Incidental Mutation 'R6248:Myh9'
ID |
505637 |
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 # |
R6248 (G1)
|
Quality Score |
212.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 77669422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 533
(W533*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000231192]
|
AlphaFold |
Q8VDD5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000016771
AA Change: W533*
|
SMART Domains |
Protein: ENSMUSP00000016771 Gene: ENSMUSG00000022443 AA Change: W533*
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 |
noncoding transcript
Transcript: ENSMUST00000126796
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231192
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (92/92) |
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
T |
C |
1: 159,902,978 (GRCm39) |
S83P |
possibly damaging |
Het |
Actr10 |
A |
T |
12: 70,999,733 (GRCm39) |
E176D |
probably benign |
Het |
Adcy3 |
G |
A |
12: 4,258,662 (GRCm39) |
|
probably null |
Het |
AI429214 |
T |
A |
8: 37,461,278 (GRCm39) |
I142N |
probably damaging |
Het |
Alox12 |
A |
G |
11: 70,143,936 (GRCm39) |
L148S |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,809,680 (GRCm39) |
I1147V |
probably benign |
Het |
Apoc2 |
C |
T |
7: 19,407,493 (GRCm39) |
V12I |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,124,407 (GRCm39) |
S311G |
probably benign |
Het |
Arih2 |
G |
T |
9: 108,488,841 (GRCm39) |
H292Q |
probably damaging |
Het |
Cdc14a |
A |
T |
3: 116,101,843 (GRCm39) |
D312E |
probably benign |
Het |
Cdh12 |
T |
G |
15: 21,237,800 (GRCm39) |
W12G |
possibly damaging |
Het |
Cisd2 |
A |
T |
3: 135,114,616 (GRCm39) |
N118K |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 99,999,827 (GRCm39) |
Q195R |
probably benign |
Het |
Cyp2r1 |
A |
G |
7: 114,161,966 (GRCm39) |
|
probably null |
Het |
Cyp4f37 |
A |
G |
17: 32,848,864 (GRCm39) |
D244G |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dido1 |
T |
A |
2: 180,302,048 (GRCm39) |
H1952L |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,871,283 (GRCm39) |
|
probably null |
Het |
Dnal4 |
T |
A |
15: 79,646,714 (GRCm39) |
M56L |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,581,112 (GRCm39) |
V538A |
probably benign |
Het |
Eps8l2 |
A |
G |
7: 140,922,015 (GRCm39) |
D31G |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,219,479 (GRCm39) |
L112* |
probably null |
Het |
Etl4 |
C |
T |
2: 20,813,900 (GRCm39) |
T1907I |
possibly damaging |
Het |
Exoc3 |
A |
G |
13: 74,330,400 (GRCm39) |
F510L |
probably benign |
Het |
Fam114a2 |
G |
T |
11: 57,383,942 (GRCm39) |
T324K |
possibly damaging |
Het |
Fer1l4 |
G |
A |
2: 155,888,091 (GRCm39) |
R465C |
probably damaging |
Het |
Frmd4b |
A |
C |
6: 97,436,173 (GRCm39) |
S2R |
probably benign |
Het |
Fscn1 |
A |
T |
5: 142,946,778 (GRCm39) |
D192V |
possibly damaging |
Het |
Gm3486 |
T |
A |
14: 41,206,472 (GRCm39) |
*200C |
probably null |
Het |
Gusb |
A |
T |
5: 130,029,366 (GRCm39) |
H138Q |
probably benign |
Het |
Hdac9 |
A |
T |
12: 34,578,293 (GRCm39) |
M4K |
possibly damaging |
Het |
Hhipl1 |
G |
T |
12: 108,284,964 (GRCm39) |
R439L |
probably benign |
Het |
Hoxd9 |
A |
G |
2: 74,528,980 (GRCm39) |
E194G |
probably benign |
Het |
Itgb1 |
A |
G |
8: 129,448,902 (GRCm39) |
S503G |
possibly damaging |
Het |
Kcnt2 |
T |
A |
1: 140,437,216 (GRCm39) |
C500S |
probably damaging |
Het |
Kdm7a |
G |
A |
6: 39,123,983 (GRCm39) |
S727L |
possibly damaging |
Het |
Klhdc4 |
A |
G |
8: 122,540,507 (GRCm39) |
F92L |
probably damaging |
Het |
Klrb1a |
A |
G |
6: 128,596,137 (GRCm39) |
V62A |
probably damaging |
Het |
Krit1 |
A |
G |
5: 3,863,032 (GRCm39) |
|
probably null |
Het |
Krt40 |
A |
G |
11: 99,432,566 (GRCm39) |
I150T |
possibly damaging |
Het |
Larp4b |
A |
G |
13: 9,208,738 (GRCm39) |
T464A |
probably benign |
Het |
Lrrc52 |
T |
G |
1: 167,293,964 (GRCm39) |
D107A |
probably damaging |
Het |
Mapkap1 |
G |
T |
2: 34,408,692 (GRCm39) |
V35F |
probably damaging |
Het |
Mccc1 |
A |
G |
3: 36,044,313 (GRCm39) |
V171A |
probably damaging |
Het |
Metap1d |
A |
T |
2: 71,346,104 (GRCm39) |
R222* |
probably null |
Het |
Mrgpre |
G |
A |
7: 143,334,603 (GRCm39) |
A300V |
probably benign |
Het |
Mterf1b |
C |
A |
5: 4,246,606 (GRCm39) |
N82K |
probably benign |
Het |
Myom2 |
A |
G |
8: 15,148,472 (GRCm39) |
|
probably null |
Het |
Ncor1 |
G |
A |
11: 62,257,808 (GRCm39) |
P329S |
probably damaging |
Het |
Nr2f1 |
T |
C |
13: 78,344,611 (GRCm39) |
|
probably benign |
Het |
Or10x1 |
T |
G |
1: 174,197,236 (GRCm39) |
V251G |
probably benign |
Het |
Or11a4 |
T |
A |
17: 37,536,451 (GRCm39) |
L145* |
probably null |
Het |
Or2a57 |
C |
T |
6: 43,212,838 (GRCm39) |
Q99* |
probably null |
Het |
Or2w6 |
A |
T |
13: 21,843,244 (GRCm39) |
I83N |
possibly damaging |
Het |
Or52p2 |
T |
C |
7: 102,237,237 (GRCm39) |
T238A |
probably benign |
Het |
Or6c210 |
A |
G |
10: 129,496,532 (GRCm39) |
I286V |
probably benign |
Het |
Or6z1 |
A |
T |
7: 6,504,675 (GRCm39) |
C183* |
probably null |
Het |
Pcdha11 |
T |
C |
18: 37,138,950 (GRCm39) |
L193P |
probably benign |
Het |
Pcdhb20 |
T |
A |
18: 37,639,285 (GRCm39) |
F604I |
probably damaging |
Het |
Pde1a |
T |
C |
2: 79,708,545 (GRCm39) |
H291R |
probably damaging |
Het |
Pfkm |
G |
A |
15: 98,024,260 (GRCm39) |
V423M |
probably damaging |
Het |
Pira1 |
C |
A |
7: 3,739,337 (GRCm39) |
E510D |
probably benign |
Het |
Pkd2l1 |
G |
T |
19: 44,146,108 (GRCm39) |
Q149K |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,392,955 (GRCm39) |
N1763K |
probably benign |
Het |
Pla2g4a |
G |
A |
1: 149,748,338 (GRCm39) |
T282I |
probably damaging |
Het |
Prpf39 |
A |
C |
12: 65,089,528 (GRCm39) |
N89H |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,587,537 (GRCm39) |
F743L |
probably damaging |
Het |
Raver2 |
A |
G |
4: 100,991,320 (GRCm39) |
|
probably null |
Het |
Ric8b |
T |
C |
10: 84,783,709 (GRCm39) |
L189P |
probably damaging |
Het |
Sccpdh |
T |
C |
1: 179,495,957 (GRCm39) |
F13L |
probably benign |
Het |
Scd2 |
T |
C |
19: 44,291,448 (GRCm39) |
F296L |
probably damaging |
Het |
Scg2 |
G |
T |
1: 79,414,023 (GRCm39) |
D233E |
probably benign |
Het |
Sema5b |
C |
A |
16: 35,448,377 (GRCm39) |
|
probably null |
Het |
Skint5 |
A |
T |
4: 113,636,286 (GRCm39) |
V644E |
unknown |
Het |
Slc44a5 |
G |
T |
3: 153,969,678 (GRCm39) |
V612F |
possibly damaging |
Het |
Snd1 |
C |
T |
6: 28,520,234 (GRCm39) |
R107* |
probably null |
Het |
Sun5 |
G |
T |
2: 153,702,589 (GRCm39) |
T189K |
probably damaging |
Het |
Tap1 |
A |
T |
17: 34,412,151 (GRCm39) |
E452V |
probably damaging |
Het |
Tcam1 |
A |
G |
11: 106,173,652 (GRCm39) |
N32S |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,067,715 (GRCm39) |
E2167G |
probably damaging |
Het |
Tm9sf1 |
C |
T |
14: 55,873,827 (GRCm39) |
R557H |
probably damaging |
Het |
Tmem175 |
T |
C |
5: 108,793,821 (GRCm39) |
V317A |
probably damaging |
Het |
Tsga13 |
A |
G |
6: 30,874,139 (GRCm39) |
V231A |
probably benign |
Het |
Tspan12 |
A |
G |
6: 21,799,970 (GRCm39) |
S126P |
probably damaging |
Het |
Uvrag |
G |
T |
7: 98,637,398 (GRCm39) |
D143E |
probably damaging |
Het |
Vmn1r230 |
T |
A |
17: 21,067,036 (GRCm39) |
M75K |
possibly damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,852,287 (GRCm39) |
F10I |
probably benign |
Het |
Vmn2r57 |
T |
C |
7: 41,049,284 (GRCm39) |
T822A |
probably benign |
Het |
Vmn2r67 |
T |
C |
7: 84,799,768 (GRCm39) |
Y490C |
probably damaging |
Het |
Zc3h7b |
T |
A |
15: 81,667,386 (GRCm39) |
W644R |
probably damaging |
Het |
Zeb1 |
A |
G |
18: 5,766,962 (GRCm39) |
D491G |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
A |
T |
2: 174,486,308 (GRCm39) |
T328S |
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 |
77,660,099 (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 |
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'- CATTAAGACCTCTGCCTGGG -3'
(R):5'- CAGAGGCGTCTTAAAACAGAGTTC -3'
Sequencing Primer
(F):5'- CTCTGCCTGGGCCACAC -3'
(R):5'- ATGCAGTTCCTGATCTCAGTGACAG -3'
|
Posted On |
2018-02-28 |