Incidental Mutation 'R4709:Myh9'
| ID |
355509 |
| 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 |
042018-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4709 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77671717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 458
(I458N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000123101]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016771
AA Change: I458N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: I458N
| 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: ENSMUST00000123101
|
| SMART Domains |
Protein: ENSMUSP00000116198
Gene: ENSMUSG00000022443
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Meta Mutation Damage Score |
0.9266 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
97% (77/79) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
A |
17: 36,271,069 (GRCm39) |
T463M |
probably damaging |
Het |
| Arhgap35 |
C |
T |
7: 16,297,511 (GRCm39) |
G518D |
probably damaging |
Het |
| Arhgdia |
A |
G |
11: 120,470,517 (GRCm39) |
Y110H |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,372,604 (GRCm39) |
|
probably null |
Het |
| Bpifb6 |
T |
A |
2: 153,750,436 (GRCm39) |
I309N |
possibly damaging |
Het |
| Cbr4 |
T |
C |
8: 61,943,061 (GRCm39) |
V77A |
possibly damaging |
Het |
| Cers2 |
A |
G |
3: 95,227,534 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,821,120 (GRCm39) |
H145Q |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,073,905 (GRCm39) |
I2030N |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,760,522 (GRCm39) |
|
probably null |
Het |
| Dhodh |
T |
C |
8: 110,328,170 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,982,495 (GRCm39) |
Y2558F |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| En1 |
A |
T |
1: 120,534,872 (GRCm39) |
Y387F |
unknown |
Het |
| Ephb2 |
C |
A |
4: 136,423,363 (GRCm39) |
C305F |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,238,315 (GRCm39) |
V1477A |
probably benign |
Het |
| Gimap3 |
A |
T |
6: 48,742,327 (GRCm39) |
L201Q |
probably benign |
Het |
| Gm10801 |
T |
G |
2: 98,494,246 (GRCm39) |
|
probably null |
Het |
| Grhl1 |
A |
G |
12: 24,636,132 (GRCm39) |
I283V |
possibly damaging |
Het |
| Grid2ip |
T |
A |
5: 143,374,658 (GRCm39) |
L926H |
probably damaging |
Het |
| Gtf2h2 |
G |
T |
13: 100,605,523 (GRCm39) |
C82* |
probably null |
Het |
| Gtf2ird1 |
T |
C |
5: 134,433,588 (GRCm39) |
T280A |
probably benign |
Het |
| Gzmd |
T |
C |
14: 56,367,698 (GRCm39) |
I192V |
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,834,695 (GRCm39) |
V855A |
possibly damaging |
Het |
| Hey1 |
A |
G |
3: 8,730,963 (GRCm39) |
|
probably benign |
Het |
| Hpx |
A |
G |
7: 105,249,243 (GRCm39) |
S19P |
probably benign |
Het |
| Incenp |
G |
A |
19: 9,853,964 (GRCm39) |
R696W |
unknown |
Het |
| Itgam |
T |
C |
7: 127,700,709 (GRCm39) |
V493A |
probably damaging |
Het |
| Ldlrad3 |
A |
G |
2: 101,900,343 (GRCm39) |
I53T |
probably damaging |
Het |
| Map3k7 |
G |
T |
4: 31,985,700 (GRCm39) |
E208* |
probably null |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nectin3 |
T |
A |
16: 46,284,306 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Nek5 |
A |
T |
8: 22,573,443 (GRCm39) |
N504K |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,424 (GRCm39) |
H108Q |
probably benign |
Het |
| Or10d5 |
A |
T |
9: 39,861,165 (GRCm39) |
L301M |
probably damaging |
Het |
| Or2ak4 |
T |
C |
11: 58,649,013 (GRCm39) |
V174A |
possibly damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,989 (GRCm39) |
I207F |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,458 (GRCm39) |
T137S |
probably benign |
Het |
| Or9a2 |
G |
T |
6: 41,748,442 (GRCm39) |
Q264K |
probably benign |
Het |
| Or9i14 |
T |
A |
19: 13,792,814 (GRCm39) |
I47F |
possibly damaging |
Het |
| Parp6 |
T |
C |
9: 59,549,052 (GRCm39) |
I507T |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,548 (GRCm39) |
T565A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,828,572 (GRCm39) |
N4676D |
unknown |
Het |
| Pdlim1 |
T |
A |
19: 40,211,180 (GRCm39) |
H278L |
probably benign |
Het |
| Pfkfb3 |
G |
A |
2: 11,498,719 (GRCm39) |
T46M |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,067 (GRCm39) |
Y203C |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,311,733 (GRCm39) |
D924G |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,292,031 (GRCm39) |
|
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,217,924 (GRCm39) |
S674P |
possibly damaging |
Het |
| Ranbp6 |
C |
T |
19: 29,788,984 (GRCm39) |
R456Q |
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,819,728 (GRCm39) |
V46E |
probably damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rtn4r |
A |
G |
16: 17,969,046 (GRCm39) |
Y158C |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,731,884 (GRCm39) |
I2352T |
probably damaging |
Het |
| Sbk2 |
G |
T |
7: 4,960,577 (GRCm39) |
R198S |
possibly damaging |
Het |
| Scube3 |
G |
A |
17: 28,386,166 (GRCm39) |
|
probably null |
Het |
| Slc45a1 |
G |
A |
4: 150,722,697 (GRCm39) |
P396S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,087,861 (GRCm39) |
D418G |
probably null |
Het |
| Smarcad1 |
A |
G |
6: 65,052,099 (GRCm39) |
T411A |
probably benign |
Het |
| Smtn |
G |
A |
11: 3,474,663 (GRCm39) |
S716F |
probably damaging |
Het |
| Stag1 |
G |
T |
9: 100,620,092 (GRCm39) |
R65L |
probably damaging |
Het |
| Stat1 |
A |
T |
1: 52,165,680 (GRCm39) |
D92V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,582,428 (GRCm39) |
Y22822H |
probably damaging |
Het |
| Vmn1r172 |
A |
G |
7: 23,359,606 (GRCm39) |
T164A |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,860 (GRCm39) |
D217E |
probably damaging |
Het |
| Vmn2r26 |
A |
G |
6: 124,030,924 (GRCm39) |
E553G |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,803,088 (GRCm39) |
F333L |
probably benign |
Het |
| Ypel5 |
G |
A |
17: 73,155,726 (GRCm39) |
R98H |
probably benign |
Het |
| Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
probably damaging |
Het |
| Zyg11a |
T |
C |
4: 108,062,268 (GRCm39) |
S176G |
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 |
|
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'- CCAGGAGCTTGACCTCAAAG -3'
(R):5'- TAACCTTCATGTCCCCGGATG -3'
Sequencing Primer
(F):5'- GAGCTTGACCTCAAAGGCCAG -3'
(R):5'- CGGATGTCGTTCCTAGGCTGAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation