Incidental Mutation 'IGL01695:Bbs5'
| ID |
104243 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bbs5
|
| Ensembl Gene |
ENSMUSG00000063145 |
| Gene Name |
Bardet-Biedl syndrome 5 |
| Synonyms |
1700049I01Rik, 2700023J09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01695
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
69477515-69497915 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69479434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 43
(N43S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074963]
[ENSMUST00000112286]
[ENSMUST00000134659]
|
| AlphaFold |
Q9CZQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074963
AA Change: N43S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074494
Gene: ENSMUSG00000063145
AA Change: N43S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1448
|
7 |
339 |
6.2e-161 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112286
AA Change: N43S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107905
Gene: ENSMUSG00000063145
AA Change: N43S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1448
|
6 |
208 |
1.6e-100 |
PFAM |
|
Pfam:DUF1448
|
206 |
319 |
9.9e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130061
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134659
AA Change: N43S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119377
Gene: ENSMUSG00000063145
AA Change: N43S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1448
|
6 |
88 |
3.1e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144240
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149276
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
T |
A |
7: 81,126,687 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,167 (GRCm39) |
T1483A |
probably benign |
Het |
| Arl5a |
A |
T |
2: 52,302,117 (GRCm39) |
I99N |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,167,435 (GRCm39) |
G1279R |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,156,019 (GRCm39) |
V177A |
probably benign |
Het |
| Calhm5 |
A |
G |
10: 33,968,198 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,167,612 (GRCm39) |
V1795M |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,819,904 (GRCm39) |
E353G |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,236,194 (GRCm39) |
I976L |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,492,841 (GRCm39) |
S551R |
probably damaging |
Het |
| Cyp2b19 |
C |
T |
7: 26,458,489 (GRCm39) |
T68I |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,626,889 (GRCm39) |
E864D |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,192,093 (GRCm39) |
S312P |
probably damaging |
Het |
| Gm6408 |
A |
G |
5: 146,418,939 (GRCm39) |
|
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,082,263 (GRCm39) |
|
probably null |
Het |
| Myh6 |
T |
C |
14: 55,194,870 (GRCm39) |
T662A |
probably benign |
Het |
| Ntn1 |
T |
C |
11: 68,117,430 (GRCm39) |
D473G |
probably benign |
Het |
| Or51a7 |
T |
C |
7: 102,614,790 (GRCm39) |
F161S |
probably damaging |
Het |
| Piezo1 |
A |
T |
8: 123,222,248 (GRCm39) |
C961S |
possibly damaging |
Het |
| Pik3c2a |
T |
C |
7: 116,016,753 (GRCm39) |
T335A |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,462,274 (GRCm39) |
Y140* |
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,041,417 (GRCm39) |
I1749V |
possibly damaging |
Het |
| Ppp1r9a |
T |
A |
6: 5,064,003 (GRCm39) |
N555K |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 116,805,008 (GRCm39) |
H174Q |
probably benign |
Het |
| Reln |
G |
A |
5: 22,125,436 (GRCm39) |
T2749M |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,412,783 (GRCm39) |
N384S |
probably damaging |
Het |
| Scrt1 |
T |
A |
15: 76,403,150 (GRCm39) |
H280L |
unknown |
Het |
| Serpina1f |
C |
A |
12: 103,659,943 (GRCm39) |
C113F |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,639,742 (GRCm39) |
|
probably benign |
Het |
| Strc |
A |
G |
2: 121,205,779 (GRCm39) |
L830P |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,198 (GRCm39) |
S82G |
probably benign |
Het |
| Tmem217 |
T |
A |
17: 29,745,322 (GRCm39) |
H136L |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,773,087 (GRCm39) |
E715G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,360 (GRCm39) |
M2182K |
probably damaging |
Het |
| Ube2d1 |
T |
C |
10: 71,098,082 (GRCm39) |
D12G |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,621,086 (GRCm39) |
D195G |
probably benign |
Het |
|
| Other mutations in Bbs5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01693:Bbs5
|
APN |
2 |
69,493,424 (GRCm39) |
missense |
probably benign |
|
|
IGL02232:Bbs5
|
APN |
2 |
69,485,895 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02418:Bbs5
|
APN |
2 |
69,485,849 (GRCm39) |
makesense |
probably null |
|
|
IGL03280:Bbs5
|
APN |
2 |
69,497,315 (GRCm39) |
splice site |
probably benign |
|
|
R4801:Bbs5
|
UTSW |
2 |
69,485,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Bbs5
|
UTSW |
2 |
69,485,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Bbs5
|
UTSW |
2 |
69,477,578 (GRCm39) |
start gained |
probably benign |
|
|
R6560:Bbs5
|
UTSW |
2 |
69,487,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6936:Bbs5
|
UTSW |
2 |
69,484,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7048:Bbs5
|
UTSW |
2 |
69,484,705 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9741:Bbs5
|
UTSW |
2 |
69,484,695 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Bbs5
|
UTSW |
2 |
69,495,415 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Posted On |
2014-01-21 |
Incidental Mutation