Incidental Mutation 'R2078:Myh9'
ID |
229301 |
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 |
040083-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2078 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77648112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 1788
(K1788R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
|
AlphaFold |
Q8VDD5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016771
AA Change: K1788R
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000016771 Gene: ENSMUSG00000022443 AA Change: K1788R
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
C |
A |
1: 75,148,780 (GRCm39) |
G55C |
probably damaging |
Het |
Acss3 |
T |
C |
10: 106,802,902 (GRCm39) |
T448A |
possibly damaging |
Het |
Atxn7 |
A |
G |
14: 14,052,975 (GRCm38) |
N138D |
probably damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,315,077 (GRCm39) |
D869V |
probably benign |
Het |
Cps1 |
T |
G |
1: 67,196,965 (GRCm39) |
Y339D |
probably damaging |
Het |
Cps1 |
T |
C |
1: 67,234,424 (GRCm39) |
I937T |
possibly damaging |
Het |
Dlgap4 |
T |
C |
2: 156,604,746 (GRCm39) |
S261P |
probably damaging |
Het |
Dusp6 |
T |
C |
10: 99,099,686 (GRCm39) |
Y45H |
probably damaging |
Het |
Ebag9 |
A |
G |
15: 44,500,200 (GRCm39) |
N157S |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,887,522 (GRCm39) |
D770G |
probably benign |
Het |
Ezr |
A |
G |
17: 7,050,041 (GRCm39) |
M1T |
probably null |
Het |
Fat4 |
A |
G |
3: 38,943,822 (GRCm39) |
N905S |
probably damaging |
Het |
Fcrlb |
C |
G |
1: 170,735,650 (GRCm39) |
R208P |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,927,466 (GRCm38) |
V1892A |
probably damaging |
Het |
Gas2 |
G |
A |
7: 51,547,073 (GRCm39) |
V75M |
probably benign |
Het |
Gda |
T |
A |
19: 21,378,036 (GRCm39) |
D267V |
probably damaging |
Het |
Gper1 |
A |
T |
5: 139,411,888 (GRCm39) |
I78F |
probably benign |
Het |
Hectd1 |
A |
C |
12: 51,795,325 (GRCm39) |
I2368S |
probably damaging |
Het |
Katna1 |
C |
T |
10: 7,619,333 (GRCm39) |
P114S |
probably benign |
Het |
Lce3c |
G |
A |
3: 92,852,758 (GRCm39) |
S73N |
unknown |
Het |
Lrfn3 |
A |
T |
7: 30,059,879 (GRCm39) |
D115E |
possibly damaging |
Het |
Lrrc47 |
C |
A |
4: 154,103,888 (GRCm39) |
T505K |
probably damaging |
Het |
Mertk |
C |
T |
2: 128,636,378 (GRCm39) |
T784I |
probably damaging |
Het |
Mettl21e |
T |
A |
1: 44,245,662 (GRCm39) |
I195F |
possibly damaging |
Het |
Mff |
T |
C |
1: 82,719,642 (GRCm39) |
S207P |
probably damaging |
Het |
Mtmr6 |
A |
G |
14: 60,529,436 (GRCm39) |
|
probably null |
Het |
Narf |
A |
G |
11: 121,136,220 (GRCm39) |
T199A |
probably benign |
Het |
Neurod6 |
A |
G |
6: 55,655,954 (GRCm39) |
S228P |
probably benign |
Het |
Notch4 |
A |
T |
17: 34,787,689 (GRCm39) |
|
probably null |
Het |
Nyap2 |
T |
C |
1: 81,169,696 (GRCm39) |
L151P |
probably damaging |
Het |
Or5b21 |
T |
A |
19: 12,839,751 (GRCm39) |
V204E |
probably benign |
Het |
P2ry1 |
A |
G |
3: 60,911,118 (GRCm39) |
I86V |
probably damaging |
Het |
Pafah1b2 |
G |
T |
9: 45,880,127 (GRCm39) |
D183E |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,619,276 (GRCm39) |
E179G |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,250,791 (GRCm39) |
E436G |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,391,163 (GRCm39) |
I1514V |
probably benign |
Het |
Plch1 |
A |
G |
3: 63,609,364 (GRCm39) |
S948P |
probably benign |
Het |
Rfc5 |
A |
G |
5: 117,518,868 (GRCm39) |
V296A |
probably benign |
Het |
Rnf150 |
A |
T |
8: 83,730,234 (GRCm39) |
I255F |
probably damaging |
Het |
Rsbn1 |
A |
G |
3: 103,868,839 (GRCm39) |
D626G |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,593,171 (GRCm39) |
D346G |
possibly damaging |
Het |
Slc38a11 |
A |
T |
2: 65,160,728 (GRCm39) |
F289I |
possibly damaging |
Het |
Terf2ip |
A |
G |
8: 112,742,035 (GRCm39) |
N243S |
probably benign |
Het |
Tmed5 |
A |
T |
5: 108,272,471 (GRCm39) |
V209E |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,974,462 (GRCm39) |
S603P |
possibly damaging |
Het |
Tomm20 |
T |
C |
8: 127,663,822 (GRCm39) |
M121V |
possibly damaging |
Het |
Tspan33 |
G |
A |
6: 29,709,970 (GRCm39) |
V45I |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
Vsig8 |
C |
A |
1: 172,390,856 (GRCm39) |
D301E |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,145,597 (GRCm39) |
H91Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGACAGAACTGGTTCCTGAC -3'
(R):5'- GACAGATCCCTTCCCAAGAG -3'
Sequencing Primer
(F):5'- TTCCTGACCCAACCTGAGGTG -3'
(R):5'- GATCCCTTCCCAAGAGAGCTG -3'
|
Posted On |
2014-09-17 |