Incidental Mutation 'R9753:Bbs12'
ID |
732617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bbs12
|
Ensembl Gene |
ENSMUSG00000051444 |
Gene Name |
Bardet-Biedl syndrome 12 |
Synonyms |
LOC241950, LOC386537, LOC241950 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R9753 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
37366703-37375602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37373680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 43
(C43R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103756
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057975]
[ENSMUST00000108121]
|
AlphaFold |
Q5SUD9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057975
AA Change: C158R
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000052179 Gene: ENSMUSG00000051444 AA Change: C158R
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 |
possibly damaging
Transcript: ENSMUST00000108121
AA Change: C43R
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103756 Gene: ENSMUSG00000051444 AA Change: C43R
Domain | Start | End | E-Value | Type |
Pfam:Cpn60_TCP1
|
181 |
576 |
3.4e-13 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak9 |
G |
A |
10: 41,259,496 (GRCm39) |
V843I |
|
Het |
Brwd1 |
T |
C |
16: 95,825,028 (GRCm39) |
E1145G |
probably damaging |
Het |
C2cd4c |
A |
C |
10: 79,448,067 (GRCm39) |
I360S |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,417,539 (GRCm39) |
N599S |
probably damaging |
Het |
Cd79b |
A |
G |
11: 106,203,457 (GRCm39) |
|
probably null |
Het |
Ces2c |
A |
G |
8: 105,580,249 (GRCm39) |
M489V |
probably benign |
Het |
Clip4 |
A |
G |
17: 72,106,068 (GRCm39) |
N84D |
probably benign |
Het |
Cramp1 |
T |
C |
17: 25,191,320 (GRCm39) |
D1047G |
possibly damaging |
Het |
Cyp2c69 |
C |
T |
19: 39,865,991 (GRCm39) |
V201M |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,223,673 (GRCm39) |
S1154P |
possibly damaging |
Het |
Elk4 |
T |
G |
1: 131,945,881 (GRCm39) |
V253G |
probably benign |
Het |
Erbb4 |
T |
A |
1: 68,238,062 (GRCm39) |
H809L |
probably benign |
Het |
Ext1 |
A |
T |
15: 53,208,067 (GRCm39) |
D231E |
probably damaging |
Het |
Fam221b |
T |
C |
4: 43,665,574 (GRCm39) |
K295E |
probably benign |
Het |
Fbrsl1 |
A |
G |
5: 110,526,835 (GRCm39) |
F2L |
unknown |
Het |
Fnip2 |
C |
T |
3: 79,415,411 (GRCm39) |
R209H |
probably benign |
Het |
Gart |
C |
T |
16: 91,430,949 (GRCm39) |
G371D |
probably damaging |
Het |
Gata6 |
T |
A |
18: 11,064,706 (GRCm39) |
V506D |
possibly damaging |
Het |
Gba2 |
T |
C |
4: 43,568,716 (GRCm39) |
Y620C |
probably damaging |
Het |
Gprc6a |
T |
C |
10: 51,504,364 (GRCm39) |
N160S |
probably benign |
Het |
Gstm3 |
A |
G |
3: 107,875,493 (GRCm39) |
W46R |
probably damaging |
Het |
Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
Hydin |
T |
C |
8: 111,217,398 (GRCm39) |
F1429L |
possibly damaging |
Het |
Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
Itgb1bp1 |
A |
G |
12: 21,326,890 (GRCm39) |
S28P |
unknown |
Het |
Krt10 |
A |
G |
11: 99,279,792 (GRCm39) |
F123L |
unknown |
Het |
Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
Lingo4 |
C |
T |
3: 94,309,493 (GRCm39) |
R144* |
probably null |
Het |
Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
Nrsn1 |
C |
A |
13: 25,437,563 (GRCm39) |
V122L |
probably benign |
Het |
Or10h5 |
C |
A |
17: 33,434,688 (GRCm39) |
G210V |
possibly damaging |
Het |
Or2r2 |
T |
C |
6: 42,463,507 (GRCm39) |
M207V |
probably benign |
Het |
Or4d6 |
T |
A |
19: 12,086,056 (GRCm39) |
M59L |
probably benign |
Het |
Pcgf6 |
T |
C |
19: 47,023,073 (GRCm39) |
T353A |
probably damaging |
Het |
Pcsk2 |
T |
C |
2: 143,635,150 (GRCm39) |
Y342H |
probably damaging |
Het |
Pou2af1 |
A |
T |
9: 51,149,636 (GRCm39) |
N243Y |
possibly damaging |
Het |
Prkcz |
T |
C |
4: 155,377,659 (GRCm39) |
D197G |
probably benign |
Het |
Sec14l4 |
G |
A |
11: 3,989,982 (GRCm39) |
E94K |
probably benign |
Het |
Sik2 |
T |
C |
9: 50,807,139 (GRCm39) |
E757G |
probably damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,463,763 (GRCm39) |
S1154T |
possibly damaging |
Het |
Speer1k |
A |
T |
5: 10,999,020 (GRCm39) |
T53S |
|
Het |
Ssb |
T |
C |
2: 69,697,865 (GRCm39) |
Y175H |
probably damaging |
Het |
St6galnac6 |
T |
C |
2: 32,502,261 (GRCm39) |
I50T |
probably benign |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
Unc13b |
C |
T |
4: 43,182,842 (GRCm39) |
R396* |
probably null |
Het |
Vezt |
A |
G |
10: 93,806,183 (GRCm39) |
S743P |
probably benign |
Het |
Vmn1r77 |
A |
C |
7: 11,775,659 (GRCm39) |
N145T |
probably damaging |
Het |
Vmn2r98 |
A |
C |
17: 19,285,665 (GRCm39) |
T162P |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAGATTGTCTCCATCTGGGG -3'
(R):5'- TGCCTACTGTGAGCTAGTGC -3'
Sequencing Primer
(F):5'- TCGGTAATGTCAGAAGGC -3'
(R):5'- GCTGACTTTTTGCAGAAGGAATC -3'
|
Posted On |
2022-11-14 |