Incidental Mutation 'R1635:Myh9'
ID |
173115 |
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1635 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77660099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 56
(D56E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155562
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000231192]
|
AlphaFold |
Q8VDD5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016771
AA Change: D845E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000016771 Gene: ENSMUSG00000022443 AA Change: D845E
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
AA Change: D56E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.9%
|
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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
T |
2: 25,334,868 (GRCm39) |
I1947F |
probably benign |
Het |
Adgrd1 |
G |
T |
5: 129,205,971 (GRCm39) |
V182F |
probably damaging |
Het |
Agmat |
A |
G |
4: 141,474,380 (GRCm39) |
D87G |
probably damaging |
Het |
AI182371 |
T |
C |
2: 34,978,749 (GRCm39) |
|
probably null |
Het |
Anapc1 |
G |
T |
2: 128,470,452 (GRCm39) |
H1559Q |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,689,297 (GRCm39) |
Y1278C |
probably damaging |
Het |
Arhgef2 |
A |
T |
3: 88,546,628 (GRCm39) |
|
probably null |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Banp |
A |
T |
8: 122,727,750 (GRCm39) |
I130F |
probably damaging |
Het |
C130050O18Rik |
G |
T |
5: 139,400,248 (GRCm39) |
R100S |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,733,739 (GRCm39) |
T374A |
possibly damaging |
Het |
Cc2d2a |
T |
A |
5: 43,879,812 (GRCm39) |
W1076R |
probably damaging |
Het |
Cdc34 |
T |
G |
10: 79,523,888 (GRCm39) |
S235A |
probably benign |
Het |
Cdh8 |
G |
T |
8: 99,757,656 (GRCm39) |
H647Q |
probably damaging |
Het |
Cdk1 |
A |
T |
10: 69,174,377 (GRCm39) |
L282Q |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,893,902 (GRCm39) |
D471G |
probably damaging |
Het |
Ciao2b |
A |
T |
8: 105,367,620 (GRCm39) |
I108N |
possibly damaging |
Het |
Cltc |
A |
T |
11: 86,648,105 (GRCm39) |
I4N |
probably benign |
Het |
Cntfr |
T |
A |
4: 41,658,816 (GRCm39) |
E305V |
probably damaging |
Het |
Cwh43 |
T |
A |
5: 73,591,653 (GRCm39) |
I496N |
probably damaging |
Het |
Cyp2f2 |
A |
G |
7: 26,829,149 (GRCm39) |
N218S |
probably benign |
Het |
D16Ertd472e |
A |
G |
16: 78,343,392 (GRCm39) |
|
probably null |
Het |
Dab2 |
A |
G |
15: 6,459,351 (GRCm39) |
Q400R |
possibly damaging |
Het |
Dapl1 |
A |
T |
2: 59,326,906 (GRCm39) |
I51F |
probably benign |
Het |
Drc7 |
G |
A |
8: 95,800,960 (GRCm39) |
|
probably null |
Het |
Etl4 |
A |
G |
2: 20,811,219 (GRCm39) |
T1101A |
probably damaging |
Het |
Fam83c |
C |
A |
2: 155,671,971 (GRCm39) |
R488M |
possibly damaging |
Het |
Fbxo42 |
A |
G |
4: 140,927,840 (GRCm39) |
T707A |
probably damaging |
Het |
Fcmr |
A |
T |
1: 130,803,922 (GRCm39) |
|
probably null |
Het |
Fer1l6 |
G |
C |
15: 58,518,930 (GRCm39) |
K1687N |
probably damaging |
Het |
Fgd4 |
G |
A |
16: 16,292,893 (GRCm39) |
R275* |
probably null |
Het |
Fxr2 |
G |
A |
11: 69,532,139 (GRCm39) |
C87Y |
possibly damaging |
Het |
Gja4 |
A |
T |
4: 127,206,472 (GRCm39) |
I97N |
probably damaging |
Het |
Gm136 |
A |
G |
4: 34,750,919 (GRCm39) |
|
probably null |
Het |
Gm14496 |
A |
G |
2: 181,642,837 (GRCm39) |
D836G |
possibly damaging |
Het |
Grm3 |
T |
A |
5: 9,561,520 (GRCm39) |
T777S |
probably damaging |
Het |
Guca2b |
A |
G |
4: 119,514,912 (GRCm39) |
Y50H |
probably damaging |
Het |
Herc2 |
C |
T |
7: 55,786,415 (GRCm39) |
P1587S |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,545,309 (GRCm39) |
S2766N |
probably benign |
Het |
Idi2 |
T |
A |
13: 9,009,455 (GRCm39) |
I224K |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,735,666 (GRCm39) |
|
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,440,078 (GRCm39) |
M693L |
possibly damaging |
Het |
Megf8 |
G |
T |
7: 25,046,172 (GRCm39) |
M1525I |
possibly damaging |
Het |
Mgme1 |
T |
C |
2: 144,121,018 (GRCm39) |
V276A |
possibly damaging |
Het |
Mief2 |
G |
T |
11: 60,622,234 (GRCm39) |
W268L |
probably damaging |
Het |
Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
Mreg |
T |
C |
1: 72,231,356 (GRCm39) |
N34S |
probably benign |
Het |
Myf6 |
T |
C |
10: 107,330,534 (GRCm39) |
Y11C |
probably damaging |
Het |
Myo5c |
A |
T |
9: 75,184,357 (GRCm39) |
R949S |
probably benign |
Het |
Ncapg2 |
TAA |
TA |
12: 116,398,305 (GRCm39) |
|
probably null |
Het |
Nfx1 |
T |
A |
4: 40,977,004 (GRCm39) |
V226E |
probably benign |
Het |
Nlrp10 |
T |
A |
7: 108,523,737 (GRCm39) |
K581M |
possibly damaging |
Het |
Nmd3 |
T |
G |
3: 69,647,317 (GRCm39) |
I273S |
probably benign |
Het |
Or4c3 |
A |
T |
2: 89,852,314 (GRCm39) |
I32N |
possibly damaging |
Het |
P4hb |
T |
C |
11: 120,462,442 (GRCm39) |
E88G |
probably damaging |
Het |
Pcnx3 |
A |
T |
19: 5,715,773 (GRCm39) |
H1444Q |
probably benign |
Het |
Pdia4 |
A |
T |
6: 47,776,133 (GRCm39) |
F421L |
possibly damaging |
Het |
Picalm |
T |
A |
7: 89,840,459 (GRCm39) |
S538T |
probably damaging |
Het |
Ppp2r2b |
T |
A |
18: 43,192,275 (GRCm39) |
I11F |
probably benign |
Het |
Prb1c |
A |
G |
6: 132,339,969 (GRCm39) |
|
probably null |
Het |
Ptk7 |
C |
T |
17: 46,884,460 (GRCm39) |
E757K |
possibly damaging |
Het |
Rbm22 |
T |
G |
18: 60,694,340 (GRCm39) |
C24W |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,682,658 (GRCm39) |
D288G |
probably damaging |
Het |
Rgs18 |
T |
A |
1: 144,629,791 (GRCm39) |
H156L |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,333,405 (GRCm39) |
I2871M |
probably damaging |
Het |
Rrm2b |
A |
T |
15: 37,945,328 (GRCm39) |
M137K |
probably damaging |
Het |
Rrp12 |
A |
T |
19: 41,857,224 (GRCm39) |
D1183E |
probably benign |
Het |
Sacs |
G |
A |
14: 61,441,277 (GRCm39) |
V1108M |
probably damaging |
Het |
Scube2 |
A |
T |
7: 109,442,421 (GRCm39) |
D270E |
possibly damaging |
Het |
Serpina3a |
T |
A |
12: 104,082,737 (GRCm39) |
F170Y |
probably damaging |
Het |
Serpinb3b |
T |
C |
1: 107,082,403 (GRCm39) |
E287G |
probably benign |
Het |
Slamf8 |
C |
T |
1: 172,412,186 (GRCm39) |
V130M |
probably damaging |
Het |
Slc5a3 |
T |
C |
16: 91,874,284 (GRCm39) |
S114P |
possibly damaging |
Het |
Sos1 |
T |
A |
17: 80,730,108 (GRCm39) |
|
probably null |
Het |
Sox10 |
A |
T |
15: 79,040,660 (GRCm39) |
D293E |
probably damaging |
Het |
Sphk1 |
A |
G |
11: 116,426,596 (GRCm39) |
D177G |
probably damaging |
Het |
Sphkap |
T |
G |
1: 83,256,121 (GRCm39) |
M543L |
probably benign |
Het |
Syt13 |
A |
T |
2: 92,783,760 (GRCm39) |
K343N |
probably damaging |
Het |
Tatdn3 |
A |
G |
1: 190,792,373 (GRCm39) |
M34T |
probably benign |
Het |
Timd4 |
T |
G |
11: 46,732,989 (GRCm39) |
V305G |
possibly damaging |
Het |
Tnnc2 |
T |
C |
2: 164,619,512 (GRCm39) |
I111V |
probably benign |
Het |
Togaram2 |
C |
T |
17: 72,004,846 (GRCm39) |
P301L |
probably benign |
Het |
Trpc3 |
T |
C |
3: 36,694,776 (GRCm39) |
N726S |
probably damaging |
Het |
Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
Ugt1a5 |
T |
A |
1: 88,093,805 (GRCm39) |
|
probably benign |
Het |
Ulk3 |
A |
T |
9: 57,500,443 (GRCm39) |
|
probably null |
Het |
Unc5d |
T |
A |
8: 29,250,777 (GRCm39) |
I297L |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,908,830 (GRCm39) |
I804V |
probably benign |
Het |
Usp22 |
G |
T |
11: 61,052,144 (GRCm39) |
C278* |
probably null |
Het |
Usp53 |
A |
T |
3: 122,727,872 (GRCm39) |
N903K |
probably benign |
Het |
V1rd19 |
T |
C |
7: 23,702,812 (GRCm39) |
F93L |
probably benign |
Het |
Zdbf2 |
T |
A |
1: 63,343,493 (GRCm39) |
V624E |
possibly damaging |
Het |
Zfyve16 |
A |
T |
13: 92,645,528 (GRCm39) |
S1073T |
probably damaging |
Het |
Zkscan8 |
T |
C |
13: 21,710,765 (GRCm39) |
H115R |
possibly damaging |
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 |
77,655,367 (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'- AACTGCTCTCCCACTGGACTTGAC -3'
(R):5'- CCGTGCAGCGTAATTAAGCGAATC -3'
Sequencing Primer
(F):5'- CACTGGACTTGACTGCAAAG -3'
(R):5'- GTTGCATGTTGTACCAGACTGAC -3'
|
Posted On |
2014-04-24 |