Incidental Mutation 'IGL00698:Bbs12'
ID |
9210 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bbs12
|
Ensembl Gene |
ENSMUSG00000051444 |
Gene Name |
Bardet-Biedl syndrome 12 |
Synonyms |
LOC241950, LOC386537, LOC241950 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
IGL00698
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
37366703-37375602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37374943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 579
(S579P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052179
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057975]
[ENSMUST00000108121]
|
AlphaFold |
Q5SUD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057975
AA Change: S579P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000052179 Gene: ENSMUSG00000051444 AA Change: S579P
Domain | Start | End | E-Value | Type |
Pfam:Cpn60_TCP1
|
22 |
153 |
5.6e-8 |
PFAM |
Pfam:Cpn60_TCP1
|
299 |
568 |
4.1e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108121
AA Change: S464P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103756 Gene: ENSMUSG00000051444 AA Change: S464P
Domain | Start | End | E-Value | Type |
Pfam:Cpn60_TCP1
|
181 |
576 |
3.4e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138710
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for a targeted allele exhibit enhanced adipogenesis, late onset obesity, increased susceptibility to diet-induced obesity, increased insulin sensitivity, increased glucose usage, and decreased inflammatory response. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 10 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544G11Rik |
T |
A |
6: 65,929,879 (GRCm39) |
V38E |
probably damaging |
Het |
Chd3 |
A |
G |
11: 69,240,697 (GRCm39) |
S1487P |
probably damaging |
Het |
Cobl |
G |
T |
11: 12,203,722 (GRCm39) |
N986K |
probably benign |
Het |
Cpd |
T |
C |
11: 76,731,270 (GRCm39) |
E312G |
possibly damaging |
Het |
Fat4 |
C |
A |
3: 39,035,294 (GRCm39) |
P2982Q |
probably benign |
Het |
Hsf3 |
A |
G |
X: 95,382,087 (GRCm39) |
I23T |
possibly damaging |
Het |
Mettl25 |
C |
A |
10: 105,629,201 (GRCm39) |
C487F |
probably null |
Het |
Ranbp17 |
T |
C |
11: 33,391,910 (GRCm39) |
T34A |
probably benign |
Het |
Zfc3h1 |
T |
C |
10: 115,255,737 (GRCm39) |
F1463L |
possibly damaging |
Het |
Zfp959 |
A |
G |
17: 56,204,565 (GRCm39) |
T201A |
possibly damaging |
Het |
|
Other mutations in Bbs12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00587:Bbs12
|
APN |
3 |
37,374,346 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02105:Bbs12
|
APN |
3 |
37,374,296 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02110:Bbs12
|
APN |
3 |
37,373,336 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03036:Bbs12
|
APN |
3 |
37,373,343 (GRCm39) |
missense |
possibly damaging |
0.86 |
haribo
|
UTSW |
3 |
37,374,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R0310:Bbs12
|
UTSW |
3 |
37,375,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Bbs12
|
UTSW |
3 |
37,374,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Bbs12
|
UTSW |
3 |
37,374,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Bbs12
|
UTSW |
3 |
37,373,215 (GRCm39) |
missense |
probably damaging |
0.97 |
R2152:Bbs12
|
UTSW |
3 |
37,375,309 (GRCm39) |
nonsense |
probably null |
|
R4455:Bbs12
|
UTSW |
3 |
37,374,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R4472:Bbs12
|
UTSW |
3 |
37,373,369 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4762:Bbs12
|
UTSW |
3 |
37,374,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R5208:Bbs12
|
UTSW |
3 |
37,374,422 (GRCm39) |
missense |
probably benign |
0.07 |
R5841:Bbs12
|
UTSW |
3 |
37,373,670 (GRCm39) |
missense |
probably benign |
0.05 |
R5864:Bbs12
|
UTSW |
3 |
37,373,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R5872:Bbs12
|
UTSW |
3 |
37,374,598 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5941:Bbs12
|
UTSW |
3 |
37,374,197 (GRCm39) |
missense |
probably damaging |
0.98 |
R5954:Bbs12
|
UTSW |
3 |
37,374,151 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6125:Bbs12
|
UTSW |
3 |
37,374,700 (GRCm39) |
missense |
probably benign |
0.01 |
R6562:Bbs12
|
UTSW |
3 |
37,374,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R6886:Bbs12
|
UTSW |
3 |
37,373,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R7454:Bbs12
|
UTSW |
3 |
37,375,102 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9130:Bbs12
|
UTSW |
3 |
37,373,205 (GRCm39) |
intron |
probably benign |
|
R9190:Bbs12
|
UTSW |
3 |
37,375,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R9288:Bbs12
|
UTSW |
3 |
37,374,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R9404:Bbs12
|
UTSW |
3 |
37,373,557 (GRCm39) |
missense |
probably damaging |
0.99 |
R9753:Bbs12
|
UTSW |
3 |
37,373,680 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9792:Bbs12
|
UTSW |
3 |
37,374,224 (GRCm39) |
missense |
possibly damaging |
0.59 |
R9795:Bbs12
|
UTSW |
3 |
37,374,224 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Posted On |
2012-12-06 |