Incidental Mutation 'IGL02417:Bicdl1'
| ID |
292477 |
| 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 # |
IGL02417
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115786234-115869680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115811217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 231
(H231Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055408]
[ENSMUST00000141950]
[ENSMUST00000148276]
|
| AlphaFold |
A0JNT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055408
AA Change: H231Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609
AA Change: H231Q
| 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
AA Change: H167Q
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119015
Gene: ENSMUSG00000041609
AA Change: H167Q
| 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 benign
Transcript: ENSMUST00000148276
|
| SMART Domains |
Protein: ENSMUSP00000119664
Gene: ENSMUSG00000041609
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
T |
A |
12: 52,565,136 (GRCm39) |
N702K |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,390,995 (GRCm39) |
T1860A |
probably benign |
Het |
| C2cd5 |
A |
C |
6: 142,987,218 (GRCm39) |
D470E |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,451,751 (GRCm39) |
F688L |
probably damaging |
Het |
| Cul3 |
T |
C |
1: 80,300,619 (GRCm39) |
Y74C |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,203,429 (GRCm39) |
E1042G |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,020,915 (GRCm39) |
L1966P |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,386,682 (GRCm39) |
I204N |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,313,559 (GRCm39) |
|
probably benign |
Het |
| Fasn |
A |
G |
11: 120,711,166 (GRCm39) |
V228A |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,737,846 (GRCm39) |
W148R |
probably benign |
Het |
| Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
| Gpr89 |
A |
T |
3: 96,804,741 (GRCm39) |
Y38* |
probably null |
Het |
| H2-M1 |
G |
A |
17: 36,983,026 (GRCm39) |
H22Y |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,941,630 (GRCm39) |
S574T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,578,018 (GRCm39) |
V753I |
probably benign |
Het |
| Lcn9 |
T |
C |
2: 25,713,692 (GRCm39) |
F73L |
possibly damaging |
Het |
| Lnpep |
T |
C |
17: 17,765,165 (GRCm39) |
T762A |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,291,649 (GRCm39) |
C3510Y |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,456,849 (GRCm39) |
|
probably benign |
Het |
| Or14c39 |
A |
G |
7: 86,344,027 (GRCm39) |
Y121C |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,356 (GRCm39) |
I8F |
probably benign |
Het |
| Or5b3 |
A |
G |
19: 13,388,259 (GRCm39) |
T109A |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,736,509 (GRCm39) |
V176E |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,320,444 (GRCm39) |
S1480P |
probably benign |
Het |
| Ppfia3 |
T |
C |
7: 44,991,141 (GRCm39) |
R1027G |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,054,665 (GRCm39) |
Y628H |
possibly damaging |
Het |
| Sh3bp1 |
G |
A |
15: 78,785,699 (GRCm39) |
R4Q |
probably damaging |
Het |
| Skint9 |
A |
G |
4: 112,271,335 (GRCm39) |
|
probably benign |
Het |
| Slc25a51 |
A |
G |
4: 45,400,074 (GRCm39) |
S39P |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,612,386 (GRCm39) |
R1558C |
probably damaging |
Het |
| Spag9 |
A |
G |
11: 94,007,567 (GRCm39) |
S1224G |
probably benign |
Het |
| Spdl1 |
G |
T |
11: 34,704,181 (GRCm39) |
Q551K |
probably benign |
Het |
| Sugt1 |
A |
G |
14: 79,847,698 (GRCm39) |
I183V |
probably benign |
Het |
| Th |
G |
A |
7: 142,453,643 (GRCm39) |
S19L |
probably damaging |
Het |
| Tmprss11g |
A |
G |
5: 86,638,750 (GRCm39) |
V246A |
probably benign |
Het |
| Tnfaip8l2 |
T |
C |
3: 95,047,714 (GRCm39) |
T50A |
probably benign |
Het |
| Tox3 |
G |
T |
8: 90,984,759 (GRCm39) |
T140K |
possibly damaging |
Het |
| Unc50 |
T |
A |
1: 37,476,531 (GRCm39) |
Y205* |
probably null |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,881 (GRCm39) |
K376N |
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 |
|
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