Incidental Mutation 'R2010:Myh9'
| ID |
219566 |
| 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 |
040019-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2010 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77656147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1121
(E1121G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000231192]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016771
AA Change: E1121G
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: E1121G
| 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: ENSMUST00000139729
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229259
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231192
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
G |
A |
3: 36,535,955 (GRCm39) |
G74S |
unknown |
Het |
| Aimp1 |
A |
T |
3: 132,373,253 (GRCm39) |
L229Q |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,344,865 (GRCm39) |
T52A |
possibly damaging |
Het |
| Aste1 |
C |
A |
9: 105,280,701 (GRCm39) |
H25Q |
probably damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,244,010 (GRCm39) |
G36R |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,163,604 (GRCm39) |
V634A |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 36,982,700 (GRCm39) |
N788K |
probably benign |
Het |
| C1s1 |
A |
T |
6: 124,514,353 (GRCm39) |
Y168N |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,202,606 (GRCm39) |
S612G |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,150,006 (GRCm39) |
R2611L |
probably damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,511,021 (GRCm38) |
F464L |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,334,344 (GRCm39) |
Y885H |
probably damaging |
Het |
| Dhrs3 |
C |
T |
4: 144,653,758 (GRCm39) |
T227I |
possibly damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,184 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,694,400 (GRCm39) |
M1L |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,769,311 (GRCm39) |
I664T |
probably benign |
Het |
| Eif4e |
C |
T |
3: 138,261,219 (GRCm39) |
T171I |
probably benign |
Het |
| Elfn1 |
C |
T |
5: 139,959,071 (GRCm39) |
R692W |
probably damaging |
Het |
| Eps8l3 |
T |
A |
3: 107,786,688 (GRCm39) |
M1K |
probably null |
Het |
| Evi5 |
C |
A |
5: 107,961,411 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
A |
T |
6: 113,570,252 (GRCm39) |
D1401V |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,144,653 (GRCm39) |
R4074C |
probably damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,412,765 (GRCm39) |
V55E |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,373,329 (GRCm39) |
D180G |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,220,489 (GRCm39) |
F126S |
possibly damaging |
Het |
| Gdf7 |
C |
T |
12: 8,351,729 (GRCm39) |
V69M |
unknown |
Het |
| Glis2 |
A |
G |
16: 4,426,575 (GRCm39) |
E22G |
probably damaging |
Het |
| H2bc3 |
G |
A |
13: 23,931,111 (GRCm39) |
V112M |
possibly damaging |
Het |
| Hps4 |
T |
A |
5: 112,517,342 (GRCm39) |
V243E |
probably damaging |
Het |
| Ighe |
T |
A |
12: 113,235,108 (GRCm39) |
I351F |
unknown |
Het |
| Irak4 |
A |
T |
15: 94,449,687 (GRCm39) |
R55S |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,129,022 (GRCm39) |
|
probably null |
Het |
| Katnip |
A |
G |
7: 125,472,128 (GRCm39) |
I1544M |
possibly damaging |
Het |
| Kirrel3 |
T |
C |
9: 34,850,494 (GRCm39) |
Y41H |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,811,474 (GRCm39) |
E56G |
possibly damaging |
Het |
| Lgi1 |
G |
A |
19: 38,289,683 (GRCm39) |
V250I |
probably damaging |
Het |
| Lipf |
A |
G |
19: 33,950,946 (GRCm39) |
N306D |
probably benign |
Het |
| Lman2l |
C |
T |
1: 36,484,262 (GRCm39) |
W18* |
probably null |
Het |
| Lztfl1 |
T |
A |
9: 123,531,251 (GRCm39) |
N239I |
possibly damaging |
Het |
| Mief1 |
T |
C |
15: 80,132,126 (GRCm39) |
S66P |
possibly damaging |
Het |
| Mmp8 |
C |
A |
9: 7,567,535 (GRCm39) |
S465* |
probably null |
Het |
| Muc2 |
A |
T |
7: 141,287,444 (GRCm39) |
T208S |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,187,990 (GRCm39) |
K921* |
probably null |
Het |
| Nbn |
T |
C |
4: 15,969,393 (GRCm39) |
S213P |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,466,102 (GRCm39) |
E499G |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,289,627 (GRCm39) |
E87G |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,811 (GRCm39) |
T314A |
probably benign |
Het |
| Or51f2 |
T |
A |
7: 102,526,892 (GRCm39) |
C188* |
probably null |
Het |
| Or8g23 |
T |
C |
9: 38,971,395 (GRCm39) |
H189R |
probably benign |
Het |
| Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
| Pigk |
A |
G |
3: 152,472,151 (GRCm39) |
I354M |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,349,508 (GRCm39) |
C75S |
probably damaging |
Het |
| Pm20d1 |
T |
A |
1: 131,739,852 (GRCm39) |
I400N |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,172,664 (GRCm39) |
H17L |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,003,719 (GRCm39) |
L168Q |
probably damaging |
Het |
| Rab3gap2 |
A |
T |
1: 185,010,478 (GRCm39) |
H1136L |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,532,433 (GRCm39) |
T134A |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,367,220 (GRCm39) |
E1024G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,861,376 (GRCm39) |
V977A |
probably benign |
Het |
| Rusc2 |
C |
T |
4: 43,415,212 (GRCm39) |
P173S |
probably benign |
Het |
| Selenov |
A |
T |
7: 27,987,447 (GRCm39) |
D310E |
probably damaging |
Het |
| Serpina3f |
T |
A |
12: 104,183,582 (GRCm39) |
L148Q |
probably damaging |
Het |
| Slc10a1 |
C |
T |
12: 81,007,221 (GRCm39) |
V187I |
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,787,339 (GRCm39) |
K258E |
probably damaging |
Het |
| Tas2r105 |
A |
C |
6: 131,664,365 (GRCm39) |
V21G |
probably benign |
Het |
| Tmem229b-ps |
T |
A |
10: 53,351,295 (GRCm39) |
|
noncoding transcript |
Het |
| Tnrc6a |
C |
G |
7: 122,770,269 (GRCm39) |
H686Q |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,743,780 (GRCm39) |
F715L |
probably benign |
Het |
| Ube2t |
T |
A |
1: 134,897,036 (GRCm39) |
I56N |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,207,963 (GRCm39) |
Y4915H |
possibly damaging |
Het |
| Usp32 |
T |
A |
11: 84,930,830 (GRCm39) |
E533D |
probably damaging |
Het |
| Vipr2 |
T |
G |
12: 116,086,430 (GRCm39) |
|
probably null |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,269 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn1r203 |
T |
G |
13: 22,708,617 (GRCm39) |
S133A |
possibly damaging |
Het |
| Vmn1r215 |
T |
G |
13: 23,260,378 (GRCm39) |
N139K |
probably damaging |
Het |
| Vmn1r232 |
C |
T |
17: 21,133,601 (GRCm39) |
R333H |
probably benign |
Het |
| Wdr20rt |
C |
A |
12: 65,273,988 (GRCm39) |
H311N |
possibly damaging |
Het |
| Zranb1 |
T |
C |
7: 132,568,425 (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 |
|
|
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'- TGCTGAGGAACCATCAGCAC -3'
(R):5'- CCTGGATGGCTTAGCTTTGC -3'
Sequencing Primer
(F):5'- GCTTTACGCACTCAGGCC -3'
(R):5'- TAGCTTTGCTAAGGTTGATCCTCAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation