Incidental Mutation 'R6222:Bicd1'
| ID |
504076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bicd1
|
| Ensembl Gene |
ENSMUSG00000003452 |
| Gene Name |
BICD cargo adaptor 1 |
| Synonyms |
B830009D06Rik |
| MMRRC Submission |
044353-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
149310384-149464827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 149414463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 392
(D392V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003544]
[ENSMUST00000086829]
[ENSMUST00000111513]
[ENSMUST00000172926]
[ENSMUST00000173408]
|
| AlphaFold |
Q8BR07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003544
AA Change: D392V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003544
Gene: ENSMUSG00000003452
AA Change: D392V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
32 |
N/A |
INTRINSIC |
|
Pfam:BicD
|
74 |
799 |
N/A |
PFAM |
|
low complexity region
|
807 |
820 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086829
AA Change: D392V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084039
Gene: ENSMUSG00000003452
AA Change: D392V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
32 |
N/A |
INTRINSIC |
|
Pfam:BicD
|
74 |
799 |
N/A |
PFAM |
|
low complexity region
|
807 |
820 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111513
AA Change: D392V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107138
Gene: ENSMUSG00000003452
AA Change: D392V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
32 |
N/A |
INTRINSIC |
|
Pfam:BicD
|
74 |
799 |
N/A |
PFAM |
|
low complexity region
|
807 |
822 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172926
|
| SMART Domains |
Protein: ENSMUSP00000133986
Gene: ENSMUSG00000003452
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BicD
|
1 |
98 |
1.2e-69 |
PFAM |
|
low complexity region
|
103 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173408
AA Change: D392V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133727
Gene: ENSMUSG00000003452
AA Change: D392V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
32 |
N/A |
INTRINSIC |
|
Pfam:BicD
|
74 |
799 |
N/A |
PFAM |
|
low complexity region
|
807 |
820 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174886
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
C |
14: 35,531,923 (GRCm39) |
*217W |
probably null |
Het |
| Abcc3 |
A |
G |
11: 94,259,431 (GRCm39) |
F337L |
probably benign |
Het |
| Abcc4 |
T |
A |
14: 118,767,368 (GRCm39) |
H903L |
probably damaging |
Het |
| Akap7 |
T |
A |
10: 25,159,844 (GRCm39) |
K119* |
probably null |
Het |
| Als2 |
T |
C |
1: 59,219,284 (GRCm39) |
D1222G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,863,084 (GRCm39) |
Y296C |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,377,922 (GRCm39) |
|
probably null |
Het |
| Arl10 |
T |
C |
13: 54,726,644 (GRCm39) |
F141L |
probably damaging |
Het |
| B130006D01Rik |
T |
C |
11: 95,616,988 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,479,147 (GRCm39) |
S197T |
possibly damaging |
Het |
| Bmi1 |
T |
A |
2: 18,688,513 (GRCm39) |
M168K |
possibly damaging |
Het |
| C7 |
A |
T |
15: 5,041,423 (GRCm39) |
D494E |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,032,360 (GRCm39) |
N1221I |
probably benign |
Het |
| Cacng7 |
A |
G |
7: 3,385,128 (GRCm39) |
T10A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdpf1 |
T |
C |
15: 85,691,643 (GRCm39) |
R108G |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,479,472 (GRCm39) |
K196N |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,649 (GRCm39) |
I112T |
possibly damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,569,353 (GRCm39) |
S916G |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,454,569 (GRCm39) |
Y627* |
probably null |
Het |
| Fam204a |
A |
G |
19: 60,188,400 (GRCm39) |
|
probably null |
Het |
| Galnt1 |
T |
A |
18: 24,397,591 (GRCm39) |
|
probably null |
Het |
| Gbe1 |
T |
C |
16: 70,325,900 (GRCm39) |
|
probably null |
Het |
| Gm6871 |
C |
T |
7: 41,196,006 (GRCm39) |
D244N |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,347,880 (GRCm39) |
T189A |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,226,336 (GRCm39) |
D2446N |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,121,966 (GRCm39) |
K194R |
possibly damaging |
Het |
| Ino80d |
G |
A |
1: 63,097,684 (GRCm39) |
H737Y |
probably damaging |
Het |
| Izumo4 |
C |
T |
10: 80,538,885 (GRCm39) |
R83W |
probably damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,782,522 (GRCm39) |
V219M |
probably damaging |
Het |
| Kiz |
A |
T |
2: 146,732,981 (GRCm39) |
S386C |
probably damaging |
Het |
| Ldlrap1 |
C |
T |
4: 134,484,671 (GRCm39) |
E108K |
probably damaging |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,327,047 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or4c100 |
T |
C |
2: 88,329,614 (GRCm39) |
Y62H |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,652 (GRCm39) |
K1828E |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,460,097 (GRCm39) |
F194L |
probably benign |
Het |
| Prss1l |
A |
T |
6: 41,374,100 (GRCm39) |
Y234F |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,404,357 (GRCm39) |
Q77L |
probably benign |
Het |
| Ruvbl2 |
G |
T |
7: 45,074,149 (GRCm39) |
D248E |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,798,070 (GRCm39) |
C20S |
probably benign |
Het |
| Sh2d4b |
A |
C |
14: 40,542,694 (GRCm39) |
S361A |
probably damaging |
Het |
| Snx2 |
T |
A |
18: 53,332,896 (GRCm39) |
L190* |
probably null |
Het |
| Sorcs3 |
A |
T |
19: 48,748,296 (GRCm39) |
Y755F |
possibly damaging |
Het |
| Styxl2 |
G |
T |
1: 165,926,214 (GRCm39) |
Q1133K |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,503,613 (GRCm39) |
Q930R |
probably damaging |
Het |
| Tll1 |
C |
A |
8: 64,551,568 (GRCm39) |
G271V |
probably benign |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,351,192 (GRCm39) |
V367A |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,221,866 (GRCm39) |
|
probably null |
Het |
| Virma |
C |
T |
4: 11,527,820 (GRCm39) |
A1187V |
probably damaging |
Het |
| Wdr53 |
T |
C |
16: 32,075,482 (GRCm39) |
V229A |
probably benign |
Het |
| Zcchc10 |
T |
C |
11: 53,223,289 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Bicd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Bicd1
|
APN |
6 |
149,451,888 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02489:Bicd1
|
APN |
6 |
149,414,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02626:Bicd1
|
APN |
6 |
149,311,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02966:Bicd1
|
APN |
6 |
149,385,494 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03256:Bicd1
|
APN |
6 |
149,415,083 (GRCm39) |
missense |
probably benign |
|
|
R0123:Bicd1
|
UTSW |
6 |
149,414,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0131:Bicd1
|
UTSW |
6 |
149,414,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0134:Bicd1
|
UTSW |
6 |
149,414,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0225:Bicd1
|
UTSW |
6 |
149,414,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0267:Bicd1
|
UTSW |
6 |
149,418,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Bicd1
|
UTSW |
6 |
149,413,389 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0560:Bicd1
|
UTSW |
6 |
149,413,460 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0729:Bicd1
|
UTSW |
6 |
149,414,412 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0784:Bicd1
|
UTSW |
6 |
149,414,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1994:Bicd1
|
UTSW |
6 |
149,415,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2221:Bicd1
|
UTSW |
6 |
149,418,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2762:Bicd1
|
UTSW |
6 |
149,421,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3428:Bicd1
|
UTSW |
6 |
149,414,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3805:Bicd1
|
UTSW |
6 |
149,420,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Bicd1
|
UTSW |
6 |
149,420,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3807:Bicd1
|
UTSW |
6 |
149,420,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4694:Bicd1
|
UTSW |
6 |
149,311,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Bicd1
|
UTSW |
6 |
149,420,752 (GRCm39) |
intron |
probably benign |
|
|
R4835:Bicd1
|
UTSW |
6 |
149,385,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5157:Bicd1
|
UTSW |
6 |
149,421,912 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5527:Bicd1
|
UTSW |
6 |
149,396,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Bicd1
|
UTSW |
6 |
149,414,954 (GRCm39) |
nonsense |
probably null |
|
|
R5643:Bicd1
|
UTSW |
6 |
149,421,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5644:Bicd1
|
UTSW |
6 |
149,421,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5788:Bicd1
|
UTSW |
6 |
149,385,498 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5898:Bicd1
|
UTSW |
6 |
149,415,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6227:Bicd1
|
UTSW |
6 |
149,414,674 (GRCm39) |
nonsense |
probably null |
|
|
R6522:Bicd1
|
UTSW |
6 |
149,385,503 (GRCm39) |
missense |
probably benign |
|
|
R6781:Bicd1
|
UTSW |
6 |
149,414,664 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6812:Bicd1
|
UTSW |
6 |
149,311,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7010:Bicd1
|
UTSW |
6 |
149,396,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Bicd1
|
UTSW |
6 |
149,414,403 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7265:Bicd1
|
UTSW |
6 |
149,415,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Bicd1
|
UTSW |
6 |
149,385,591 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7526:Bicd1
|
UTSW |
6 |
149,415,224 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7545:Bicd1
|
UTSW |
6 |
149,414,990 (GRCm39) |
missense |
probably benign |
|
|
R7581:Bicd1
|
UTSW |
6 |
149,420,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7589:Bicd1
|
UTSW |
6 |
149,415,165 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7639:Bicd1
|
UTSW |
6 |
149,414,502 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7715:Bicd1
|
UTSW |
6 |
149,414,471 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8188:Bicd1
|
UTSW |
6 |
149,451,854 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8271:Bicd1
|
UTSW |
6 |
149,414,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8338:Bicd1
|
UTSW |
6 |
149,414,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8375:Bicd1
|
UTSW |
6 |
149,421,989 (GRCm39) |
missense |
probably benign |
|
|
R8696:Bicd1
|
UTSW |
6 |
149,415,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Bicd1
|
UTSW |
6 |
149,420,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9116:Bicd1
|
UTSW |
6 |
149,385,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9505:Bicd1
|
UTSW |
6 |
149,385,522 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9513:Bicd1
|
UTSW |
6 |
149,414,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGATTCAGACATTGTCTTCTGTC -3'
(R):5'- CATGTGGGCCATCTTCTCAC -3'
Sequencing Primer
(F):5'- CAGACATTGTCTTCTGTCATTACAGG -3'
(R):5'- AGATGTCTTCTCAAGGTTTGTCAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation