Incidental Mutation 'R4097:Bbs1'
| ID |
317191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbs1
|
| Ensembl Gene |
ENSMUSG00000006464 |
| Gene Name |
Bardet-Biedl syndrome 1 |
| Synonyms |
D19Ertd609e |
| MMRRC Submission |
040984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R4097 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4936906-4956656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4947345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 358
(Y358F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053506]
|
| AlphaFold |
Q3V3N7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053506
AA Change: Y358F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: Y358F
| 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 |
|
| Meta Mutation Damage Score |
0.3697 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,348,228 (GRCm39) |
F292L |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,578,703 (GRCm39) |
D664G |
possibly damaging |
Het |
| Becn1 |
C |
T |
11: 101,185,092 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,647,265 (GRCm39) |
N47I |
possibly damaging |
Het |
| Clec4n |
A |
T |
6: 123,207,700 (GRCm39) |
H55L |
possibly damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,478,939 (GRCm39) |
I222V |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,420,871 (GRCm39) |
E370G |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,386,480 (GRCm39) |
V413E |
probably damaging |
Het |
| Dctn2 |
C |
T |
10: 127,113,362 (GRCm39) |
L249F |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,881,285 (GRCm39) |
S146G |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,778,852 (GRCm39) |
L315* |
probably null |
Het |
| Evpl |
T |
C |
11: 116,114,003 (GRCm39) |
E1229G |
possibly damaging |
Het |
| Ice2 |
T |
C |
9: 69,328,953 (GRCm39) |
V775A |
possibly damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,054,787 (GRCm39) |
E69G |
probably benign |
Het |
| Lrrc66 |
T |
A |
5: 73,765,047 (GRCm39) |
R665S |
possibly damaging |
Het |
| Mpdz |
T |
A |
4: 81,253,937 (GRCm39) |
H1065L |
probably damaging |
Het |
| Nrf1 |
C |
T |
6: 30,151,671 (GRCm39) |
Q503* |
probably null |
Het |
| Nt5dc3 |
G |
A |
10: 86,669,820 (GRCm39) |
A472T |
probably benign |
Het |
| Oprk1 |
T |
A |
1: 5,673,034 (GRCm39) |
|
probably benign |
Het |
| Or7g17 |
T |
C |
9: 18,767,933 (GRCm39) |
I4T |
probably benign |
Het |
| Or9g3 |
T |
C |
2: 85,590,040 (GRCm39) |
I227V |
possibly damaging |
Het |
| Pramel6 |
T |
G |
2: 87,339,697 (GRCm39) |
F154V |
probably benign |
Het |
| Ralb |
T |
C |
1: 119,411,228 (GRCm39) |
D37G |
probably benign |
Het |
| Ranbp9 |
A |
T |
13: 43,574,733 (GRCm39) |
Y412N |
probably damaging |
Het |
| Scg2 |
T |
A |
1: 79,413,538 (GRCm39) |
D395V |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpine3 |
T |
A |
14: 62,908,395 (GRCm39) |
L141Q |
probably damaging |
Het |
| Sgpl1 |
C |
T |
10: 60,939,017 (GRCm39) |
G394D |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,412,951 (GRCm39) |
Y44C |
probably damaging |
Het |
| Slc6a20b |
A |
G |
9: 123,441,822 (GRCm39) |
|
probably benign |
Het |
| Snapc5 |
T |
C |
9: 64,087,809 (GRCm39) |
I40T |
probably damaging |
Het |
| Spopl |
T |
C |
2: 23,401,413 (GRCm39) |
H365R |
probably benign |
Het |
| Stil |
T |
A |
4: 114,880,797 (GRCm39) |
I447N |
probably benign |
Het |
| Taf3 |
C |
A |
2: 9,957,178 (GRCm39) |
V330F |
possibly damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,592,784 (GRCm39) |
E232G |
probably damaging |
Het |
| Thrap3 |
A |
G |
4: 126,065,595 (GRCm39) |
L729P |
probably damaging |
Het |
| Tmem269 |
A |
T |
4: 119,062,977 (GRCm39) |
F220Y |
probably damaging |
Het |
| Tnrc18 |
ATCTTCC |
A |
5: 142,759,561 (GRCm39) |
|
probably benign |
Het |
| Ubxn6 |
T |
C |
17: 56,376,712 (GRCm39) |
T227A |
probably benign |
Het |
| Wdr17 |
C |
A |
8: 55,088,504 (GRCm39) |
R1182I |
probably damaging |
Het |
| Wdr26 |
T |
C |
1: 181,010,352 (GRCm39) |
I550V |
probably benign |
Het |
| Wdr43 |
A |
G |
17: 71,964,532 (GRCm39) |
N637S |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,005,381 (GRCm39) |
T762A |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTGTATTTCTAAGGCCCATCC -3'
(R):5'- TATTTCCGCGTGAAGCCCTG -3'
Sequencing Primer
(F):5'- GTGTTGCCACCAGTAAACTG -3'
(R):5'- TTGCCAGGGTAAGAAGCT -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation