Incidental Mutation 'IGL02105:Bbs12'
| ID |
279939 |
| 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: 0.080)
|
| Stock # |
IGL02105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
37366703-37375602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37374296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 248
(L248P)
|
| 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: L363P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: L363P
| 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: L248P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: L248P
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
G |
T |
3: 95,587,374 (GRCm39) |
P734H |
probably damaging |
Het |
| Arfip2 |
A |
T |
7: 105,288,590 (GRCm39) |
I14N |
probably damaging |
Het |
| Asap3 |
G |
T |
4: 135,955,785 (GRCm39) |
|
probably null |
Het |
| Atg2a |
T |
A |
19: 6,300,433 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
A |
T |
2: 27,349,788 (GRCm39) |
I255N |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,879,921 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,659,116 (GRCm39) |
D25E |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,199,651 (GRCm39) |
K1325R |
probably damaging |
Het |
| Dnmt1 |
T |
A |
9: 20,819,178 (GRCm39) |
E1486V |
unknown |
Het |
| Dock2 |
T |
C |
11: 34,605,352 (GRCm39) |
N256D |
probably damaging |
Het |
| Dpp3 |
G |
A |
19: 4,966,799 (GRCm39) |
S408L |
probably damaging |
Het |
| Dync2h1 |
C |
T |
9: 7,075,892 (GRCm39) |
G2992R |
probably damaging |
Het |
| Eef1a1 |
T |
C |
9: 78,387,833 (GRCm39) |
D35G |
probably benign |
Het |
| Fntb |
A |
G |
12: 76,909,263 (GRCm39) |
K84E |
probably benign |
Het |
| Gfi1 |
A |
G |
5: 107,871,588 (GRCm39) |
|
probably null |
Het |
| Glb1l3 |
T |
A |
9: 26,729,823 (GRCm39) |
I516F |
probably damaging |
Het |
| Hltf |
A |
G |
3: 20,146,921 (GRCm39) |
N560S |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,099,041 (GRCm39) |
N1443S |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,902,289 (GRCm39) |
I1330K |
probably benign |
Het |
| Krt20 |
C |
T |
11: 99,328,827 (GRCm39) |
V33M |
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,825,640 (GRCm39) |
T487A |
probably damaging |
Het |
| Larp4 |
A |
G |
15: 99,883,952 (GRCm39) |
E63G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,380,448 (GRCm39) |
V3901A |
probably damaging |
Het |
| Lrrc17 |
A |
G |
5: 21,775,255 (GRCm39) |
I272M |
probably benign |
Het |
| Malrd1 |
A |
T |
2: 16,132,674 (GRCm39) |
Q1865L |
unknown |
Het |
| Mtg1 |
T |
C |
7: 139,730,119 (GRCm39) |
L305P |
probably damaging |
Het |
| Mylk4 |
T |
A |
13: 32,904,545 (GRCm39) |
E427D |
probably benign |
Het |
| Myom1 |
G |
T |
17: 71,354,711 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,292,660 (GRCm39) |
E1104G |
probably damaging |
Het |
| Obox5 |
A |
G |
7: 15,492,500 (GRCm39) |
M152V |
probably benign |
Het |
| Olfm2 |
C |
T |
9: 20,583,476 (GRCm39) |
V203M |
probably damaging |
Het |
| Or2l13 |
T |
G |
16: 19,306,011 (GRCm39) |
L141R |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,891 (GRCm39) |
H228L |
possibly damaging |
Het |
| Pf4 |
A |
G |
5: 90,921,114 (GRCm39) |
S105G |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,631,040 (GRCm39) |
I228N |
probably damaging |
Het |
| Sall1 |
T |
G |
8: 89,759,196 (GRCm39) |
S303R |
probably damaging |
Het |
| Setd5 |
A |
G |
6: 113,094,541 (GRCm39) |
E486G |
probably damaging |
Het |
| Slc9a5 |
C |
T |
8: 106,076,075 (GRCm39) |
P23S |
probably damaging |
Het |
| Tbc1d9b |
T |
A |
11: 50,040,653 (GRCm39) |
I390N |
probably damaging |
Het |
| Trp53 |
T |
C |
11: 69,479,329 (GRCm39) |
V169A |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,262,131 (GRCm39) |
D791G |
probably damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,417 (GRCm39) |
S266P |
possibly damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,174,308 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
C |
T |
9: 119,846,063 (GRCm39) |
G940E |
probably damaging |
Het |
| Zfp407 |
A |
T |
18: 84,580,845 (GRCm39) |
C89* |
probably null |
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 |
|
IGL00698:Bbs12
|
APN |
3 |
37,374,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-04-16 |
Incidental Mutation