Incidental Mutation 'IGL02893:Bbs1'
| ID |
363302 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bbs1
|
| Ensembl Gene |
ENSMUSG00000006464 |
| Gene Name |
Bardet-Biedl syndrome 1 |
| Synonyms |
D19Ertd609e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.824)
|
| Stock # |
IGL02893
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4936906-4956656 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 4947604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 317
(K317*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053506]
|
| AlphaFold |
Q3V3N7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053506
AA Change: K317*
|
| SMART Domains |
Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: K317*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Pfam:BBS1
|
23 |
276 |
2.7e-104 |
PFAM |
|
low complexity region
|
293 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
466 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,543 (GRCm39) |
V802A |
probably damaging |
Het |
| Acsl6 |
G |
A |
11: 54,236,725 (GRCm39) |
V540M |
probably damaging |
Het |
| Ahctf1 |
A |
C |
1: 179,603,576 (GRCm39) |
Y823* |
probably null |
Het |
| Cand2 |
T |
C |
6: 115,768,921 (GRCm39) |
L577P |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,237,180 (GRCm39) |
D449V |
probably damaging |
Het |
| Col28a1 |
C |
T |
6: 8,103,534 (GRCm39) |
G421S |
probably damaging |
Het |
| Dgkd |
A |
G |
1: 87,842,930 (GRCm39) |
|
probably benign |
Het |
| Entpd1 |
T |
C |
19: 40,715,961 (GRCm39) |
V347A |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,765,021 (GRCm39) |
|
probably benign |
Het |
| Fam20a |
G |
A |
11: 109,612,414 (GRCm39) |
A43V |
probably benign |
Het |
| Fbxo9 |
A |
G |
9: 77,989,377 (GRCm39) |
|
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Gale |
T |
C |
4: 135,694,913 (GRCm39) |
V295A |
probably benign |
Het |
| Gpr139 |
A |
T |
7: 118,744,366 (GRCm39) |
V73D |
probably damaging |
Het |
| Hpca |
A |
T |
4: 129,012,215 (GRCm39) |
M107K |
probably damaging |
Het |
| Igdcc4 |
G |
T |
9: 65,040,353 (GRCm39) |
V1002F |
probably damaging |
Het |
| Irx4 |
T |
A |
13: 73,416,897 (GRCm39) |
L431H |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,980,113 (GRCm39) |
T6A |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,305,161 (GRCm39) |
R263C |
possibly damaging |
Het |
| Meikin |
G |
A |
11: 54,308,584 (GRCm39) |
C394Y |
possibly damaging |
Het |
| Mmp25 |
T |
C |
17: 23,863,025 (GRCm39) |
T129A |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,988 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,457,632 (GRCm39) |
M171K |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,570,466 (GRCm39) |
H509Y |
possibly damaging |
Het |
| Nwd1 |
A |
T |
8: 73,394,129 (GRCm39) |
H464L |
probably damaging |
Het |
| Or5k1 |
A |
G |
16: 58,618,020 (GRCm39) |
L63P |
probably damaging |
Het |
| Paqr5 |
G |
A |
9: 61,876,150 (GRCm39) |
A128V |
probably benign |
Het |
| Pcdhb10 |
G |
A |
18: 37,546,687 (GRCm39) |
V588M |
probably damaging |
Het |
| Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
| Rnf31 |
T |
A |
14: 55,836,566 (GRCm39) |
F800Y |
probably damaging |
Het |
| Sag |
T |
G |
1: 87,762,315 (GRCm39) |
S327A |
probably benign |
Het |
| Sdf4 |
T |
C |
4: 156,080,985 (GRCm39) |
|
probably benign |
Het |
| Slc10a6 |
A |
T |
5: 103,776,739 (GRCm39) |
D120E |
probably benign |
Het |
| Spata31d1d |
T |
A |
13: 59,873,793 (GRCm39) |
K1247N |
possibly damaging |
Het |
| Stam2 |
A |
G |
2: 52,604,914 (GRCm39) |
V207A |
probably damaging |
Het |
| Sytl3 |
T |
C |
17: 7,000,373 (GRCm39) |
L181P |
probably damaging |
Het |
| Tbc1d32 |
T |
C |
10: 55,893,799 (GRCm39) |
E1258G |
probably damaging |
Het |
| Tmem63b |
T |
G |
17: 45,972,826 (GRCm39) |
H656P |
probably damaging |
Het |
| Tmem69 |
T |
A |
4: 116,410,926 (GRCm39) |
M15L |
probably benign |
Het |
| Tmprss7 |
T |
A |
16: 45,489,891 (GRCm39) |
I444F |
possibly damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,614,210 (GRCm39) |
R168L |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,433,251 (GRCm39) |
Y2095C |
possibly damaging |
Het |
| Ube3c |
A |
G |
5: 29,837,761 (GRCm39) |
Y643C |
probably damaging |
Het |
| Ywhaq |
G |
A |
12: 21,446,410 (GRCm39) |
A152V |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 44,886,619 (GRCm39) |
I813F |
probably benign |
Het |
|
| Other mutations in Bbs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Bbs1
|
APN |
19 |
4,943,038 (GRCm39) |
missense |
probably benign |
|
|
IGL01110:Bbs1
|
APN |
19 |
4,942,953 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01116:Bbs1
|
APN |
19 |
4,952,867 (GRCm39) |
splice site |
probably benign |
|
|
IGL01480:Bbs1
|
APN |
19 |
4,944,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Bbs1
|
APN |
19 |
4,952,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03136:Bbs1
|
APN |
19 |
4,941,019 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03342:Bbs1
|
APN |
19 |
4,947,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bookface
|
UTSW |
19 |
4,947,354 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
PIT4131001:Bbs1
|
UTSW |
19 |
4,949,287 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
PIT4378001:Bbs1
|
UTSW |
19 |
4,941,703 (GRCm39) |
missense |
probably benign |
0.05 |
|
PIT4468001:Bbs1
|
UTSW |
19 |
4,956,190 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0023:Bbs1
|
UTSW |
19 |
4,956,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Bbs1
|
UTSW |
19 |
4,956,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Bbs1
|
UTSW |
19 |
4,945,057 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1423:Bbs1
|
UTSW |
19 |
4,944,291 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1760:Bbs1
|
UTSW |
19 |
4,944,350 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1992:Bbs1
|
UTSW |
19 |
4,941,736 (GRCm39) |
missense |
probably benign |
|
|
R2145:Bbs1
|
UTSW |
19 |
4,953,735 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4097:Bbs1
|
UTSW |
19 |
4,947,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5717:Bbs1
|
UTSW |
19 |
4,947,354 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5947:Bbs1
|
UTSW |
19 |
4,943,022 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6005:Bbs1
|
UTSW |
19 |
4,953,823 (GRCm39) |
nonsense |
probably null |
|
|
R6175:Bbs1
|
UTSW |
19 |
4,940,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Bbs1
|
UTSW |
19 |
4,949,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6734:Bbs1
|
UTSW |
19 |
4,953,924 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6772:Bbs1
|
UTSW |
19 |
4,956,618 (GRCm39) |
unclassified |
probably benign |
|
|
R6805:Bbs1
|
UTSW |
19 |
4,950,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Bbs1
|
UTSW |
19 |
4,953,880 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7198:Bbs1
|
UTSW |
19 |
4,945,043 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7276:Bbs1
|
UTSW |
19 |
4,947,738 (GRCm39) |
splice site |
probably null |
|
|
R7685:Bbs1
|
UTSW |
19 |
4,956,182 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7696:Bbs1
|
UTSW |
19 |
4,941,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7933:Bbs1
|
UTSW |
19 |
4,941,678 (GRCm39) |
splice site |
probably benign |
|
|
R8446:Bbs1
|
UTSW |
19 |
4,947,633 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8892:Bbs1
|
UTSW |
19 |
4,942,954 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9181:Bbs1
|
UTSW |
19 |
4,941,070 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9602:Bbs1
|
UTSW |
19 |
4,941,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Y5404:Bbs1
|
UTSW |
19 |
4,950,635 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Y5407:Bbs1
|
UTSW |
19 |
4,950,635 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Posted On |
2015-12-18 |
Incidental Mutation