Incidental Mutation 'IGL01083:Bicdl2'
| ID |
53029 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bicdl2
|
| Ensembl Gene |
ENSMUSG00000043782 |
| Gene Name |
BICD family like cargo adaptor 2 |
| Synonyms |
Ccdc64b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL01083
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
23879480-23887595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23887105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 464
(Q464R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053808
(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 |
probably damaging
Transcript: ENSMUST00000062967
AA Change: Q464R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053808
Gene: ENSMUSG00000043782
AA Change: Q464R
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,659,191 (GRCm39) |
D533G |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,283,298 (GRCm39) |
V136A |
possibly damaging |
Het |
| Aggf1 |
A |
G |
13: 95,492,917 (GRCm39) |
V564A |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,186 (GRCm39) |
T570A |
probably benign |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,458,877 (GRCm39) |
R792L |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,802,755 (GRCm39) |
I844F |
possibly damaging |
Het |
| Dock4 |
G |
A |
12: 40,838,380 (GRCm39) |
|
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,096,769 (GRCm39) |
T166A |
probably benign |
Het |
| Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,291,680 (GRCm39) |
Y590C |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,927,871 (GRCm39) |
E441G |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,031,678 (GRCm39) |
S107G |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,166,729 (GRCm39) |
L45P |
possibly damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,189,525 (GRCm39) |
Y299C |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,866,974 (GRCm39) |
|
probably benign |
Het |
| Obscn |
G |
A |
11: 58,926,919 (GRCm39) |
T5532M |
probably damaging |
Het |
| Or5ac25 |
G |
A |
16: 59,182,198 (GRCm39) |
P128S |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,991,841 (GRCm39) |
S165P |
probably benign |
Het |
| Pramel17 |
T |
A |
4: 101,692,729 (GRCm39) |
M424L |
probably benign |
Het |
| Prokr1 |
A |
T |
6: 87,565,766 (GRCm39) |
H26Q |
probably benign |
Het |
| Prrc2a |
G |
T |
17: 35,375,177 (GRCm39) |
R1158S |
possibly damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,549 (GRCm39) |
W680R |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,582,191 (GRCm39) |
|
probably benign |
Het |
| Sars1 |
A |
G |
3: 108,334,174 (GRCm39) |
L528P |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,085,473 (GRCm39) |
L89F |
possibly damaging |
Het |
| Slc38a6 |
T |
C |
12: 73,335,267 (GRCm39) |
V70A |
possibly damaging |
Het |
| Son |
G |
A |
16: 91,454,279 (GRCm39) |
E1009K |
probably damaging |
Het |
| Thoc3 |
A |
C |
13: 54,615,633 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
A |
11: 105,112,050 (GRCm39) |
C88S |
probably benign |
Het |
| Tmem182 |
T |
A |
1: 40,844,977 (GRCm39) |
F21Y |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,033,437 (GRCm39) |
V557M |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,493,463 (GRCm39) |
T527A |
probably benign |
Het |
|
| Other mutations in Bicdl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03283:Bicdl2
|
APN |
17 |
23,886,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1013:Bicdl2
|
UTSW |
17 |
23,884,377 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
|
|
| Posted On |
2013-06-21 |
Incidental Mutation