Incidental Mutation 'R4092:2010315B03Rik'
| ID |
317677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2010315B03Rik
|
| Ensembl Gene |
ENSMUSG00000074829 |
| Gene Name |
RIKEN cDNA 2010315B03 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4092 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
124054434-124075326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124055903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 340
(H340Q)
|
| 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
|
| 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
AA Change: H340Q
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000137258
Gene: ENSMUSG00000074829
AA Change: H340Q
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
T |
5: 8,145,004 (GRCm39) |
I116N |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,678,103 (GRCm39) |
V794E |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,265,140 (GRCm39) |
S966P |
probably benign |
Het |
| Alox5 |
G |
A |
6: 116,389,635 (GRCm39) |
|
probably benign |
Het |
| Bmerb1 |
G |
A |
16: 13,867,346 (GRCm39) |
R68H |
probably damaging |
Het |
| Brip1 |
C |
T |
11: 86,039,347 (GRCm39) |
D396N |
possibly damaging |
Het |
| Catsper3 |
C |
T |
13: 55,932,484 (GRCm39) |
H4Y |
probably benign |
Het |
| Cmtm2a |
T |
C |
8: 105,019,403 (GRCm39) |
Y62C |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,658,265 (GRCm39) |
C715R |
probably damaging |
Het |
| Dio3 |
A |
G |
12: 110,246,234 (GRCm39) |
D190G |
possibly damaging |
Het |
| Efl1 |
A |
G |
7: 82,412,035 (GRCm39) |
E808G |
probably benign |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,194 (GRCm39) |
N116K |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,398,943 (GRCm39) |
D720G |
probably benign |
Het |
| Fbp2 |
C |
T |
13: 62,988,174 (GRCm39) |
V246M |
possibly damaging |
Het |
| Gm10197 |
G |
A |
19: 53,360,196 (GRCm39) |
|
probably benign |
Het |
| Icam2 |
C |
A |
11: 106,271,623 (GRCm39) |
M1I |
probably null |
Het |
| Insyn2b |
G |
A |
11: 34,351,935 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,771,470 (GRCm39) |
I209T |
probably benign |
Het |
| Lcmt1 |
T |
C |
7: 123,017,476 (GRCm39) |
V200A |
probably damaging |
Het |
| Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
| Mmadhc |
A |
G |
2: 50,177,895 (GRCm39) |
M174T |
probably benign |
Het |
| N4bp2 |
A |
G |
5: 65,947,799 (GRCm39) |
N143S |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,196,405 (GRCm39) |
A340V |
possibly damaging |
Het |
| Nid1 |
A |
G |
13: 13,661,224 (GRCm39) |
D708G |
probably damaging |
Het |
| Noc2l |
A |
C |
4: 156,327,033 (GRCm39) |
T295P |
probably damaging |
Het |
| Nutm1 |
T |
A |
2: 112,079,809 (GRCm39) |
N702I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,946,886 (GRCm39) |
M4083L |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,790 (GRCm39) |
Y74C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,118 (GRCm39) |
I370N |
probably damaging |
Het |
| Paip1 |
T |
G |
13: 119,586,449 (GRCm39) |
S58A |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,884,775 (GRCm39) |
T476A |
probably benign |
Het |
| Plppr3 |
G |
T |
10: 79,703,314 (GRCm39) |
R57S |
probably damaging |
Het |
| Ptgir |
T |
C |
7: 16,640,932 (GRCm39) |
S75P |
probably damaging |
Het |
| Raver1 |
A |
T |
9: 20,992,568 (GRCm39) |
L287Q |
probably damaging |
Het |
| Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
T |
A |
9: 119,619,036 (GRCm39) |
M769L |
probably benign |
Het |
| Serpina16 |
G |
T |
12: 103,638,836 (GRCm39) |
H250Q |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,437,491 (GRCm39) |
G308D |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,851,893 (GRCm39) |
L673P |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,166 (GRCm39) |
K1036E |
possibly damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Sptbn5 |
C |
A |
2: 119,897,532 (GRCm39) |
E550D |
probably damaging |
Het |
| Srgap3 |
G |
T |
6: 112,700,045 (GRCm39) |
P1002T |
probably benign |
Het |
| Tollip |
C |
T |
7: 141,438,180 (GRCm39) |
R181H |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,330,784 (GRCm39) |
S600R |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,281,832 (GRCm39) |
Y315N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,551,037 (GRCm39) |
E367G |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- CTGTGGACAGTACTATGTTGTGCA -3'
(R):5'- ACAAATGTGGTAAAGCCTTTGC -3'
Sequencing Primer
(F):5'- ATTCATAGGGTTTCTCTCCAGTATG -3'
(R):5'- GCTTTTCATAGTCATTTCCAAAGAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation