Incidental Mutation 'IGL01480:Bbs1'
| ID |
88574 |
| 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: 0.835)
|
| Stock # |
IGL01480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4936906-4956656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4944421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 403
(K403E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053506]
|
| AlphaFold |
Q3V3N7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053506
AA Change: K403E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: K403E
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
A |
12: 88,423,635 (GRCm39) |
C379* |
probably null |
Het |
| Ankrd10 |
A |
G |
8: 11,685,592 (GRCm39) |
V9A |
probably benign |
Het |
| Ankrd13a |
A |
T |
5: 114,938,879 (GRCm39) |
|
probably benign |
Het |
| Ccn3 |
A |
G |
15: 54,615,687 (GRCm39) |
Y284C |
probably damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,629 (GRCm39) |
I95V |
probably null |
Het |
| Cyba |
T |
C |
8: 123,151,684 (GRCm39) |
E171G |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,349,197 (GRCm39) |
M2480L |
possibly damaging |
Het |
| Fxyd7 |
A |
T |
7: 30,746,799 (GRCm39) |
Y20* |
probably null |
Het |
| Il22ra1 |
T |
C |
4: 135,472,112 (GRCm39) |
V216A |
probably benign |
Het |
| Mapk10 |
G |
A |
5: 103,074,018 (GRCm39) |
|
probably benign |
Het |
| Mgat5b |
C |
A |
11: 116,869,278 (GRCm39) |
T607K |
probably benign |
Het |
| Optn |
G |
A |
2: 5,050,829 (GRCm39) |
S184L |
probably benign |
Het |
| Or10d5 |
G |
A |
9: 39,861,284 (GRCm39) |
A261V |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,427 (GRCm39) |
I71L |
possibly damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,978 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,321,078 (GRCm39) |
L462P |
possibly damaging |
Het |
| Prkca |
C |
T |
11: 108,083,027 (GRCm39) |
V73M |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,877,115 (GRCm39) |
F339L |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,971,279 (GRCm39) |
V1062A |
probably damaging |
Het |
| Serpina11 |
T |
A |
12: 103,949,110 (GRCm39) |
K354* |
probably null |
Het |
| Sf1 |
T |
C |
19: 6,422,052 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
A |
G |
2: 52,606,451 (GRCm39) |
S112P |
probably benign |
Het |
| Tlr5 |
G |
A |
1: 182,801,064 (GRCm39) |
E123K |
probably benign |
Het |
| Tpp1 |
T |
C |
7: 105,398,260 (GRCm39) |
E301G |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,116 (GRCm39) |
I176F |
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 |
|
|
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 |
2013-11-18 |
Incidental Mutation