Incidental Mutation 'R0784:Myh9'
| ID |
76794 |
| 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 |
038964-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0784 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 77661209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000231192]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016771
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
| 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: ENSMUST00000231192
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.1%
|
| Validation Efficiency |
97% (59/61) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,890,985 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,558,830 (GRCm39) |
R182W |
probably damaging |
Het |
| Ahr |
C |
T |
12: 35,558,141 (GRCm39) |
G293D |
possibly damaging |
Het |
| Akna |
G |
T |
4: 63,295,125 (GRCm39) |
T1028K |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,235 (GRCm39) |
M81K |
possibly damaging |
Het |
| Asic2 |
T |
A |
11: 80,784,815 (GRCm39) |
M324L |
possibly damaging |
Het |
| Atf6 |
A |
G |
1: 170,537,516 (GRCm39) |
F635L |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,864,380 (GRCm39) |
V195E |
probably damaging |
Het |
| Bicd1 |
T |
A |
6: 149,414,861 (GRCm39) |
C525S |
probably damaging |
Het |
| Cbfa2t3 |
A |
G |
8: 123,377,226 (GRCm39) |
|
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,774,502 (GRCm39) |
T11M |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,735,110 (GRCm39) |
H754R |
possibly damaging |
Het |
| Clcn3 |
G |
T |
8: 61,382,237 (GRCm39) |
D450E |
probably benign |
Het |
| Cobl |
T |
G |
11: 12,216,843 (GRCm39) |
|
probably benign |
Het |
| Cyba |
T |
A |
8: 123,154,422 (GRCm39) |
T34S |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,911,426 (GRCm39) |
L187P |
probably damaging |
Het |
| Dennd4c |
A |
T |
4: 86,763,145 (GRCm39) |
Q1817L |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,867,764 (GRCm39) |
|
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,169,130 (GRCm39) |
S34P |
probably damaging |
Het |
| Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
| Galnt11 |
A |
G |
5: 25,463,907 (GRCm39) |
D393G |
probably damaging |
Het |
| Gm5435 |
T |
A |
12: 82,542,954 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
C |
T |
2: 118,203,533 (GRCm39) |
V46M |
possibly damaging |
Het |
| Gpr85 |
T |
A |
6: 13,836,748 (GRCm39) |
H52L |
probably benign |
Het |
| Grn |
T |
C |
11: 102,325,328 (GRCm39) |
M246T |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,802,416 (GRCm39) |
F428L |
possibly damaging |
Het |
| Hoxa13 |
G |
C |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,087,118 (GRCm39) |
D350G |
probably benign |
Het |
| Kat2a |
C |
T |
11: 100,601,667 (GRCm39) |
M249I |
probably benign |
Het |
| Klhl29 |
T |
C |
12: 5,131,251 (GRCm39) |
Y782C |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,515,893 (GRCm39) |
F2650Y |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,348,709 (GRCm39) |
I754T |
probably benign |
Het |
| LTO1 |
A |
T |
7: 144,473,014 (GRCm39) |
Y108F |
probably benign |
Het |
| Mpl |
G |
A |
4: 118,303,603 (GRCm39) |
P472S |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,081 (GRCm39) |
I326T |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,803,828 (GRCm39) |
|
probably benign |
Het |
| Or2z2 |
T |
A |
11: 58,346,131 (GRCm39) |
I215F |
possibly damaging |
Het |
| Or4ac1-ps1 |
T |
A |
2: 88,370,511 (GRCm39) |
|
noncoding transcript |
Het |
| Pcsk5 |
T |
C |
19: 17,692,133 (GRCm39) |
M184V |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,216,306 (GRCm39) |
D1143V |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,263,771 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
C |
A |
4: 117,135,195 (GRCm39) |
|
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,571,274 (GRCm39) |
L131P |
probably damaging |
Het |
| Shc4 |
A |
C |
2: 125,499,416 (GRCm39) |
W354G |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,252,661 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
T |
C |
11: 72,290,763 (GRCm39) |
D394G |
probably damaging |
Het |
| Sry |
G |
T |
Y: 2,662,731 (GRCm39) |
Q310K |
unknown |
Het |
| St7l |
A |
G |
3: 104,778,240 (GRCm39) |
M126V |
probably benign |
Het |
| St8sia3 |
T |
C |
18: 64,404,772 (GRCm39) |
W350R |
probably damaging |
Het |
| Stk35 |
A |
T |
2: 129,652,722 (GRCm39) |
K408* |
probably null |
Het |
| Thsd7b |
T |
C |
1: 129,523,096 (GRCm39) |
|
probably benign |
Het |
| Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,870,026 (GRCm39) |
D349G |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,540 (GRCm39) |
C419* |
probably null |
Het |
| Zfp541 |
A |
G |
7: 15,816,917 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCCCTATGGAGCTACAGGAAAG -3'
(R):5'- TGGGCACAGACGGAAATCATGACC -3'
Sequencing Primer
(F):5'- CTTGTGATGTGGGCAACAAGC -3'
(R):5'- GACCACAGTTAGATCTTGCACTAAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation