Incidental Mutation 'R8011:2010315B03Rik'
ID |
616914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
2010315B03Rik
|
Ensembl Gene |
ENSMUSG00000074829 |
Gene Name |
RIKEN cDNA 2010315B03 gene |
Synonyms |
|
MMRRC Submission |
046051-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R8011 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
124054434-124075326 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 124056529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 132
(E132K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071300]
[ENSMUST00000177714]
[ENSMUST00000185949]
[ENSMUST00000189915]
|
AlphaFold |
J3QK55 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071300
AA Change: E153K
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000071269 Gene: ENSMUSG00000074829 AA Change: E153K
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 |
|
SMART Domains |
Protein: ENSMUSP00000137258 Gene: ENSMUSG00000074829 AA Change: E132K
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
AA Change: E157K
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000140144 Gene: ENSMUSG00000074829 AA Change: E157K
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 |
|
SMART Domains |
Protein: ENSMUSP00000140738 Gene: ENSMUSG00000074829 AA Change: E129K
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
C |
2: 155,397,877 (GRCm39) |
I313T |
possibly damaging |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Ankrd27 |
T |
C |
7: 35,316,306 (GRCm39) |
V524A |
probably benign |
Het |
Cacna1e |
T |
C |
1: 154,341,568 (GRCm39) |
I1209V |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,414,860 (GRCm39) |
I29N |
possibly damaging |
Het |
Col5a1 |
G |
A |
2: 27,870,533 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
Edc3 |
C |
A |
9: 57,620,659 (GRCm39) |
|
probably benign |
Het |
Egflam |
A |
T |
15: 7,276,525 (GRCm39) |
M547K |
possibly damaging |
Het |
Fgr |
T |
C |
4: 132,725,790 (GRCm39) |
Y400H |
probably damaging |
Het |
Gaa |
C |
T |
11: 119,163,762 (GRCm39) |
P205S |
probably benign |
Het |
Gpr6 |
T |
A |
10: 40,946,911 (GRCm39) |
T224S |
probably benign |
Het |
Hes3 |
T |
C |
4: 152,371,938 (GRCm39) |
|
probably benign |
Het |
Hydin |
T |
C |
8: 111,310,541 (GRCm39) |
F4079S |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,894,849 (GRCm39) |
I366N |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,556,232 (GRCm39) |
V1171A |
probably damaging |
Het |
Kndc1 |
T |
A |
7: 139,490,536 (GRCm39) |
F346Y |
possibly damaging |
Het |
Lpin2 |
G |
A |
17: 71,537,370 (GRCm39) |
G306R |
probably benign |
Het |
Mok |
T |
C |
12: 110,781,351 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
T |
C |
19: 46,070,023 (GRCm39) |
V265A |
unknown |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or2ah1 |
T |
G |
2: 85,653,957 (GRCm39) |
L214R |
possibly damaging |
Het |
Or4c103 |
G |
A |
2: 88,513,537 (GRCm39) |
Q180* |
probably null |
Het |
Or5j1 |
A |
C |
2: 86,879,190 (GRCm39) |
L130R |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,418,997 (GRCm39) |
V160A |
possibly damaging |
Het |
Parp14 |
G |
A |
16: 35,677,004 (GRCm39) |
T988I |
probably benign |
Het |
Pdk1 |
A |
T |
2: 71,705,796 (GRCm39) |
Q81H |
probably benign |
Het |
Plekha6 |
A |
G |
1: 133,191,544 (GRCm39) |
T38A |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,722,472 (GRCm39) |
|
probably null |
Het |
Rgs6 |
A |
G |
12: 83,163,066 (GRCm39) |
D424G |
probably null |
Het |
Rnf13 |
T |
G |
3: 57,714,491 (GRCm39) |
Y183* |
probably null |
Het |
Ryr2 |
A |
T |
13: 11,603,026 (GRCm39) |
|
probably null |
Het |
Serpinb7 |
T |
A |
1: 107,362,487 (GRCm39) |
S64T |
possibly damaging |
Het |
Six2 |
T |
C |
17: 85,995,100 (GRCm39) |
E94G |
probably damaging |
Het |
Slc44a5 |
A |
G |
3: 153,953,447 (GRCm39) |
I276M |
possibly damaging |
Het |
Smco2 |
A |
G |
6: 146,769,633 (GRCm39) |
Y239C |
probably damaging |
Het |
Ssx2ip |
T |
C |
3: 146,128,666 (GRCm39) |
S148P |
probably damaging |
Het |
Tiam2 |
T |
C |
17: 3,498,671 (GRCm39) |
Y816H |
possibly damaging |
Het |
Tnk2 |
C |
T |
16: 32,487,183 (GRCm39) |
R127C |
probably benign |
Het |
Tpd52l1 |
T |
C |
10: 31,208,913 (GRCm39) |
N185S |
probably benign |
Het |
Try5 |
T |
C |
6: 41,290,421 (GRCm39) |
D21G |
probably benign |
Het |
Vmn2r20 |
A |
G |
6: 123,373,369 (GRCm39) |
V491A |
possibly damaging |
Het |
Vps54 |
G |
T |
11: 21,225,095 (GRCm39) |
R197L |
probably damaging |
Het |
Xkr5 |
G |
T |
8: 18,998,736 (GRCm39) |
Y27* |
probably null |
Het |
Zfp1004 |
A |
G |
2: 150,034,266 (GRCm39) |
S196G |
possibly damaging |
Het |
Zfp626 |
T |
A |
7: 27,518,140 (GRCm39) |
C374S |
possibly 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 |
|
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 |
|
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 |
PCR Primer
(F):5'- AGATGACTGTGACGTGAATAGGC -3'
(R):5'- TTGTCAAAGATGCCTAAGAACTCA -3'
Sequencing Primer
(F):5'- CTGTGACGTGAATAGGCTTTACCAC -3'
(R):5'- GTAAAGCTTTCACGTGTGCC -3'
|
Posted On |
2020-01-23 |