Incidental Mutation 'IGL01434:Bicdl1'
| ID |
84285 |
| 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 # |
IGL01434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115786234-115869680 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 115808215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 37
(Q37*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055408]
[ENSMUST00000141950]
[ENSMUST00000148276]
|
| AlphaFold |
A0JNT9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055408
AA Change: Q306*
|
| SMART Domains |
Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: Q306*
| 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 benign
Transcript: ENSMUST00000141950
|
| SMART Domains |
Protein: ENSMUSP00000119015
Gene: ENSMUSG00000041609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAP1_N
|
35 |
99 |
4.5e-11 |
PFAM |
|
coiled coil region
|
192 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148276
AA Change: Q37*
|
| SMART Domains |
Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
AA Change: Q37*
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,380,297 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,051,472 (GRCm39) |
N864S |
probably damaging |
Het |
| Anapc7 |
A |
G |
5: 122,576,279 (GRCm39) |
D302G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,419,107 (GRCm39) |
C782S |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,561,420 (GRCm39) |
D1027G |
possibly damaging |
Het |
| Cbl |
T |
C |
9: 44,075,503 (GRCm39) |
I364V |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,459 (GRCm39) |
S41P |
unknown |
Het |
| Cenpf |
G |
A |
1: 189,390,065 (GRCm39) |
Q1256* |
probably null |
Het |
| Copa |
T |
A |
1: 171,947,128 (GRCm39) |
I1093N |
probably benign |
Het |
| Cped1 |
C |
T |
6: 22,017,004 (GRCm39) |
L118F |
probably damaging |
Het |
| Cplane2 |
T |
C |
4: 140,945,964 (GRCm39) |
V169A |
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,006,777 (GRCm39) |
V37E |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,731 (GRCm39) |
H626R |
probably benign |
Het |
| Ears2 |
G |
A |
7: 121,662,311 (GRCm39) |
|
probably benign |
Het |
| Eif3c |
A |
G |
7: 126,155,582 (GRCm39) |
I562T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,769,090 (GRCm39) |
Y685C |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,320,700 (GRCm39) |
V108A |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,982 (GRCm39) |
K321E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,120,285 (GRCm39) |
G306R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,306 (GRCm39) |
Y138C |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,049,865 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 50,350,956 (GRCm39) |
K534N |
probably benign |
Het |
| Nob1 |
A |
G |
8: 108,151,360 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,531 (GRCm39) |
A238T |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,914,385 (GRCm39) |
P60L |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,531,451 (GRCm39) |
E1358G |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,029,566 (GRCm39) |
T997A |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,901,247 (GRCm39) |
N393K |
possibly damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,102,582 (GRCm39) |
S206P |
probably damaging |
Het |
| Stard10 |
G |
A |
7: 100,971,187 (GRCm39) |
V125M |
probably benign |
Het |
| Tff2 |
G |
T |
17: 31,362,240 (GRCm39) |
|
probably null |
Het |
| Tha1 |
T |
C |
11: 117,759,425 (GRCm39) |
T355A |
probably benign |
Het |
| Tmem120a |
G |
T |
5: 135,765,864 (GRCm39) |
F127L |
possibly damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,909 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,515,302 (GRCm39) |
D1028G |
probably benign |
Het |
|
| Other mutations in Bicdl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01902:Bicdl1
|
APN |
5 |
115,789,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-11 |
Incidental Mutation