Incidental Mutation 'R0966:2310061N02Rik'
| ID |
84066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2310061N02Rik
|
| Ensembl Gene |
ENSMUSG00000050704 |
| Gene Name |
RIKEN cDNA 2310061N02 gene |
| Synonyms |
|
| MMRRC Submission |
039095-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0966 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
88504059-88504850 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88504310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 162
(R162S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050882]
|
| AlphaFold |
Q9D6S9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050882
AA Change: R162S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062074
Gene: ENSMUSG00000050704
AA Change: R162S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMG
|
1 |
169 |
1.7e-58 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10 |
T |
G |
8: 14,990,343 (GRCm39) |
S272A |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,915,538 (GRCm39) |
S676R |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,747,075 (GRCm39) |
V471A |
possibly damaging |
Het |
| Fzd8 |
A |
T |
18: 9,214,745 (GRCm39) |
E609V |
probably damaging |
Het |
| Gm10110 |
A |
C |
14: 90,135,555 (GRCm39) |
|
noncoding transcript |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Igf2bp2 |
C |
T |
16: 21,907,840 (GRCm39) |
R19Q |
probably damaging |
Het |
| Mmp16 |
C |
G |
4: 18,115,930 (GRCm39) |
N511K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,131,816 (GRCm39) |
H460R |
probably damaging |
Het |
| Or52a5 |
T |
A |
7: 103,426,656 (GRCm39) |
T299S |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,112,504 (GRCm39) |
F594L |
probably damaging |
Het |
| Prkca |
T |
A |
11: 107,905,110 (GRCm39) |
K209N |
possibly damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,673,299 (GRCm39) |
F413S |
probably benign |
Het |
| Ugt1a6b |
G |
A |
1: 88,034,850 (GRCm39) |
V63I |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vps36 |
G |
A |
8: 22,696,833 (GRCm39) |
W131* |
probably null |
Het |
| Wdr3 |
A |
T |
3: 100,068,385 (GRCm39) |
V41E |
probably damaging |
Het |
|
| Other mutations in 2310061N02Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0127:2310061N02Rik
|
UTSW |
16 |
88,504,342 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1834:2310061N02Rik
|
UTSW |
16 |
88,504,786 (GRCm39) |
missense |
unknown |
|
|
R1854:2310061N02Rik
|
UTSW |
16 |
88,504,668 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4792:2310061N02Rik
|
UTSW |
16 |
88,504,651 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5431:2310061N02Rik
|
UTSW |
16 |
88,504,426 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5896:2310061N02Rik
|
UTSW |
16 |
88,504,321 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6416:2310061N02Rik
|
UTSW |
16 |
88,504,779 (GRCm39) |
missense |
unknown |
|
|
R6737:2310061N02Rik
|
UTSW |
16 |
88,504,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7629:2310061N02Rik
|
UTSW |
16 |
88,504,293 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0021:2310061N02Rik
|
UTSW |
16 |
88,504,785 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACCAACCCTGATGCAATGTC -3'
(R):5'- TACCGTCCAAGTGTGTCCAGCTTC -3'
Sequencing Primer
(F):5'- CGTACACGCTCCAAGAATTTATG -3'
(R):5'- TTGCAGGGCCACATATGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation