Incidental Mutation 'R7284:Myh9'
ID |
565903 |
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 |
045392-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7284 (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 77671796 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 432
(R432C)
|
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: R432C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000016771 Gene: ENSMUSG00000022443 AA Change: R432C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
99% (77/78) |
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 |
2900092C05Rik |
G |
T |
7: 12,246,605 (GRCm39) |
E34* |
probably null |
Het |
4933421I07Rik |
C |
T |
7: 42,097,404 (GRCm39) |
R30H |
probably damaging |
Het |
AB124611 |
C |
A |
9: 21,450,400 (GRCm39) |
Q158K |
probably benign |
Het |
Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
Abcc9 |
A |
T |
6: 142,628,643 (GRCm39) |
L367Q |
probably damaging |
Het |
Aftph |
T |
C |
11: 20,676,812 (GRCm39) |
K266E |
probably benign |
Het |
Akap9 |
T |
A |
5: 4,006,246 (GRCm39) |
D190E |
probably damaging |
Het |
Angel1 |
G |
T |
12: 86,767,298 (GRCm39) |
D359E |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,846,184 (GRCm39) |
I474T |
probably damaging |
Het |
Atp2c1 |
A |
T |
9: 105,398,008 (GRCm39) |
|
probably null |
Het |
Best1 |
T |
C |
19: 9,963,737 (GRCm39) |
|
probably null |
Het |
Bhlha9 |
A |
G |
11: 76,563,492 (GRCm39) |
S40G |
probably benign |
Het |
Cabin1 |
G |
A |
10: 75,530,668 (GRCm39) |
R178C |
|
Het |
Ccnb1ip1 |
A |
G |
14: 51,029,736 (GRCm39) |
Y109H |
probably damaging |
Het |
Col14a1 |
T |
C |
15: 55,381,715 (GRCm39) |
S1763P |
probably damaging |
Het |
Dars1 |
T |
C |
1: 128,300,004 (GRCm39) |
T327A |
probably benign |
Het |
Dhx8 |
T |
C |
11: 101,645,648 (GRCm39) |
Y889H |
probably damaging |
Het |
Dlg4 |
T |
A |
11: 69,932,908 (GRCm39) |
Y523* |
probably null |
Het |
Dnah10 |
A |
T |
5: 124,909,662 (GRCm39) |
D4484V |
probably benign |
Het |
Dnah9 |
A |
T |
11: 65,881,302 (GRCm39) |
M2591K |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,180,672 (GRCm39) |
E1715G |
probably benign |
Het |
Dym |
A |
G |
18: 75,252,242 (GRCm39) |
Y336C |
possibly damaging |
Het |
Ezh2 |
A |
G |
6: 47,521,453 (GRCm39) |
M439T |
probably benign |
Het |
Folr1 |
T |
G |
7: 101,508,677 (GRCm39) |
N83H |
possibly damaging |
Het |
Ganab |
T |
C |
19: 8,889,904 (GRCm39) |
L656P |
probably damaging |
Het |
Gmnc |
T |
C |
16: 26,779,542 (GRCm39) |
H161R |
probably benign |
Het |
Gria4 |
A |
G |
9: 4,472,017 (GRCm39) |
Y491H |
probably damaging |
Het |
Heatr3 |
T |
A |
8: 88,883,402 (GRCm39) |
C412S |
possibly damaging |
Het |
Hmgcr |
A |
C |
13: 96,789,173 (GRCm39) |
V716G |
probably damaging |
Het |
Igsf9 |
A |
G |
1: 172,324,479 (GRCm39) |
D799G |
probably damaging |
Het |
Ikbkb |
T |
C |
8: 23,158,976 (GRCm39) |
T501A |
probably benign |
Het |
Kbtbd3 |
C |
T |
9: 4,330,690 (GRCm39) |
R355* |
probably null |
Het |
Kcna7 |
T |
A |
7: 45,058,652 (GRCm39) |
I313N |
probably damaging |
Het |
Kirrel1 |
A |
C |
3: 86,990,694 (GRCm39) |
D709E |
probably benign |
Het |
Klb |
T |
A |
5: 65,540,821 (GRCm39) |
S971R |
probably benign |
Het |
Krtap4-13 |
A |
T |
11: 99,700,238 (GRCm39) |
C140* |
probably null |
Het |
Lacc1 |
A |
T |
14: 77,268,309 (GRCm39) |
L334Q |
probably damaging |
Het |
Map6d1 |
T |
A |
16: 20,059,775 (GRCm39) |
R97* |
probably null |
Het |
Mgat5b |
T |
C |
11: 116,835,746 (GRCm39) |
S129P |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Ncf4 |
A |
G |
15: 78,144,902 (GRCm39) |
T236A |
probably benign |
Het |
Neb |
T |
C |
2: 52,148,804 (GRCm39) |
D2581G |
probably damaging |
Het |
Nid1 |
T |
A |
13: 13,663,675 (GRCm39) |
M778K |
probably benign |
Het |
Npas2 |
A |
G |
1: 39,363,548 (GRCm39) |
D209G |
probably benign |
Het |
Nploc4 |
C |
T |
11: 120,307,196 (GRCm39) |
V181I |
possibly damaging |
Het |
Nrcam |
A |
T |
12: 44,610,817 (GRCm39) |
I506F |
probably damaging |
Het |
Or52w1 |
T |
A |
7: 105,017,752 (GRCm39) |
M73K |
probably damaging |
Het |
Or5h27 |
A |
G |
16: 59,006,331 (GRCm39) |
*172Q |
probably null |
Het |
Or6c3b |
T |
C |
10: 129,527,220 (GRCm39) |
N230S |
probably benign |
Het |
Pask |
T |
A |
1: 93,248,391 (GRCm39) |
Q970L |
probably benign |
Het |
Pfkfb4 |
T |
C |
9: 108,840,308 (GRCm39) |
I308T |
possibly damaging |
Het |
Pla2g4d |
A |
T |
2: 120,114,617 (GRCm39) |
L38Q |
probably damaging |
Het |
Pld1 |
A |
G |
3: 28,185,882 (GRCm39) |
T1036A |
possibly damaging |
Het |
Pom121l2 |
A |
G |
13: 22,166,775 (GRCm39) |
T349A |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,801,400 (GRCm39) |
I551T |
possibly damaging |
Het |
Prps1l1 |
A |
G |
12: 35,035,317 (GRCm39) |
N144S |
possibly damaging |
Het |
Prss56 |
A |
G |
1: 87,113,123 (GRCm39) |
N179S |
probably null |
Het |
Prune2 |
T |
C |
19: 17,097,250 (GRCm39) |
L918P |
probably damaging |
Het |
Ptprz1 |
C |
T |
6: 23,000,097 (GRCm39) |
T729I |
probably damaging |
Het |
Relch |
T |
A |
1: 105,662,308 (GRCm39) |
H942Q |
probably benign |
Het |
Rrp7a |
T |
C |
15: 83,006,071 (GRCm39) |
T60A |
probably damaging |
Het |
Snx27 |
A |
G |
3: 94,431,498 (GRCm39) |
Y299H |
probably damaging |
Het |
Spaca3 |
G |
T |
11: 80,754,847 (GRCm39) |
R96L |
possibly damaging |
Het |
Stat1 |
A |
G |
1: 52,188,081 (GRCm39) |
N495S |
probably benign |
Het |
Tas2r130 |
T |
C |
6: 131,607,270 (GRCm39) |
N175S |
probably benign |
Het |
Tcaf2 |
A |
G |
6: 42,606,472 (GRCm39) |
L494P |
probably damaging |
Het |
Tdrd12 |
C |
A |
7: 35,179,561 (GRCm39) |
|
probably null |
Het |
Thbs1 |
A |
G |
2: 117,949,837 (GRCm39) |
N604S |
probably damaging |
Het |
Togaram1 |
T |
C |
12: 65,055,454 (GRCm39) |
F1482L |
probably benign |
Het |
Trhr2 |
A |
T |
8: 123,087,114 (GRCm39) |
S109T |
probably damaging |
Het |
Trpc3 |
A |
T |
3: 36,678,562 (GRCm39) |
M841K |
probably damaging |
Het |
Tubgcp5 |
C |
T |
7: 55,473,315 (GRCm39) |
R798C |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,347,173 (GRCm39) |
M3138K |
probably benign |
Het |
Zdhhc4 |
G |
A |
5: 143,307,646 (GRCm39) |
T125I |
probably benign |
Het |
Zfp239 |
T |
A |
6: 117,848,716 (GRCm39) |
C151* |
probably null |
Het |
Zfp473 |
C |
T |
7: 44,382,627 (GRCm39) |
E569K |
not run |
Het |
Zzef1 |
T |
A |
11: 72,777,516 (GRCm39) |
D1782E |
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 |
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'- AAGATTGCCAGTGTGAGCAG -3'
(R):5'- GGATCTAGAATGCCTTCCCC -3'
Sequencing Primer
(F):5'- AGTGTGAGCAGCCACGG -3'
(R):5'- CATCTTCCATGCCTAGGCTG -3'
|
Posted On |
2019-06-26 |