Incidental Mutation 'R4299:Myh9'
ID 323511
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 041087-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4299 (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 77654164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1214 (T1214A)
Ref Sequence ENSEMBL: ENSMUSP00000016771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016771] [ENSMUST00000231192]
AlphaFold Q8VDD5
Predicted Effect probably benign
Transcript: ENSMUST00000016771
AA Change: T1214A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: T1214A

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
Predicted Effect probably benign
Transcript: ENSMUST00000231192
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (76/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,258,154 (GRCm39) probably null Het
Akna A T 4: 63,316,269 (GRCm39) D31E possibly damaging Het
Apbb2 A T 5: 66,470,721 (GRCm39) H528Q probably damaging Het
Atp6v1g3 C A 1: 138,211,462 (GRCm39) Y47* probably null Het
AW551984 T C 9: 39,504,275 (GRCm39) T564A probably benign Het
C4b T C 17: 34,950,118 (GRCm39) D1384G possibly damaging Het
Cbfa2t2 G A 2: 154,365,848 (GRCm39) V353I probably damaging Het
Ccdc121 A G 5: 31,644,870 (GRCm39) R208G possibly damaging Het
Cdh20 T C 1: 109,988,731 (GRCm39) I211T probably damaging Het
Cep170b T C 12: 112,705,739 (GRCm39) S1166P probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crygs G A 16: 22,624,161 (GRCm39) Q149* probably null Het
Cyp2c70 T C 19: 40,172,372 (GRCm39) Q90R probably benign Het
Cyp3a41b T C 5: 145,510,487 (GRCm39) Y129C possibly damaging Het
Dnah10 A G 5: 124,896,989 (GRCm39) T3645A probably damaging Het
Dnai3 C T 3: 145,774,561 (GRCm39) D429N probably damaging Het
Dolk A T 2: 30,175,200 (GRCm39) W282R probably damaging Het
Dsg2 T A 18: 20,729,008 (GRCm39) probably null Het
Dysf A G 6: 84,045,059 (GRCm39) T297A possibly damaging Het
Flt1 G T 5: 147,620,717 (GRCm39) D142E probably benign Het
Frmd4a C A 2: 4,337,882 (GRCm39) N29K probably benign Het
Fxyd7 A T 7: 30,744,407 (GRCm39) M36K probably benign Het
Gabbr1 C T 17: 37,366,792 (GRCm39) R178* probably null Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Il1rapl1 A T X: 86,344,313 (GRCm39) I194N probably damaging Het
Kics2 C A 10: 121,581,351 (GRCm39) H117Q probably benign Het
Klhl24 T C 16: 19,925,754 (GRCm39) M94T probably damaging Het
Kmt2e T A 5: 23,669,912 (GRCm39) I133N probably damaging Het
Macf1 A G 4: 123,293,199 (GRCm39) I5381T probably damaging Het
Madd A G 2: 91,000,148 (GRCm39) L197P probably damaging Het
Mapkapk3 G A 9: 107,134,648 (GRCm39) T296M probably damaging Het
Micall2 T C 5: 139,695,226 (GRCm39) probably benign Het
Ncapd3 A G 9: 26,963,623 (GRCm39) N492S probably benign Het
Neurl4 A C 11: 69,799,887 (GRCm39) D1055A probably damaging Het
Nrbp1 T C 5: 31,407,943 (GRCm39) probably null Het
Or13a20 T C 7: 140,232,156 (GRCm39) V88A probably benign Het
Or1e21 A T 11: 73,344,827 (GRCm39) D70E probably damaging Het
Or52z1 T A 7: 103,437,202 (GRCm39) H94L probably benign Het
Or5j3 A T 2: 86,128,585 (GRCm39) I142F possibly damaging Het
Or6k8-ps1 T A 1: 173,979,878 (GRCm39) Y265* probably null Het
Or8b42 T G 9: 38,342,108 (GRCm39) Y177D probably damaging Het
Or8d1b T A 9: 38,887,055 (GRCm39) F28I probably damaging Het
Or8g19 T C 9: 39,056,295 (GRCm39) S300P probably benign Het
Patj C A 4: 98,565,558 (GRCm39) N1090K possibly damaging Het
Pde8a A G 7: 80,977,783 (GRCm39) D692G probably benign Het
Ppa2 G T 3: 133,073,603 (GRCm39) K220N probably damaging Het
Pramel32 T C 4: 88,546,419 (GRCm39) K137E probably damaging Het
Ptgr3 A T 18: 84,112,626 (GRCm39) I101F possibly damaging Het
Rad54b A G 4: 11,597,865 (GRCm39) H250R probably damaging Het
Reln A C 5: 22,125,485 (GRCm39) C2733G probably damaging Het
Rgs14 A G 13: 55,531,566 (GRCm39) T497A probably damaging Het
Rpl13-ps3 T A 14: 59,130,972 (GRCm39) noncoding transcript Het
Scn11a T G 9: 119,594,572 (GRCm39) I1274L probably damaging Het
Sco1 A T 11: 66,946,626 (GRCm39) H133L possibly damaging Het
Slc4a8 T C 15: 100,694,521 (GRCm39) probably null Het
Smc2 C T 4: 52,440,238 (GRCm39) probably benign Het
Spata18 T C 5: 73,824,245 (GRCm39) I156T probably benign Het
St3gal2 T C 8: 111,688,991 (GRCm39) M177T probably benign Het
Stt3a A G 9: 36,674,640 (GRCm39) F48L probably damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Szt2 A G 4: 118,222,603 (GRCm39) probably benign Het
Telo2 A T 17: 25,334,230 (GRCm39) S6T possibly damaging Het
Tnfrsf11b T C 15: 54,115,491 (GRCm39) M369V probably benign Het
Tnfrsf13b C G 11: 61,031,643 (GRCm39) probably null Het
Vmn1r234 A T 17: 21,449,283 (GRCm39) M66L probably benign Het
Vmn2r12 C A 5: 109,239,830 (GRCm39) M244I probably benign Het
Wdfy2 T A 14: 63,162,589 (GRCm39) L97* probably null Het
Xrcc5 T C 1: 72,433,879 (GRCm39) *733Q probably null Het
Zfp1004 G A 2: 150,032,653 (GRCm39) D17N probably damaging Het
Zfp516 G A 18: 83,005,622 (GRCm39) G842D possibly damaging Het
Zwilch A G 9: 64,062,444 (GRCm39) 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
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
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'- TGCAGCTTGGTGACCTTGTC -3'
(R):5'- CCCCTCTCAGAAAGGGAAAG -3'

Sequencing Primer
(F):5'- GTGACCTTGTCGGCCAGTTC -3'
(R):5'- AAAGCTTGCGGGATTCTGTCAC -3'
Posted On 2015-06-20