Incidental Mutation 'R6734:Bbs1'
ID |
528369 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bbs1
|
Ensembl Gene |
ENSMUSG00000006464 |
Gene Name |
Bardet-Biedl syndrome 1 |
Synonyms |
D19Ertd609e |
MMRRC Submission |
044852-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.824)
|
Stock # |
R6734 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4936906-4956656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4953924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 80
(S80G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055321
(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 |
probably benign
Transcript: ENSMUST00000053506
AA Change: S80G
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000055321 Gene: ENSMUSG00000006464 AA Change: S80G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158036
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (52/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Ano6 |
A |
G |
15: 95,847,417 (GRCm39) |
K554R |
probably damaging |
Het |
Arhgef10 |
A |
T |
8: 15,025,053 (GRCm39) |
I703F |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Camk1 |
C |
A |
6: 113,311,345 (GRCm39) |
R352L |
probably benign |
Het |
Cand1 |
G |
A |
10: 119,047,897 (GRCm39) |
P531L |
possibly damaging |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Col24a1 |
C |
A |
3: 145,214,429 (GRCm39) |
P1384Q |
probably benign |
Het |
Csmd2 |
C |
A |
4: 128,357,606 (GRCm39) |
T1689K |
probably benign |
Het |
Cyp26a1 |
T |
A |
19: 37,689,660 (GRCm39) |
L452H |
probably damaging |
Het |
Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
Dennd6a |
G |
T |
14: 26,329,774 (GRCm39) |
R115L |
possibly damaging |
Het |
Eml2 |
T |
A |
7: 18,934,432 (GRCm39) |
V377E |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,334,629 (GRCm39) |
E855G |
probably benign |
Het |
Fam149a |
A |
T |
8: 45,834,478 (GRCm39) |
I107K |
probably benign |
Het |
Fam227b |
A |
T |
2: 125,968,896 (GRCm39) |
Y59* |
probably null |
Het |
Fbn2 |
T |
C |
18: 58,169,032 (GRCm39) |
E2249G |
probably damaging |
Het |
Flrt1 |
T |
C |
19: 7,073,524 (GRCm39) |
D341G |
possibly damaging |
Het |
Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
Gsdma2 |
A |
G |
11: 98,540,416 (GRCm39) |
T112A |
possibly damaging |
Het |
Klhl24 |
T |
C |
16: 19,926,279 (GRCm39) |
V269A |
probably damaging |
Het |
Lcorl |
A |
G |
5: 45,890,839 (GRCm39) |
S505P |
probably damaging |
Het |
Liph |
A |
G |
16: 21,802,707 (GRCm39) |
S121P |
probably damaging |
Het |
Lrp4 |
G |
A |
2: 91,316,242 (GRCm39) |
V787M |
possibly damaging |
Het |
Lrrd1 |
A |
C |
5: 3,900,226 (GRCm39) |
D177A |
possibly damaging |
Het |
Mbd1 |
G |
A |
18: 74,409,114 (GRCm39) |
R399H |
probably damaging |
Het |
Naa25 |
C |
T |
5: 121,576,888 (GRCm39) |
T879M |
possibly damaging |
Het |
Naa35 |
T |
G |
13: 59,756,005 (GRCm39) |
L147R |
possibly damaging |
Het |
Ninl |
C |
A |
2: 150,787,003 (GRCm39) |
|
probably null |
Het |
Nrap |
T |
C |
19: 56,333,941 (GRCm39) |
D972G |
probably damaging |
Het |
Or9k7 |
A |
G |
10: 130,046,126 (GRCm39) |
F291S |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,592,551 (GRCm39) |
E31G |
probably damaging |
Het |
Plec |
C |
T |
15: 76,078,603 (GRCm39) |
E41K |
probably damaging |
Het |
Plxnb1 |
A |
T |
9: 108,937,988 (GRCm39) |
K1245* |
probably null |
Het |
Ppfia1 |
T |
C |
7: 144,032,790 (GRCm39) |
T1263A |
probably damaging |
Het |
Prex2 |
G |
A |
1: 11,150,283 (GRCm39) |
V152I |
probably damaging |
Het |
Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
Prss3l |
T |
C |
6: 41,422,321 (GRCm39) |
Y28C |
probably damaging |
Het |
Prune2 |
T |
G |
19: 16,981,097 (GRCm39) |
F85V |
probably damaging |
Het |
Rrp1b |
T |
G |
17: 32,274,278 (GRCm39) |
|
probably benign |
Het |
Sec62 |
A |
G |
3: 30,864,609 (GRCm39) |
T158A |
probably benign |
Het |
Sema6a |
G |
A |
18: 47,412,236 (GRCm39) |
T526I |
probably benign |
Het |
Shank1 |
G |
T |
7: 44,003,110 (GRCm39) |
A1610S |
probably benign |
Het |
Slc24a4 |
T |
C |
12: 102,185,259 (GRCm39) |
V123A |
probably damaging |
Het |
Stk11ip |
T |
C |
1: 75,509,013 (GRCm39) |
V714A |
probably benign |
Het |
Tas1r3 |
T |
C |
4: 155,945,257 (GRCm39) |
T655A |
probably damaging |
Het |
Tns2 |
G |
T |
15: 102,011,551 (GRCm39) |
L10F |
probably damaging |
Het |
Trmt10c |
A |
G |
16: 55,854,489 (GRCm39) |
V382A |
probably benign |
Het |
Unc45a |
G |
C |
7: 79,986,746 (GRCm39) |
T149R |
probably damaging |
Het |
Zhx3 |
T |
G |
2: 160,623,640 (GRCm39) |
I176L |
probably damaging |
Het |
Zscan12 |
T |
A |
13: 21,552,966 (GRCm39) |
C263* |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGTCCTGTTCCAAAGGGTTTG -3'
(R):5'- TCGCCAGGCCTATAATTCAGG -3'
Sequencing Primer
(F):5'- CAAAGGGTTTGGAGGTAACTGG -3'
(R):5'- GGCATTCCCATTTTGCAAGAGAG -3'
|
Posted On |
2018-07-24 |