Incidental Mutation 'R1013:Bicdl2'
| ID |
95917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bicdl2
|
| Ensembl Gene |
ENSMUSG00000043782 |
| Gene Name |
BICD family like cargo adaptor 2 |
| Synonyms |
Ccdc64b |
| MMRRC Submission |
039117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R1013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23879480-23887595 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 23884377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047436]
[ENSMUST00000062967]
[ENSMUST00000095579]
[ENSMUST00000115489]
[ENSMUST00000115490]
[ENSMUST00000138190]
|
| AlphaFold |
Q8CHW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047436
|
| SMART Domains |
Protein: ENSMUSP00000038137
Gene: ENSMUSG00000041319
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
51 |
2e-18 |
BLAST |
|
WD40
|
65 |
101 |
2.67e-1 |
SMART |
|
Blast:WD40
|
119 |
154 |
1e-11 |
BLAST |
|
WD40
|
157 |
196 |
1.28e-6 |
SMART |
|
Blast:WD40
|
200 |
245 |
2e-25 |
BLAST |
|
WD40
|
248 |
284 |
7.36e1 |
SMART |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000062967
AA Change: N100D
|
| SMART Domains |
Protein: ENSMUSP00000053808
Gene: ENSMUSG00000043782
AA Change: N100D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
coiled coil region
|
63 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
312 |
N/A |
INTRINSIC |
|
coiled coil region
|
354 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095579
|
| SMART Domains |
Protein: ENSMUSP00000093239
Gene: ENSMUSG00000041319
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
51 |
2e-18 |
BLAST |
|
WD40
|
65 |
101 |
2.67e-1 |
SMART |
|
Blast:WD40
|
119 |
154 |
1e-11 |
BLAST |
|
WD40
|
157 |
196 |
1.28e-6 |
SMART |
|
Blast:WD40
|
200 |
245 |
2e-25 |
BLAST |
|
WD40
|
248 |
284 |
7.36e1 |
SMART |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115489
|
| SMART Domains |
Protein: ENSMUSP00000111152
Gene: ENSMUSG00000041319
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
11 |
47 |
6e-18 |
BLAST |
|
WD40
|
61 |
97 |
2.67e-1 |
SMART |
|
Blast:WD40
|
115 |
150 |
8e-12 |
BLAST |
|
WD40
|
153 |
192 |
1.28e-6 |
SMART |
|
Blast:WD40
|
196 |
241 |
3e-25 |
BLAST |
|
WD40
|
244 |
280 |
7.36e1 |
SMART |
|
low complexity region
|
290 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115490
|
| SMART Domains |
Protein: ENSMUSP00000111153
Gene: ENSMUSG00000041319
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
51 |
7e-19 |
BLAST |
|
WD40
|
65 |
101 |
2.67e-1 |
SMART |
|
Blast:WD40
|
119 |
154 |
6e-12 |
BLAST |
|
WD40
|
157 |
196 |
1.28e-6 |
SMART |
|
Blast:WD40
|
200 |
245 |
8e-26 |
BLAST |
|
Blast:WD40
|
248 |
279 |
4e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135259
|
| SMART Domains |
Protein: ENSMUSP00000119920
Gene: ENSMUSG00000041319
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
32 |
67 |
9e-13 |
BLAST |
|
WD40
|
70 |
109 |
1.28e-6 |
SMART |
|
Blast:WD40
|
113 |
186 |
4e-20 |
BLAST |
|
Blast:WD40
|
189 |
209 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138190
|
| SMART Domains |
Protein: ENSMUSP00000123075
Gene: ENSMUSG00000041319
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
51 |
6e-20 |
BLAST |
|
WD40
|
65 |
101 |
2.67e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.0623 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.4%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bclaf1 |
T |
A |
10: 20,207,822 (GRCm39) |
|
probably benign |
Het |
| C8a |
T |
C |
4: 104,685,236 (GRCm39) |
I336V |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,692,621 (GRCm39) |
V374D |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 7,999,452 (GRCm39) |
|
probably benign |
Het |
| Cuedc1 |
C |
T |
11: 88,078,853 (GRCm39) |
A327V |
possibly damaging |
Het |
| Cul2 |
C |
A |
18: 3,425,535 (GRCm39) |
Y378* |
probably null |
Het |
| Dnaaf10 |
A |
G |
11: 17,178,183 (GRCm39) |
K226E |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TG |
TGNG |
19: 11,489,147 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,310,438 (GRCm39) |
R893G |
probably damaging |
Het |
| Il10rb |
A |
G |
16: 91,211,581 (GRCm39) |
N140D |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,150,847 (GRCm39) |
M818V |
probably benign |
Het |
| Kyat3 |
T |
C |
3: 142,432,007 (GRCm39) |
I245T |
probably damaging |
Het |
| Lck |
C |
T |
4: 129,451,920 (GRCm39) |
C20Y |
probably damaging |
Het |
| Mcm6 |
T |
G |
1: 128,276,778 (GRCm39) |
S271R |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,394,291 (GRCm39) |
I472V |
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Mrpl11 |
T |
C |
19: 5,013,651 (GRCm39) |
I144T |
possibly damaging |
Het |
| Or2t26 |
G |
A |
11: 49,039,977 (GRCm39) |
V298M |
probably damaging |
Het |
| Or8k25 |
G |
A |
2: 86,244,319 (GRCm39) |
P26S |
possibly damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,020 (GRCm39) |
D270G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,597,608 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
T |
A |
14: 20,574,072 (GRCm39) |
E255D |
probably benign |
Het |
| Psenen |
A |
G |
7: 30,261,802 (GRCm39) |
F38S |
possibly damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 41,913,855 (GRCm39) |
N1358S |
probably benign |
Het |
| Trim3 |
G |
A |
7: 105,267,102 (GRCm39) |
P426S |
probably benign |
Het |
| Ttc28 |
T |
C |
5: 111,424,831 (GRCm39) |
M1552T |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,840,614 (GRCm39) |
D79G |
probably benign |
Het |
| Zcchc14 |
A |
G |
8: 122,333,664 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
T |
C |
11: 50,951,677 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
T |
C |
13: 67,767,626 (GRCm39) |
I868V |
probably benign |
Het |
|
| Other mutations in Bicdl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Bicdl2
|
APN |
17 |
23,887,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03283:Bicdl2
|
APN |
17 |
23,886,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1351:Bicdl2
|
UTSW |
17 |
23,886,519 (GRCm39) |
unclassified |
probably benign |
|
|
R1512:Bicdl2
|
UTSW |
17 |
23,887,083 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1768:Bicdl2
|
UTSW |
17 |
23,884,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2886:Bicdl2
|
UTSW |
17 |
23,885,732 (GRCm39) |
splice site |
probably null |
|
|
R4154:Bicdl2
|
UTSW |
17 |
23,885,066 (GRCm39) |
splice site |
probably null |
|
|
R4440:Bicdl2
|
UTSW |
17 |
23,886,590 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5133:Bicdl2
|
UTSW |
17 |
23,880,795 (GRCm39) |
missense |
unknown |
|
|
R5358:Bicdl2
|
UTSW |
17 |
23,886,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6759:Bicdl2
|
UTSW |
17 |
23,885,718 (GRCm39) |
splice site |
probably null |
|
|
R7855:Bicdl2
|
UTSW |
17 |
23,884,991 (GRCm39) |
nonsense |
probably null |
|
|
R8557:Bicdl2
|
UTSW |
17 |
23,886,536 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8871:Bicdl2
|
UTSW |
17 |
23,885,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Bicdl2
|
UTSW |
17 |
23,887,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9609:Bicdl2
|
UTSW |
17 |
23,884,513 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCTGTGTGAGCCTACCTATTTG -3'
(R):5'- CTGTCCCCTAACTAACTGAGGACCTG -3'
Sequencing Primer
(F):5'- AGCCTACCTATTTGGTCTGGAG -3'
(R):5'- TGTGCAGCAATCCCCATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation