Incidental Mutation 'R7696:Bbs1'
| ID |
593684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbs1
|
| Ensembl Gene |
ENSMUSG00000006464 |
| Gene Name |
Bardet-Biedl syndrome 1 |
| Synonyms |
D19Ertd609e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R7696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4936906-4956656 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 4941017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053506]
|
| AlphaFold |
Q3V3N7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053506
|
| SMART Domains |
Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
C |
T |
15: 11,258,224 (GRCm39) |
R512C |
probably damaging |
Het |
| Afap1l2 |
C |
A |
19: 56,902,918 (GRCm39) |
V754L |
probably damaging |
Het |
| Atp5f1a |
T |
A |
18: 77,868,686 (GRCm39) |
I393N |
probably damaging |
Het |
| Bglap2 |
A |
T |
3: 88,285,923 (GRCm39) |
L12Q |
unknown |
Het |
| Bsn |
C |
T |
9: 107,991,700 (GRCm39) |
V1351I |
probably damaging |
Het |
| Cbx1 |
T |
C |
11: 96,697,468 (GRCm39) |
V147A |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,953,434 (GRCm39) |
S484T |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 76,921,106 (GRCm39) |
I298K |
unknown |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,198 (GRCm39) |
I128L |
probably benign |
Het |
| Dhdds |
C |
T |
4: 133,724,225 (GRCm39) |
A30T |
probably damaging |
Het |
| Dnajc12 |
A |
G |
10: 63,242,911 (GRCm39) |
N143S |
probably benign |
Het |
| Eno3 |
T |
G |
11: 70,552,809 (GRCm39) |
N363K |
probably benign |
Het |
| Galnt10 |
T |
A |
11: 57,660,364 (GRCm39) |
D267E |
probably damaging |
Het |
| Galr2 |
C |
T |
11: 116,173,993 (GRCm39) |
R208C |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,788,712 (GRCm39) |
R82C |
unknown |
Het |
| Hspg2 |
T |
A |
4: 137,239,277 (GRCm39) |
F401L |
possibly damaging |
Het |
| Iars1 |
G |
T |
13: 49,860,214 (GRCm39) |
W455L |
probably damaging |
Het |
| Irf1 |
C |
T |
11: 53,667,162 (GRCm39) |
H294Y |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,929,356 (GRCm39) |
L1091P |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,263 (GRCm39) |
D2054A |
probably benign |
Het |
| Map3k2 |
T |
A |
18: 32,353,647 (GRCm39) |
H472Q |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,840,158 (GRCm39) |
D2545G |
probably damaging |
Het |
| Nle1 |
G |
T |
11: 82,795,792 (GRCm39) |
Y218* |
probably null |
Het |
| Pdlim5 |
A |
T |
3: 141,983,623 (GRCm39) |
S377T |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,662,726 (GRCm39) |
M259K |
probably benign |
Het |
| Pou6f1 |
A |
G |
15: 100,481,979 (GRCm39) |
V268A |
probably benign |
Het |
| Prn |
C |
A |
2: 131,788,365 (GRCm39) |
L7I |
unknown |
Het |
| Prpf6 |
C |
T |
2: 181,250,035 (GRCm39) |
A65V |
possibly damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,345 (GRCm39) |
F138L |
probably benign |
Het |
| Ros1 |
C |
T |
10: 52,018,379 (GRCm39) |
V781M |
probably damaging |
Het |
| Sec16a |
C |
A |
2: 26,305,645 (GRCm39) |
|
probably null |
Het |
| Slc44a4 |
G |
A |
17: 35,147,676 (GRCm39) |
G606D |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,756,237 (GRCm39) |
C538* |
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,513,336 (GRCm39) |
Y537C |
probably benign |
Het |
| Speg |
T |
A |
1: 75,405,805 (GRCm39) |
L3003Q |
probably damaging |
Het |
| Ssr3 |
A |
G |
3: 65,299,886 (GRCm39) |
S25P |
probably benign |
Het |
| Stard13 |
C |
A |
5: 150,984,267 (GRCm39) |
R623L |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,181,605 (GRCm39) |
I376T |
probably damaging |
Het |
| Tigd4 |
C |
A |
3: 84,502,224 (GRCm39) |
F380L |
possibly damaging |
Het |
| Tmc4 |
T |
C |
7: 3,672,574 (GRCm39) |
K489E |
probably damaging |
Het |
| Tmem114 |
C |
T |
16: 8,242,353 (GRCm39) |
R55H |
probably benign |
Het |
| Tmem168 |
A |
G |
6: 13,602,937 (GRCm39) |
I143T |
probably benign |
Het |
| Tmem87b |
C |
T |
2: 128,683,237 (GRCm39) |
T397I |
probably damaging |
Het |
| Tom1l1 |
C |
A |
11: 90,563,741 (GRCm39) |
R173L |
probably benign |
Het |
| Trim10 |
G |
A |
17: 37,182,644 (GRCm39) |
R170K |
probably damaging |
Het |
| Usp6nl |
T |
A |
2: 6,429,134 (GRCm39) |
Y222N |
probably damaging |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,494 (GRCm39) |
I690F |
possibly damaging |
Het |
| Zfp1006 |
A |
G |
8: 129,945,794 (GRCm39) |
Y344H |
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 |
|
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 |
|
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'- AAGCACTAGCACCTAGGGAG -3'
(R):5'- ACAGCCATAACTGCTTTGTAATCTG -3'
Sequencing Primer
(F):5'- TCACTAGCAGCAAATCTGTCTG -3'
(R):5'- AATCTGTCAGATGCTGCCTAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation