Incidental Mutation 'IGL03137:Myh9'
ID |
410555 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03137
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77675289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 276
(I276N)
|
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: I276N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000016771 Gene: ENSMUSG00000022443 AA Change: I276N
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: ENSMUST00000124844
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126796
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129453
|
Coding Region Coverage |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankub1 |
T |
C |
3: 57,597,778 (GRCm39) |
D64G |
probably damaging |
Het |
Apobec2 |
C |
T |
17: 48,730,303 (GRCm39) |
W121* |
probably null |
Het |
Arid2 |
A |
G |
15: 96,269,199 (GRCm39) |
N1104S |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,088,751 (GRCm39) |
M569K |
probably damaging |
Het |
Brap |
T |
C |
5: 121,803,156 (GRCm39) |
|
probably benign |
Het |
Cilp |
A |
C |
9: 65,185,450 (GRCm39) |
N515T |
probably benign |
Het |
Cpeb2 |
T |
A |
5: 43,419,067 (GRCm39) |
|
probably benign |
Het |
Creb1 |
C |
T |
1: 64,615,374 (GRCm39) |
T242I |
possibly damaging |
Het |
Ddx60 |
T |
C |
8: 62,441,117 (GRCm39) |
V1062A |
possibly damaging |
Het |
Dock8 |
A |
G |
19: 25,133,312 (GRCm39) |
E1153G |
probably benign |
Het |
Gk5 |
A |
G |
9: 96,058,345 (GRCm39) |
|
probably benign |
Het |
Gm5478 |
G |
T |
15: 101,552,817 (GRCm39) |
N60K |
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,252,242 (GRCm39) |
V904D |
probably damaging |
Het |
Hnmt |
T |
A |
2: 23,938,751 (GRCm39) |
H29L |
probably damaging |
Het |
Hsf1 |
A |
G |
15: 76,380,649 (GRCm39) |
|
probably benign |
Het |
Igkv1-122 |
C |
A |
6: 67,994,400 (GRCm39) |
T96K |
probably damaging |
Het |
Iyd |
T |
C |
10: 3,501,987 (GRCm39) |
I211T |
probably damaging |
Het |
Kcnn1 |
G |
T |
8: 71,303,381 (GRCm39) |
H34N |
probably damaging |
Het |
Krtap5-3 |
G |
T |
7: 141,755,946 (GRCm39) |
|
probably benign |
Het |
Map3k19 |
C |
T |
1: 127,752,052 (GRCm39) |
R433K |
probably benign |
Het |
Mss51 |
A |
C |
14: 20,537,200 (GRCm39) |
C89W |
probably damaging |
Het |
Myof |
T |
C |
19: 37,963,337 (GRCm39) |
E420G |
probably damaging |
Het |
Nfatc2ip |
C |
A |
7: 125,989,740 (GRCm39) |
V215L |
possibly damaging |
Het |
Or10ag52 |
A |
T |
2: 87,043,500 (GRCm39) |
Y88F |
probably benign |
Het |
Or51m1 |
T |
C |
7: 103,578,801 (GRCm39) |
M257T |
probably benign |
Het |
Or5d18 |
G |
A |
2: 87,864,754 (GRCm39) |
A243V |
probably benign |
Het |
Pcdhb4 |
T |
C |
18: 37,441,569 (GRCm39) |
I293T |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,486,213 (GRCm39) |
S729P |
possibly damaging |
Het |
Pick1 |
C |
A |
15: 79,129,501 (GRCm39) |
H169N |
possibly damaging |
Het |
Ppp4r4 |
A |
C |
12: 103,547,643 (GRCm39) |
K212T |
probably damaging |
Het |
Racgap1 |
A |
G |
15: 99,526,622 (GRCm39) |
S314P |
probably damaging |
Het |
Rasef |
C |
A |
4: 73,652,720 (GRCm39) |
E594* |
probably null |
Het |
Ryr3 |
T |
G |
2: 112,740,742 (GRCm39) |
K522Q |
probably benign |
Het |
Shoc1 |
G |
T |
4: 59,094,162 (GRCm39) |
F187L |
probably benign |
Het |
Six5 |
T |
C |
7: 18,831,072 (GRCm39) |
|
probably benign |
Het |
Slc26a9 |
G |
T |
1: 131,691,615 (GRCm39) |
E619D |
probably benign |
Het |
Sqor |
A |
G |
2: 122,649,991 (GRCm39) |
I412V |
probably benign |
Het |
Srrt |
T |
A |
5: 137,294,379 (GRCm39) |
|
probably benign |
Het |
Sult1e1 |
C |
T |
5: 87,726,475 (GRCm39) |
R213K |
probably benign |
Het |
Tmc2 |
T |
A |
2: 130,082,050 (GRCm39) |
L411H |
probably damaging |
Het |
Tmem63b |
T |
A |
17: 45,975,921 (GRCm39) |
N511Y |
probably damaging |
Het |
Ucp3 |
T |
A |
7: 100,131,969 (GRCm39) |
|
probably benign |
Het |
Vmn1r201 |
A |
T |
13: 22,658,974 (GRCm39) |
I63F |
probably benign |
Het |
Vps13c |
G |
T |
9: 67,797,662 (GRCm39) |
L522F |
probably damaging |
Het |
Wwp1 |
T |
A |
4: 19,678,408 (GRCm39) |
T3S |
probably damaging |
Het |
Zc3hav1 |
A |
G |
6: 38,309,329 (GRCm39) |
S498P |
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 |
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 |
|
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 |
|
Posted On |
2016-08-02 |