myh9 UTSW 15 77766736 missense probably benign 0.31
R7750:Myh9 UTSW 15 77783410 missense probably benign 0.01
R7854:Myh9 UTSW 15 77791753 missense probably benign 0.02
R7937:Myh9 UTSW 15 77791753 missense probably benign 0.02
Z1088:Myh9 UTSW 15 77775258 missense probably damaging 1.00
Posted On2015-04-16