Incidental Mutation 'R0592:Bbs7'
| ID |
56012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbs7
|
| Ensembl Gene |
ENSMUSG00000037325 |
| Gene Name |
Bardet-Biedl syndrome 7 |
| Synonyms |
8430406N16Rik |
| MMRRC Submission |
038782-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36627291-36667626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36664446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 53
(V53D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040148]
[ENSMUST00000108155]
[ENSMUST00000108156]
[ENSMUST00000142333]
|
| AlphaFold |
Q8K2G4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040148
AA Change: V75D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000047273
Gene: ENSMUSG00000037325
AA Change: V75D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
|
coiled coil region
|
330 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108155
AA Change: V75D
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000103790
Gene: ENSMUSG00000037325
AA Change: V75D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
|
coiled coil region
|
330 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108156
AA Change: V75D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103791
Gene: ENSMUSG00000037325
AA Change: V75D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
|
coiled coil region
|
330 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129671
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142333
AA Change: V53D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118961
Gene: ENSMUSG00000037325
AA Change: V53D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial preweaning lethality, retinal degeneration, obesity, ventriculomegaly, abnormal brain ependyma motile cilium morphology, and male infertility characterized by abnormal sperm flagellar axoneme structures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
| Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
| Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
| Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
| Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
| Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
| Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
| Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
| Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
| Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
| Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
probably benign |
Het |
|
| Other mutations in Bbs7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Bbs7
|
APN |
3 |
36,629,436 (GRCm39) |
makesense |
probably null |
|
|
IGL01533:Bbs7
|
APN |
3 |
36,664,384 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01559:Bbs7
|
APN |
3 |
36,648,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01793:Bbs7
|
APN |
3 |
36,659,831 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01867:Bbs7
|
APN |
3 |
36,627,696 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01955:Bbs7
|
APN |
3 |
36,664,471 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02207:Bbs7
|
APN |
3 |
36,658,639 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02212:Bbs7
|
APN |
3 |
36,648,558 (GRCm39) |
missense |
probably benign |
|
|
IGL02451:Bbs7
|
APN |
3 |
36,664,741 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03267:Bbs7
|
APN |
3 |
36,627,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Bbs7
|
UTSW |
3 |
36,661,866 (GRCm39) |
splice site |
probably null |
|
|
R0243:Bbs7
|
UTSW |
3 |
36,659,883 (GRCm39) |
missense |
probably benign |
|
|
R0326:Bbs7
|
UTSW |
3 |
36,646,525 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0372:Bbs7
|
UTSW |
3 |
36,656,981 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0398:Bbs7
|
UTSW |
3 |
36,644,866 (GRCm39) |
missense |
probably benign |
|
|
R0453:Bbs7
|
UTSW |
3 |
36,661,818 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0485:Bbs7
|
UTSW |
3 |
36,657,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0619:Bbs7
|
UTSW |
3 |
36,661,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0720:Bbs7
|
UTSW |
3 |
36,646,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0963:Bbs7
|
UTSW |
3 |
36,667,412 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1177:Bbs7
|
UTSW |
3 |
36,664,329 (GRCm39) |
splice site |
probably null |
|
|
R1242:Bbs7
|
UTSW |
3 |
36,632,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1336:Bbs7
|
UTSW |
3 |
36,658,593 (GRCm39) |
missense |
probably benign |
|
|
R1401:Bbs7
|
UTSW |
3 |
36,627,706 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1564:Bbs7
|
UTSW |
3 |
36,629,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2417:Bbs7
|
UTSW |
3 |
36,646,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3736:Bbs7
|
UTSW |
3 |
36,661,819 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4282:Bbs7
|
UTSW |
3 |
36,627,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5412:Bbs7
|
UTSW |
3 |
36,653,522 (GRCm39) |
missense |
probably benign |
|
|
R5444:Bbs7
|
UTSW |
3 |
36,666,199 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5932:Bbs7
|
UTSW |
3 |
36,636,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6030:Bbs7
|
UTSW |
3 |
36,657,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6030:Bbs7
|
UTSW |
3 |
36,657,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6148:Bbs7
|
UTSW |
3 |
36,667,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Bbs7
|
UTSW |
3 |
36,646,523 (GRCm39) |
nonsense |
probably null |
|
|
R6897:Bbs7
|
UTSW |
3 |
36,652,460 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6912:Bbs7
|
UTSW |
3 |
36,659,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7224:Bbs7
|
UTSW |
3 |
36,659,877 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7268:Bbs7
|
UTSW |
3 |
36,658,575 (GRCm39) |
missense |
probably benign |
|
|
R7456:Bbs7
|
UTSW |
3 |
36,648,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7959:Bbs7
|
UTSW |
3 |
36,657,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Bbs7
|
UTSW |
3 |
36,648,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Bbs7
|
UTSW |
3 |
36,648,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8182:Bbs7
|
UTSW |
3 |
36,664,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Bbs7
|
UTSW |
3 |
36,661,744 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9040:Bbs7
|
UTSW |
3 |
36,629,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9045:Bbs7
|
UTSW |
3 |
36,666,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9729:Bbs7
|
UTSW |
3 |
36,661,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9798:Bbs7
|
UTSW |
3 |
36,652,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0003:Bbs7
|
UTSW |
3 |
36,629,994 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Bbs7
|
UTSW |
3 |
36,657,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGTAGCCAAATTTCTTTTCCAGA -3'
(R):5'- GGCGGCAGCTTTTCCAAAAGAC -3'
Sequencing Primer
(F):5'- GCCAAATTTCTTTTCCAGAAAAACC -3'
(R):5'- AGACAGATGCGCTACTTGCTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation