Incidental Mutation 'R1135:2510039O18Rik'
| ID |
94907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2510039O18Rik
|
| Ensembl Gene |
ENSMUSG00000044496 |
| Gene Name |
RIKEN cDNA 2510039O18 gene |
| Synonyms |
|
| MMRRC Submission |
039208-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
R1135 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
148025352-148031771 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 148029115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 362
(V362L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103232]
|
| AlphaFold |
Q91X21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103232
AA Change: V362L
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099522
Gene: ENSMUSG00000044496
AA Change: V362L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2152
|
6 |
629 |
2.9e-251 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
T |
A |
3: 152,359,299 (GRCm39) |
L166F |
probably damaging |
Het |
| Camk2a |
T |
A |
18: 61,090,468 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,839,498 (GRCm39) |
I643N |
probably damaging |
Het |
| Fibin |
G |
A |
2: 110,192,567 (GRCm39) |
H192Y |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,972,384 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
G |
1: 128,221,861 (GRCm39) |
|
probably null |
Het |
| Msantd2 |
A |
G |
9: 37,434,008 (GRCm39) |
I83V |
probably damaging |
Het |
| Myh10 |
A |
T |
11: 68,698,023 (GRCm39) |
M1622L |
probably benign |
Het |
| Nkx2-4 |
G |
T |
2: 146,926,328 (GRCm39) |
S178* |
probably null |
Het |
| Nox4 |
C |
T |
7: 86,972,997 (GRCm39) |
P335S |
probably damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,008,140 (GRCm39) |
R1085Q |
possibly damaging |
Het |
| Skint10 |
C |
T |
4: 112,568,660 (GRCm39) |
W352* |
probably null |
Het |
| Srsf4 |
T |
G |
4: 131,627,380 (GRCm39) |
|
probably benign |
Het |
| Sytl1 |
C |
T |
4: 132,984,281 (GRCm39) |
G274D |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,437,952 (GRCm39) |
I459N |
probably damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,372 (GRCm39) |
L204P |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,159 (GRCm39) |
T1145A |
probably benign |
Het |
| Wnk2 |
G |
A |
13: 49,230,034 (GRCm39) |
P830L |
probably 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 |
|
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 |
|
|
V5088:2510039O18Rik
|
UTSW |
4 |
148,026,233 (GRCm39) |
missense |
probably benign |
0.18 |
|
V5622:2510039O18Rik
|
UTSW |
4 |
148,026,233 (GRCm39) |
missense |
probably benign |
0.18 |
|
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'- GCCATCTCAGGAAGTAAGGACAGC -3'
(R):5'- TTTCTGTGAACTGTAGCCCGCC -3'
Sequencing Primer
(F):5'- CTCAGGAAGTAAGGACAGCTCTAC -3'
(R):5'- GGTCAACTTCCACAGGTCAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation