Incidental Mutation 'R5030:Myh9'
| ID |
391655 |
| 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 |
042621-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 77691998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000123101]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016771
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134878
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (87/89) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
A |
C |
5: 26,684,783 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
A |
T |
7: 119,939,224 (GRCm39) |
E206V |
probably damaging |
Het |
| Acy1 |
A |
G |
9: 106,310,596 (GRCm39) |
F343L |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,229,645 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,607,948 (GRCm39) |
D4041E |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,129,102 (GRCm39) |
S166P |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,604,946 (GRCm39) |
C2199S |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,431,409 (GRCm39) |
Y316* |
probably null |
Het |
| Atp1a1 |
T |
C |
3: 101,487,133 (GRCm39) |
D892G |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,472,336 (GRCm39) |
V581A |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,997,548 (GRCm39) |
|
probably benign |
Het |
| Boll |
T |
A |
1: 55,394,894 (GRCm39) |
N57I |
probably damaging |
Het |
| C1s2 |
A |
C |
6: 124,612,547 (GRCm39) |
V36G |
possibly damaging |
Het |
| Capza1 |
T |
C |
3: 104,748,154 (GRCm39) |
Y70C |
probably damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,668,950 (GRCm39) |
S292P |
possibly damaging |
Het |
| Cemip2 |
T |
G |
19: 21,819,469 (GRCm39) |
F1087V |
probably benign |
Het |
| Cyp2g1 |
T |
G |
7: 26,520,226 (GRCm39) |
V486G |
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,080,454 (GRCm39) |
T49S |
possibly damaging |
Het |
| Dhx58 |
A |
T |
11: 100,586,963 (GRCm39) |
I610N |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,478,502 (GRCm39) |
N455K |
probably damaging |
Het |
| Fam170a |
T |
A |
18: 50,415,021 (GRCm39) |
N222K |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,254,624 (GRCm39) |
V213A |
possibly damaging |
Het |
| Frem3 |
A |
C |
8: 81,339,876 (GRCm39) |
D723A |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,818,836 (GRCm39) |
K4856N |
possibly damaging |
Het |
| Galnt17 |
A |
G |
5: 130,905,351 (GRCm39) |
V571A |
probably damaging |
Het |
| Gm6124 |
A |
G |
7: 38,872,454 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8973 |
A |
G |
15: 98,904,136 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd2 |
A |
G |
2: 57,194,417 (GRCm39) |
T107A |
probably damaging |
Het |
| Hsd17b11 |
G |
A |
5: 104,151,158 (GRCm39) |
A192V |
probably damaging |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,426 (GRCm39) |
Q4* |
probably null |
Het |
| Kalrn |
A |
G |
16: 33,796,112 (GRCm39) |
I1221T |
probably benign |
Het |
| Klhl9 |
G |
T |
4: 88,638,771 (GRCm39) |
T490K |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,571 (GRCm39) |
V28A |
probably damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,425,675 (GRCm39) |
P1419S |
unknown |
Het |
| Man2c1 |
A |
G |
9: 57,047,923 (GRCm39) |
H843R |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,682 (GRCm39) |
K680E |
unknown |
Het |
| Metap2 |
A |
T |
10: 93,715,539 (GRCm39) |
|
probably null |
Het |
| Mfsd2a |
A |
T |
4: 122,843,949 (GRCm39) |
I340N |
possibly damaging |
Het |
| Mgll |
T |
C |
6: 88,795,647 (GRCm39) |
|
probably null |
Het |
| Ncapd3 |
A |
T |
9: 26,983,062 (GRCm39) |
I937F |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,224,504 (GRCm39) |
|
probably benign |
Het |
| Nova1 |
A |
G |
12: 46,747,030 (GRCm39) |
S416P |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,678,308 (GRCm39) |
W95R |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t26 |
A |
T |
11: 49,039,188 (GRCm39) |
M35L |
probably benign |
Het |
| Or5p76 |
T |
A |
7: 108,122,384 (GRCm39) |
I258F |
possibly damaging |
Het |
| Or7e175 |
A |
T |
9: 20,049,363 (GRCm39) |
K317M |
probably benign |
Het |
| Pcdha7 |
T |
A |
18: 37,108,501 (GRCm39) |
S509T |
probably damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,198,207 (GRCm39) |
V296A |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,494 (GRCm39) |
L50* |
probably null |
Het |
| Plcl2 |
G |
T |
17: 50,914,347 (GRCm39) |
R452L |
possibly damaging |
Het |
| Poldip3 |
A |
T |
15: 83,022,392 (GRCm39) |
F131I |
possibly damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,076,209 (GRCm39) |
|
probably benign |
Het |
| Rffl |
G |
A |
11: 82,703,543 (GRCm39) |
R127* |
probably null |
Het |
| Sec24d |
T |
A |
3: 123,152,550 (GRCm39) |
V854E |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,056,918 (GRCm39) |
L1034* |
probably null |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| Spaca1 |
A |
T |
4: 34,039,247 (GRCm39) |
N95K |
possibly damaging |
Het |
| Spag17 |
C |
T |
3: 99,992,657 (GRCm39) |
Q1718* |
probably null |
Het |
| Spdl1 |
C |
T |
11: 34,714,267 (GRCm39) |
A141T |
probably benign |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,714 (GRCm39) |
|
noncoding transcript |
Het |
| Supv3l1 |
G |
T |
10: 62,266,394 (GRCm39) |
A594D |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,866,255 (GRCm39) |
N483S |
possibly damaging |
Het |
| Tonsl |
A |
T |
15: 76,522,301 (GRCm39) |
C231S |
probably damaging |
Het |
| Trav9n-4 |
T |
C |
14: 53,532,305 (GRCm39) |
F53S |
possibly damaging |
Het |
| Trgv7 |
G |
T |
13: 19,362,558 (GRCm39) |
L82F |
probably damaging |
Het |
| Trim45 |
T |
G |
3: 100,835,388 (GRCm39) |
V457G |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,885,579 (GRCm39) |
I865N |
probably damaging |
Het |
| Trpm3 |
C |
A |
19: 22,676,130 (GRCm39) |
L99I |
probably benign |
Het |
| Twist1 |
T |
A |
12: 34,008,440 (GRCm39) |
L155Q |
probably damaging |
Het |
| Vac14 |
A |
G |
8: 111,437,018 (GRCm39) |
E577G |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,881 (GRCm39) |
V209A |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,198,288 (GRCm39) |
G1200R |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 74,990,990 (GRCm39) |
D290N |
possibly damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,725,263 (GRCm39) |
T585A |
probably benign |
Het |
| Zc3h4 |
T |
A |
7: 16,156,155 (GRCm39) |
D262E |
unknown |
Het |
| Zfp777 |
G |
T |
6: 48,014,601 (GRCm39) |
D368E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGATGTGGGCAACTCTC -3'
(R):5'- TGAATGCCGTCCTCGAGAATC -3'
Sequencing Primer
(F):5'- CTGATGTGGGCAACTCTCAGAAG -3'
(R):5'- GTCCTCGAGAATCAGACTTGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation