Incidental Mutation 'R7417:Myh9'
| ID |
575409 |
| 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 |
045495-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7417 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 77648065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 1804
(K1804*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000016771
AA Change: K1804*
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: K1804*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (79/79) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
G |
A |
17: 48,460,057 (GRCm39) |
T213I |
probably damaging |
Het |
| Akr1b7 |
G |
A |
6: 34,394,300 (GRCm39) |
|
probably null |
Het |
| Aldh6a1 |
T |
C |
12: 84,488,556 (GRCm39) |
Q110R |
probably benign |
Het |
| Alg11 |
A |
T |
8: 22,552,044 (GRCm39) |
T63S |
probably benign |
Het |
| Ankrd13b |
A |
G |
11: 77,367,020 (GRCm39) |
Y271H |
probably damaging |
Het |
| Ano8 |
T |
A |
8: 71,933,477 (GRCm39) |
D605V |
unknown |
Het |
| Best2 |
C |
T |
8: 85,736,295 (GRCm39) |
|
probably null |
Het |
| Brca1 |
A |
G |
11: 101,415,807 (GRCm39) |
S776P |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,092,663 (GRCm39) |
Y737H |
probably damaging |
Het |
| Cblc |
A |
T |
7: 19,522,899 (GRCm39) |
S333T |
probably benign |
Het |
| Ccm2 |
T |
A |
11: 6,543,091 (GRCm39) |
M257K |
probably benign |
Het |
| Cd320 |
T |
A |
17: 34,066,530 (GRCm39) |
C103* |
probably null |
Het |
| Cd53 |
A |
G |
3: 106,676,235 (GRCm39) |
F44S |
probably benign |
Het |
| Col9a2 |
G |
A |
4: 120,911,489 (GRCm39) |
R610H |
not run |
Het |
| Cubn |
T |
C |
2: 13,431,778 (GRCm39) |
I1272V |
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,090,225 (GRCm39) |
|
probably null |
Het |
| Dmrt2 |
A |
T |
19: 25,655,962 (GRCm39) |
R520S |
probably benign |
Het |
| Dnai3 |
A |
T |
3: 145,798,835 (GRCm39) |
|
probably null |
Het |
| Drg2 |
A |
G |
11: 60,345,506 (GRCm39) |
M1V |
probably null |
Het |
| Ect2 |
A |
G |
3: 27,152,568 (GRCm39) |
S908P |
probably damaging |
Het |
| Eipr1 |
A |
G |
12: 28,916,954 (GRCm39) |
T341A |
probably benign |
Het |
| Ell3 |
A |
C |
2: 121,270,891 (GRCm39) |
I214R |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,264,693 (GRCm39) |
L568Q |
probably damaging |
Het |
| Foxd4 |
T |
C |
19: 24,877,826 (GRCm39) |
T125A |
probably damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
| Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
| Gcsam |
C |
A |
16: 45,440,240 (GRCm39) |
H94Q |
probably damaging |
Het |
| Ginm1 |
T |
A |
10: 7,649,844 (GRCm39) |
I150F |
probably damaging |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Hk2 |
G |
A |
6: 82,720,326 (GRCm39) |
A205V |
probably damaging |
Het |
| Il3ra |
A |
T |
14: 14,349,345 (GRCm38) |
H147L |
probably benign |
Het |
| Map3k6 |
T |
A |
4: 132,975,707 (GRCm39) |
S732T |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,690,178 (GRCm39) |
E229G |
probably benign |
Het |
| Mccc2 |
A |
G |
13: 100,108,285 (GRCm39) |
|
probably null |
Het |
| Mia3 |
A |
G |
1: 183,108,508 (GRCm39) |
V359A |
|
Het |
| Mob1a |
A |
T |
6: 83,309,492 (GRCm39) |
T80S |
probably benign |
Het |
| Msantd2 |
G |
A |
9: 37,434,590 (GRCm39) |
G478S |
probably damaging |
Het |
| Mtf1 |
A |
G |
4: 124,718,974 (GRCm39) |
E329G |
probably null |
Het |
| Ndst3 |
A |
G |
3: 123,465,313 (GRCm39) |
W220R |
probably damaging |
Het |
| Nln |
A |
G |
13: 104,173,478 (GRCm39) |
L576P |
probably damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,753,483 (GRCm39) |
M300T |
probably benign |
Het |
| Obscn |
G |
T |
11: 59,020,403 (GRCm39) |
D880E |
possibly damaging |
Het |
| Oprd1 |
T |
C |
4: 131,844,763 (GRCm39) |
T82A |
probably damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,183 (GRCm39) |
I45N |
probably damaging |
Het |
| Or4f60 |
A |
C |
2: 111,902,445 (GRCm39) |
V161G |
probably benign |
Het |
| Orc3 |
A |
G |
4: 34,595,136 (GRCm39) |
C278R |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 109,769,322 (GRCm39) |
|
probably null |
Het |
| Pms1 |
T |
C |
1: 53,236,231 (GRCm39) |
E683G |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,905,869 (GRCm39) |
Y73N |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,932,740 (GRCm39) |
Q36R |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,456,891 (GRCm39) |
E258G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,069,369 (GRCm39) |
D1566G |
probably damaging |
Het |
| Rfwd3 |
T |
A |
8: 111,999,701 (GRCm39) |
Y759F |
probably benign |
Het |
| Ripor2 |
A |
G |
13: 24,880,533 (GRCm39) |
D411G |
probably damaging |
Het |
| Ryr2 |
A |
C |
13: 11,571,634 (GRCm39) |
|
probably null |
Het |
| Sdr42e1 |
T |
C |
8: 118,389,490 (GRCm39) |
T384A |
probably benign |
Het |
| Sec1 |
A |
T |
7: 45,334,149 (GRCm39) |
|
probably null |
Het |
| Sec16a |
A |
T |
2: 26,311,409 (GRCm39) |
F616I |
|
Het |
| Sipa1l2 |
T |
C |
8: 126,208,845 (GRCm39) |
D521G |
possibly damaging |
Het |
| Smc1b |
T |
A |
15: 84,981,743 (GRCm39) |
Q759L |
probably benign |
Het |
| Snph |
A |
T |
2: 151,442,263 (GRCm39) |
S57R |
probably damaging |
Het |
| Sqor |
A |
T |
2: 122,629,450 (GRCm39) |
T103S |
probably benign |
Het |
| Srbd1 |
A |
G |
17: 86,443,749 (GRCm39) |
V159A |
probably benign |
Het |
| Srsf2 |
A |
T |
11: 116,743,727 (GRCm39) |
V10E |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,863,316 (GRCm39) |
|
probably null |
Het |
| Synm |
A |
C |
7: 67,382,954 (GRCm39) |
*675G |
probably null |
Het |
| Tek |
A |
G |
4: 94,699,582 (GRCm39) |
E320G |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,689,218 (GRCm39) |
D2123G |
probably damaging |
Het |
| Tmod4 |
A |
G |
3: 95,033,174 (GRCm39) |
K56R |
possibly damaging |
Het |
| Top3b |
G |
A |
16: 16,695,714 (GRCm39) |
|
probably benign |
Het |
| Tssc4 |
G |
T |
7: 142,624,425 (GRCm39) |
E244D |
possibly damaging |
Het |
| Twnk |
G |
A |
19: 44,999,003 (GRCm39) |
|
probably null |
Het |
| Ube4a |
A |
C |
9: 44,868,011 (GRCm39) |
I45S |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,055,017 (GRCm39) |
M954L |
possibly damaging |
Het |
| Vcpip1 |
A |
T |
1: 9,816,540 (GRCm39) |
D614E |
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,035 (GRCm39) |
I312L |
probably benign |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,611 (GRCm39) |
Y129C |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,992,834 (GRCm39) |
L600P |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,412,232 (GRCm39) |
T114A |
probably benign |
Het |
| Zrsr2-ps1 |
T |
C |
11: 22,924,662 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GTTCTGGAAGTGGCCTATGC -3'
(R):5'- CCAACCTTCCTTGAGGTACC -3'
Sequencing Primer
(F):5'- ACGTACTTCTCAGAGCAAGTG -3'
(R):5'- AACCTTCCTTGAGGTACCGTACTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation