Incidental Mutation 'R7055:Myh9'
| ID |
547883 |
| 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 |
045152-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7055 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77659398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 116
(R116H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000231192]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016771
AA Change: R905H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: R905H
| 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 damaging
Transcript: ENSMUST00000231192
AA Change: R116H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,062,083 (GRCm39) |
S178P |
probably damaging |
Het |
| 2610008E11Rik |
C |
T |
10: 78,903,681 (GRCm39) |
E212K |
probably damaging |
Het |
| Abcc4 |
A |
T |
14: 118,832,197 (GRCm39) |
L736* |
probably null |
Het |
| Acmsd |
A |
T |
1: 127,681,570 (GRCm39) |
M178L |
probably benign |
Het |
| Adpgk |
T |
A |
9: 59,220,476 (GRCm39) |
M266K |
possibly damaging |
Het |
| Aldh1b1 |
G |
A |
4: 45,802,909 (GRCm39) |
R149H |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,338,927 (GRCm39) |
T307A |
probably benign |
Het |
| C1galt1 |
T |
C |
6: 7,866,585 (GRCm39) |
Y144H |
probably damaging |
Het |
| Cabin1 |
G |
C |
10: 75,579,117 (GRCm39) |
Q440E |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,049,561 (GRCm39) |
S231G |
probably damaging |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,558,342 (GRCm39) |
I490T |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,702,149 (GRCm39) |
V314E |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,496,757 (GRCm39) |
E413G |
unknown |
Het |
| Cyp3a25 |
A |
C |
5: 145,929,801 (GRCm39) |
F189L |
probably benign |
Het |
| Dido1 |
T |
A |
2: 180,303,002 (GRCm39) |
H1634L |
probably benign |
Het |
| Dnaja2 |
A |
C |
8: 86,275,303 (GRCm39) |
V156G |
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,290,291 (GRCm39) |
|
probably null |
Het |
| Eomes |
A |
T |
9: 118,309,567 (GRCm39) |
N240I |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,229 (GRCm39) |
F199L |
probably benign |
Het |
| Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
| Fndc4 |
T |
C |
5: 31,451,522 (GRCm39) |
E153G |
probably benign |
Het |
| Fv1 |
TTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTC |
4: 147,954,775 (GRCm39) |
|
probably null |
Het |
| Fzr1 |
T |
C |
10: 81,206,057 (GRCm39) |
Y210C |
probably damaging |
Het |
| Gjc2 |
T |
A |
11: 59,067,856 (GRCm39) |
M209L |
unknown |
Het |
| Gpr33 |
A |
G |
12: 52,071,036 (GRCm39) |
M1T |
probably null |
Het |
| Gtf2a1 |
A |
T |
12: 91,553,523 (GRCm39) |
I28N |
possibly damaging |
Het |
| Igf2r |
A |
C |
17: 12,923,210 (GRCm39) |
Y1200D |
probably damaging |
Het |
| Ivd |
C |
T |
2: 118,703,730 (GRCm39) |
T212I |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,957,409 (GRCm39) |
V101A |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,404,701 (GRCm39) |
V83D |
possibly damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,006 (GRCm39) |
I249F |
probably benign |
Het |
| Krtap21-1 |
G |
A |
16: 89,200,591 (GRCm39) |
S17L |
unknown |
Het |
| Macf1 |
A |
T |
4: 123,302,989 (GRCm39) |
H504Q |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,455,983 (GRCm39) |
T1499A |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,770,982 (GRCm39) |
T892A |
probably damaging |
Het |
| Mcl1 |
G |
A |
3: 95,567,110 (GRCm39) |
V178I |
probably benign |
Het |
| Mrs2 |
T |
A |
13: 25,188,937 (GRCm39) |
M126L |
probably benign |
Het |
| Msantd1 |
C |
A |
5: 35,075,005 (GRCm39) |
N9K |
probably benign |
Het |
| Nfib |
A |
T |
4: 82,248,662 (GRCm39) |
D308E |
probably benign |
Het |
| Nme2 |
T |
A |
11: 93,846,416 (GRCm39) |
I11F |
probably damaging |
Het |
| Nmnat3 |
A |
G |
9: 98,292,286 (GRCm39) |
D111G |
probably benign |
Het |
| Or5d37 |
T |
A |
2: 87,924,045 (GRCm39) |
L78F |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,641,827 (GRCm39) |
W501R |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,443,998 (GRCm39) |
I384T |
possibly damaging |
Het |
| Pcdhb18 |
A |
G |
18: 37,623,864 (GRCm39) |
D398G |
possibly damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,465,771 (GRCm39) |
N102D |
probably benign |
Het |
| Pdzrn3 |
C |
A |
6: 101,128,735 (GRCm39) |
E644* |
probably null |
Het |
| Pi4ka |
T |
A |
16: 17,134,879 (GRCm39) |
|
probably benign |
Het |
| Polg2 |
A |
G |
11: 106,668,040 (GRCm39) |
F216L |
probably damaging |
Het |
| Prkcsh |
A |
G |
9: 21,924,457 (GRCm39) |
*522W |
probably null |
Het |
| Prkcz |
G |
T |
4: 155,374,091 (GRCm39) |
D108E |
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,748,465 (GRCm39) |
V646A |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,017,309 (GRCm39) |
I483T |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,044,485 (GRCm39) |
I527T |
possibly damaging |
Het |
| Rad50 |
T |
C |
11: 53,578,929 (GRCm39) |
K543R |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,103,458 (GRCm39) |
I553T |
probably benign |
Het |
| Sbpl |
A |
T |
17: 24,172,276 (GRCm39) |
N214K |
unknown |
Het |
| Scgb2b11 |
C |
T |
7: 31,909,907 (GRCm39) |
E60K |
possibly damaging |
Het |
| Sgk3 |
G |
A |
1: 9,956,284 (GRCm39) |
E331K |
probably damaging |
Het |
| Snx6 |
A |
T |
12: 54,830,864 (GRCm39) |
L32Q |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,723,924 (GRCm39) |
Q512L |
probably damaging |
Het |
| Srsf12 |
A |
G |
4: 33,226,157 (GRCm39) |
D135G |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,026,858 (GRCm39) |
T274A |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,064,275 (GRCm39) |
V3236D |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,120,642 (GRCm39) |
F797Y |
probably benign |
Het |
| Tmem116 |
T |
C |
5: 121,605,987 (GRCm39) |
L113P |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,951,457 (GRCm39) |
V161A |
probably damaging |
Het |
| Tnpo1 |
G |
T |
13: 98,991,987 (GRCm39) |
Q622K |
possibly damaging |
Het |
| Top1mt |
A |
G |
15: 75,550,523 (GRCm39) |
V28A |
probably benign |
Het |
| Trim25 |
T |
C |
11: 88,890,750 (GRCm39) |
S146P |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,566,935 (GRCm39) |
D392G |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,623,665 (GRCm39) |
R191Q |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdfy2 |
T |
A |
14: 63,137,748 (GRCm39) |
S84T |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,895,832 (GRCm39) |
F225I |
probably 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 |
|
R6248:Myh9
|
UTSW |
15 |
77,669,422 (GRCm39) |
nonsense |
probably null |
|
|
R6648:Myh9
|
UTSW |
15 |
77,650,972 (GRCm39) |
missense |
probably benign |
0.08 |
|
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'- CTGAACCTGTGTGCCTATCTTG -3'
(R):5'- TCAGCAGCTAACAGTGCCAG -3'
Sequencing Primer
(F):5'- GCCTATCTTGTGCCCCTGG -3'
(R):5'- CTTAGCCTTTGCACGTGT -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation