Incidental Mutation 'R4154:Bicdl2'
| ID |
315060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bicdl2
|
| Ensembl Gene |
ENSMUSG00000043782 |
| Gene Name |
BICD family like cargo adaptor 2 |
| Synonyms |
Ccdc64b |
| MMRRC Submission |
040998-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4154 (G1)
|
| Quality Score |
158 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23879480-23887595 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 23885066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000062967
|
| SMART Domains |
Protein: ENSMUSP00000053808
Gene: ENSMUSG00000043782
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI593442 |
A |
T |
9: 52,589,204 (GRCm39) |
H124Q |
probably benign |
Het |
| Asph |
C |
T |
4: 9,639,250 (GRCm39) |
W38* |
probably null |
Het |
| Chd8 |
T |
C |
14: 52,444,668 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,297,833 (GRCm39) |
N67D |
probably benign |
Het |
| Cptp |
A |
G |
4: 155,951,657 (GRCm39) |
V12A |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,545,272 (GRCm39) |
I145V |
probably benign |
Het |
| Ctsc |
G |
A |
7: 87,948,755 (GRCm39) |
M195I |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Fas |
T |
G |
19: 34,296,228 (GRCm39) |
I180S |
possibly damaging |
Het |
| Fsip2 |
A |
C |
2: 82,817,413 (GRCm39) |
E4382A |
possibly damaging |
Het |
| Galnt5 |
T |
G |
2: 57,888,505 (GRCm39) |
L35R |
probably damaging |
Het |
| Gfpt2 |
G |
A |
11: 49,726,605 (GRCm39) |
|
probably null |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,636,872 (GRCm39) |
H110L |
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,790,167 (GRCm39) |
V211A |
probably benign |
Het |
| Gsc2 |
TGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAG |
16: 17,732,666 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
T |
12: 115,722,017 (GRCm39) |
M7K |
probably benign |
Het |
| Igkv12-44 |
C |
T |
6: 69,791,639 (GRCm39) |
C108Y |
possibly damaging |
Het |
| Lum |
T |
C |
10: 97,404,815 (GRCm39) |
S237P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,365,606 (GRCm39) |
K3052E |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,707,475 (GRCm39) |
E1588G |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,126,902 (GRCm39) |
T172A |
probably benign |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Pard3 |
G |
T |
8: 128,200,877 (GRCm39) |
R978L |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,086,639 (GRCm39) |
|
probably null |
Het |
| Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,444,336 (GRCm39) |
M516I |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,043,845 (GRCm39) |
F1336L |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sipa1l1 |
G |
C |
12: 82,471,988 (GRCm39) |
G1323R |
possibly damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,626,107 (GRCm39) |
K1153R |
probably benign |
Het |
| Strn3 |
C |
T |
12: 51,673,914 (GRCm39) |
V566M |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,069,068 (GRCm39) |
F2906S |
possibly damaging |
Het |
| Tbc1d8 |
C |
T |
1: 39,425,216 (GRCm39) |
V545M |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,595 (GRCm39) |
S157P |
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,455,077 (GRCm39) |
V258M |
probably benign |
Het |
| Vat1l |
G |
C |
8: 114,932,543 (GRCm39) |
G30R |
possibly damaging |
Het |
| Vegfb |
T |
C |
19: 6,963,446 (GRCm39) |
Y106C |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
| Zc3h15 |
T |
C |
2: 83,488,913 (GRCm39) |
V161A |
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 |
|
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 |
|
|
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'- TCTACAGGCAGAGGTGAGTAGC -3'
(R):5'- CAGACTTTTCTGTCCTGAGTTCTGG -3'
Sequencing Primer
(F):5'- AGGAGCTCCCTGAGACTG -3'
(R):5'- CCTGAGTTCTGGCCTTGGC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation