Incidental Mutation 'R8837:Myh9'
| ID |
674241 |
| 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 |
068665-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8837 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77661137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 818
(A818V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000231192]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016771
AA Change: A818V
PolyPhen 2
Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: A818V
| 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: A29V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| Abcb4 |
T |
G |
5: 8,986,873 (GRCm39) |
F764C |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,982,078 (GRCm39) |
D739G |
possibly damaging |
Het |
| Atosb |
A |
G |
4: 43,034,531 (GRCm39) |
S355P |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,677,980 (GRCm39) |
Y1012C |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,929,133 (GRCm39) |
T206A |
probably benign |
Het |
| Capn8 |
G |
T |
1: 182,456,199 (GRCm39) |
A650S |
possibly damaging |
Het |
| Catsper1 |
A |
C |
19: 5,386,070 (GRCm39) |
N101T |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,160,755 (GRCm39) |
S2070R |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,737,518 (GRCm39) |
V2775A |
probably benign |
Het |
| Clybl |
G |
A |
14: 122,419,194 (GRCm39) |
|
probably null |
Het |
| Cog4 |
T |
A |
8: 111,579,004 (GRCm39) |
N148K |
probably benign |
Het |
| Dbnl |
G |
A |
11: 5,741,839 (GRCm39) |
G44D |
possibly damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,667,630 (GRCm39) |
N276K |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,746,060 (GRCm39) |
T4018S |
possibly damaging |
Het |
| Dock3 |
A |
G |
9: 106,774,539 (GRCm39) |
L72P |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,928,374 (GRCm39) |
D84G |
probably benign |
Het |
| Fabp4 |
T |
C |
3: 10,271,105 (GRCm39) |
T51A |
probably benign |
Het |
| Fars2 |
T |
A |
13: 36,430,409 (GRCm39) |
I279N |
probably damaging |
Het |
| Fas |
A |
T |
19: 34,296,049 (GRCm39) |
Q164L |
probably benign |
Het |
| Focad |
A |
G |
4: 88,072,905 (GRCm39) |
K107E |
probably damaging |
Het |
| Gga3 |
G |
A |
11: 115,479,305 (GRCm39) |
S338L |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,765,940 (GRCm39) |
R91G |
probably damaging |
Het |
| Igkv3-7 |
A |
G |
6: 70,584,942 (GRCm39) |
D94G |
possibly damaging |
Het |
| Kank3 |
G |
C |
17: 34,036,627 (GRCm39) |
R165P |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,762,048 (GRCm39) |
L434Q |
unknown |
Het |
| Krt18 |
A |
G |
15: 101,938,265 (GRCm39) |
T163A |
possibly damaging |
Het |
| Lcn10 |
T |
A |
2: 25,575,298 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,394,795 (GRCm39) |
P210Q |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,852,548 (GRCm39) |
S2183T |
probably benign |
Het |
| Mga |
G |
A |
2: 119,769,272 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
C |
2: 36,458,703 (GRCm39) |
I31T |
probably benign |
Het |
| Or1o3 |
G |
T |
17: 37,573,807 (GRCm39) |
Y249* |
probably null |
Het |
| Or8b1 |
A |
T |
9: 38,399,597 (GRCm39) |
I91F |
probably benign |
Het |
| Pde7b |
A |
G |
10: 20,314,469 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
T |
9: 98,936,117 (GRCm39) |
Y772N |
possibly damaging |
Het |
| Ppl |
C |
G |
16: 4,906,854 (GRCm39) |
R1147P |
probably damaging |
Het |
| Prl3d2 |
A |
T |
13: 27,307,926 (GRCm39) |
D69V |
probably benign |
Het |
| Psd3 |
A |
G |
8: 68,172,596 (GRCm39) |
F871L |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,045,432 (GRCm39) |
P152S |
probably benign |
Het |
| Rpa1 |
T |
C |
11: 75,204,167 (GRCm39) |
E270G |
possibly damaging |
Het |
| Scfd2 |
T |
C |
5: 74,691,656 (GRCm39) |
T209A |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,621,410 (GRCm39) |
L669P |
probably damaging |
Het |
| Sec31b |
A |
T |
19: 44,506,106 (GRCm39) |
C933* |
probably null |
Het |
| Serpina3k |
G |
T |
12: 104,309,292 (GRCm39) |
M245I |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,305,823 (GRCm39) |
I280N |
probably damaging |
Het |
| Soat1 |
A |
G |
1: 156,261,772 (GRCm39) |
V412A |
probably damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,850,596 (GRCm39) |
S511T |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,253,384 (GRCm39) |
V1455E |
possibly damaging |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Tbxas1 |
G |
T |
6: 39,048,364 (GRCm39) |
M403I |
|
Het |
| Tln2 |
A |
T |
9: 67,157,866 (GRCm39) |
C1158S |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,778,811 (GRCm39) |
T98A |
possibly damaging |
Het |
| Ttc23 |
T |
C |
7: 67,319,494 (GRCm39) |
L118P |
probably damaging |
Het |
| Tyr |
T |
A |
7: 87,087,223 (GRCm39) |
I430L |
probably damaging |
Het |
| Uck2 |
A |
G |
1: 167,070,715 (GRCm39) |
F5L |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,485,847 (GRCm39) |
V2986I |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,888 (GRCm39) |
D266G |
probably benign |
Het |
| Yrdc |
A |
G |
4: 124,747,677 (GRCm39) |
D213G |
probably benign |
Het |
| Zfp612 |
C |
A |
8: 110,815,603 (GRCm39) |
T270K |
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 |
|
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 |
|
|
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'- TCTCTAGTTTGGCCCAACCCAG -3'
(R):5'- GTGACCTGAGCCCTGTTATTC -3'
Sequencing Primer
(F):5'- CAAACAAGTGGTGGTGCTGGC -3'
(R):5'- GACCTGAGCCCTGTTATTCATGTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation