Incidental Mutation 'IGL01872:2010315B03Rik'
ID |
178769 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
2010315B03Rik
|
Ensembl Gene |
ENSMUSG00000074829 |
Gene Name |
RIKEN cDNA 2010315B03 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01872
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
124054434-124075326 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 124058120 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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
A |
G |
18: 65,437,824 (GRCm39) |
S1657P |
probably benign |
Het |
Alx4 |
A |
G |
2: 93,507,818 (GRCm39) |
N371S |
probably benign |
Het |
Cby1 |
T |
A |
15: 79,549,943 (GRCm39) |
W59R |
probably damaging |
Het |
Chmp1a |
A |
T |
8: 123,932,976 (GRCm39) |
L159Q |
probably damaging |
Het |
Ciz1 |
T |
C |
2: 32,268,121 (GRCm39) |
|
probably benign |
Het |
Cnksr1 |
A |
G |
4: 133,956,275 (GRCm39) |
I603T |
probably benign |
Het |
Dph1 |
A |
C |
11: 75,072,167 (GRCm39) |
F220C |
probably damaging |
Het |
Epha4 |
T |
A |
1: 77,359,676 (GRCm39) |
M726L |
probably benign |
Het |
Eps8l1 |
C |
T |
7: 4,475,295 (GRCm39) |
|
probably benign |
Het |
Fbxo24 |
C |
A |
5: 137,611,987 (GRCm39) |
R313L |
probably damaging |
Het |
Fgf4 |
C |
T |
7: 144,415,995 (GRCm39) |
R119* |
probably null |
Het |
Grb10 |
T |
C |
11: 11,920,547 (GRCm39) |
T24A |
probably damaging |
Het |
Ifi27l2a |
C |
T |
12: 103,401,719 (GRCm39) |
A2V |
probably damaging |
Het |
Ipmk |
T |
A |
10: 71,208,706 (GRCm39) |
M165K |
probably damaging |
Het |
Kcnk2 |
C |
T |
1: 188,988,780 (GRCm39) |
G266R |
probably damaging |
Het |
Mak |
A |
C |
13: 41,210,131 (GRCm39) |
M35R |
probably damaging |
Het |
Mlxipl |
A |
T |
5: 135,142,545 (GRCm39) |
I120F |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,381,814 (GRCm39) |
V1423A |
probably damaging |
Het |
Olfm4 |
T |
C |
14: 80,259,368 (GRCm39) |
*506Q |
probably null |
Het |
Opn4 |
T |
A |
14: 34,319,166 (GRCm39) |
|
probably benign |
Het |
Or13a26 |
T |
C |
7: 140,284,176 (GRCm39) |
L4P |
possibly damaging |
Het |
Or52ab2 |
T |
C |
7: 102,970,179 (GRCm39) |
V187A |
probably benign |
Het |
Or5g23 |
T |
A |
2: 85,438,673 (GRCm39) |
M194L |
probably benign |
Het |
Otof |
G |
A |
5: 30,536,598 (GRCm39) |
|
probably benign |
Het |
Pde5a |
G |
A |
3: 122,588,018 (GRCm39) |
|
probably null |
Het |
Pik3r1 |
A |
T |
13: 101,825,625 (GRCm39) |
D87E |
probably benign |
Het |
Rbm6 |
A |
T |
9: 107,660,914 (GRCm39) |
V883E |
probably damaging |
Het |
Rptn |
A |
G |
3: 93,304,154 (GRCm39) |
S496G |
probably benign |
Het |
Sap130 |
A |
G |
18: 31,807,473 (GRCm39) |
R427G |
probably damaging |
Het |
Slc26a4 |
T |
C |
12: 31,589,202 (GRCm39) |
S415G |
probably benign |
Het |
Slc5a1 |
T |
C |
5: 33,311,981 (GRCm39) |
S458P |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,748,167 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
T |
6: 48,431,623 (GRCm39) |
V639L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,729,077 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps54 |
G |
A |
11: 21,256,940 (GRCm39) |
A683T |
probably damaging |
Het |
Zfp354a |
A |
T |
11: 50,960,164 (GRCm39) |
N123I |
possibly damaging |
Het |
Zfpm2 |
T |
C |
15: 40,965,783 (GRCm39) |
V624A |
probably benign |
Het |
|
Other mutations in 2010315B03Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
|
|
|
Posted On |
2014-05-07 |