Incidental Mutation 'V5088:2510039O18Rik'
ID |
44062 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2510039O18Rik
|
Ensembl Gene |
ENSMUSG00000044496 |
Gene Name |
RIKEN cDNA 2510039O18 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
V5088 ()
of strain
521
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
148025352-148031771 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 148026233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 251
(S251F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103232]
|
AlphaFold |
Q91X21 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000103232
AA Change: S251F
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099522 Gene: ENSMUSG00000044496 AA Change: S251F
Domain | Start | End | E-Value | Type |
Pfam:DUF2152
|
6 |
629 |
2.9e-251 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 7 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8l |
C |
G |
17: 32,555,713 (GRCm39) |
|
probably null |
Het |
Ccar2 |
G |
T |
14: 70,388,738 (GRCm39) |
L158I |
probably damaging |
Het |
Megf11 |
C |
A |
9: 64,597,351 (GRCm39) |
C674* |
probably null |
Het |
Or2n1d |
A |
G |
17: 38,646,050 (GRCm39) |
M1V |
probably null |
Het |
Psme4 |
A |
G |
11: 30,801,210 (GRCm39) |
E1455G |
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Zbtb12 |
C |
A |
17: 35,115,277 (GRCm39) |
A354E |
possibly damaging |
Het |
|
Other mutations in 2510039O18Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01327:2510039O18Rik
|
APN |
4 |
148,029,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R1135:2510039O18Rik
|
UTSW |
4 |
148,029,115 (GRCm39) |
missense |
probably benign |
0.26 |
R1546:2510039O18Rik
|
UTSW |
4 |
148,026,232 (GRCm39) |
missense |
probably damaging |
0.97 |
R2008:2510039O18Rik
|
UTSW |
4 |
148,026,034 (GRCm39) |
missense |
probably benign |
0.31 |
R2437:2510039O18Rik
|
UTSW |
4 |
148,031,075 (GRCm39) |
makesense |
probably null |
|
R3937:2510039O18Rik
|
UTSW |
4 |
148,026,510 (GRCm39) |
missense |
possibly damaging |
0.54 |
R3970:2510039O18Rik
|
UTSW |
4 |
148,029,779 (GRCm39) |
missense |
probably damaging |
0.99 |
R3973:2510039O18Rik
|
UTSW |
4 |
148,029,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R3974:2510039O18Rik
|
UTSW |
4 |
148,029,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R4050:2510039O18Rik
|
UTSW |
4 |
148,029,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R4431:2510039O18Rik
|
UTSW |
4 |
148,026,022 (GRCm39) |
missense |
probably benign |
0.01 |
R4750:2510039O18Rik
|
UTSW |
4 |
148,025,945 (GRCm39) |
missense |
probably damaging |
0.99 |
R4943:2510039O18Rik
|
UTSW |
4 |
148,029,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R5139:2510039O18Rik
|
UTSW |
4 |
148,029,905 (GRCm39) |
missense |
probably damaging |
0.98 |
R6735:2510039O18Rik
|
UTSW |
4 |
148,026,274 (GRCm39) |
missense |
probably benign |
|
R7139:2510039O18Rik
|
UTSW |
4 |
148,026,295 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7689:2510039O18Rik
|
UTSW |
4 |
148,029,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R8307:2510039O18Rik
|
UTSW |
4 |
148,025,837 (GRCm39) |
missense |
probably benign |
0.00 |
R9336:2510039O18Rik
|
UTSW |
4 |
148,029,490 (GRCm39) |
missense |
probably benign |
0.01 |
R9591:2510039O18Rik
|
UTSW |
4 |
148,029,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R9618:2510039O18Rik
|
UTSW |
4 |
148,029,873 (GRCm39) |
nonsense |
probably null |
|
V5622:2510039O18Rik
|
UTSW |
4 |
148,026,233 (GRCm39) |
missense |
probably benign |
0.18 |
V5622:2510039O18Rik
|
UTSW |
4 |
148,026,233 (GRCm39) |
missense |
probably benign |
0.18 |
Z1088:2510039O18Rik
|
UTSW |
4 |
148,029,202 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGCTACGCCCGCTGAATGT -3'
(R):5'- GCCCAGAGGTACTGGTGATCCTGAA -3'
Sequencing Primer
(F):5'- GGGACTGCGTGCTACTG -3'
(R):5'- TACTGGTGATCCTGAAGCAGC -3'
|
Posted On |
2013-05-31 |