Incidental Mutation 'R4631:Myh9'
| ID |
386403 |
| 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 |
041896-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4631 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 77681228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 164
(D164A)
|
| 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: D164A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: D164A
| 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: ENSMUST00000124844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129453
|
| Meta Mutation Damage Score |
0.7077 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (84/84) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,270 (GRCm39) |
L368Q |
probably damaging |
Het |
| Abcc2 |
C |
T |
19: 43,803,146 (GRCm39) |
P661S |
possibly damaging |
Het |
| Adgre4 |
T |
G |
17: 56,121,305 (GRCm39) |
M457R |
probably null |
Het |
| Ank |
C |
A |
15: 27,467,176 (GRCm39) |
F29L |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,751,653 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
T |
C |
1: 170,574,766 (GRCm39) |
|
probably null |
Het |
| Bhmt1b |
G |
A |
18: 87,774,525 (GRCm39) |
R16H |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,975,078 (GRCm39) |
F2079L |
probably damaging |
Het |
| Cd163 |
T |
C |
6: 124,306,045 (GRCm39) |
*1122Q |
probably null |
Het |
| Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,926,697 (GRCm39) |
Y558H |
probably benign |
Het |
| Ctsm |
T |
A |
13: 61,685,510 (GRCm39) |
S301C |
probably null |
Het |
| Dlc1 |
A |
C |
8: 37,404,712 (GRCm39) |
|
probably null |
Het |
| Dlg2 |
A |
T |
7: 91,737,822 (GRCm39) |
I435F |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,402,099 (GRCm39) |
V3420A |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,420,140 (GRCm39) |
Y3813N |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,067,616 (GRCm39) |
M1181T |
probably damaging |
Het |
| Drc3 |
C |
A |
11: 60,255,734 (GRCm39) |
T107N |
probably benign |
Het |
| Dydc2 |
T |
C |
14: 40,771,286 (GRCm39) |
E131G |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,080,828 (GRCm39) |
V723A |
probably damaging |
Het |
| Fndc9 |
C |
A |
11: 46,128,675 (GRCm39) |
H65N |
possibly damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
| Gps1 |
T |
A |
11: 120,679,065 (GRCm39) |
|
probably null |
Het |
| Gvin3 |
A |
G |
7: 106,198,730 (GRCm39) |
|
noncoding transcript |
Het |
| Kazn |
G |
A |
4: 141,845,471 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnip1 |
T |
A |
11: 33,942,821 (GRCm39) |
|
noncoding transcript |
Het |
| Kif19a |
A |
G |
11: 114,675,673 (GRCm39) |
I382V |
possibly damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Malsu1 |
A |
T |
6: 49,061,467 (GRCm39) |
E177V |
probably damaging |
Het |
| Man2a2 |
A |
G |
7: 80,012,211 (GRCm39) |
F649L |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,941 (GRCm39) |
I223V |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myo16 |
T |
C |
8: 10,556,984 (GRCm39) |
I1040T |
probably damaging |
Het |
| Myo18b |
C |
T |
5: 112,994,266 (GRCm39) |
A896T |
probably damaging |
Het |
| Myocd |
G |
T |
11: 65,069,685 (GRCm39) |
N798K |
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,563 (GRCm39) |
D266G |
probably benign |
Het |
| Or1n1b |
T |
G |
2: 36,780,630 (GRCm39) |
T77P |
probably benign |
Het |
| Or2l13b |
G |
A |
16: 19,348,891 (GRCm39) |
R260* |
probably null |
Het |
| Or4c11 |
C |
T |
2: 88,695,174 (GRCm39) |
T75I |
probably benign |
Het |
| Or4g7 |
T |
A |
2: 111,309,908 (GRCm39) |
W260R |
probably damaging |
Het |
| Or52a5 |
A |
T |
7: 103,426,682 (GRCm39) |
L290Q |
probably damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,636 (GRCm39) |
I11F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,890 (GRCm39) |
I142F |
probably damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,366,212 (GRCm39) |
E334G |
possibly damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,366,125 (GRCm39) |
D363G |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,263,290 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
T |
G |
10: 13,003,743 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 4,906,537 (GRCm39) |
D364G |
possibly damaging |
Het |
| Rab2b |
T |
A |
14: 52,503,699 (GRCm39) |
H141L |
possibly damaging |
Het |
| Rev3l |
A |
G |
10: 39,704,412 (GRCm39) |
K279E |
probably benign |
Het |
| Rnf111 |
G |
T |
9: 70,357,678 (GRCm39) |
T607N |
probably benign |
Het |
| Scn8a |
C |
A |
15: 100,914,384 (GRCm39) |
S1130* |
probably null |
Het |
| Selenbp1 |
A |
G |
3: 94,851,879 (GRCm39) |
*473W |
probably null |
Het |
| Sh3bp4 |
A |
C |
1: 89,071,995 (GRCm39) |
D281A |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,486,314 (GRCm39) |
|
probably null |
Het |
| Slc1a4 |
A |
G |
11: 20,258,452 (GRCm39) |
L249P |
probably damaging |
Het |
| Slc45a2 |
T |
A |
15: 11,012,662 (GRCm39) |
S222T |
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,392,255 (GRCm39) |
F393S |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,801,078 (GRCm39) |
D536V |
possibly damaging |
Het |
| Stra6 |
T |
A |
9: 58,048,115 (GRCm39) |
|
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,007,250 (GRCm39) |
D156G |
probably benign |
Het |
| Tns3 |
A |
C |
11: 8,401,119 (GRCm39) |
F1060V |
probably benign |
Het |
| Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 21,000,865 (GRCm39) |
S273P |
probably benign |
Het |
| Trmt11 |
A |
G |
10: 30,435,200 (GRCm39) |
S320P |
probably benign |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,980 (GRCm39) |
Y262F |
probably benign |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,758 (GRCm39) |
C192Y |
probably benign |
Het |
| Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,962 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,646,278 (GRCm39) |
H1461Y |
possibly damaging |
Het |
| Ythdc2 |
A |
T |
18: 45,020,698 (GRCm39) |
E1427D |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,586,482 (GRCm39) |
V285E |
probably damaging |
Het |
| Zbtb26 |
A |
G |
2: 37,326,968 (GRCm39) |
F23L |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,108,632 (GRCm39) |
*908R |
probably null |
Het |
| Zfp975 |
A |
T |
7: 42,312,369 (GRCm39) |
N81K |
probably benign |
Het |
| Zkscan16 |
G |
A |
4: 58,951,918 (GRCm39) |
V198M |
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 |
|
|
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'- GTGAATGTGCTCAAACCCAG -3'
(R):5'- TGTAGGTGTCCCTCATCTGAG -3'
Sequencing Primer
(F):5'- GCACACACATGCACGCG -3'
(R):5'- ATCTGAGGCTGTCCACAGTC -3'
|
| Posted On |
2016-05-24 |
Incidental Mutation