Incidental Mutation 'R5954:Bbs12'
ID |
471037 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bbs12
|
Ensembl Gene |
ENSMUSG00000051444 |
Gene Name |
Bardet-Biedl syndrome 12 |
Synonyms |
LOC241950, LOC386537, LOC241950 |
MMRRC Submission |
044143-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R5954 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
37366703-37375602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37374151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 200
(L200F)
|
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: L315F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000052179 Gene: ENSMUSG00000051444 AA Change: L315F
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: L200F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103756 Gene: ENSMUSG00000051444 AA Change: L200F
Domain | Start | End | E-Value | Type |
Pfam:Cpn60_TCP1
|
181 |
576 |
3.4e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138710
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
100% (62/62) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,616,390 (GRCm39) |
I944T |
probably benign |
Het |
Ank2 |
T |
C |
3: 126,791,510 (GRCm39) |
T823A |
probably benign |
Het |
Ankrd42 |
C |
G |
7: 92,273,175 (GRCm39) |
|
probably null |
Het |
Anks4b |
T |
A |
7: 119,781,396 (GRCm39) |
N142K |
possibly damaging |
Het |
Armc5 |
A |
G |
7: 127,841,444 (GRCm39) |
E484G |
probably benign |
Het |
B4galnt3 |
A |
G |
6: 120,202,149 (GRCm39) |
F118L |
possibly damaging |
Het |
Cacna1h |
A |
G |
17: 25,602,175 (GRCm39) |
F1555S |
probably damaging |
Het |
Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Chd6 |
A |
C |
2: 160,807,747 (GRCm39) |
H1822Q |
probably benign |
Het |
Chdh |
C |
T |
14: 29,753,138 (GRCm39) |
R16C |
possibly damaging |
Het |
Cnga1 |
T |
C |
5: 72,762,221 (GRCm39) |
D431G |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,148,983 (GRCm39) |
R1487Q |
probably damaging |
Het |
Farp1 |
T |
A |
14: 121,460,079 (GRCm39) |
V116D |
probably damaging |
Het |
Fbxo24 |
T |
A |
5: 137,617,943 (GRCm39) |
T274S |
probably damaging |
Het |
Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
Gatad2b |
T |
C |
3: 90,258,748 (GRCm39) |
L257P |
probably damaging |
Het |
Gm20402 |
C |
T |
3: 52,176,311 (GRCm39) |
P30L |
probably damaging |
Het |
Gm7932 |
C |
T |
6: 48,839,793 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch8 |
A |
T |
11: 102,371,767 (GRCm39) |
D590E |
unknown |
Het |
Herc1 |
T |
G |
9: 66,358,774 (GRCm39) |
|
probably benign |
Het |
Hsd3b2 |
T |
A |
3: 98,618,875 (GRCm39) |
I357F |
probably benign |
Het |
Ipo5 |
A |
G |
14: 121,157,396 (GRCm39) |
Y78C |
probably damaging |
Het |
Itga8 |
C |
A |
2: 12,137,297 (GRCm39) |
A23S |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kat2a |
A |
G |
11: 100,599,724 (GRCm39) |
V451A |
possibly damaging |
Het |
Knstrn |
A |
G |
2: 118,661,436 (GRCm39) |
|
probably benign |
Het |
Med23 |
A |
G |
10: 24,746,381 (GRCm39) |
|
probably benign |
Het |
Mefv |
A |
G |
16: 3,533,579 (GRCm39) |
Y231H |
probably benign |
Het |
Or4d10 |
A |
T |
19: 12,051,447 (GRCm39) |
I183N |
possibly damaging |
Het |
Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
Or5p69 |
T |
A |
7: 107,966,808 (GRCm39) |
I37N |
probably damaging |
Het |
Or8g21 |
A |
G |
9: 38,906,711 (GRCm39) |
S7P |
probably damaging |
Het |
Pak5 |
G |
T |
2: 135,958,383 (GRCm39) |
T235K |
probably benign |
Het |
Plppr3 |
G |
T |
10: 79,701,960 (GRCm39) |
P294Q |
probably benign |
Het |
Prepl |
A |
G |
17: 85,372,077 (GRCm39) |
F725L |
probably benign |
Het |
Ptchd3 |
A |
T |
11: 121,727,413 (GRCm39) |
|
probably benign |
Het |
Rprd2 |
T |
C |
3: 95,672,175 (GRCm39) |
E1076G |
probably damaging |
Het |
Sarm1 |
C |
A |
11: 78,381,428 (GRCm39) |
E352* |
probably null |
Het |
Sccpdh |
T |
A |
1: 179,508,153 (GRCm39) |
H14Q |
probably benign |
Het |
Senp7 |
A |
G |
16: 55,990,234 (GRCm39) |
I661V |
probably benign |
Het |
Septin3 |
T |
C |
15: 82,174,628 (GRCm39) |
F140L |
probably damaging |
Het |
Spag6 |
G |
T |
2: 18,715,417 (GRCm39) |
Q65H |
probably damaging |
Het |
Tnni3 |
C |
T |
7: 4,522,539 (GRCm39) |
R137H |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,194,201 (GRCm39) |
S742G |
probably benign |
Het |
Ucn3 |
T |
C |
13: 3,991,413 (GRCm39) |
I80V |
probably benign |
Het |
Ulk2 |
A |
T |
11: 61,694,622 (GRCm39) |
|
probably benign |
Het |
Uncx |
C |
T |
5: 139,533,384 (GRCm39) |
S483L |
probably benign |
Het |
Vps39 |
A |
G |
2: 120,155,143 (GRCm39) |
V550A |
probably damaging |
Het |
Zfp697 |
C |
A |
3: 98,335,909 (GRCm39) |
T558K |
probably damaging |
Het |
Zfp790 |
G |
T |
7: 29,528,929 (GRCm39) |
G538V |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATAGCCACTGGATAAGCCGAC -3'
(R):5'- ACTTATTAAATCCCAGGTGTCGG -3'
Sequencing Primer
(F):5'- CTGGATAAGCCGACATGATGGATTTC -3'
(R):5'- TAAATCCCAGGTGTCGGTAACTC -3'
|
Posted On |
2017-03-31 |