Incidental Mutation 'R4826:Myh9'
| ID |
374163 |
| 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 |
042442-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4826 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 77673146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 400
(Y400*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000123101]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000016771
AA Change: Y400*
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: Y400*
| 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: ENSMUST00000126796
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129453
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,815,470 (GRCm39) |
R239S |
probably damaging |
Het |
| Acin1 |
A |
G |
14: 54,902,074 (GRCm39) |
S573P |
probably damaging |
Het |
| Acta2 |
A |
T |
19: 34,229,223 (GRCm39) |
Y55* |
probably null |
Het |
| Aifm2 |
T |
C |
10: 61,561,768 (GRCm39) |
M38T |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,650 (GRCm39) |
V460L |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,968,043 (GRCm39) |
S185P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,232,451 (GRCm39) |
Y399C |
probably damaging |
Het |
| Ciao3 |
A |
G |
17: 25,999,306 (GRCm39) |
H240R |
probably damaging |
Het |
| Clec2d |
T |
C |
6: 129,161,122 (GRCm39) |
V73A |
probably benign |
Het |
| Cntln |
T |
G |
4: 84,923,281 (GRCm39) |
M582R |
probably benign |
Het |
| Cyp4a10 |
C |
T |
4: 115,375,541 (GRCm39) |
P8L |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,067,162 (GRCm39) |
N555D |
probably damaging |
Het |
| Dusp4 |
T |
A |
8: 35,285,671 (GRCm39) |
F311I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,905,256 (GRCm39) |
V1245A |
possibly damaging |
Het |
| Ephb3 |
G |
A |
16: 21,033,745 (GRCm39) |
R23H |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,592,975 (GRCm39) |
T410A |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,593,875 (GRCm39) |
E124G |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,037,106 (GRCm39) |
V3586E |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,606,108 (GRCm39) |
S611P |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,731,752 (GRCm39) |
T956A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,603,838 (GRCm39) |
T107K |
unknown |
Het |
| Herc6 |
T |
A |
6: 57,624,072 (GRCm39) |
M614K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,292,706 (GRCm39) |
C4095R |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,575 (GRCm39) |
I463T |
possibly damaging |
Het |
| Icam5 |
C |
T |
9: 20,949,099 (GRCm39) |
A817V |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,920,240 (GRCm39) |
D1366E |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,344,018 (GRCm39) |
V553I |
probably damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,899,783 (GRCm39) |
I92F |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,446,789 (GRCm39) |
C435S |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,650,615 (GRCm39) |
M216V |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,657,582 (GRCm39) |
V979A |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Nbeal1 |
A |
G |
1: 60,290,501 (GRCm39) |
R1033G |
possibly damaging |
Het |
| Nit1 |
T |
C |
1: 171,173,166 (GRCm39) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,133,343 (GRCm39) |
|
noncoding transcript |
Het |
| Nt5c1a |
T |
C |
4: 123,102,365 (GRCm39) |
V97A |
probably damaging |
Het |
| Or12k5 |
A |
G |
2: 36,895,345 (GRCm39) |
Y94H |
probably damaging |
Het |
| Or13a18 |
T |
A |
7: 140,190,232 (GRCm39) |
M51K |
probably benign |
Het |
| Or1a1b |
A |
G |
11: 74,097,157 (GRCm39) |
M295T |
possibly damaging |
Het |
| Or56a5 |
G |
T |
7: 104,793,175 (GRCm39) |
N108K |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,693 (GRCm39) |
D109V |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,103,676 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
T |
C |
3: 142,515,270 (GRCm39) |
K640R |
probably damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,192,879 (GRCm39) |
S263P |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 31,742,006 (GRCm39) |
S73P |
possibly damaging |
Het |
| Prr27 |
A |
C |
5: 87,998,825 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
G |
T |
4: 11,599,753 (GRCm39) |
W319L |
probably damaging |
Het |
| Rassf8 |
T |
A |
6: 145,762,276 (GRCm39) |
L349H |
probably damaging |
Het |
| Rmc1 |
G |
T |
18: 12,318,836 (GRCm39) |
|
probably benign |
Het |
| Rnf113a2 |
T |
A |
12: 84,464,388 (GRCm39) |
N93K |
probably benign |
Het |
| Sapcd2 |
C |
T |
2: 25,262,768 (GRCm39) |
A109V |
probably benign |
Het |
| Slamf9 |
C |
A |
1: 172,304,008 (GRCm39) |
H118N |
probably benign |
Het |
| Slc37a1 |
A |
G |
17: 31,541,147 (GRCm39) |
Y213C |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,316,494 (GRCm39) |
D580G |
probably benign |
Het |
| Slc7a2 |
T |
A |
8: 41,364,083 (GRCm39) |
I432N |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,666,800 (GRCm39) |
L76Q |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,668,180 (GRCm39) |
P391L |
unknown |
Het |
| Tdrd12 |
A |
C |
7: 35,203,582 (GRCm39) |
V314G |
probably benign |
Het |
| Zbtb7b |
A |
G |
3: 89,288,080 (GRCm39) |
L246S |
probably benign |
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 |
|
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'- TAGGAGCGCTAGTCAACAATTC -3'
(R):5'- TATGGCTAGCTTCAGTGACTGC -3'
Sequencing Primer
(F):5'- ATTCCCACACAGCGGGCAG -3'
(R):5'- CTAGCTTCAGTGACTGCGTTTGC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation