Incidental Mutation 'IGL02416:Bicdl1'
| ID |
292452 |
| 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 # |
IGL02416
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115786234-115869680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 115801944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 38
(L38R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055408]
[ENSMUST00000148276]
|
| AlphaFold |
A0JNT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055408
AA Change: L307R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: L307R
| 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 |
noncoding transcript
Transcript: ENSMUST00000117847
|
| SMART Domains |
Protein: ENSMUSP00000114133
Gene: ENSMUSG00000041609
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
18 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148276
AA Change: L38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
AA Change: L38R
| 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: ENSMUST00000148627
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
C |
14: 68,810,282 (GRCm39) |
N227S |
probably null |
Het |
| Adgrf5 |
T |
G |
17: 43,755,871 (GRCm39) |
|
probably null |
Het |
| Arid2 |
G |
A |
15: 96,247,936 (GRCm39) |
G116D |
possibly damaging |
Het |
| Arsa |
T |
A |
15: 89,358,991 (GRCm39) |
H225L |
probably damaging |
Het |
| Atf6 |
T |
A |
1: 170,574,726 (GRCm39) |
K571* |
probably null |
Het |
| Cct4 |
T |
C |
11: 22,952,868 (GRCm39) |
S515P |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,709,318 (GRCm39) |
D1388A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,790,777 (GRCm39) |
T432A |
probably benign |
Het |
| Des |
T |
A |
1: 75,339,372 (GRCm39) |
|
probably null |
Het |
| Dock11 |
T |
A |
X: 35,283,739 (GRCm39) |
V1119E |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,169,896 (GRCm39) |
N1763S |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,132 (GRCm39) |
S458G |
possibly damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,352,535 (GRCm39) |
M897L |
probably benign |
Het |
| Foxj1 |
T |
C |
11: 116,222,829 (GRCm39) |
S325G |
probably benign |
Het |
| Gm5407 |
A |
G |
16: 49,117,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6576 |
T |
C |
15: 27,026,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hells |
G |
A |
19: 38,953,071 (GRCm39) |
S743N |
probably benign |
Het |
| Ighv2-9-1 |
A |
T |
12: 113,733,731 (GRCm39) |
L30Q |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,375,786 (GRCm39) |
L1363H |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,977 (GRCm39) |
D3025G |
probably damaging |
Het |
| Mef2d |
C |
T |
3: 88,063,809 (GRCm39) |
R79C |
probably damaging |
Het |
| Mical1 |
G |
T |
10: 41,360,806 (GRCm39) |
|
probably null |
Het |
| Micu2 |
A |
T |
14: 58,161,422 (GRCm39) |
V300E |
probably damaging |
Het |
| Mmgt2 |
T |
C |
11: 62,555,703 (GRCm39) |
L17P |
probably damaging |
Het |
| Or4p21 |
A |
G |
2: 88,277,174 (GRCm39) |
I36T |
probably benign |
Het |
| Or7c19 |
T |
A |
8: 85,957,662 (GRCm39) |
C179* |
probably null |
Het |
| Or7e177 |
A |
T |
9: 20,211,541 (GRCm39) |
E15V |
probably benign |
Het |
| Pigb |
A |
G |
9: 72,924,714 (GRCm39) |
S482P |
probably benign |
Het |
| Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Pou1f1 |
T |
C |
16: 65,328,842 (GRCm39) |
I187T |
probably damaging |
Het |
| Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,451,962 (GRCm39) |
I954T |
probably benign |
Het |
| Scube3 |
T |
G |
17: 28,383,110 (GRCm39) |
C429W |
probably damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,852,058 (GRCm39) |
|
noncoding transcript |
Het |
| Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,935,629 (GRCm39) |
R1806S |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,288,438 (GRCm39) |
L860Q |
probably damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,605 (GRCm39) |
R219G |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,753,826 (GRCm39) |
S649G |
probably damaging |
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 |
|
|
IGL01902:Bicdl1
|
APN |
5 |
115,789,933 (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 |
2015-04-16 |
Incidental Mutation