Incidental Mutation 'IGL01110:Bbs1'
ID |
53263 |
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 # |
IGL01110
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
4936906-4956656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4942953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 479
(S479L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053506]
|
AlphaFold |
Q3V3N7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053506
AA Change: S479L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000055321 Gene: ENSMUSG00000006464 AA Change: S479L
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Capn6 |
G |
T |
X: 142,590,246 (GRCm39) |
P385H |
probably damaging |
Het |
Cavin1 |
C |
A |
11: 100,861,300 (GRCm39) |
|
probably benign |
Het |
Cdh9 |
A |
G |
15: 16,856,012 (GRCm39) |
D684G |
possibly damaging |
Het |
Dlgap5 |
A |
G |
14: 47,631,783 (GRCm39) |
|
probably benign |
Het |
Doc2g |
A |
G |
19: 4,056,577 (GRCm39) |
E321G |
probably damaging |
Het |
Eef1akmt1 |
A |
C |
14: 57,787,247 (GRCm39) |
F210V |
probably damaging |
Het |
Eya1 |
A |
G |
1: 14,353,354 (GRCm39) |
S65P |
probably damaging |
Het |
Gpx8 |
C |
T |
13: 113,182,218 (GRCm39) |
V72I |
probably benign |
Het |
Gria1 |
A |
G |
11: 57,180,207 (GRCm39) |
E650G |
probably damaging |
Het |
Hic1 |
A |
T |
11: 75,056,345 (GRCm39) |
L848Q |
possibly damaging |
Het |
Mmp1b |
C |
T |
9: 7,384,921 (GRCm39) |
D243N |
probably benign |
Het |
Mov10l1 |
G |
T |
15: 88,905,460 (GRCm39) |
V872L |
probably benign |
Het |
Or8g50 |
T |
C |
9: 39,648,693 (GRCm39) |
V194A |
probably benign |
Het |
Or8h9 |
C |
T |
2: 86,789,265 (GRCm39) |
C179Y |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,619,069 (GRCm39) |
F25S |
probably damaging |
Het |
Patj |
A |
C |
4: 98,301,261 (GRCm39) |
N182T |
probably damaging |
Het |
Pik3r6 |
G |
A |
11: 68,419,652 (GRCm39) |
|
probably null |
Het |
Ppil6 |
G |
A |
10: 41,374,406 (GRCm39) |
V96I |
probably benign |
Het |
Sardh |
T |
A |
2: 27,105,125 (GRCm39) |
Q666L |
probably benign |
Het |
Tasp1 |
A |
G |
2: 139,819,538 (GRCm39) |
S222P |
probably damaging |
Het |
Tln2 |
G |
T |
9: 67,157,864 (GRCm39) |
C1158* |
probably null |
Het |
Zfp707 |
T |
A |
15: 75,847,044 (GRCm39) |
C292S |
probably damaging |
Het |
Zfp956 |
A |
G |
6: 47,940,346 (GRCm39) |
E235G |
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 |
|
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 |
IGL02893:Bbs1
|
APN |
19 |
4,947,604 (GRCm39) |
nonsense |
probably null |
|
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 |
2013-06-21 |