Incidental Mutation 'R1298:Bbs4'
| ID |
158218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbs4
|
| Ensembl Gene |
ENSMUSG00000025235 |
| Gene Name |
Bardet-Biedl syndrome 4 |
| Synonyms |
D9Ertd464e |
| MMRRC Submission |
039364-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.607)
|
| Stock # |
R1298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
59229273-59260791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59247096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 135
(W135R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026265]
|
| AlphaFold |
Q8C1Z7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026265
AA Change: W135R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026265
Gene: ENSMUSG00000025235
AA Change: W135R
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
67 |
100 |
1.64e1 |
SMART |
|
TPR
|
101 |
134 |
1.14e1 |
SMART |
|
TPR
|
135 |
168 |
5.19e-3 |
SMART |
|
TPR
|
169 |
201 |
3.67e-3 |
SMART |
|
TPR
|
202 |
235 |
9.68e-3 |
SMART |
|
TPR
|
270 |
303 |
1.26e-1 |
SMART |
|
TPR
|
304 |
337 |
2.38e-2 |
SMART |
|
TPR
|
338 |
371 |
1.64e1 |
SMART |
|
low complexity region
|
490 |
504 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214832
|
| Meta Mutation Damage Score |
0.9231 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity and polyphagia after weaning, retinal degeneration, male infertility, absence of sperm cell flagella, renal abnormalities, impaired olfaction, and abnormal olfactory epithelium and neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
G |
6: 116,404,225 (GRCm39) |
W145R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
| Cavin4 |
T |
C |
4: 48,672,593 (GRCm39) |
V346A |
probably benign |
Het |
| Cdk18 |
A |
C |
1: 132,050,189 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
C |
T |
4: 96,195,497 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,136,118 (GRCm39) |
I1007K |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,852,752 (GRCm39) |
E118G |
probably benign |
Het |
| Eef2 |
C |
CN |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Eif1ad5 |
T |
A |
12: 87,946,853 (GRCm39) |
D98E |
probably benign |
Het |
| Gm14496 |
T |
C |
2: 181,637,885 (GRCm39) |
F320L |
probably benign |
Het |
| Gsdmc3 |
A |
T |
15: 63,732,130 (GRCm39) |
L299M |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,066,971 (GRCm39) |
I472V |
probably benign |
Het |
| Hao2 |
G |
T |
3: 98,790,985 (GRCm39) |
T63K |
possibly damaging |
Het |
| Jag2 |
C |
T |
12: 112,879,939 (GRCm39) |
|
probably benign |
Het |
| Mapre3 |
A |
G |
5: 31,022,211 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,393,334 (GRCm39) |
S2966P |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,169,952 (GRCm39) |
V696E |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,945,723 (GRCm39) |
Y4163H |
possibly damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,337 (GRCm39) |
Y251* |
probably null |
Het |
| Or12e8 |
G |
A |
2: 87,188,414 (GRCm39) |
A209T |
probably benign |
Het |
| Or6c3 |
G |
T |
10: 129,308,933 (GRCm39) |
C124F |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,156,409 (GRCm39) |
E607G |
probably benign |
Het |
| Pinlyp |
T |
A |
7: 24,244,391 (GRCm39) |
D51V |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,399,828 (GRCm39) |
I87N |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,618,442 (GRCm39) |
I459V |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,989,297 (GRCm39) |
N137D |
possibly damaging |
Het |
| Smg1 |
A |
T |
7: 117,767,434 (GRCm39) |
|
probably benign |
Het |
| Sobp |
T |
A |
10: 42,898,331 (GRCm39) |
H418L |
probably damaging |
Het |
| Spock1 |
A |
C |
13: 57,660,563 (GRCm39) |
D180E |
probably benign |
Het |
| Upk3a |
G |
A |
15: 84,904,752 (GRCm39) |
V167I |
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,572 (GRCm39) |
V245A |
possibly damaging |
Het |
| Zbtb25 |
T |
C |
12: 76,396,775 (GRCm39) |
E149G |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,377,538 (GRCm39) |
C44R |
possibly damaging |
Het |
|
| Other mutations in Bbs4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Bbs4
|
APN |
9 |
59,231,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01360:Bbs4
|
APN |
9 |
59,247,131 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02005:Bbs4
|
APN |
9 |
59,243,638 (GRCm39) |
splice site |
probably benign |
|
|
IGL02150:Bbs4
|
APN |
9 |
59,243,651 (GRCm39) |
missense |
probably benign |
|
|
IGL02278:Bbs4
|
APN |
9 |
59,248,451 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02402:Bbs4
|
APN |
9 |
59,237,729 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02593:Bbs4
|
APN |
9 |
59,235,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03328:Bbs4
|
APN |
9 |
59,251,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Bbs4
|
UTSW |
9 |
59,230,259 (GRCm39) |
makesense |
probably null |
|
|
R1944:Bbs4
|
UTSW |
9 |
59,237,698 (GRCm39) |
splice site |
probably null |
|
|
R2986:Bbs4
|
UTSW |
9 |
59,248,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Bbs4
|
UTSW |
9 |
59,237,708 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4701:Bbs4
|
UTSW |
9 |
59,230,802 (GRCm39) |
missense |
probably benign |
|
|
R6930:Bbs4
|
UTSW |
9 |
59,230,764 (GRCm39) |
missense |
probably benign |
|
|
R8685:Bbs4
|
UTSW |
9 |
59,247,138 (GRCm39) |
missense |
probably benign |
|
|
R9522:Bbs4
|
UTSW |
9 |
59,260,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGCTGATGCTTACGAACTCC -3'
(R):5'- CCGGTTCCAAGTTATCCTTGGTCAC -3'
Sequencing Primer
(F):5'- tgcatttcaggtcagccag -3'
(R):5'- CAAGTTATCCTTGGTCACACAGTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation