Incidental Mutation 'R4299:Myh9'
ID |
323511 |
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 |
041087-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4299 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77654164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1214
(T1214A)
|
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: T1214A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000016771 Gene: ENSMUSG00000022443 AA Change: T1214A
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 |
probably benign
Transcript: ENSMUST00000229259
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231192
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (76/78) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
Akna |
A |
T |
4: 63,316,269 (GRCm39) |
D31E |
possibly damaging |
Het |
Apbb2 |
A |
T |
5: 66,470,721 (GRCm39) |
H528Q |
probably damaging |
Het |
Atp6v1g3 |
C |
A |
1: 138,211,462 (GRCm39) |
Y47* |
probably null |
Het |
AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
C4b |
T |
C |
17: 34,950,118 (GRCm39) |
D1384G |
possibly damaging |
Het |
Cbfa2t2 |
G |
A |
2: 154,365,848 (GRCm39) |
V353I |
probably damaging |
Het |
Ccdc121 |
A |
G |
5: 31,644,870 (GRCm39) |
R208G |
possibly damaging |
Het |
Cdh20 |
T |
C |
1: 109,988,731 (GRCm39) |
I211T |
probably damaging |
Het |
Cep170b |
T |
C |
12: 112,705,739 (GRCm39) |
S1166P |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Crygs |
G |
A |
16: 22,624,161 (GRCm39) |
Q149* |
probably null |
Het |
Cyp2c70 |
T |
C |
19: 40,172,372 (GRCm39) |
Q90R |
probably benign |
Het |
Cyp3a41b |
T |
C |
5: 145,510,487 (GRCm39) |
Y129C |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,896,989 (GRCm39) |
T3645A |
probably damaging |
Het |
Dnai3 |
C |
T |
3: 145,774,561 (GRCm39) |
D429N |
probably damaging |
Het |
Dolk |
A |
T |
2: 30,175,200 (GRCm39) |
W282R |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,729,008 (GRCm39) |
|
probably null |
Het |
Dysf |
A |
G |
6: 84,045,059 (GRCm39) |
T297A |
possibly damaging |
Het |
Flt1 |
G |
T |
5: 147,620,717 (GRCm39) |
D142E |
probably benign |
Het |
Frmd4a |
C |
A |
2: 4,337,882 (GRCm39) |
N29K |
probably benign |
Het |
Fxyd7 |
A |
T |
7: 30,744,407 (GRCm39) |
M36K |
probably benign |
Het |
Gabbr1 |
C |
T |
17: 37,366,792 (GRCm39) |
R178* |
probably null |
Het |
Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
Il1rapl1 |
A |
T |
X: 86,344,313 (GRCm39) |
I194N |
probably damaging |
Het |
Kics2 |
C |
A |
10: 121,581,351 (GRCm39) |
H117Q |
probably benign |
Het |
Klhl24 |
T |
C |
16: 19,925,754 (GRCm39) |
M94T |
probably damaging |
Het |
Kmt2e |
T |
A |
5: 23,669,912 (GRCm39) |
I133N |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,293,199 (GRCm39) |
I5381T |
probably damaging |
Het |
Madd |
A |
G |
2: 91,000,148 (GRCm39) |
L197P |
probably damaging |
Het |
Mapkapk3 |
G |
A |
9: 107,134,648 (GRCm39) |
T296M |
probably damaging |
Het |
Micall2 |
T |
C |
5: 139,695,226 (GRCm39) |
|
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
Neurl4 |
A |
C |
11: 69,799,887 (GRCm39) |
D1055A |
probably damaging |
Het |
Nrbp1 |
T |
C |
5: 31,407,943 (GRCm39) |
|
probably null |
Het |
Or13a20 |
T |
C |
7: 140,232,156 (GRCm39) |
V88A |
probably benign |
Het |
Or1e21 |
A |
T |
11: 73,344,827 (GRCm39) |
D70E |
probably damaging |
Het |
Or52z1 |
T |
A |
7: 103,437,202 (GRCm39) |
H94L |
probably benign |
Het |
Or5j3 |
A |
T |
2: 86,128,585 (GRCm39) |
I142F |
possibly damaging |
Het |
Or6k8-ps1 |
T |
A |
1: 173,979,878 (GRCm39) |
Y265* |
probably null |
Het |
Or8b42 |
T |
G |
9: 38,342,108 (GRCm39) |
Y177D |
probably damaging |
Het |
Or8d1b |
T |
A |
9: 38,887,055 (GRCm39) |
F28I |
probably damaging |
Het |
Or8g19 |
T |
C |
9: 39,056,295 (GRCm39) |
S300P |
probably benign |
Het |
Patj |
C |
A |
4: 98,565,558 (GRCm39) |
N1090K |
possibly damaging |
Het |
Pde8a |
A |
G |
7: 80,977,783 (GRCm39) |
D692G |
probably benign |
Het |
Ppa2 |
G |
T |
3: 133,073,603 (GRCm39) |
K220N |
probably damaging |
Het |
Pramel32 |
T |
C |
4: 88,546,419 (GRCm39) |
K137E |
probably damaging |
Het |
Ptgr3 |
A |
T |
18: 84,112,626 (GRCm39) |
I101F |
possibly damaging |
Het |
Rad54b |
A |
G |
4: 11,597,865 (GRCm39) |
H250R |
probably damaging |
Het |
Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
Rgs14 |
A |
G |
13: 55,531,566 (GRCm39) |
T497A |
probably damaging |
Het |
Rpl13-ps3 |
T |
A |
14: 59,130,972 (GRCm39) |
|
noncoding transcript |
Het |
Scn11a |
T |
G |
9: 119,594,572 (GRCm39) |
I1274L |
probably damaging |
Het |
Sco1 |
A |
T |
11: 66,946,626 (GRCm39) |
H133L |
possibly damaging |
Het |
Slc4a8 |
T |
C |
15: 100,694,521 (GRCm39) |
|
probably null |
Het |
Smc2 |
C |
T |
4: 52,440,238 (GRCm39) |
|
probably benign |
Het |
Spata18 |
T |
C |
5: 73,824,245 (GRCm39) |
I156T |
probably benign |
Het |
St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
Stt3a |
A |
G |
9: 36,674,640 (GRCm39) |
F48L |
probably damaging |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
Telo2 |
A |
T |
17: 25,334,230 (GRCm39) |
S6T |
possibly damaging |
Het |
Tnfrsf11b |
T |
C |
15: 54,115,491 (GRCm39) |
M369V |
probably benign |
Het |
Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
Vmn1r234 |
A |
T |
17: 21,449,283 (GRCm39) |
M66L |
probably benign |
Het |
Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
Wdfy2 |
T |
A |
14: 63,162,589 (GRCm39) |
L97* |
probably null |
Het |
Xrcc5 |
T |
C |
1: 72,433,879 (GRCm39) |
*733Q |
probably null |
Het |
Zfp1004 |
G |
A |
2: 150,032,653 (GRCm39) |
D17N |
probably damaging |
Het |
Zfp516 |
G |
A |
18: 83,005,622 (GRCm39) |
G842D |
possibly damaging |
Het |
Zwilch |
A |
G |
9: 64,062,444 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGCTTGGTGACCTTGTC -3'
(R):5'- CCCCTCTCAGAAAGGGAAAG -3'
Sequencing Primer
(F):5'- GTGACCTTGTCGGCCAGTTC -3'
(R):5'- AAAGCTTGCGGGATTCTGTCAC -3'
|
Posted On |
2015-06-20 |