Incidental Mutation 'P4748:2010315B03Rik'
| ID |
26543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2010315B03Rik
|
| Ensembl Gene |
ENSMUSG00000074829 |
| Gene Name |
RIKEN cDNA 2010315B03 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
P4748 ()
of strain
712
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
124054434-124075326 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 124057789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071300]
[ENSMUST00000177714]
[ENSMUST00000185949]
[ENSMUST00000189915]
|
| AlphaFold |
J3QK55 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071300
|
| SMART Domains |
Protein: ENSMUSP00000071269
Gene: ENSMUSG00000074829
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
24 |
86 |
5.28e-14 |
SMART |
|
ZnF_C2H2
|
95 |
117 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
123 |
145 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
151 |
173 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
179 |
201 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
207 |
229 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
235 |
257 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
263 |
285 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
291 |
312 |
6.08e0 |
SMART |
|
ZnF_C2H2
|
318 |
340 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
346 |
368 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
374 |
396 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
402 |
424 |
9.58e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177714
|
| SMART Domains |
Protein: ENSMUSP00000137258
Gene: ENSMUSG00000074829
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
28 |
90 |
5.28e-14 |
SMART |
|
ZnF_C2H2
|
99 |
121 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
127 |
149 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
155 |
177 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
4.24e-4 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
295 |
316 |
6.08e0 |
SMART |
|
ZnF_C2H2
|
322 |
344 |
8.6e-5 |
SMART |
|
ZnF_C2H2
|
350 |
372 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
9.58e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185949
|
| SMART Domains |
Protein: ENSMUSP00000140144
Gene: ENSMUSG00000074829
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
29 |
91 |
2.3e-16 |
SMART |
|
ZnF_C2H2
|
100 |
122 |
2.5e-5 |
SMART |
|
ZnF_C2H2
|
128 |
150 |
5.3e-5 |
SMART |
|
ZnF_C2H2
|
156 |
175 |
5.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189915
|
| SMART Domains |
Protein: ENSMUSP00000140738
Gene: ENSMUSG00000074829
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
1 |
63 |
2.3e-16 |
SMART |
|
ZnF_C2H2
|
72 |
94 |
2.5e-5 |
SMART |
|
ZnF_C2H2
|
100 |
122 |
5.3e-5 |
SMART |
|
ZnF_C2H2
|
128 |
150 |
1.2e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.5%
- 20x: 94.5%
|
| Validation Efficiency |
87% (26/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
| Acoxl |
T |
C |
2: 127,928,264 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
| Akap10 |
A |
G |
11: 61,763,846 (GRCm39) |
L662P |
possibly damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,978,925 (GRCm39) |
T64M |
possibly damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,906 (GRCm39) |
G53D |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,713,176 (GRCm39) |
|
probably benign |
Het |
| Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,210,983 (GRCm39) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,594,219 (GRCm39) |
P583L |
probably damaging |
Het |
| Klra8 |
A |
T |
6: 130,099,007 (GRCm39) |
D185E |
possibly damaging |
Het |
| Meis2 |
T |
A |
2: 115,694,961 (GRCm39) |
Q394L |
probably benign |
Het |
| Or2t47 |
G |
A |
11: 58,442,348 (GRCm39) |
T239I |
probably damaging |
Het |
| Pzp |
C |
T |
6: 128,467,052 (GRCm39) |
G1107D |
probably damaging |
Het |
| Ralgapa2 |
C |
T |
2: 146,188,731 (GRCm39) |
W1350* |
probably null |
Het |
| Scand1 |
C |
A |
2: 156,153,865 (GRCm39) |
R135L |
probably damaging |
Het |
| Spopl |
A |
T |
2: 23,401,455 (GRCm39) |
M351K |
probably benign |
Het |
| Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Usp51 |
GATGCAT |
GAT |
X: 151,791,227 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
T |
11: 69,453,031 (GRCm39) |
D425E |
probably damaging |
Het |
|
| Other mutations in 2010315B03Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01872:2010315B03Rik
|
APN |
9 |
124,058,120 (GRCm39) |
splice site |
probably benign |
|
|
R0090:2010315B03Rik
|
UTSW |
9 |
124,057,789 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0122:2010315B03Rik
|
UTSW |
9 |
124,057,789 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0140:2010315B03Rik
|
UTSW |
9 |
124,057,789 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0164:2010315B03Rik
|
UTSW |
9 |
124,057,789 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0164:2010315B03Rik
|
UTSW |
9 |
124,057,789 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0388:2010315B03Rik
|
UTSW |
9 |
124,057,789 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0775:2010315B03Rik
|
UTSW |
9 |
124,057,789 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0798:2010315B03Rik
|
UTSW |
9 |
124,057,789 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1467:2010315B03Rik
|
UTSW |
9 |
124,058,093 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1569:2010315B03Rik
|
UTSW |
9 |
124,056,427 (GRCm39) |
nonsense |
probably null |
|
|
R2566:2010315B03Rik
|
UTSW |
9 |
124,055,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2566:2010315B03Rik
|
UTSW |
9 |
124,055,701 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3853:2010315B03Rik
|
UTSW |
9 |
124,055,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4092:2010315B03Rik
|
UTSW |
9 |
124,055,903 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4109:2010315B03Rik
|
UTSW |
9 |
124,057,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4646:2010315B03Rik
|
UTSW |
9 |
124,056,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4648:2010315B03Rik
|
UTSW |
9 |
124,056,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4705:2010315B03Rik
|
UTSW |
9 |
124,056,631 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4764:2010315B03Rik
|
UTSW |
9 |
124,056,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5110:2010315B03Rik
|
UTSW |
9 |
124,057,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5117:2010315B03Rik
|
UTSW |
9 |
124,055,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5162:2010315B03Rik
|
UTSW |
9 |
124,056,301 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5226:2010315B03Rik
|
UTSW |
9 |
124,056,706 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5426:2010315B03Rik
|
UTSW |
9 |
124,056,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6793:2010315B03Rik
|
UTSW |
9 |
124,058,052 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6975:2010315B03Rik
|
UTSW |
9 |
124,056,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7213:2010315B03Rik
|
UTSW |
9 |
124,056,530 (GRCm39) |
nonsense |
probably null |
|
|
R8011:2010315B03Rik
|
UTSW |
9 |
124,056,529 (GRCm39) |
missense |
|
|
|
R8086:2010315B03Rik
|
UTSW |
9 |
124,055,808 (GRCm39) |
missense |
|
|
|
R8117:2010315B03Rik
|
UTSW |
9 |
124,058,078 (GRCm39) |
missense |
|
|
|
R8363:2010315B03Rik
|
UTSW |
9 |
124,055,800 (GRCm39) |
missense |
|
|
|
R8941:2010315B03Rik
|
UTSW |
9 |
124,056,679 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9523:2010315B03Rik
|
UTSW |
9 |
124,056,652 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
|
| Posted On |
2013-04-16 |
Incidental Mutation