Incidental Mutation 'R3016:2810408A11Rik'
| ID |
265713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2810408A11Rik
|
| Ensembl Gene |
ENSMUSG00000018570 |
| Gene Name |
RIKEN cDNA 2810408A11 gene |
| Synonyms |
|
| MMRRC Submission |
040537-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R3016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69788178-69791813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69790048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 74
(D74G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001631]
[ENSMUST00000018714]
[ENSMUST00000061837]
[ENSMUST00000100969]
[ENSMUST00000102580]
[ENSMUST00000108617]
[ENSMUST00000108621]
[ENSMUST00000128046]
[ENSMUST00000129234]
[ENSMUST00000177476]
[ENSMUST00000129475]
[ENSMUST00000177138]
[ENSMUST00000133203]
[ENSMUST00000144431]
|
| AlphaFold |
Q6NSU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001631
|
| SMART Domains |
Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
5 |
240 |
2.1e-68 |
PFAM |
|
PH
|
266 |
362 |
4.42e-15 |
SMART |
|
ArfGap
|
405 |
527 |
2.42e-50 |
SMART |
|
ANK
|
606 |
635 |
4.01e0 |
SMART |
|
ANK
|
639 |
668 |
3.04e0 |
SMART |
|
ANK
|
672 |
702 |
4.18e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018714
AA Change: D231G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018714
Gene: ENSMUSG00000018570
AA Change: D231G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
Pfam:IPP-2
|
150 |
277 |
1.3e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061837
|
| SMART Domains |
Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
|
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
|
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
|
NEUZ
|
317 |
442 |
7.22e-52 |
SMART |
|
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
|
NEUZ
|
520 |
644 |
6.15e-46 |
SMART |
|
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
|
NEUZ
|
716 |
840 |
7.81e-39 |
SMART |
|
NEUZ
|
913 |
1043 |
2.27e-17 |
SMART |
|
low complexity region
|
1108 |
1117 |
N/A |
INTRINSIC |
|
NEUZ
|
1130 |
1250 |
4.93e-6 |
SMART |
|
low complexity region
|
1453 |
1464 |
N/A |
INTRINSIC |
|
low complexity region
|
1474 |
1483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100969
AA Change: T221A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000098529
Gene: ENSMUSG00000018570
AA Change: T221A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
Pfam:IPP-2
|
150 |
272 |
5.7e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102580
AA Change: D231G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099640
Gene: ENSMUSG00000018570
AA Change: D231G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
Pfam:IPP-2
|
153 |
270 |
6.2e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108617
|
| SMART Domains |
Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
|
NEUZ
|
47 |
165 |
3.5e-31 |
SMART |
|
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
|
NEUZ
|
295 |
420 |
2.5e-54 |
SMART |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
NEUZ
|
498 |
622 |
2e-48 |
SMART |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
NEUZ
|
694 |
818 |
2.6e-41 |
SMART |
|
NEUZ
|
891 |
1021 |
7.6e-20 |
SMART |
|
low complexity region
|
1086 |
1095 |
N/A |
INTRINSIC |
|
NEUZ
|
1108 |
1228 |
1.7e-8 |
SMART |
|
low complexity region
|
1431 |
1442 |
N/A |
INTRINSIC |
|
low complexity region
|
1452 |
1461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108621
AA Change: D231G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104261
Gene: ENSMUSG00000018570
AA Change: D231G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
Pfam:IPP-2
|
150 |
277 |
1.3e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128046
AA Change: D74G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137547
Gene: ENSMUSG00000018570
AA Change: D74G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IPP-2
|
1 |
77 |
1.7e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177160
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129234
|
| SMART Domains |
Protein: ENSMUSP00000136835
Gene: ENSMUSG00000018570
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177476
|
| SMART Domains |
Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
|
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
|
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
|
NEUZ
|
317 |
442 |
7.22e-52 |
SMART |
|
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
|
NEUZ
|
520 |
644 |
6.15e-46 |
SMART |
|
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
|
NEUZ
|
716 |
840 |
7.81e-39 |
SMART |
|
NEUZ
|
911 |
1041 |
2.27e-17 |
SMART |
|
low complexity region
|
1106 |
1115 |
N/A |
INTRINSIC |
|
NEUZ
|
1128 |
1248 |
4.93e-6 |
SMART |
|
low complexity region
|
1451 |
1462 |
N/A |
INTRINSIC |
|
low complexity region
|
1472 |
1481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129475
|
| SMART Domains |
Protein: ENSMUSP00000135733
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
NEUZ
|
1 |
119 |
4.22e-44 |
SMART |
|
low complexity region
|
169 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
201 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
206 |
246 |
1.46e-10 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177138
|
| SMART Domains |
Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
|
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
|
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
|
NEUZ
|
295 |
420 |
7.22e-52 |
SMART |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
NEUZ
|
498 |
622 |
6.15e-46 |
SMART |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
NEUZ
|
694 |
818 |
7.81e-39 |
SMART |
|
NEUZ
|
889 |
1019 |
2.27e-17 |
SMART |
|
low complexity region
|
1084 |
1093 |
N/A |
INTRINSIC |
|
NEUZ
|
1106 |
1226 |
4.93e-6 |
SMART |
|
low complexity region
|
1429 |
1440 |
N/A |
INTRINSIC |
|
low complexity region
|
1450 |
1459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133203
|
| SMART Domains |
Protein: ENSMUSP00000117917
Gene: ENSMUSG00000047284
| Domain | Start | End | E-Value | Type |
|---|
|
NEUZ
|
60 |
185 |
7.22e-52 |
SMART |
|
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
NEUZ
|
263 |
387 |
6.15e-46 |
SMART |
|
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
|
NEUZ
|
459 |
583 |
7.81e-39 |
SMART |
|
NEUZ
|
656 |
786 |
2.27e-17 |
SMART |
|
low complexity region
|
851 |
860 |
N/A |
INTRINSIC |
|
Pfam:Neuralized
|
875 |
942 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144431
|
| SMART Domains |
Protein: ENSMUSP00000135926
Gene: ENSMUSG00000018570
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh8 |
G |
T |
9: 3,369,658 (GRCm39) |
S309I |
probably benign |
Het |
| Asgr2 |
A |
T |
11: 69,996,235 (GRCm39) |
I226F |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,833,208 (GRCm39) |
E1690G |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,513,687 (GRCm39) |
V71A |
probably benign |
Het |
| Foxo3 |
G |
T |
10: 42,073,352 (GRCm39) |
D388E |
probably benign |
Het |
| Gna14 |
A |
T |
19: 16,580,746 (GRCm39) |
I195F |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,869,839 (GRCm39) |
D1463G |
probably damaging |
Het |
| Idi2 |
T |
C |
13: 9,009,466 (GRCm39) |
*228R |
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lag3 |
A |
G |
6: 124,885,429 (GRCm39) |
V317A |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or2aj4 |
A |
G |
16: 19,385,141 (GRCm39) |
L164P |
probably damaging |
Het |
| Or8g53 |
A |
T |
9: 39,683,979 (GRCm39) |
V39E |
probably benign |
Het |
| Padi3 |
G |
T |
4: 140,513,898 (GRCm39) |
F593L |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,232,766 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
G |
A |
18: 63,175,903 (GRCm39) |
T1826I |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,408,766 (GRCm39) |
A2418T |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,268,836 (GRCm39) |
M111T |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,193,200 (GRCm39) |
S1901P |
possibly damaging |
Het |
| Rapgef1 |
G |
A |
2: 29,597,405 (GRCm39) |
R588Q |
probably damaging |
Het |
| Tmed6 |
A |
G |
8: 107,792,069 (GRCm39) |
F59L |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,531,757 (GRCm39) |
D431G |
probably damaging |
Het |
|
| Other mutations in 2810408A11Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0180:2810408A11Rik
|
UTSW |
11 |
69,789,702 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1774:2810408A11Rik
|
UTSW |
11 |
69,791,453 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2034:2810408A11Rik
|
UTSW |
11 |
69,791,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2085:2810408A11Rik
|
UTSW |
11 |
69,791,198 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4580:2810408A11Rik
|
UTSW |
11 |
69,791,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:2810408A11Rik
|
UTSW |
11 |
69,791,403 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5868:2810408A11Rik
|
UTSW |
11 |
69,788,401 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6129:2810408A11Rik
|
UTSW |
11 |
69,789,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:2810408A11Rik
|
UTSW |
11 |
69,790,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8726:2810408A11Rik
|
UTSW |
11 |
69,789,207 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCTCTCTTCCTCAGTGGG -3'
(R):5'- GCCTAACCAAAGCTGATCTAGGC -3'
Sequencing Primer
(F):5'- GGGGACTTTAGGAACTTCCC -3'
(R):5'- AGCTGATCTAGGCAATCAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation