Incidental Mutation 'IGL02427:Myh9'
ID |
292964 |
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)
|
Stock # |
IGL02427
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 77660004 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 88
(Q88L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155562
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000231192]
|
AlphaFold |
Q8VDD5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016771
AA Change: Q877L
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000016771 Gene: ENSMUSG00000022443 AA Change: Q877L
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000231192
AA Change: Q88L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
C |
T |
5: 99,381,829 (GRCm39) |
G311D |
probably damaging |
Het |
Ablim1 |
A |
T |
19: 57,068,312 (GRCm39) |
|
probably benign |
Het |
Adgrg2 |
T |
C |
X: 159,274,400 (GRCm39) |
F863S |
probably damaging |
Het |
B3galt2 |
A |
T |
1: 143,522,254 (GRCm39) |
H130L |
probably benign |
Het |
Bbs2 |
G |
A |
8: 94,807,746 (GRCm39) |
P378S |
possibly damaging |
Het |
Ccdc154 |
A |
T |
17: 25,390,731 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
C |
T |
12: 100,887,851 (GRCm39) |
C1543Y |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,846,517 (GRCm39) |
V647E |
probably damaging |
Het |
Cfap77 |
A |
T |
2: 28,845,592 (GRCm39) |
C258* |
probably null |
Het |
Cpsf4l |
T |
G |
11: 113,600,324 (GRCm39) |
|
probably benign |
Het |
Csrnp3 |
G |
A |
2: 65,708,380 (GRCm39) |
|
probably benign |
Het |
Cul9 |
G |
A |
17: 46,813,558 (GRCm39) |
T2305I |
possibly damaging |
Het |
Cwf19l1 |
G |
A |
19: 44,121,462 (GRCm39) |
Q29* |
probably null |
Het |
Cwf19l2 |
G |
T |
9: 3,456,817 (GRCm39) |
V717L |
probably benign |
Het |
Cyp1a1 |
A |
G |
9: 57,607,858 (GRCm39) |
Y162C |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,216,275 (GRCm39) |
D589G |
probably damaging |
Het |
Dmbt1 |
G |
T |
7: 130,689,815 (GRCm39) |
|
probably null |
Het |
Dtna |
T |
C |
18: 23,784,595 (GRCm39) |
Y705H |
possibly damaging |
Het |
Fancd2 |
T |
A |
6: 113,526,313 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
A |
3: 53,443,184 (GRCm39) |
N2527Y |
probably damaging |
Het |
Gm7694 |
T |
C |
1: 170,130,113 (GRCm39) |
D95G |
probably benign |
Het |
Haus5 |
T |
C |
7: 30,361,196 (GRCm39) |
T115A |
probably benign |
Het |
Kdm3a |
A |
T |
6: 71,569,184 (GRCm39) |
|
probably benign |
Het |
Klra6 |
T |
C |
6: 129,993,680 (GRCm39) |
D197G |
possibly damaging |
Het |
Lap3 |
T |
C |
5: 45,668,475 (GRCm39) |
V429A |
probably damaging |
Het |
Mroh2b |
G |
T |
15: 4,981,042 (GRCm39) |
|
probably benign |
Het |
Myo5a |
T |
C |
9: 75,083,900 (GRCm39) |
|
probably benign |
Het |
Negr1 |
C |
T |
3: 156,267,827 (GRCm39) |
|
probably benign |
Het |
Niban1 |
A |
T |
1: 151,593,025 (GRCm39) |
D570V |
probably damaging |
Het |
Nlrp9b |
T |
G |
7: 19,776,426 (GRCm39) |
C337W |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,957,988 (GRCm39) |
C3780S |
probably damaging |
Het |
Or1e19 |
A |
T |
11: 73,316,487 (GRCm39) |
F107L |
probably damaging |
Het |
Piwil2 |
T |
A |
14: 70,635,583 (GRCm39) |
|
probably benign |
Het |
Ppp6r3 |
T |
C |
19: 3,516,580 (GRCm39) |
S213G |
probably null |
Het |
Pxdn |
T |
A |
12: 30,034,531 (GRCm39) |
C39S |
probably damaging |
Het |
Raf1 |
T |
C |
6: 115,608,288 (GRCm39) |
N241S |
probably benign |
Het |
Rapgef3 |
A |
T |
15: 97,645,017 (GRCm39) |
|
probably null |
Het |
Rhox2h |
C |
T |
X: 36,854,526 (GRCm39) |
G72D |
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,190,188 (GRCm39) |
|
probably benign |
Het |
Sema5a |
T |
C |
15: 32,673,690 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,688 (GRCm39) |
D993G |
probably damaging |
Het |
Slc5a4b |
A |
T |
10: 75,894,713 (GRCm39) |
C598S |
possibly damaging |
Het |
Sorl1 |
T |
C |
9: 41,952,986 (GRCm39) |
D685G |
probably damaging |
Het |
Sulf2 |
C |
T |
2: 165,931,218 (GRCm39) |
R263H |
probably damaging |
Het |
Tbx22 |
C |
A |
X: 106,724,777 (GRCm39) |
P17T |
probably damaging |
Het |
Tspoap1 |
A |
T |
11: 87,653,341 (GRCm39) |
T136S |
probably benign |
Het |
Tyw5 |
T |
C |
1: 57,427,884 (GRCm39) |
E240G |
possibly damaging |
Het |
Umodl1 |
C |
T |
17: 31,187,415 (GRCm39) |
|
probably benign |
Het |
Vmn1r60 |
T |
C |
7: 5,547,780 (GRCm39) |
T107A |
probably damaging |
Het |
Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
Zbtb11 |
A |
G |
16: 55,802,713 (GRCm39) |
D241G |
possibly damaging |
Het |
Zfp445 |
T |
C |
9: 122,681,295 (GRCm39) |
H882R |
probably benign |
Het |
Zscan30 |
T |
C |
18: 24,104,533 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Myh9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |