Incidental Mutation 'R6772:Bbs1'
| ID |
532224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbs1
|
| Ensembl Gene |
ENSMUSG00000006464 |
| Gene Name |
Bardet-Biedl syndrome 1 |
| Synonyms |
D19Ertd609e |
| MMRRC Submission |
044888-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R6772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4936906-4956656 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 4956618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025851]
[ENSMUST00000053506]
|
| AlphaFold |
Q3V3N7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025851
|
| SMART Domains |
Protein: ENSMUSP00000025851
Gene: ENSMUSG00000063904
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M49
|
143 |
704 |
1.3e-236 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000053506
AA Change: S5P
|
| SMART Domains |
Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: S5P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Pfam:BBS1
|
23 |
276 |
2.7e-104 |
PFAM |
|
low complexity region
|
293 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
466 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
| Ankrd13a |
A |
G |
5: 114,939,804 (GRCm39) |
H477R |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,958,972 (GRCm39) |
I27F |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,640,781 (GRCm39) |
E76G |
possibly damaging |
Het |
| Camk2a |
T |
C |
18: 61,102,092 (GRCm39) |
S332P |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
| Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
| Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
| Exosc10 |
G |
A |
4: 148,665,591 (GRCm39) |
D818N |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
| Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,487,141 (GRCm39) |
I302V |
probably benign |
Het |
| Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
| Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
| Rlbp1 |
G |
A |
7: 79,033,798 (GRCm39) |
|
probably benign |
Het |
| Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,652,210 (GRCm39) |
H757Q |
probably damaging |
Het |
| Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
| Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
| Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
| Zfp429 |
A |
G |
13: 67,538,317 (GRCm39) |
C376R |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,649,521 (GRCm39) |
Q857H |
probably benign |
Het |
|
| Other mutations in Bbs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Bbs1
|
APN |
19 |
4,943,038 (GRCm39) |
missense |
probably benign |
|
|
IGL01110:Bbs1
|
APN |
19 |
4,942,953 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01116:Bbs1
|
APN |
19 |
4,952,867 (GRCm39) |
splice site |
probably benign |
|
|
IGL01480:Bbs1
|
APN |
19 |
4,944,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Bbs1
|
APN |
19 |
4,952,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02893:Bbs1
|
APN |
19 |
4,947,604 (GRCm39) |
nonsense |
probably null |
|
|
IGL03136:Bbs1
|
APN |
19 |
4,941,019 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03342:Bbs1
|
APN |
19 |
4,947,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bookface
|
UTSW |
19 |
4,947,354 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
PIT4131001:Bbs1
|
UTSW |
19 |
4,949,287 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
PIT4378001:Bbs1
|
UTSW |
19 |
4,941,703 (GRCm39) |
missense |
probably benign |
0.05 |
|
PIT4468001:Bbs1
|
UTSW |
19 |
4,956,190 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0023:Bbs1
|
UTSW |
19 |
4,956,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Bbs1
|
UTSW |
19 |
4,956,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Bbs1
|
UTSW |
19 |
4,945,057 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1423:Bbs1
|
UTSW |
19 |
4,944,291 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1760:Bbs1
|
UTSW |
19 |
4,944,350 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1992:Bbs1
|
UTSW |
19 |
4,941,736 (GRCm39) |
missense |
probably benign |
|
|
R2145:Bbs1
|
UTSW |
19 |
4,953,735 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4097:Bbs1
|
UTSW |
19 |
4,947,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5717:Bbs1
|
UTSW |
19 |
4,947,354 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5947:Bbs1
|
UTSW |
19 |
4,943,022 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6005:Bbs1
|
UTSW |
19 |
4,953,823 (GRCm39) |
nonsense |
probably null |
|
|
R6175:Bbs1
|
UTSW |
19 |
4,940,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Bbs1
|
UTSW |
19 |
4,949,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6734:Bbs1
|
UTSW |
19 |
4,953,924 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6805:Bbs1
|
UTSW |
19 |
4,950,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Bbs1
|
UTSW |
19 |
4,953,880 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7198:Bbs1
|
UTSW |
19 |
4,945,043 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7276:Bbs1
|
UTSW |
19 |
4,947,738 (GRCm39) |
splice site |
probably null |
|
|
R7685:Bbs1
|
UTSW |
19 |
4,956,182 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7696:Bbs1
|
UTSW |
19 |
4,941,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7933:Bbs1
|
UTSW |
19 |
4,941,678 (GRCm39) |
splice site |
probably benign |
|
|
R8446:Bbs1
|
UTSW |
19 |
4,947,633 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8892:Bbs1
|
UTSW |
19 |
4,942,954 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9181:Bbs1
|
UTSW |
19 |
4,941,070 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9602:Bbs1
|
UTSW |
19 |
4,941,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Y5404:Bbs1
|
UTSW |
19 |
4,950,635 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Y5407:Bbs1
|
UTSW |
19 |
4,950,635 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGAGCTCAATTGGCGC -3'
(R):5'- GGCCCCTGTCTTTAATGCAG -3'
Sequencing Primer
(F):5'- ACAGATACTTCTTGGCCATCAG -3'
(R):5'- GCCCCTGTCTTTAATGCAGAAACC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation