Incidental Mutation 'R2039:Myo1e'
| ID |
225431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1e
|
| Ensembl Gene |
ENSMUSG00000032220 |
| Gene Name |
myosin IE |
| Synonyms |
2310020N23Rik, 9130023P14Rik |
| MMRRC Submission |
040046-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70114632-70307048 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70227415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 162
(V162A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034745]
[ENSMUST00000214042]
|
| AlphaFold |
E9Q634 |
| PDB Structure |
MYOSIN 1E SH3 [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034745
AA Change: V162A
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034745
Gene: ENSMUSG00000032220
AA Change: V162A
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
13 |
693 |
N/A |
SMART |
|
Pfam:Myosin_TH1
|
719 |
917 |
1e-55 |
PFAM |
|
SH3
|
1053 |
1107 |
2.12e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214767
|
| Meta Mutation Damage Score |
0.2815 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for a gene trapped allele exhibit embryonic lethality, embryonic hemorrhaging and hematopoietic defects. Homozygotes for a knock-out allele show proteinuria, chronic renal injury, kidney inflammation, and defects in renal filtration and podocyte organization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
| Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
| Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
| Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
| Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
| Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
| Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
| Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
| Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
| Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
| Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
probably damaging |
Het |
|
| Other mutations in Myo1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Myo1e
|
APN |
9 |
70,249,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00833:Myo1e
|
APN |
9 |
70,246,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00973:Myo1e
|
APN |
9 |
70,246,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01011:Myo1e
|
APN |
9 |
70,223,871 (GRCm39) |
splice site |
probably benign |
|
|
IGL01401:Myo1e
|
APN |
9 |
70,234,448 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01402:Myo1e
|
APN |
9 |
70,245,048 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01404:Myo1e
|
APN |
9 |
70,245,048 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01613:Myo1e
|
APN |
9 |
70,248,555 (GRCm39) |
splice site |
probably benign |
|
|
IGL01738:Myo1e
|
APN |
9 |
70,266,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01819:Myo1e
|
APN |
9 |
70,250,322 (GRCm39) |
splice site |
probably benign |
|
|
IGL02233:Myo1e
|
APN |
9 |
70,291,081 (GRCm39) |
splice site |
probably benign |
|
|
IGL02244:Myo1e
|
APN |
9 |
70,274,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02440:Myo1e
|
APN |
9 |
70,254,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02806:Myo1e
|
APN |
9 |
70,269,552 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02886:Myo1e
|
APN |
9 |
70,276,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03178:Myo1e
|
APN |
9 |
70,194,231 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
I2288:Myo1e
|
UTSW |
9 |
70,249,379 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0036:Myo1e
|
UTSW |
9 |
70,248,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Myo1e
|
UTSW |
9 |
70,249,408 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0238:Myo1e
|
UTSW |
9 |
70,249,408 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0399:Myo1e
|
UTSW |
9 |
70,209,075 (GRCm39) |
splice site |
probably benign |
|
|
R0526:Myo1e
|
UTSW |
9 |
70,229,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0599:Myo1e
|
UTSW |
9 |
70,283,942 (GRCm39) |
splice site |
probably benign |
|
|
R0656:Myo1e
|
UTSW |
9 |
70,274,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1078:Myo1e
|
UTSW |
9 |
70,291,281 (GRCm39) |
missense |
probably benign |
|
|
R1278:Myo1e
|
UTSW |
9 |
70,306,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Myo1e
|
UTSW |
9 |
70,209,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1329:Myo1e
|
UTSW |
9 |
70,246,020 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1349:Myo1e
|
UTSW |
9 |
70,194,351 (GRCm39) |
splice site |
probably benign |
|
|
R1463:Myo1e
|
UTSW |
9 |
70,246,038 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1656:Myo1e
|
UTSW |
9 |
70,303,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Myo1e
|
UTSW |
9 |
70,283,806 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1789:Myo1e
|
UTSW |
9 |
70,246,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Myo1e
|
UTSW |
9 |
70,276,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Myo1e
|
UTSW |
9 |
70,285,997 (GRCm39) |
splice site |
probably benign |
|
|
R2029:Myo1e
|
UTSW |
9 |
70,275,969 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2076:Myo1e
|
UTSW |
9 |
70,291,159 (GRCm39) |
missense |
probably benign |
|
|
R2256:Myo1e
|
UTSW |
9 |
70,285,655 (GRCm39) |
splice site |
probably null |
|
|
R2257:Myo1e
|
UTSW |
9 |
70,285,655 (GRCm39) |
splice site |
probably null |
|
|
R2323:Myo1e
|
UTSW |
9 |
70,286,040 (GRCm39) |
nonsense |
probably null |
|
|
R2443:Myo1e
|
UTSW |
9 |
70,234,454 (GRCm39) |
missense |
probably benign |
|
|
R4023:Myo1e
|
UTSW |
9 |
70,232,157 (GRCm39) |
missense |
probably benign |
|
|
R4024:Myo1e
|
UTSW |
9 |
70,232,157 (GRCm39) |
missense |
probably benign |
|
|
R4025:Myo1e
|
UTSW |
9 |
70,232,157 (GRCm39) |
missense |
probably benign |
|
|
R4026:Myo1e
|
UTSW |
9 |
70,232,157 (GRCm39) |
missense |
probably benign |
|
|
R4151:Myo1e
|
UTSW |
9 |
70,204,633 (GRCm39) |
nonsense |
probably null |
|
|
R4764:Myo1e
|
UTSW |
9 |
70,250,417 (GRCm39) |
splice site |
probably null |
|
|
R4768:Myo1e
|
UTSW |
9 |
70,277,751 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4911:Myo1e
|
UTSW |
9 |
70,250,378 (GRCm39) |
missense |
probably benign |
|
|
R4995:Myo1e
|
UTSW |
9 |
70,260,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4999:Myo1e
|
UTSW |
9 |
70,260,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5228:Myo1e
|
UTSW |
9 |
70,229,640 (GRCm39) |
splice site |
probably null |
|
|
R5414:Myo1e
|
UTSW |
9 |
70,229,640 (GRCm39) |
splice site |
probably null |
|
|
R5577:Myo1e
|
UTSW |
9 |
70,277,753 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5851:Myo1e
|
UTSW |
9 |
70,291,086 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6208:Myo1e
|
UTSW |
9 |
70,283,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6907:Myo1e
|
UTSW |
9 |
70,234,437 (GRCm39) |
missense |
probably benign |
|
|
R7084:Myo1e
|
UTSW |
9 |
70,245,083 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7313:Myo1e
|
UTSW |
9 |
70,266,667 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7383:Myo1e
|
UTSW |
9 |
70,204,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7811:Myo1e
|
UTSW |
9 |
70,234,544 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7962:Myo1e
|
UTSW |
9 |
70,242,501 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8309:Myo1e
|
UTSW |
9 |
70,254,045 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8510:Myo1e
|
UTSW |
9 |
70,242,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8513:Myo1e
|
UTSW |
9 |
70,227,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Myo1e
|
UTSW |
9 |
70,291,172 (GRCm39) |
missense |
probably benign |
|
|
R8720:Myo1e
|
UTSW |
9 |
70,204,570 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9112:Myo1e
|
UTSW |
9 |
70,274,983 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9148:Myo1e
|
UTSW |
9 |
70,283,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9156:Myo1e
|
UTSW |
9 |
70,266,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9251:Myo1e
|
UTSW |
9 |
70,276,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9541:Myo1e
|
UTSW |
9 |
70,204,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9624:Myo1e
|
UTSW |
9 |
70,303,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Myo1e
|
UTSW |
9 |
70,223,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Myo1e
|
UTSW |
9 |
70,223,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Myo1e
|
UTSW |
9 |
70,285,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0065:Myo1e
|
UTSW |
9 |
70,285,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCCAGGACACATACATG -3'
(R):5'- CATCAACTGTAGGTTTCCTTACTG -3'
Sequencing Primer
(F):5'- GGACACATACATGACTGGATCCTC -3'
(R):5'- TCCTTACTGAAGTAACTCCAGGGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation