Incidental Mutation 'IGL01902:Bicdl1'
| ID |
179567 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bicdl1
|
| Ensembl Gene |
ENSMUSG00000041609 |
| Gene Name |
BICD family like cargo adaptor 1 |
| Synonyms |
2210403N09Rik, BICDR-1, Ccdc64 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.372)
|
| Stock # |
IGL01902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115786234-115869680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115789933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 284
(L284P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031492]
[ENSMUST00000055408]
[ENSMUST00000118576]
[ENSMUST00000121746]
[ENSMUST00000141976]
[ENSMUST00000148276]
|
| AlphaFold |
A0JNT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031492
|
| SMART Domains |
Protein: ENSMUSP00000031492
Gene: ENSMUSG00000029518
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
9 |
171 |
5.07e-89 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055408
AA Change: L505P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: L505P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
68 |
N/A |
INTRINSIC |
|
Pfam:HAP1_N
|
97 |
162 |
2e-11 |
PFAM |
|
low complexity region
|
305 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
410 |
N/A |
INTRINSIC |
|
coiled coil region
|
467 |
529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118576
AA Change: L10P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112842
Gene: ENSMUSG00000041609
AA Change: L10P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121746
AA Change: L10P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112949
Gene: ENSMUSG00000041609
AA Change: L10P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141976
AA Change: L10P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148276
AA Change: L284P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
AA Change: L284P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
|
coiled coil region
|
178 |
284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201869
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,147,267 (GRCm39) |
S228P |
probably damaging |
Het |
| Adamtsl2 |
A |
T |
2: 26,977,264 (GRCm39) |
I242F |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,309,181 (GRCm39) |
I138T |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,731 (GRCm39) |
L2704S |
probably damaging |
Het |
| Col7a1 |
C |
A |
9: 108,806,895 (GRCm39) |
P2442T |
unknown |
Het |
| Cpne6 |
A |
T |
14: 55,750,207 (GRCm39) |
T113S |
possibly damaging |
Het |
| Crnkl1 |
T |
C |
2: 145,766,632 (GRCm39) |
|
probably null |
Het |
| Cyp2c67 |
T |
A |
19: 39,637,470 (GRCm39) |
D2V |
probably damaging |
Het |
| Frzb |
T |
A |
2: 80,243,711 (GRCm39) |
S323C |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Ins2 |
C |
T |
7: 142,233,179 (GRCm39) |
C31Y |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,948,179 (GRCm39) |
N234Y |
probably benign |
Het |
| Mtf1 |
T |
C |
4: 124,698,720 (GRCm39) |
F73L |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,395,919 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
A |
G |
12: 82,025,868 (GRCm39) |
T1538A |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,940,732 (GRCm39) |
V47D |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,096,002 (GRCm39) |
E502G |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,156,934 (GRCm39) |
V1886M |
probably damaging |
Het |
| Rapgef3 |
T |
A |
15: 97,648,181 (GRCm39) |
H676L |
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,829,422 (GRCm39) |
N607Y |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,237,132 (GRCm39) |
T233I |
possibly damaging |
Het |
| Snx13 |
A |
T |
12: 35,183,306 (GRCm39) |
|
probably null |
Het |
| Suz12 |
T |
A |
11: 79,916,776 (GRCm39) |
C510S |
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,795,756 (GRCm39) |
M242K |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,103,548 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Bicdl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Bicdl1
|
APN |
5 |
115,808,215 (GRCm39) |
nonsense |
probably null |
|
|
IGL02416:Bicdl1
|
APN |
5 |
115,801,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02417:Bicdl1
|
APN |
5 |
115,811,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Bicdl1
|
APN |
5 |
115,801,881 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03275:Bicdl1
|
APN |
5 |
115,869,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bargain
|
UTSW |
5 |
115,808,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6807_Bicdl1_588
|
UTSW |
5 |
115,810,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0837:Bicdl1
|
UTSW |
5 |
115,869,351 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0924:Bicdl1
|
UTSW |
5 |
115,799,587 (GRCm39) |
splice site |
probably benign |
|
|
R1581:Bicdl1
|
UTSW |
5 |
115,789,326 (GRCm39) |
unclassified |
probably benign |
|
|
R1589:Bicdl1
|
UTSW |
5 |
115,789,325 (GRCm39) |
unclassified |
probably benign |
|
|
R1669:Bicdl1
|
UTSW |
5 |
115,794,075 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2076:Bicdl1
|
UTSW |
5 |
115,793,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2089:Bicdl1
|
UTSW |
5 |
115,862,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Bicdl1
|
UTSW |
5 |
115,862,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Bicdl1
|
UTSW |
5 |
115,862,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Bicdl1
|
UTSW |
5 |
115,799,537 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6185:Bicdl1
|
UTSW |
5 |
115,808,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6807:Bicdl1
|
UTSW |
5 |
115,810,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7107:Bicdl1
|
UTSW |
5 |
115,808,229 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7157:Bicdl1
|
UTSW |
5 |
115,789,916 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7205:Bicdl1
|
UTSW |
5 |
115,808,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Bicdl1
|
UTSW |
5 |
115,801,845 (GRCm39) |
nonsense |
probably null |
|
|
R7781:Bicdl1
|
UTSW |
5 |
115,799,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8236:Bicdl1
|
UTSW |
5 |
115,787,618 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8816:Bicdl1
|
UTSW |
5 |
115,862,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Bicdl1
|
UTSW |
5 |
115,862,769 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9527:Bicdl1
|
UTSW |
5 |
115,811,188 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Posted On |
2014-05-07 |
Incidental Mutation