Incidental Mutation 'IGL02887:Myh9'
ID |
363785 |
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 # |
IGL02887
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 77680220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 185
(K185*)
|
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: K185*
|
SMART Domains |
Protein: ENSMUSP00000016771 Gene: ENSMUSG00000022443 AA Change: K185*
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
G |
9: 57,166,168 (GRCm39) |
Y69H |
probably damaging |
Het |
Afap1l2 |
A |
T |
19: 56,908,995 (GRCm39) |
S310R |
probably damaging |
Het |
Aldh7a1 |
A |
G |
18: 56,675,288 (GRCm39) |
|
probably benign |
Het |
Anxa8 |
T |
A |
14: 33,818,481 (GRCm39) |
|
probably null |
Het |
Ap1ar |
T |
C |
3: 127,602,192 (GRCm39) |
E282G |
probably damaging |
Het |
Arl6ip6 |
T |
G |
2: 53,092,939 (GRCm39) |
S155A |
probably benign |
Het |
Armc9 |
T |
C |
1: 86,092,557 (GRCm39) |
F107S |
probably damaging |
Het |
Ash1l |
C |
A |
3: 88,891,488 (GRCm39) |
D1122E |
probably benign |
Het |
Atp2b4 |
T |
A |
1: 133,656,512 (GRCm39) |
I713F |
probably damaging |
Het |
BC005624 |
A |
C |
2: 30,863,317 (GRCm39) |
|
probably benign |
Het |
Calcrl |
T |
C |
2: 84,169,586 (GRCm39) |
D365G |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,396,221 (GRCm39) |
N704S |
probably benign |
Het |
Ccr10 |
G |
T |
11: 101,065,492 (GRCm39) |
L13I |
probably benign |
Het |
Cfap52 |
A |
G |
11: 67,844,341 (GRCm39) |
Y125H |
probably damaging |
Het |
Cnr2 |
C |
A |
4: 135,644,936 (GRCm39) |
T338K |
possibly damaging |
Het |
Cntn2 |
T |
A |
1: 132,444,308 (GRCm39) |
D935V |
probably damaging |
Het |
Cog7 |
T |
C |
7: 121,543,067 (GRCm39) |
K448R |
possibly damaging |
Het |
Csnk1g2 |
G |
A |
10: 80,474,369 (GRCm39) |
D197N |
probably damaging |
Het |
Cyp2e1 |
T |
A |
7: 140,343,824 (GRCm39) |
S21T |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,801,592 (GRCm39) |
F187L |
probably damaging |
Het |
Dmd |
T |
A |
X: 82,922,110 (GRCm39) |
F1460Y |
probably benign |
Het |
Dnah11 |
G |
A |
12: 117,874,775 (GRCm39) |
A4030V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,561,519 (GRCm39) |
V2046A |
possibly damaging |
Het |
Dnajc6 |
T |
C |
4: 101,496,497 (GRCm39) |
I820T |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,788,462 (GRCm39) |
D691G |
possibly damaging |
Het |
Fbp1 |
T |
A |
13: 63,016,894 (GRCm39) |
M203L |
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,992,470 (GRCm39) |
T409A |
unknown |
Het |
Golgb1 |
T |
G |
16: 36,746,211 (GRCm39) |
L2930R |
probably damaging |
Het |
Htr2a |
A |
G |
14: 74,882,583 (GRCm39) |
T190A |
probably benign |
Het |
Klra4 |
C |
T |
6: 130,021,033 (GRCm39) |
C254Y |
probably damaging |
Het |
Large1 |
A |
T |
8: 73,858,667 (GRCm39) |
V67E |
probably benign |
Het |
Lins1 |
T |
C |
7: 66,363,931 (GRCm39) |
S609P |
probably damaging |
Het |
Magi3 |
T |
C |
3: 104,002,473 (GRCm39) |
E156G |
probably damaging |
Het |
Mdh1b |
A |
G |
1: 63,754,523 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
T |
C |
1: 52,748,037 (GRCm39) |
D276G |
probably benign |
Het |
Myof |
T |
C |
19: 37,909,227 (GRCm39) |
|
probably null |
Het |
Naip2 |
T |
G |
13: 100,298,020 (GRCm39) |
Y672S |
possibly damaging |
Het |
Nbeal1 |
A |
G |
1: 60,326,603 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
T |
A |
9: 110,457,344 (GRCm39) |
H2273L |
probably damaging |
Het |
Neb |
T |
C |
2: 52,090,733 (GRCm39) |
K1346E |
possibly damaging |
Het |
Nfatc2 |
T |
C |
2: 168,346,370 (GRCm39) |
D908G |
probably damaging |
Het |
Nlgn2 |
T |
C |
11: 69,718,080 (GRCm39) |
N375S |
probably benign |
Het |
Nova1 |
G |
T |
12: 46,767,505 (GRCm39) |
Q139K |
unknown |
Het |
Opa3 |
A |
T |
7: 18,962,507 (GRCm39) |
Q47L |
probably damaging |
Het |
Or10g7 |
T |
A |
9: 39,905,109 (GRCm39) |
M1K |
probably null |
Het |
Or2t47 |
A |
G |
11: 58,442,987 (GRCm39) |
L26P |
probably damaging |
Het |
Or6c205 |
T |
A |
10: 129,086,794 (GRCm39) |
Y130* |
probably null |
Het |
Pacs1 |
A |
T |
19: 5,185,138 (GRCm39) |
|
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,609,829 (GRCm39) |
H1544L |
probably damaging |
Het |
Pax8 |
A |
G |
2: 24,334,627 (GRCm39) |
S48P |
probably damaging |
Het |
Pdilt |
T |
C |
7: 119,097,272 (GRCm39) |
N70S |
possibly damaging |
Het |
Poldip3 |
T |
C |
15: 83,013,469 (GRCm39) |
|
probably benign |
Het |
Ppp6r1 |
T |
A |
7: 4,645,211 (GRCm39) |
I80F |
probably damaging |
Het |
Pycr2 |
T |
A |
1: 180,732,304 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
C |
T |
3: 78,976,187 (GRCm39) |
|
probably benign |
Het |
Rbm44 |
T |
A |
1: 91,080,902 (GRCm39) |
D363E |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,318,336 (GRCm39) |
I1046F |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,606,155 (GRCm39) |
S4476P |
probably damaging |
Het |
Scara5 |
G |
A |
14: 66,000,278 (GRCm39) |
D483N |
unknown |
Het |
Scmh1 |
T |
A |
4: 120,325,586 (GRCm39) |
F101Y |
probably damaging |
Het |
Sgo2a |
T |
A |
1: 58,055,511 (GRCm39) |
V565E |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,673,071 (GRCm39) |
M473T |
probably benign |
Het |
Skint6 |
T |
A |
4: 113,095,381 (GRCm39) |
R93* |
probably null |
Het |
Skint7 |
T |
C |
4: 111,839,375 (GRCm39) |
V223A |
possibly damaging |
Het |
Slc25a2 |
T |
C |
18: 37,770,939 (GRCm39) |
I197V |
probably benign |
Het |
Slit2 |
A |
G |
5: 48,374,816 (GRCm39) |
T361A |
probably benign |
Het |
Sugp1 |
G |
A |
8: 70,522,776 (GRCm39) |
G492D |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,145,301 (GRCm39) |
G388D |
probably damaging |
Het |
Tbpl2 |
G |
T |
2: 23,983,888 (GRCm39) |
A183E |
probably damaging |
Het |
Tcerg1l |
G |
T |
7: 137,831,619 (GRCm39) |
P453T |
probably damaging |
Het |
Tdpoz2 |
T |
C |
3: 93,559,046 (GRCm39) |
T309A |
probably benign |
Het |
Thbs4 |
T |
A |
13: 92,927,306 (GRCm39) |
Y61F |
probably benign |
Het |
Tmem117 |
C |
A |
15: 94,992,656 (GRCm39) |
P439T |
probably damaging |
Het |
Tmem151a |
A |
G |
19: 5,132,993 (GRCm39) |
V71A |
probably benign |
Het |
Tmem268 |
G |
T |
4: 63,486,691 (GRCm39) |
|
probably benign |
Het |
Tmem43 |
T |
A |
6: 91,454,356 (GRCm39) |
Y48N |
possibly damaging |
Het |
Tmigd1 |
T |
C |
11: 76,804,812 (GRCm39) |
V217A |
probably benign |
Het |
Tmprss11g |
A |
T |
5: 86,645,188 (GRCm39) |
|
probably benign |
Het |
Tsn |
T |
C |
1: 118,237,551 (GRCm39) |
I38V |
probably benign |
Het |
Ttc41 |
A |
T |
10: 86,569,518 (GRCm39) |
Y632F |
probably damaging |
Het |
Vmn2r117 |
C |
T |
17: 23,694,552 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
A |
T |
5: 109,238,351 (GRCm39) |
I463N |
probably benign |
Het |
Wdsub1 |
T |
A |
2: 59,683,176 (GRCm39) |
N466I |
probably damaging |
Het |
Zdhhc21 |
A |
T |
4: 82,762,427 (GRCm39) |
I56N |
probably benign |
Het |
Zfand4 |
A |
G |
6: 116,250,617 (GRCm39) |
T16A |
possibly damaging |
Het |
Zmym4 |
T |
C |
4: 126,842,268 (GRCm39) |
E15G |
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 |
|
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 |
|
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 |
2015-12-18 |