Incidental Mutation 'R2092:Myh9'
| ID |
231869 |
| 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 |
040097-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2092 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 77648550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 80
(Q80*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000016771
AA Change: Q1742*
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: Q1742*
| 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 null
Transcript: ENSMUST00000229259
AA Change: Q80*
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,651,896 (GRCm39) |
C1321* |
probably null |
Het |
| Abca8b |
A |
G |
11: 109,857,534 (GRCm39) |
F673L |
possibly damaging |
Het |
| Adam19 |
T |
G |
11: 45,951,731 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,024,041 (GRCm39) |
T313A |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,260,318 (GRCm39) |
I178F |
probably benign |
Het |
| Alb |
G |
GA |
5: 90,611,842 (GRCm39) |
|
probably null |
Het |
| Bod1l |
A |
G |
5: 41,988,860 (GRCm39) |
S416P |
probably damaging |
Het |
| Casr |
A |
T |
16: 36,330,405 (GRCm39) |
Y310N |
possibly damaging |
Het |
| Cela3a |
T |
C |
4: 137,131,737 (GRCm39) |
N152S |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,670,184 (GRCm39) |
C102* |
probably null |
Het |
| Col4a4 |
G |
A |
1: 82,476,667 (GRCm39) |
S554L |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,937,530 (GRCm39) |
K1392R |
probably damaging |
Het |
| Dab1 |
T |
G |
4: 104,535,974 (GRCm39) |
Y128D |
probably damaging |
Het |
| Dars1 |
A |
T |
1: 128,301,755 (GRCm39) |
M293K |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,950,912 (GRCm39) |
F493L |
possibly damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,651,748 (GRCm39) |
W330L |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,976,451 (GRCm39) |
M831K |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,897,545 (GRCm39) |
N715S |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,160 (GRCm39) |
L12Q |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,969 (GRCm39) |
M333V |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fto |
C |
A |
8: 92,136,315 (GRCm39) |
Y194* |
probably null |
Het |
| Gnptab |
T |
G |
10: 88,276,167 (GRCm39) |
Y1151* |
probably null |
Het |
| Grm1 |
A |
G |
10: 10,564,969 (GRCm39) |
L1113P |
probably benign |
Het |
| Hnrnpa0 |
T |
C |
13: 58,275,614 (GRCm39) |
K172E |
probably damaging |
Het |
| Ifitm1 |
A |
G |
7: 140,549,427 (GRCm39) |
D70G |
probably damaging |
Het |
| Irx4 |
C |
A |
13: 73,413,605 (GRCm39) |
T25K |
probably damaging |
Het |
| Kif22 |
C |
T |
7: 126,632,802 (GRCm39) |
D195N |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,366,365 (GRCm39) |
D245N |
probably benign |
Het |
| Lyz1 |
C |
T |
10: 117,124,504 (GRCm39) |
R144Q |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,276,971 (GRCm39) |
T6055S |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Myo6 |
G |
T |
9: 80,152,964 (GRCm39) |
R199L |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,967,546 (GRCm39) |
V499I |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,465 (GRCm39) |
F140S |
probably benign |
Het |
| Or4p8 |
A |
G |
2: 88,727,611 (GRCm39) |
F110S |
probably damaging |
Het |
| Or52ab7 |
G |
A |
7: 102,978,316 (GRCm39) |
V208M |
probably damaging |
Het |
| Or52z1 |
A |
T |
7: 103,437,279 (GRCm39) |
F68L |
possibly damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,166 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p81 |
CAAATA |
CA |
7: 108,266,869 (GRCm39) |
|
probably null |
Het |
| Or8g21 |
A |
T |
9: 38,906,485 (GRCm39) |
L82Q |
probably damaging |
Het |
| Otop1 |
A |
T |
5: 38,457,110 (GRCm39) |
I290F |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,489,007 (GRCm39) |
D203N |
probably damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,547,240 (GRCm39) |
I772N |
probably benign |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,616 (GRCm39) |
H423R |
probably benign |
Het |
| Ptk2 |
A |
T |
15: 73,108,040 (GRCm39) |
Y56* |
probably null |
Het |
| Rapgef3 |
T |
C |
15: 97,658,604 (GRCm39) |
D134G |
probably damaging |
Het |
| Scaf11 |
A |
C |
15: 96,313,708 (GRCm39) |
S1358A |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,363,720 (GRCm39) |
M844V |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,858,002 (GRCm39) |
E1121G |
probably damaging |
Het |
| Slc25a15 |
T |
C |
8: 22,870,950 (GRCm39) |
T176A |
probably damaging |
Het |
| Slc29a4 |
T |
A |
5: 142,704,610 (GRCm39) |
I384N |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,614 (GRCm39) |
D555E |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,216,263 (GRCm39) |
I446V |
probably benign |
Het |
| St6gal2 |
T |
C |
17: 55,817,267 (GRCm39) |
Y477H |
probably damaging |
Het |
| Syngr1 |
A |
T |
15: 80,000,141 (GRCm39) |
Q84L |
possibly damaging |
Het |
| Tedc1 |
T |
C |
12: 113,121,340 (GRCm39) |
L187P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,721,456 (GRCm39) |
I322V |
probably null |
Het |
| Thap12 |
T |
C |
7: 98,365,656 (GRCm39) |
V608A |
possibly damaging |
Het |
| Tmbim6 |
T |
C |
15: 99,299,949 (GRCm39) |
S22P |
probably damaging |
Het |
| Ttc3 |
C |
T |
16: 94,243,691 (GRCm39) |
P1232S |
probably benign |
Het |
| Upk3a |
A |
G |
15: 84,902,286 (GRCm39) |
T38A |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,554,442 (GRCm39) |
M1549K |
probably benign |
Het |
| Vmn1r176 |
C |
T |
7: 23,534,578 (GRCm39) |
D192N |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,538,885 (GRCm39) |
T35A |
possibly damaging |
Het |
| Xkr7 |
C |
T |
2: 152,895,983 (GRCm39) |
S279L |
probably damaging |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp641 |
G |
T |
15: 98,191,593 (GRCm39) |
T31N |
probably benign |
Het |
| Zfp74 |
G |
A |
7: 29,653,349 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCTGGAACCTAGTCTCAG -3'
(R):5'- ACGAGCTGGCTGATGAGATC -3'
Sequencing Primer
(F):5'- TGGAACCTAGTCTCAGAGGCG -3'
(R):5'- GCTGATGAGATCGCCAACAGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation