Incidental Mutation 'R6793:2010315B03Rik'
| ID |
532703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2010315B03Rik
|
| Ensembl Gene |
ENSMUSG00000074829 |
| Gene Name |
RIKEN cDNA 2010315B03 gene |
| Synonyms |
|
| MMRRC Submission |
044906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6793 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
124054434-124075326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124058052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 19
(N19K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071300]
[ENSMUST00000177714]
[ENSMUST00000185949]
[ENSMUST00000189915]
|
| AlphaFold |
J3QK55 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071300
AA Change: N43K
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071269
Gene: ENSMUSG00000074829
AA Change: N43K
| 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 |
unknown
Transcript: ENSMUST00000177714
AA Change: N22K
|
| SMART Domains |
Protein: ENSMUSP00000137258
Gene: ENSMUSG00000074829
AA Change: N22K
| 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: N47K
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140144
Gene: ENSMUSG00000074829
AA Change: N47K
| 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 |
possibly damaging
Transcript: ENSMUST00000189915
AA Change: N19K
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140738
Gene: ENSMUSG00000074829
AA Change: N19K
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
A |
6: 128,523,292 (GRCm39) |
Q1215* |
probably null |
Het |
| Abraxas2 |
T |
C |
7: 132,476,563 (GRCm39) |
I98T |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,413,371 (GRCm39) |
T1181I |
probably damaging |
Het |
| Bsn |
T |
A |
9: 107,991,814 (GRCm39) |
K1313* |
probably null |
Het |
| Chst4 |
A |
T |
8: 110,756,699 (GRCm39) |
V388D |
probably damaging |
Het |
| Ckap5 |
T |
G |
2: 91,399,054 (GRCm39) |
W613G |
probably damaging |
Het |
| Clock |
GACTCACT |
GACT |
5: 76,384,967 (GRCm39) |
|
probably null |
Het |
| Enpp1 |
T |
C |
10: 24,531,723 (GRCm39) |
D520G |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,593,818 (GRCm39) |
N90S |
probably benign |
Het |
| Esp36 |
A |
T |
17: 38,728,005 (GRCm39) |
M92K |
unknown |
Het |
| Fam135a |
A |
G |
1: 24,107,006 (GRCm39) |
V44A |
possibly damaging |
Het |
| Fndc8 |
T |
C |
11: 82,788,412 (GRCm39) |
S81P |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,819,838 (GRCm39) |
N5190K |
probably benign |
Het |
| Gabrr1 |
T |
G |
4: 33,162,712 (GRCm39) |
V426G |
possibly damaging |
Het |
| Igkv6-15 |
T |
A |
6: 70,383,976 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrc36 |
A |
G |
8: 106,185,065 (GRCm39) |
E614G |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,539,913 (GRCm39) |
I176K |
possibly damaging |
Het |
| Mapk4 |
T |
A |
18: 74,063,539 (GRCm39) |
N561I |
probably damaging |
Het |
| Med15 |
A |
T |
16: 17,470,567 (GRCm39) |
|
probably benign |
Het |
| Mfsd2a |
A |
G |
4: 122,844,498 (GRCm39) |
V258A |
probably benign |
Het |
| Micu3 |
G |
A |
8: 40,833,736 (GRCm39) |
V457I |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,880,387 (GRCm39) |
V291E |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,157,827 (GRCm39) |
I355T |
probably damaging |
Het |
| Or51s1 |
A |
G |
7: 102,558,935 (GRCm39) |
V37A |
probably benign |
Het |
| Or52ad1 |
T |
C |
7: 102,995,473 (GRCm39) |
T221A |
probably benign |
Het |
| Otub2 |
A |
G |
12: 103,355,278 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,466,971 (GRCm39) |
S1666P |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,155,234 (GRCm39) |
V651E |
probably damaging |
Het |
| Pomt1 |
T |
C |
2: 32,132,961 (GRCm39) |
F186L |
probably damaging |
Het |
| Prl3d3 |
G |
A |
13: 27,345,044 (GRCm39) |
A140T |
probably benign |
Het |
| Ptprn |
G |
A |
1: 75,234,786 (GRCm39) |
T267I |
probably benign |
Het |
| Qrfprl |
C |
T |
6: 65,358,405 (GRCm39) |
A43V |
probably benign |
Het |
| Rhbdd2 |
T |
A |
5: 135,665,008 (GRCm39) |
I113N |
probably damaging |
Het |
| Saraf |
T |
A |
8: 34,635,767 (GRCm39) |
|
probably null |
Het |
| Slc41a2 |
T |
C |
10: 83,137,022 (GRCm39) |
|
probably null |
Het |
| Slc47a1 |
A |
G |
11: 61,250,229 (GRCm39) |
V352A |
probably benign |
Het |
| Tmem237 |
T |
C |
1: 59,153,375 (GRCm39) |
T49A |
probably benign |
Het |
| Tmem273 |
A |
C |
14: 32,528,778 (GRCm39) |
I48L |
probably benign |
Het |
| Tmprss11e |
C |
T |
5: 86,863,414 (GRCm39) |
C217Y |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,667,103 (GRCm39) |
V140A |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,516,669 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,574,844 (GRCm39) |
I1028F |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,539,968 (GRCm39) |
T1479M |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,243,867 (GRCm39) |
R767L |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,065,297 (GRCm39) |
Y1290* |
probably null |
Het |
| Zfp970 |
G |
A |
2: 177,167,338 (GRCm39) |
C304Y |
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 |
|
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 |
PCR Primer
(F):5'- GTGAACGTTAGAACAATGCTTGATTT -3'
(R):5'- ACCCAGACTGCCCATCATT -3'
Sequencing Primer
(F):5'- GAACAATGCTTGATTTATTCACCTC -3'
(R):5'- GCAAGGCTATATCCTATTCAAAGGGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation