Incidental Mutation 'R5435:Myh9'
| ID |
484548 |
| 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 |
043000-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5435 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77653809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1280
(V1280I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000231192]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016771
AA Change: V1280I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: V1280I
| 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 |
noncoding transcript
Transcript: ENSMUST00000139729
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229259
AA Change: V5I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231192
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (74/74) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,383,413 (GRCm39) |
F851L |
probably benign |
Het |
| Abca17 |
C |
T |
17: 24,486,588 (GRCm39) |
V1480I |
possibly damaging |
Het |
| Acsbg1 |
G |
T |
9: 54,523,153 (GRCm39) |
Y491* |
probably null |
Het |
| Acsf3 |
T |
A |
8: 123,507,020 (GRCm39) |
N104K |
probably damaging |
Het |
| Adam23 |
T |
C |
1: 63,585,612 (GRCm39) |
Y400H |
possibly damaging |
Het |
| Adgra3 |
G |
A |
5: 50,147,468 (GRCm39) |
T524M |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,902,198 (GRCm39) |
|
probably benign |
Het |
| Anxa9 |
T |
C |
3: 95,204,561 (GRCm39) |
Y321C |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,565,552 (GRCm39) |
Y329N |
probably damaging |
Het |
| Aph1c |
A |
T |
9: 66,741,783 (GRCm39) |
I33N |
possibly damaging |
Het |
| B3galnt2 |
A |
G |
13: 14,171,575 (GRCm39) |
E491G |
probably benign |
Het |
| Bdh1 |
C |
T |
16: 31,275,475 (GRCm39) |
R235C |
probably damaging |
Het |
| Ccar2 |
A |
G |
14: 70,376,776 (GRCm39) |
L856P |
probably damaging |
Het |
| Ccdc107 |
A |
T |
4: 43,493,519 (GRCm39) |
D30V |
probably damaging |
Het |
| Ccdc116 |
G |
T |
16: 16,960,626 (GRCm39) |
H64N |
probably benign |
Het |
| Ccl12 |
T |
C |
11: 81,994,001 (GRCm39) |
I86T |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,898,391 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
T |
A |
1: 82,431,728 (GRCm39) |
I1519F |
unknown |
Het |
| Ddx19b |
T |
C |
8: 111,735,458 (GRCm39) |
Q416R |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,037,121 (GRCm39) |
M3374L |
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,463,807 (GRCm39) |
I119F |
probably damaging |
Het |
| Ensa |
C |
A |
3: 95,529,769 (GRCm39) |
|
probably benign |
Het |
| Fbxo4 |
C |
T |
15: 3,995,274 (GRCm39) |
V357I |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Foxf1 |
G |
A |
8: 121,811,231 (GRCm39) |
G32S |
probably damaging |
Het |
| Gls2 |
G |
A |
10: 128,030,995 (GRCm39) |
|
probably benign |
Het |
| Gm13599 |
T |
A |
2: 67,226,496 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnn |
A |
G |
13: 24,936,084 (GRCm39) |
S197P |
probably benign |
Het |
| Guf1 |
A |
T |
5: 69,720,512 (GRCm39) |
H324L |
probably benign |
Het |
| H2-Q6 |
A |
G |
17: 35,644,661 (GRCm39) |
D150G |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,832,791 (GRCm39) |
L152Q |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,797,682 (GRCm39) |
S13A |
probably benign |
Het |
| Ighv5-4 |
A |
G |
12: 113,561,283 (GRCm39) |
F46L |
probably benign |
Het |
| Kank1 |
T |
G |
19: 25,388,507 (GRCm39) |
S727A |
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,578,472 (GRCm39) |
Y201* |
probably null |
Het |
| Lyst |
A |
T |
13: 13,951,649 (GRCm39) |
H3750L |
possibly damaging |
Het |
| Mettl25 |
A |
G |
10: 105,615,447 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
G |
4: 81,201,724 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,416,388 (GRCm39) |
T32S |
probably benign |
Het |
| Nol7 |
C |
A |
13: 43,554,848 (GRCm39) |
H187Q |
possibly damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,814 (GRCm39) |
N21I |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,126,652 (GRCm39) |
D378G |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,113,770 (GRCm39) |
S694P |
probably damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,805,696 (GRCm39) |
|
probably null |
Het |
| Pik3c2g |
T |
G |
6: 139,661,581 (GRCm39) |
|
probably null |
Het |
| Prkar2a |
A |
G |
9: 108,617,682 (GRCm39) |
R247G |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,212,398 (GRCm39) |
I319T |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rasa3 |
T |
C |
8: 13,681,811 (GRCm39) |
E46G |
possibly damaging |
Het |
| Rbbp5 |
T |
A |
1: 132,422,013 (GRCm39) |
H304Q |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,668,975 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,103,878 (GRCm39) |
E1783V |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,835,603 (GRCm39) |
N151S |
probably benign |
Het |
| Tbc1d32 |
C |
A |
10: 55,916,246 (GRCm39) |
A1191S |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,350,979 (GRCm39) |
R140S |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,958 (GRCm39) |
Y2565C |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,744,702 (GRCm39) |
V5449D |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,985 (GRCm39) |
P893S |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,742,268 (GRCm39) |
F2325S |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,039,951 (GRCm39) |
D352G |
probably benign |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Ypel3 |
A |
G |
7: 126,374,960 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
A |
5: 137,402,024 (GRCm39) |
T4023S |
unknown |
Het |
| Zfp735 |
T |
A |
11: 73,602,939 (GRCm39) |
C628S |
possibly 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 |
|
|
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'- GTCTGTCTGCAAGCAAGAAG -3'
(R):5'- ACTGCAGGTCAAGTTCAGCG -3'
Sequencing Primer
(F):5'- CAAGAAGCGTGCATGTGCC -3'
(R):5'- GGCCGACAAGGTCACCAAG -3'
|
| Posted On |
2017-08-11 |
Incidental Mutation