Incidental Mutation 'IGL03136:Bbs1'
| ID |
410522 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bbs1
|
| Ensembl Gene |
ENSMUSG00000006464 |
| Gene Name |
Bardet-Biedl syndrome 1 |
| Synonyms |
D19Ertd609e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.824)
|
| Stock # |
IGL03136
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4936906-4956656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4941019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 565
(K565R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053506]
|
| AlphaFold |
Q3V3N7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053506
AA Change: K565R
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: K565R
| 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 |
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,719,122 (GRCm39) |
L7S |
unknown |
Het |
| Abr |
C |
T |
11: 76,316,121 (GRCm39) |
W571* |
probably null |
Het |
| Adam18 |
A |
T |
8: 25,131,852 (GRCm39) |
C420S |
probably damaging |
Het |
| Akap5 |
G |
T |
12: 76,376,649 (GRCm39) |
E694* |
probably null |
Het |
| Brix1 |
A |
G |
15: 10,478,852 (GRCm39) |
F189S |
probably damaging |
Het |
| Cnot4 |
C |
A |
6: 35,028,176 (GRCm39) |
R480L |
probably damaging |
Het |
| Ctu2 |
A |
G |
8: 123,205,940 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,401,103 (GRCm39) |
H422R |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,770,118 (GRCm39) |
M1793V |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,892,028 (GRCm39) |
F853L |
probably damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,258,466 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
C |
T |
11: 106,144,639 (GRCm39) |
D117N |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,528,107 (GRCm39) |
I142V |
possibly damaging |
Het |
| Hsd3b1 |
G |
A |
3: 98,760,301 (GRCm39) |
A230V |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,145,156 (GRCm39) |
A836T |
probably benign |
Het |
| Ift52 |
G |
T |
2: 162,867,254 (GRCm39) |
E71* |
probably null |
Het |
| Ms4a14 |
T |
C |
19: 11,281,775 (GRCm39) |
D261G |
possibly damaging |
Het |
| Nid1 |
G |
A |
13: 13,675,084 (GRCm39) |
V935I |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,330,687 (GRCm39) |
K1008E |
possibly damaging |
Het |
| Nup210 |
A |
C |
6: 91,005,843 (GRCm39) |
V1340G |
probably benign |
Het |
| Or2aj4 |
A |
T |
16: 19,385,103 (GRCm39) |
F177I |
probably damaging |
Het |
| Or5b94 |
T |
A |
19: 12,652,331 (GRCm39) |
I254N |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,854,332 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Pdcd6ip |
T |
A |
9: 113,520,567 (GRCm39) |
N139I |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,617,609 (GRCm39) |
V80A |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,768,603 (GRCm39) |
I242T |
probably benign |
Het |
| Prtg |
T |
G |
9: 72,764,267 (GRCm39) |
V580G |
possibly damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,691,329 (GRCm39) |
N1065K |
possibly damaging |
Het |
| Qrich1 |
G |
A |
9: 108,422,117 (GRCm39) |
R577H |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,506,319 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
C |
5: 30,462,725 (GRCm39) |
Y197H |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,201,591 (GRCm39) |
C343R |
probably benign |
Het |
| Smurf2 |
A |
T |
11: 106,721,874 (GRCm39) |
D527E |
probably benign |
Het |
| Spam1 |
C |
T |
6: 24,797,010 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,841,435 (GRCm39) |
V460A |
probably benign |
Het |
| Tgoln1 |
G |
A |
6: 72,591,096 (GRCm39) |
R339W |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,231,512 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
T |
G |
17: 48,671,879 (GRCm39) |
|
probably benign |
Het |
| Ttc39b |
A |
T |
4: 83,155,517 (GRCm39) |
V497E |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,933 (GRCm39) |
T176A |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,797,911 (GRCm39) |
I634N |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,857,592 (GRCm39) |
E2608G |
probably damaging |
Het |
| Zfp575 |
A |
G |
7: 24,285,381 (GRCm39) |
C87R |
probably damaging |
Het |
| Zfp790 |
T |
A |
7: 29,529,320 (GRCm39) |
Y668* |
probably null |
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 |
|
|
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 |
|
R6772:Bbs1
|
UTSW |
19 |
4,956,618 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation