Incidental Mutation 'R9229:Myh9'
| ID |
700125 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
77644787-77726375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77675017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 300
(Y300F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
[ENSMUST00000123101]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016771
AA Change: Y300F
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: Y300F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (77/79) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
A |
G |
12: 70,990,259 (GRCm39) |
T104A |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,774,270 (GRCm39) |
V1065I |
unknown |
Het |
| Agpat1 |
G |
T |
17: 34,830,663 (GRCm39) |
V196L |
probably null |
Het |
| Agxt2 |
T |
A |
15: 10,409,597 (GRCm39) |
V499E |
probably damaging |
Het |
| Amy2a1 |
T |
A |
3: 113,325,955 (GRCm39) |
|
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,592,215 (GRCm39) |
T834A |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,479,314 (GRCm39) |
S51T |
probably benign |
Het |
| Armc12 |
A |
C |
17: 28,751,345 (GRCm39) |
D113A |
probably benign |
Het |
| Azin1 |
T |
A |
15: 38,490,646 (GRCm39) |
I436F |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,166,107 (GRCm39) |
V334A |
probably damaging |
Het |
| Ccdc68 |
C |
T |
18: 70,080,203 (GRCm39) |
H183Y |
probably benign |
Het |
| Cd180 |
TA |
TAA |
13: 102,841,514 (GRCm39) |
|
probably null |
Het |
| Cemip |
A |
T |
7: 83,606,833 (GRCm39) |
W795R |
probably damaging |
Het |
| Cenpj |
C |
T |
14: 56,802,176 (GRCm39) |
E130K |
possibly damaging |
Het |
| Ciao1 |
G |
C |
2: 127,089,062 (GRCm39) |
C52W |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,176 (GRCm39) |
S971P |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,384,960 (GRCm39) |
L9* |
probably null |
Het |
| Coro1c |
G |
T |
5: 114,003,747 (GRCm39) |
H91N |
probably damaging |
Het |
| Crbn |
A |
T |
6: 106,777,017 (GRCm39) |
M1K |
probably null |
Het |
| Ctsb |
T |
A |
14: 63,373,112 (GRCm39) |
W90R |
probably damaging |
Het |
| Ctse |
A |
G |
1: 131,595,862 (GRCm39) |
I185V |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 138,981,100 (GRCm39) |
E105* |
probably null |
Het |
| Eif4a3l1 |
A |
G |
6: 136,306,141 (GRCm39) |
I201V |
possibly damaging |
Het |
| Exoc5 |
G |
A |
14: 49,251,710 (GRCm39) |
Q679* |
probably null |
Het |
| Firrm |
A |
T |
1: 163,794,659 (GRCm39) |
W512R |
probably damaging |
Het |
| Gabrg3 |
G |
A |
7: 56,374,268 (GRCm39) |
R433C |
probably damaging |
Het |
| Gria2 |
C |
A |
3: 80,709,689 (GRCm39) |
M1I |
probably null |
Het |
| H1f6 |
T |
C |
13: 23,880,029 (GRCm39) |
S61P |
probably damaging |
Het |
| Hoxb6 |
A |
T |
11: 96,191,645 (GRCm39) |
Q189L |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,524,600 (GRCm39) |
N304S |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Htra4 |
A |
T |
8: 25,528,557 (GRCm39) |
C112S |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,261,598 (GRCm39) |
T715A |
|
Het |
| Ipo13 |
A |
T |
4: 117,758,801 (GRCm39) |
I688N |
probably damaging |
Het |
| Irs2 |
A |
C |
8: 11,057,400 (GRCm39) |
L344R |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,987 (GRCm39) |
T1781A |
unknown |
Het |
| Lin7a |
G |
T |
10: 107,247,844 (GRCm39) |
V172L |
probably damaging |
Het |
| Lpcat1 |
G |
T |
13: 73,653,650 (GRCm39) |
E282D |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,063,584 (GRCm39) |
T963A |
probably benign |
Het |
| Mfsd14a |
G |
A |
3: 116,439,118 (GRCm39) |
A128V |
probably benign |
Het |
| Mfsd6 |
C |
G |
1: 52,747,903 (GRCm39) |
G321R |
probably damaging |
Het |
| Mill2 |
C |
T |
7: 18,590,475 (GRCm39) |
T185I |
probably damaging |
Het |
| Mpped1 |
C |
T |
15: 83,738,673 (GRCm39) |
T270I |
possibly damaging |
Het |
| Mrtfb |
G |
T |
16: 13,230,185 (GRCm39) |
A957S |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,304,052 (GRCm39) |
T953S |
possibly damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,799 (GRCm39) |
S429T |
probably benign |
Het |
| Nphp3 |
T |
A |
9: 103,913,376 (GRCm39) |
Y1003N |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,310,339 (GRCm39) |
K1588R |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,127,324 (GRCm39) |
R963L |
possibly damaging |
Het |
| Or10ag56 |
G |
A |
2: 87,139,165 (GRCm39) |
V31I |
probably benign |
Het |
| Or5b124 |
T |
A |
19: 13,611,414 (GRCm39) |
V313D |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,753,660 (GRCm39) |
V870A |
probably benign |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
C |
A |
2: 28,352,390 (GRCm39) |
M124I |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,591,315 (GRCm39) |
V155E |
probably damaging |
Het |
| Pmepa1 |
T |
C |
2: 173,117,962 (GRCm39) |
T6A |
probably benign |
Het |
| Pnpla7 |
G |
A |
2: 24,873,503 (GRCm39) |
V170I |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,089 (GRCm39) |
C458* |
probably null |
Het |
| Ptprz1 |
A |
G |
6: 22,986,283 (GRCm39) |
H361R |
probably null |
Het |
| Pvalb |
T |
A |
15: 78,086,767 (GRCm39) |
I50F |
possibly damaging |
Het |
| Relch |
A |
T |
1: 105,614,709 (GRCm39) |
I218F |
possibly damaging |
Het |
| Rhag |
G |
A |
17: 41,142,081 (GRCm39) |
A175T |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,200,983 (GRCm39) |
V291A |
possibly damaging |
Het |
| Slc9b2 |
G |
A |
3: 135,042,295 (GRCm39) |
E525K |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,720,971 (GRCm39) |
F747S |
possibly damaging |
Het |
| Sorcs1 |
T |
G |
19: 50,141,300 (GRCm39) |
I1144L |
probably benign |
Het |
| Sox1 |
A |
T |
8: 12,447,390 (GRCm39) |
I344F |
possibly damaging |
Het |
| Speer4e2 |
A |
T |
5: 15,027,718 (GRCm39) |
S53T |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,067,750 (GRCm39) |
E2059V |
probably damaging |
Het |
| Sva |
T |
A |
6: 42,017,050 (GRCm39) |
N52K |
possibly damaging |
Het |
| Sva |
T |
A |
6: 42,017,052 (GRCm39) |
M53K |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,849,027 (GRCm39) |
Y913C |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,634,719 (GRCm39) |
S864P |
possibly damaging |
Het |
| Tma16 |
A |
G |
8: 66,936,779 (GRCm39) |
V16A |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,673,774 (GRCm39) |
S262G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,597,797 (GRCm39) |
D19705E |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,594,239 (GRCm39) |
L2162P |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,791,723 (GRCm39) |
I549V |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,851,156 (GRCm39) |
N329S |
probably benign |
Het |
| Zfp879 |
T |
A |
11: 50,723,886 (GRCm39) |
H390L |
probably damaging |
Het |
| Zranb1 |
C |
T |
7: 132,583,117 (GRCm39) |
S512F |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,766,393 (GRCm39) |
H847R |
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 |
|
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 |
|
|
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'- TTTCACAGGGACCCCTCAAC -3'
(R):5'- CAGCCTCAGAGCTTTGATGC -3'
Sequencing Primer
(F):5'- ACAGGACGTTTTCTACAGGC -3'
(R):5'- ATGCTCTGAGTTATGTAATTGCTAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation