Incidental Mutation 'R6975:2010315B03Rik'
| ID |
542426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2010315B03Rik
|
| Ensembl Gene |
ENSMUSG00000074829 |
| Gene Name |
RIKEN cDNA 2010315B03 gene |
| Synonyms |
|
| MMRRC Submission |
045085-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6975 (G1)
|
| Quality Score |
203.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
124054434-124075326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124056687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 100
(H100L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071300]
[ENSMUST00000177714]
[ENSMUST00000185949]
[ENSMUST00000189915]
|
| AlphaFold |
J3QK55 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071300
AA Change: H100L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000071269
Gene: ENSMUSG00000074829
AA Change: H100L
| 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: H79L
| 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: H104L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000140144
Gene: ENSMUSG00000074829
AA Change: H104L
| 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: H76L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| 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 |
|---|
| Apaf1 |
A |
T |
10: 90,856,596 (GRCm39) |
H870Q |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,623,068 (GRCm39) |
D358G |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,423,733 (GRCm39) |
S233C |
probably damaging |
Het |
| Ccdc158 |
A |
T |
5: 92,814,579 (GRCm39) |
Y82* |
probably null |
Het |
| Clba1 |
C |
T |
12: 112,773,217 (GRCm39) |
P70L |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,491,600 (GRCm39) |
D149G |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,133,608 (GRCm39) |
T83A |
probably benign |
Het |
| Endog |
A |
G |
2: 30,061,648 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,304,246 (GRCm39) |
E721G |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,751,518 (GRCm39) |
H2033R |
probably damaging |
Het |
| Gm12830 |
T |
C |
4: 114,702,246 (GRCm39) |
M136T |
|
Het |
| Gm6871 |
T |
C |
7: 41,196,202 (GRCm39) |
|
silent |
Het |
| Hoxc4 |
T |
C |
15: 102,944,098 (GRCm39) |
S159P |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,806,752 (GRCm39) |
R587G |
probably damaging |
Het |
| Ift70a2 |
A |
T |
2: 75,808,004 (GRCm39) |
Y169* |
probably null |
Het |
| Igf2bp2 |
T |
A |
16: 21,880,611 (GRCm39) |
Q494L |
probably null |
Het |
| Igfn1 |
T |
A |
1: 135,896,183 (GRCm39) |
N1461I |
probably damaging |
Het |
| Il23r |
C |
A |
6: 67,400,352 (GRCm39) |
K659N |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,755 (GRCm39) |
S161G |
possibly damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,773 (GRCm39) |
Q96L |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,642,057 (GRCm39) |
E802G |
probably damaging |
Het |
| Nutm1 |
G |
A |
2: 112,086,563 (GRCm39) |
S56F |
probably damaging |
Het |
| Or10x4 |
T |
A |
1: 174,219,243 (GRCm39) |
S203T |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,734,002 (GRCm39) |
N95S |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,220,152 (GRCm39) |
S331C |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,387,539 (GRCm39) |
R1818G |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,228,590 (GRCm39) |
I886N |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,611,062 (GRCm39) |
T362A |
probably damaging |
Het |
| Rarb |
A |
G |
14: 16,574,942 (GRCm38) |
S25P |
possibly damaging |
Het |
| Rnf121 |
A |
T |
7: 101,673,218 (GRCm39) |
|
probably null |
Het |
| Sae1 |
T |
C |
7: 16,070,712 (GRCm39) |
Y266C |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,838,031 (GRCm39) |
F85L |
probably damaging |
Het |
| Shank1 |
T |
A |
7: 43,962,530 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,842,499 (GRCm39) |
Y350C |
probably damaging |
Het |
| Sun2 |
G |
T |
15: 79,618,420 (GRCm39) |
Y246* |
probably null |
Het |
| Tas1r2 |
T |
A |
4: 139,397,031 (GRCm39) |
I790N |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,158,863 (GRCm39) |
T577A |
probably benign |
Het |
| Trim24 |
T |
G |
6: 37,896,427 (GRCm39) |
|
probably null |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Zbtb22 |
A |
C |
17: 34,136,938 (GRCm39) |
D361A |
probably damaging |
Het |
| Zfp276 |
T |
A |
8: 123,983,570 (GRCm39) |
C324* |
probably null |
Het |
| Zfp536 |
A |
G |
7: 37,267,952 (GRCm39) |
L488P |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- GATGACTGTGACGTGAATAGGC -3'
(R):5'- ATTGTCAAAGATGCCTAAGAACTCATA -3'
Sequencing Primer
(F):5'- TGACTTGCAAAGGCTGTACC -3'
(R):5'- TGCCTAAGAACTCATAATGAAGGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation