Incidental Mutation 'R5952:Myh9'
ID |
470970 |
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 |
044142-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5952 (G1)
|
Quality Score |
99 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77657532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1071
(I1071T)
|
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: I1071T
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000016771 Gene: ENSMUSG00000022443 AA Change: I1071T
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: ENSMUST00000229259
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231192
|
Meta Mutation Damage Score |
0.0728 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
91% (62/68) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
A |
T |
6: 86,086,728 (GRCm39) |
D296V |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,233,559 (GRCm39) |
E599G |
possibly damaging |
Het |
Ank3 |
A |
T |
10: 69,822,293 (GRCm39) |
I1604F |
probably benign |
Het |
Arid4a |
A |
G |
12: 71,109,980 (GRCm39) |
D107G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,019,770 (GRCm39) |
T2060A |
probably damaging |
Het |
Btn2a2 |
A |
T |
13: 23,666,978 (GRCm39) |
I209N |
probably benign |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,596,901 (GRCm39) |
V1979A |
probably damaging |
Het |
Cyp4a12b |
C |
T |
4: 115,271,714 (GRCm39) |
R142* |
probably null |
Het |
Ddx23 |
A |
T |
15: 98,556,121 (GRCm39) |
S66T |
unknown |
Het |
Efcab2 |
A |
G |
1: 178,303,439 (GRCm39) |
K121R |
probably benign |
Het |
Epb41l1 |
T |
A |
2: 156,345,708 (GRCm39) |
V237D |
probably damaging |
Het |
Epb41l1 |
G |
T |
2: 156,366,903 (GRCm39) |
A579S |
probably benign |
Het |
Epn1 |
G |
A |
7: 5,096,911 (GRCm39) |
R231H |
probably damaging |
Het |
Fbrs |
T |
C |
7: 127,086,924 (GRCm39) |
S649P |
probably damaging |
Het |
Fezf1 |
A |
G |
6: 23,247,427 (GRCm39) |
V216A |
probably benign |
Het |
Gen1 |
A |
T |
12: 11,310,897 (GRCm39) |
S112T |
probably damaging |
Het |
Glrx2 |
A |
G |
1: 143,620,872 (GRCm39) |
N84D |
probably benign |
Het |
Gm1818 |
T |
G |
12: 48,602,719 (GRCm39) |
|
noncoding transcript |
Het |
Hira |
C |
A |
16: 18,753,815 (GRCm39) |
T553K |
possibly damaging |
Het |
Hnrnph3 |
A |
G |
10: 62,851,374 (GRCm39) |
|
probably benign |
Het |
Ighv12-3 |
A |
T |
12: 114,330,204 (GRCm39) |
F97Y |
probably benign |
Het |
Jcad |
A |
G |
18: 4,674,554 (GRCm39) |
Q772R |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,014,670 (GRCm39) |
T610A |
probably benign |
Het |
Map3k19 |
T |
C |
1: 127,750,477 (GRCm39) |
D958G |
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,039,082 (GRCm39) |
|
probably benign |
Het |
Mocos |
T |
C |
18: 24,834,444 (GRCm39) |
V827A |
possibly damaging |
Het |
Ms4a10 |
T |
A |
19: 10,941,486 (GRCm39) |
D161V |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,370,246 (GRCm39) |
E1002G |
possibly damaging |
Het |
Neurod6 |
G |
A |
6: 55,656,002 (GRCm39) |
H212Y |
probably damaging |
Het |
Or2v1 |
A |
T |
11: 49,025,399 (GRCm39) |
I95F |
probably damaging |
Het |
Or52z13 |
T |
A |
7: 103,247,174 (GRCm39) |
I217N |
probably damaging |
Het |
Or5b12 |
T |
C |
19: 12,897,194 (GRCm39) |
N160D |
probably benign |
Het |
Pcdhb17 |
T |
C |
18: 37,620,133 (GRCm39) |
V641A |
probably benign |
Het |
Ppp3ca |
A |
T |
3: 136,634,332 (GRCm39) |
M431L |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,461,671 (GRCm39) |
I69F |
probably damaging |
Het |
Rab34 |
G |
T |
11: 78,081,094 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,318,406 (GRCm39) |
N619S |
probably benign |
Het |
Rnf169 |
T |
C |
7: 99,574,840 (GRCm39) |
H585R |
probably damaging |
Het |
Rps6kc1 |
A |
G |
1: 190,617,617 (GRCm39) |
V129A |
probably benign |
Het |
Siglecf |
C |
T |
7: 43,005,351 (GRCm39) |
T437M |
probably benign |
Het |
Slc25a2 |
T |
C |
18: 37,771,335 (GRCm39) |
N65D |
probably benign |
Het |
Spire1 |
A |
G |
18: 67,639,779 (GRCm39) |
S245P |
probably benign |
Het |
Sptb |
A |
T |
12: 76,679,158 (GRCm39) |
M99K |
probably benign |
Het |
Tacc1 |
G |
T |
8: 25,672,011 (GRCm39) |
L406I |
possibly damaging |
Het |
Tas2r140 |
T |
C |
6: 40,468,476 (GRCm39) |
I102T |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,949,952 (GRCm39) |
|
probably null |
Het |
Trbv11 |
A |
G |
6: 41,084,153 (GRCm39) |
|
noncoding transcript |
Het |
Trmt11 |
A |
G |
10: 30,436,838 (GRCm39) |
Y301H |
probably benign |
Het |
Tspo |
A |
G |
15: 83,456,441 (GRCm39) |
T75A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,710,569 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,462,030 (GRCm39) |
Q1210R |
probably damaging |
Het |
Zhx3 |
A |
T |
2: 160,623,937 (GRCm39) |
Y77N |
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 |
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'- AGAAGTGTCTTGCTCTTGGC -3'
(R):5'- GTGCATGGTGTCCCTTTAAACAG -3'
Sequencing Primer
(F):5'- TCTTGGCTCTGACACAGAAG -3'
(R):5'- AGTCCATGTGTCCTACAAGTAC -3'
|
Posted On |
2017-03-31 |