Incidental Mutation 'R4946:Myh9'
| ID |
383454 |
| 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 |
042543-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4946 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 77657540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 1068
(Q1068H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000231192]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016771
AA Change: Q1068H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: Q1068H
| 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 benign
Transcript: ENSMUST00000229259
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231192
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,977,300 (GRCm39) |
D98G |
probably damaging |
Het |
| Adgre1 |
G |
A |
17: 57,750,918 (GRCm39) |
V531I |
probably benign |
Het |
| Aldoart2 |
A |
G |
12: 55,612,801 (GRCm39) |
Q242R |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,735,589 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,733,947 (GRCm39) |
A737V |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,401,704 (GRCm39) |
I789V |
probably benign |
Het |
| Ankrd13c |
T |
C |
3: 157,711,410 (GRCm39) |
V510A |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,393,118 (GRCm39) |
M2216K |
probably damaging |
Het |
| Arrdc1 |
A |
G |
2: 24,815,860 (GRCm39) |
V380A |
probably benign |
Het |
| B3galt1 |
C |
A |
2: 67,948,913 (GRCm39) |
N209K |
possibly damaging |
Het |
| Cd300c2 |
A |
T |
11: 114,887,731 (GRCm39) |
C224S |
probably benign |
Het |
| Cdk4 |
T |
C |
10: 126,900,759 (GRCm39) |
|
probably null |
Het |
| Cdk5rap1 |
T |
C |
2: 154,210,794 (GRCm39) |
T115A |
possibly damaging |
Het |
| Clvs1 |
A |
T |
4: 9,281,831 (GRCm39) |
R92* |
probably null |
Het |
| Cnga1 |
A |
G |
5: 72,762,107 (GRCm39) |
V469A |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,479 (GRCm39) |
F16L |
probably benign |
Het |
| Dlg5 |
A |
T |
14: 24,204,429 (GRCm39) |
C1299S |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,530,783 (GRCm39) |
Y3690F |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,703 (GRCm39) |
M1971V |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,388,050 (GRCm39) |
V3170M |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 64,963,200 (GRCm39) |
Y485H |
probably benign |
Het |
| Dsc2 |
T |
C |
18: 20,183,214 (GRCm39) |
D68G |
probably damaging |
Het |
| Eeig2 |
A |
G |
3: 108,887,544 (GRCm39) |
V240A |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,351,752 (GRCm39) |
D121E |
probably benign |
Het |
| Ermap |
A |
G |
4: 119,040,505 (GRCm39) |
V311A |
probably damaging |
Het |
| Fbxw11 |
C |
T |
11: 32,689,226 (GRCm39) |
R437C |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,634 (GRCm39) |
M495V |
probably benign |
Het |
| Hacd1 |
C |
T |
2: 14,049,948 (GRCm39) |
|
probably null |
Het |
| Itgav |
A |
G |
2: 83,619,327 (GRCm39) |
R596G |
probably benign |
Het |
| Kars1 |
T |
C |
8: 112,728,352 (GRCm39) |
H215R |
possibly damaging |
Het |
| Kif26a |
G |
A |
12: 112,144,228 (GRCm39) |
R1494H |
probably damaging |
Het |
| Klf12 |
G |
A |
14: 100,260,393 (GRCm39) |
S112L |
possibly damaging |
Het |
| Krt77 |
T |
C |
15: 101,777,998 (GRCm39) |
Y19C |
unknown |
Het |
| Lrrc4c |
A |
G |
2: 97,460,834 (GRCm39) |
T487A |
probably benign |
Het |
| Lrrn1 |
A |
G |
6: 107,545,851 (GRCm39) |
M550V |
probably benign |
Het |
| Lsr |
C |
A |
7: 30,657,634 (GRCm39) |
R442L |
probably benign |
Het |
| Lysmd2 |
A |
C |
9: 75,542,728 (GRCm39) |
T112P |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,909,017 (GRCm39) |
S99T |
probably benign |
Het |
| Mettl4 |
A |
G |
17: 95,047,960 (GRCm39) |
V227A |
probably benign |
Het |
| Mill2 |
T |
A |
7: 18,590,608 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
T |
C |
11: 101,895,848 (GRCm39) |
N476D |
probably benign |
Het |
| Mtmr6 |
C |
T |
14: 60,517,638 (GRCm39) |
P83L |
possibly damaging |
Het |
| Myh3 |
T |
C |
11: 66,984,364 (GRCm39) |
I1067T |
probably benign |
Het |
| Narf |
T |
A |
11: 121,141,179 (GRCm39) |
H304Q |
possibly damaging |
Het |
| Nfatc2ip |
G |
T |
7: 125,995,784 (GRCm39) |
P35Q |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 54,112,618 (GRCm39) |
P426Q |
probably damaging |
Het |
| Or10aa3 |
T |
G |
1: 173,878,400 (GRCm39) |
S154A |
possibly damaging |
Het |
| Or4e1 |
G |
A |
14: 52,700,740 (GRCm39) |
T242I |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,311 (GRCm39) |
Y207H |
possibly damaging |
Het |
| Or51i1 |
T |
A |
7: 103,671,219 (GRCm39) |
Q102L |
probably damaging |
Het |
| Or5p5 |
A |
G |
7: 107,414,589 (GRCm39) |
H266R |
possibly damaging |
Het |
| Pcdh10 |
A |
T |
3: 45,333,917 (GRCm39) |
E77V |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,192,019 (GRCm39) |
R2764Q |
probably damaging |
Het |
| Pgbd5 |
T |
C |
8: 125,097,324 (GRCm39) |
D493G |
possibly damaging |
Het |
| Piezo2 |
G |
T |
18: 63,290,333 (GRCm39) |
T142N |
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,187,015 (GRCm39) |
I761V |
probably benign |
Het |
| Plekhg4 |
T |
G |
8: 106,108,628 (GRCm39) |
D1196E |
probably null |
Het |
| Pparg |
A |
G |
6: 115,427,989 (GRCm39) |
K159E |
probably damaging |
Het |
| Psmb1 |
A |
T |
17: 15,718,478 (GRCm39) |
M16K |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,361,595 (GRCm39) |
I2139V |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,282,887 (GRCm39) |
S239T |
probably damaging |
Het |
| Serpina11 |
A |
G |
12: 103,950,923 (GRCm39) |
V266A |
probably damaging |
Het |
| Sf3a2 |
C |
G |
10: 80,639,947 (GRCm39) |
|
probably benign |
Het |
| Smim18 |
T |
C |
8: 34,232,587 (GRCm39) |
T11A |
possibly damaging |
Het |
| Snx6 |
G |
A |
12: 54,817,528 (GRCm39) |
T7I |
probably damaging |
Het |
| Srcin1 |
T |
A |
11: 97,442,768 (GRCm39) |
D75V |
probably damaging |
Het |
| Srsf12 |
T |
A |
4: 33,231,174 (GRCm39) |
S223T |
probably damaging |
Het |
| Taf4b |
G |
T |
18: 14,946,599 (GRCm39) |
C474F |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,444,722 (GRCm39) |
C542* |
probably null |
Het |
| Tbc1d24 |
A |
G |
17: 24,427,510 (GRCm39) |
S151P |
possibly damaging |
Het |
| Tssk6 |
T |
C |
8: 70,355,714 (GRCm39) |
S253P |
probably benign |
Het |
| Ttc39c |
G |
A |
18: 12,857,999 (GRCm39) |
W300* |
probably null |
Het |
| Ttc6 |
T |
A |
12: 57,689,926 (GRCm39) |
W539R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,582,770 (GRCm39) |
T22708A |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,749,053 (GRCm39) |
E3999* |
probably null |
Het |
| Vill |
T |
G |
9: 118,897,508 (GRCm39) |
L261R |
probably damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,409,159 (GRCm39) |
S162P |
probably damaging |
Het |
| Zfp516 |
T |
C |
18: 82,974,219 (GRCm39) |
I139T |
probably benign |
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 |
|
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 |
|
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'- CAGAAGTGTCTTGCTCTTGGC -3'
(R):5'- TGCATGGTGTCCCTTTAAACAG -3'
Sequencing Primer
(F):5'- TCTTGGCTCTGACACAGAAG -3'
(R):5'- AGTCCATGTGTCCTACAAGTAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation