Incidental Mutation 'IGL03275:Bicdl1'
ID |
415404 |
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 # |
IGL03275
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
115786234-115869680 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115869219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 134
(Y134H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055408]
[ENSMUST00000141950]
|
AlphaFold |
A0JNT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055408
AA Change: Y134H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053547 Gene: ENSMUSG00000041609 AA Change: Y134H
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: ENSMUST00000141950
AA Change: Y70H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119015 Gene: ENSMUSG00000041609 AA Change: Y70H
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 |
noncoding transcript
Transcript: ENSMUST00000148840
|
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 |
1700030K09Rik |
T |
A |
8: 73,198,968 (GRCm39) |
L125H |
probably damaging |
Het |
2210408I21Rik |
A |
T |
13: 77,446,674 (GRCm39) |
T816S |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,415,033 (GRCm39) |
I1438N |
probably damaging |
Het |
Btnl1 |
A |
T |
17: 34,604,486 (GRCm39) |
K422N |
probably damaging |
Het |
Ccdc158 |
T |
A |
5: 92,777,491 (GRCm39) |
I941F |
probably benign |
Het |
Crnn |
A |
G |
3: 93,056,725 (GRCm39) |
K504E |
possibly damaging |
Het |
Csmd1 |
T |
A |
8: 16,207,106 (GRCm39) |
I1308L |
probably benign |
Het |
Cwf19l1 |
T |
C |
19: 44,111,696 (GRCm39) |
M246V |
probably benign |
Het |
Desi1 |
T |
A |
15: 81,887,963 (GRCm39) |
I36F |
probably damaging |
Het |
Foxf2 |
A |
G |
13: 31,810,514 (GRCm39) |
N151S |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,305,376 (GRCm39) |
V35A |
possibly damaging |
Het |
Ftdc1 |
T |
C |
16: 58,436,119 (GRCm39) |
Y68C |
probably damaging |
Het |
Gabrg3 |
T |
C |
7: 56,423,095 (GRCm39) |
Y201C |
probably damaging |
Het |
Grb10 |
T |
A |
11: 11,883,591 (GRCm39) |
T500S |
possibly damaging |
Het |
Hsdl2 |
A |
G |
4: 59,617,747 (GRCm39) |
*371W |
probably null |
Het |
Irf7 |
C |
A |
7: 140,845,059 (GRCm39) |
R49L |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,060,375 (GRCm39) |
|
probably benign |
Het |
Jam3 |
T |
C |
9: 27,012,545 (GRCm39) |
T201A |
probably damaging |
Het |
Msantd5f6 |
T |
A |
4: 73,321,653 (GRCm39) |
R127S |
possibly damaging |
Het |
Mst1 |
T |
C |
9: 107,961,587 (GRCm39) |
S606P |
possibly damaging |
Het |
Or5p59 |
T |
A |
7: 107,702,815 (GRCm39) |
C100S |
probably damaging |
Het |
Otog |
A |
G |
7: 45,955,654 (GRCm39) |
E2800G |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,427,004 (GRCm39) |
P292S |
probably damaging |
Het |
Rab10 |
A |
T |
12: 3,306,959 (GRCm39) |
Y79N |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,787,125 (GRCm39) |
|
probably null |
Het |
Slc2a3 |
C |
T |
6: 122,713,701 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
T |
C |
19: 4,782,689 (GRCm39) |
Y542H |
possibly damaging |
Het |
Tas2r110 |
T |
C |
6: 132,845,061 (GRCm39) |
F31L |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,143 (GRCm39) |
C222S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,547,688 (GRCm39) |
S32161P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,775,451 (GRCm39) |
S1864P |
probably damaging |
Het |
Vmn1r228 |
A |
G |
17: 20,997,104 (GRCm39) |
I138T |
probably damaging |
Het |
Vmn2r10 |
T |
A |
5: 109,151,243 (GRCm39) |
T124S |
probably benign |
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 |
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 |
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 |
2016-08-02 |