Incidental Mutation 'R9181:Bbs1'
ID |
697052 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bbs1
|
Ensembl Gene |
ENSMUSG00000006464 |
Gene Name |
Bardet-Biedl syndrome 1 |
Synonyms |
D19Ertd609e |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.824)
|
Stock # |
R9181 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4936906-4956656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 4941070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 548
(L548R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053506]
|
AlphaFold |
Q3V3N7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053506
AA Change: L548R
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000055321 Gene: ENSMUSG00000006464 AA Change: L548R
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (53/53) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
G |
T |
5: 105,121,962 (GRCm39) |
D138E |
probably benign |
Het |
Acvr2a |
T |
A |
2: 48,760,307 (GRCm39) |
I21K |
probably damaging |
Het |
Adam30 |
C |
G |
3: 98,070,194 (GRCm39) |
P676A |
probably benign |
Het |
Ankrd28 |
A |
C |
14: 31,470,627 (GRCm39) |
H145Q |
probably damaging |
Het |
Ap3m2 |
A |
G |
8: 23,289,774 (GRCm39) |
Y110H |
probably damaging |
Het |
Apoc4 |
A |
G |
7: 19,412,665 (GRCm39) |
S27P |
possibly damaging |
Het |
Cfap99 |
A |
T |
5: 34,471,602 (GRCm39) |
D346V |
probably damaging |
Het |
Ckmt1 |
T |
A |
2: 121,189,870 (GRCm39) |
|
probably benign |
Het |
Col13a1 |
T |
C |
10: 61,703,612 (GRCm39) |
K436E |
possibly damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Dbf4 |
A |
G |
5: 8,462,206 (GRCm39) |
V105A |
possibly damaging |
Het |
Disp2 |
T |
A |
2: 118,617,393 (GRCm39) |
V129E |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,181,194 (GRCm39) |
V1027A |
probably damaging |
Het |
Dst |
T |
A |
1: 34,231,818 (GRCm39) |
I3137N |
probably benign |
Het |
F5 |
A |
G |
1: 164,019,895 (GRCm39) |
D790G |
probably benign |
Het |
Fan1 |
A |
G |
7: 64,016,400 (GRCm39) |
S575P |
probably damaging |
Het |
Gemin5 |
C |
T |
11: 58,021,035 (GRCm39) |
A1051T |
probably benign |
Het |
Gsta4 |
A |
G |
9: 78,105,597 (GRCm39) |
Y9C |
probably damaging |
Het |
H2-M3 |
C |
A |
17: 37,583,172 (GRCm39) |
A211E |
probably damaging |
Het |
Ifna1 |
A |
T |
4: 88,768,453 (GRCm39) |
M44L |
probably benign |
Het |
Ildr2 |
A |
T |
1: 166,122,283 (GRCm39) |
D242V |
probably damaging |
Het |
Kif27 |
G |
T |
13: 58,492,543 (GRCm39) |
Q199K |
probably damaging |
Het |
Lmf1 |
T |
A |
17: 25,804,718 (GRCm39) |
L132H |
probably damaging |
Het |
Mbtd1 |
A |
G |
11: 93,803,241 (GRCm39) |
N173S |
probably benign |
Het |
Mettl25b |
A |
G |
3: 87,835,392 (GRCm39) |
|
probably benign |
Het |
Mgat4c |
A |
T |
10: 102,225,123 (GRCm39) |
N446Y |
probably benign |
Het |
Minar1 |
A |
G |
9: 89,485,394 (GRCm39) |
M1T |
probably null |
Het |
Mocs1 |
T |
A |
17: 49,756,801 (GRCm39) |
M261K |
probably damaging |
Het |
Nlrp10 |
A |
T |
7: 108,524,108 (GRCm39) |
F457L |
probably damaging |
Het |
Nlrp4e |
C |
T |
7: 23,061,270 (GRCm39) |
R954* |
probably null |
Het |
Or4s2 |
T |
C |
2: 88,473,348 (GRCm39) |
M79T |
probably benign |
Het |
Pigu |
T |
C |
2: 155,141,109 (GRCm39) |
I261M |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,375,318 (GRCm39) |
I1576N |
probably damaging |
Het |
Plekhg6 |
A |
C |
6: 125,355,854 (GRCm39) |
|
probably benign |
Het |
Pmpca |
T |
C |
2: 26,283,365 (GRCm39) |
L388P |
probably damaging |
Het |
Polg |
A |
T |
7: 79,104,421 (GRCm39) |
I818N |
probably damaging |
Het |
Pramel46 |
A |
T |
5: 95,418,414 (GRCm39) |
V194D |
probably benign |
Het |
Radil |
A |
G |
5: 142,480,722 (GRCm39) |
Y578H |
probably damaging |
Het |
Retnlb |
A |
G |
16: 48,639,084 (GRCm39) |
D95G |
probably damaging |
Het |
Rufy2 |
A |
T |
10: 62,836,166 (GRCm39) |
Y365F |
possibly damaging |
Het |
Ssc5d |
A |
G |
7: 4,945,814 (GRCm39) |
T949A |
possibly damaging |
Het |
Svil |
C |
A |
18: 5,090,833 (GRCm39) |
R1312S |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,063,994 (GRCm39) |
T7142A |
probably damaging |
Het |
Tert |
A |
T |
13: 73,785,294 (GRCm39) |
|
probably benign |
Het |
Tpbgl |
A |
T |
7: 99,274,776 (GRCm39) |
D360E |
probably damaging |
Het |
Traj13 |
G |
A |
14: 54,443,248 (GRCm39) |
V17I |
unknown |
Het |
Trim13 |
G |
A |
14: 61,842,046 (GRCm39) |
R21Q |
possibly damaging |
Het |
Wdr36 |
T |
C |
18: 32,981,382 (GRCm39) |
V357A |
possibly damaging |
Het |
Xdh |
G |
A |
17: 74,232,006 (GRCm39) |
R235C |
probably damaging |
Het |
Zfp971 |
T |
C |
2: 177,674,736 (GRCm39) |
F112L |
probably damaging |
Het |
Znfx1 |
C |
T |
2: 166,879,738 (GRCm39) |
C1546Y |
probably damaging |
Het |
Znfx1 |
T |
A |
2: 166,880,137 (GRCm39) |
E1413V |
probably benign |
Het |
Zscan4c |
A |
G |
7: 10,743,741 (GRCm39) |
M447V |
probably benign |
Het |
Zyx |
T |
A |
6: 42,334,818 (GRCm39) |
D541E |
probably damaging |
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 |
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 |
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'- TGTCTGCTGGCTCAAGTGAC -3'
(R):5'- TTAACCACAGACACGTGGG -3'
Sequencing Primer
(F):5'- TGGCTCAAGTGACAGGCTC -3'
(R):5'- CCCGAGGCATGCTCTTC -3'
|
Posted On |
2022-02-07 |