Incidental Mutation 'IGL00587:Bbs12'
| ID |
6905 |
| 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 # |
IGL00587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
37366703-37375602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37374346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 265
(T265A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057975]
[ENSMUST00000108121]
|
| AlphaFold |
Q5SUD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057975
AA Change: T380A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: T380A
| 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 damaging
Transcript: ENSMUST00000108121
AA Change: T265A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: T265A
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
A |
C |
15: 97,143,327 (GRCm39) |
M365R |
possibly damaging |
Het |
| Atat1 |
T |
C |
17: 36,208,775 (GRCm39) |
D352G |
probably benign |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,804,225 (GRCm39) |
S43P |
probably damaging |
Het |
| Chchd6 |
A |
T |
6: 89,546,399 (GRCm39) |
|
probably null |
Het |
| Cr2 |
C |
T |
1: 194,836,559 (GRCm39) |
R868Q |
possibly damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,344 (GRCm39) |
S126P |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,711 (GRCm39) |
I794N |
probably damaging |
Het |
| Fga |
A |
T |
3: 82,937,596 (GRCm39) |
S158C |
possibly damaging |
Het |
| Gm14240 |
T |
C |
2: 155,894,870 (GRCm39) |
|
probably null |
Het |
| Itga1 |
C |
A |
13: 115,148,785 (GRCm39) |
V279L |
probably damaging |
Het |
| Kdm1b |
T |
C |
13: 47,222,016 (GRCm39) |
V485A |
probably benign |
Het |
| Mfap3l |
T |
C |
8: 61,124,943 (GRCm39) |
V395A |
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,780,974 (GRCm39) |
V57E |
probably benign |
Het |
| P2ry12 |
A |
T |
3: 59,125,303 (GRCm39) |
I124K |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,977,550 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,470,222 (GRCm39) |
|
probably benign |
Het |
| Rab28 |
T |
C |
5: 41,860,799 (GRCm39) |
R52G |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,745 (GRCm39) |
|
probably null |
Het |
| Sel1l2 |
G |
A |
2: 140,085,864 (GRCm39) |
L539F |
possibly damaging |
Het |
| Ticam2 |
T |
C |
18: 46,693,880 (GRCm39) |
E69G |
probably benign |
Het |
| Zcchc2 |
T |
A |
1: 105,957,993 (GRCm39) |
S821R |
probably benign |
Het |
| Zcchc4 |
T |
A |
5: 52,973,511 (GRCm39) |
S379T |
probably benign |
Het |
| Zfp53 |
T |
C |
17: 21,728,600 (GRCm39) |
V211A |
probably benign |
Het |
| Zmym2 |
T |
G |
14: 57,140,817 (GRCm39) |
S219A |
possibly damaging |
Het |
|
| Other mutations in Bbs12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00698:Bbs12
|
APN |
3 |
37,374,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2012-04-20 |
Incidental Mutation