Incidental Mutation 'R9396:Myh9'
| ID |
710855 |
| 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 # |
R9396 (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 C
at 77647496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1840
(T1840A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016771]
|
| AlphaFold |
Q8VDD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016771
AA Change: T1840A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000016771
Gene: ENSMUSG00000022443
AA Change: T1840A
| 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: ENSMUST00000229259
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
T |
A |
17: 85,000,282 (GRCm39) |
F281I |
probably damaging |
Het |
| Acad8 |
A |
G |
9: 26,887,041 (GRCm39) |
M402T |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Apol7a |
T |
C |
15: 77,273,925 (GRCm39) |
E179G |
possibly damaging |
Het |
| Asmt |
A |
G |
X: 169,110,141 (GRCm39) |
T217A |
probably benign |
Het |
| Cadm2 |
T |
C |
16: 66,544,102 (GRCm39) |
Y318C |
probably damaging |
Het |
| Cckar |
G |
A |
5: 53,864,623 (GRCm39) |
T26M |
probably damaging |
Het |
| Cd300ld |
G |
A |
11: 114,878,230 (GRCm39) |
T94I |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,172,903 (GRCm39) |
Y1390H |
possibly damaging |
Het |
| Cdk5rap2 |
C |
T |
4: 70,182,895 (GRCm39) |
S1268N |
probably damaging |
Het |
| Csrnp3 |
C |
T |
2: 65,832,841 (GRCm39) |
R127C |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,174,773 (GRCm39) |
R501* |
probably null |
Het |
| Dusp2 |
C |
T |
2: 127,179,638 (GRCm39) |
R294C |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,261,838 (GRCm39) |
K878E |
possibly damaging |
Het |
| Evc |
T |
C |
5: 37,476,434 (GRCm39) |
T372A |
possibly damaging |
Het |
| Fcgr1 |
T |
A |
3: 96,194,390 (GRCm39) |
K166* |
probably null |
Het |
| Fstl4 |
C |
A |
11: 52,664,778 (GRCm39) |
P36Q |
probably benign |
Het |
| Gas2l2 |
A |
T |
11: 83,313,659 (GRCm39) |
I551N |
probably benign |
Het |
| Hc |
G |
T |
2: 34,927,615 (GRCm39) |
S333* |
probably null |
Het |
| Ibsp |
A |
G |
5: 104,458,297 (GRCm39) |
Y278C |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Kcnc3 |
T |
C |
7: 44,240,937 (GRCm39) |
S210P |
possibly damaging |
Het |
| Klhl3 |
T |
G |
13: 58,161,662 (GRCm39) |
T531P |
probably damaging |
Het |
| Mapt |
C |
A |
11: 104,189,555 (GRCm39) |
P191Q |
possibly damaging |
Het |
| Myof |
A |
T |
19: 37,923,294 (GRCm39) |
C1320S |
probably damaging |
Het |
| Myom3 |
G |
T |
4: 135,513,199 (GRCm39) |
V626L |
probably benign |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,921 (GRCm39) |
L321P |
probably benign |
Het |
| Nhsl1 |
T |
A |
10: 18,399,749 (GRCm39) |
M291K |
probably damaging |
Het |
| Nubp2 |
C |
T |
17: 25,103,476 (GRCm39) |
V134I |
probably benign |
Het |
| Nuf2 |
T |
C |
1: 169,337,917 (GRCm39) |
I287V |
probably benign |
Het |
| Or1d2 |
T |
A |
11: 74,256,089 (GRCm39) |
M198K |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,421 (GRCm39) |
W149R |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,319,864 (GRCm39) |
L213P |
probably benign |
Het |
| Or51i2 |
A |
G |
7: 103,689,720 (GRCm39) |
N239S |
probably benign |
Het |
| Or55b4 |
A |
C |
7: 102,134,180 (GRCm39) |
V49G |
possibly damaging |
Het |
| Or5k3 |
G |
A |
16: 58,969,302 (GRCm39) |
V30M |
probably damaging |
Het |
| Or8k28 |
A |
T |
2: 86,285,845 (GRCm39) |
C257S |
probably benign |
Het |
| Pals1 |
G |
T |
12: 78,871,521 (GRCm39) |
R367L |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,100,571 (GRCm39) |
E863G |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,640,091 (GRCm39) |
T257M |
possibly damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,377,188 (GRCm39) |
I334V |
probably benign |
Het |
| Rnf180 |
T |
A |
13: 105,318,027 (GRCm39) |
K462* |
probably null |
Het |
| Sin3a |
A |
G |
9: 57,008,445 (GRCm39) |
D455G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,694,463 (GRCm39) |
|
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,227,915 (GRCm39) |
T426A |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,463,358 (GRCm39) |
K70R |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,807,303 (GRCm39) |
V182A |
unknown |
Het |
| Stim1 |
G |
A |
7: 102,064,592 (GRCm39) |
V221I |
possibly damaging |
Het |
| Tbx18 |
T |
C |
9: 87,609,432 (GRCm39) |
D201G |
probably damaging |
Het |
| Tcf25 |
A |
G |
8: 124,127,831 (GRCm39) |
E630G |
probably benign |
Het |
| Tm7sf3 |
T |
C |
6: 146,523,472 (GRCm39) |
N135S |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,014,429 (GRCm39) |
N560S |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,966,529 (GRCm39) |
|
probably null |
Het |
| Zfp445 |
A |
C |
9: 122,681,581 (GRCm39) |
S787A |
probably benign |
Het |
| Zfp949 |
T |
C |
9: 88,449,260 (GRCm39) |
W22R |
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 |
|
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 |
|
|
R9229:Myh9
|
UTSW |
15 |
77,675,017 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1088:Myh9
|
UTSW |
15 |
77,659,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCTAGCTGCCGTTTAAG -3'
(R):5'- ACAGCAGCTACTGAGTGTCC -3'
Sequencing Primer
(F):5'- GCCTTGTCAGCCTGCAGAAAC -3'
(R):5'- TGTCCAGGAAAGACTAGCACCTTAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation