Incidental Mutation 'R0798:2010315B03Rik'
ID |
76493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2010315B03Rik
|
Ensembl Gene |
ENSMUSG00000074829 |
Gene Name |
RIKEN cDNA 2010315B03 gene |
Synonyms |
|
MMRRC Submission |
038978-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R0798 (G1)
|
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: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (30/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
T |
A |
9: 89,034,880 (GRCm39) |
|
noncoding transcript |
Het |
Baz2a |
T |
A |
10: 127,962,192 (GRCm39) |
|
probably benign |
Het |
Bcar3 |
T |
C |
3: 122,318,948 (GRCm39) |
V695A |
probably benign |
Het |
C130074G19Rik |
G |
A |
1: 184,614,873 (GRCm39) |
|
probably benign |
Het |
Cmas |
T |
C |
6: 142,710,382 (GRCm39) |
V167A |
probably damaging |
Het |
Crppa |
G |
A |
12: 36,571,998 (GRCm39) |
R302H |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,928,343 (GRCm39) |
E234G |
probably damaging |
Het |
Gopc |
C |
T |
10: 52,234,907 (GRCm39) |
G79S |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,785,431 (GRCm39) |
|
probably null |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kcnq5 |
A |
G |
1: 22,031,399 (GRCm39) |
|
probably null |
Het |
Lpp |
G |
T |
16: 24,790,622 (GRCm39) |
G29* |
probably null |
Het |
Ly6g6e |
T |
C |
17: 35,297,017 (GRCm39) |
F86S |
probably benign |
Het |
Myo5c |
T |
C |
9: 75,165,266 (GRCm39) |
F358S |
probably damaging |
Het |
Nlgn1 |
A |
G |
3: 25,488,410 (GRCm39) |
Y613H |
probably benign |
Het |
Or4k38 |
T |
C |
2: 111,165,689 (GRCm39) |
I245V |
probably benign |
Het |
Or7e178 |
A |
T |
9: 20,225,495 (GRCm39) |
Y232* |
probably null |
Het |
Plekhn1 |
T |
A |
4: 156,312,720 (GRCm39) |
D46V |
probably damaging |
Het |
Ptp4a1 |
A |
T |
1: 30,984,005 (GRCm39) |
|
probably benign |
Het |
Rab23 |
A |
T |
1: 33,773,908 (GRCm39) |
I123F |
probably damaging |
Het |
Samd4b |
G |
A |
7: 28,101,048 (GRCm39) |
|
probably benign |
Het |
Shisa4 |
G |
A |
1: 135,300,886 (GRCm39) |
|
probably benign |
Het |
Slc39a11 |
C |
T |
11: 113,414,330 (GRCm39) |
A90T |
probably benign |
Het |
Tas1r2 |
T |
C |
4: 139,397,024 (GRCm39) |
Y788H |
probably damaging |
Het |
Tasor |
T |
A |
14: 27,198,593 (GRCm39) |
F1308L |
probably damaging |
Het |
Tial1 |
C |
T |
7: 128,045,602 (GRCm39) |
M327I |
probably benign |
Het |
Ubr2 |
C |
T |
17: 47,280,102 (GRCm39) |
|
probably benign |
Het |
Utp4 |
T |
C |
8: 107,648,858 (GRCm39) |
S630P |
probably benign |
Het |
Vmn1r212 |
T |
C |
13: 23,067,868 (GRCm39) |
N155S |
probably damaging |
Het |
Zmym6 |
C |
T |
4: 126,997,316 (GRCm39) |
P312S |
probably benign |
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 |
|
P4748:2010315B03Rik
|
UTSW |
9 |
124,057,789 (GRCm39) |
critical splice acceptor 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 |
|
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 |
2013-10-16 |