Incidental Mutation 'R4730:Bbs10'
| ID |
358774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbs10
|
| Ensembl Gene |
ENSMUSG00000035759 |
| Gene Name |
Bardet-Biedl syndrome 10 |
| Synonyms |
1300007O09Rik |
| MMRRC Submission |
041990-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4730 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
111134540-111137588 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111136995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 703
(K703E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040454]
[ENSMUST00000105275]
|
| AlphaFold |
Q9DBI2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040454
AA Change: K703E
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000049387
Gene: ENSMUSG00000035759
AA Change: K703E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
17 |
103 |
3.6e-15 |
PFAM |
|
Pfam:Cpn60_TCP1
|
139 |
427 |
1.1e-7 |
PFAM |
|
SCOP:d1a6da1
|
567 |
695 |
3e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105275
|
| SMART Domains |
Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
101 |
N/A |
INTRINSIC |
|
coiled coil region
|
113 |
144 |
N/A |
INTRINSIC |
|
PH
|
149 |
267 |
3.65e-16 |
SMART |
|
Pfam:Oxysterol_BP
|
406 |
752 |
4.6e-91 |
PFAM |
|
coiled coil region
|
831 |
853 |
N/A |
INTRINSIC |
|
transmembrane domain
|
871 |
888 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219990
|
| Meta Mutation Damage Score |
0.0595 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (70/71) |
| 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 progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their 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 is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele develop obesity, hyperleptinemia, retinal degeneration, structural defects in renal glomeruli, microalbuminuria, polyuria, increased circulating antidiuretic hormone levels, and vacuolated renal epithelial cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
A |
G |
5: 103,990,939 (GRCm39) |
Q963R |
possibly damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,114,650 (GRCm39) |
E645K |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,487,590 (GRCm39) |
N964S |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Duox1 |
T |
G |
2: 122,164,312 (GRCm39) |
L924R |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,547,618 (GRCm39) |
E398G |
possibly damaging |
Het |
| Engase |
A |
G |
11: 118,373,748 (GRCm39) |
N297D |
probably damaging |
Het |
| Esp4 |
A |
C |
17: 40,913,445 (GRCm39) |
Y104S |
unknown |
Het |
| Esp4 |
C |
A |
17: 40,913,446 (GRCm39) |
Y104* |
probably null |
Het |
| Fat1 |
A |
T |
8: 45,486,514 (GRCm39) |
N3356I |
probably damaging |
Het |
| Gm3867 |
T |
A |
9: 36,168,550 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
C |
T |
7: 38,101,918 (GRCm39) |
|
noncoding transcript |
Het |
| Grip2 |
T |
C |
6: 91,762,693 (GRCm39) |
*175W |
probably null |
Het |
| Gucy1b2 |
A |
G |
14: 62,645,208 (GRCm39) |
V617A |
probably damaging |
Het |
| Gzmc |
C |
T |
14: 56,469,089 (GRCm39) |
C210Y |
probably damaging |
Het |
| Hmg20a |
T |
A |
9: 56,374,703 (GRCm39) |
S20T |
possibly damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,148 (GRCm39) |
L165* |
probably null |
Het |
| Ighv1-26 |
A |
G |
12: 114,752,409 (GRCm39) |
I6T |
probably benign |
Het |
| Kcnk13 |
A |
G |
12: 100,027,974 (GRCm39) |
K350E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,493,416 (GRCm39) |
L198* |
probably null |
Het |
| Lrfn5 |
C |
T |
12: 61,887,505 (GRCm39) |
A431V |
probably benign |
Het |
| Lta |
C |
T |
17: 35,423,065 (GRCm39) |
R86Q |
probably benign |
Het |
| Map3k4 |
T |
A |
17: 12,467,861 (GRCm39) |
I1058L |
probably damaging |
Het |
| Mtif2 |
T |
A |
11: 29,490,834 (GRCm39) |
S513T |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,570,032 (GRCm39) |
T364I |
possibly damaging |
Het |
| Nav1 |
C |
A |
1: 135,535,049 (GRCm39) |
|
probably benign |
Het |
| Nfrkb |
T |
C |
9: 31,321,547 (GRCm39) |
V748A |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,568,738 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or5g25 |
T |
C |
2: 85,478,336 (GRCm39) |
T110A |
probably benign |
Het |
| Or5k1b |
T |
C |
16: 58,581,105 (GRCm39) |
I145V |
probably benign |
Het |
| Or5t17 |
C |
T |
2: 86,832,510 (GRCm39) |
R66W |
possibly damaging |
Het |
| Or6c33 |
G |
A |
10: 129,853,416 (GRCm39) |
R62Q |
probably damaging |
Het |
| Or9g19 |
G |
T |
2: 85,600,405 (GRCm39) |
E87* |
probably null |
Het |
| P4htm |
A |
G |
9: 108,456,971 (GRCm39) |
V412A |
possibly damaging |
Het |
| Phb2 |
T |
C |
6: 124,690,086 (GRCm39) |
S92P |
probably damaging |
Het |
| Phtf1 |
G |
T |
3: 103,894,751 (GRCm39) |
R147L |
probably damaging |
Het |
| Pigk |
C |
T |
3: 152,448,203 (GRCm39) |
Q189* |
probably null |
Het |
| Plxnc1 |
G |
A |
10: 94,703,330 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,713 (GRCm38) |
G252D |
probably damaging |
Het |
| Rnf4 |
G |
T |
5: 34,508,147 (GRCm39) |
V134F |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,620,877 (GRCm39) |
T182A |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,396,502 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
A |
G |
12: 75,781,713 (GRCm39) |
F209L |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 86,024,171 (GRCm39) |
S567T |
possibly damaging |
Het |
| Slc4a2 |
C |
T |
5: 24,639,878 (GRCm39) |
R520W |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,194,751 (GRCm39) |
Q858R |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,956,852 (GRCm39) |
A640E |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,608,073 (GRCm39) |
Y44C |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,632,306 (GRCm39) |
E543G |
possibly damaging |
Het |
| Strn4 |
A |
G |
7: 16,562,719 (GRCm39) |
Q286R |
possibly damaging |
Het |
| Suz12 |
T |
C |
11: 79,892,988 (GRCm39) |
|
probably benign |
Het |
| Syna |
T |
A |
5: 134,587,440 (GRCm39) |
E503V |
probably damaging |
Het |
| Syt14 |
C |
T |
1: 192,613,094 (GRCm39) |
D569N |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,030,457 (GRCm39) |
|
probably benign |
Het |
| Tmprss11g |
G |
T |
5: 86,637,091 (GRCm39) |
S335* |
probably null |
Het |
| Tmprss11g |
A |
T |
5: 86,637,092 (GRCm39) |
S335T |
probably damaging |
Het |
| Trim66 |
A |
G |
7: 109,082,276 (GRCm39) |
S226P |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,707,654 (GRCm39) |
T112A |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 121,092,791 (GRCm39) |
S149G |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,756,582 (GRCm39) |
D108G |
probably null |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
possibly damaging |
Het |
|
| Other mutations in Bbs10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
chalky
|
UTSW |
10 |
111,135,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
wampum
|
UTSW |
10 |
111,135,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Bbs10
|
UTSW |
10 |
111,134,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Bbs10
|
UTSW |
10 |
111,135,194 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0189:Bbs10
|
UTSW |
10 |
111,136,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Bbs10
|
UTSW |
10 |
111,135,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0761:Bbs10
|
UTSW |
10 |
111,135,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1319:Bbs10
|
UTSW |
10 |
111,134,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Bbs10
|
UTSW |
10 |
111,135,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Bbs10
|
UTSW |
10 |
111,136,716 (GRCm39) |
nonsense |
probably null |
|
|
R2361:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3716:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3717:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4407:Bbs10
|
UTSW |
10 |
111,135,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4583:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4607:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4607:Bbs10
|
UTSW |
10 |
111,136,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4608:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4608:Bbs10
|
UTSW |
10 |
111,136,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4609:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4646:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4647:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4648:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4822:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4832:Bbs10
|
UTSW |
10 |
111,136,995 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5056:Bbs10
|
UTSW |
10 |
111,136,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6285:Bbs10
|
UTSW |
10 |
111,135,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6604:Bbs10
|
UTSW |
10 |
111,136,965 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7120:Bbs10
|
UTSW |
10 |
111,135,310 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7174:Bbs10
|
UTSW |
10 |
111,136,628 (GRCm39) |
nonsense |
probably null |
|
|
R7376:Bbs10
|
UTSW |
10 |
111,135,111 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7701:Bbs10
|
UTSW |
10 |
111,135,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8146:Bbs10
|
UTSW |
10 |
111,136,396 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8260:Bbs10
|
UTSW |
10 |
111,136,104 (GRCm39) |
nonsense |
probably null |
|
|
R8832:Bbs10
|
UTSW |
10 |
111,136,266 (GRCm39) |
nonsense |
probably null |
|
|
R9656:Bbs10
|
UTSW |
10 |
111,135,545 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Bbs10
|
UTSW |
10 |
111,136,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Bbs10
|
UTSW |
10 |
111,135,518 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1176:Bbs10
|
UTSW |
10 |
111,134,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATACATGCGGTCTCTCCATG -3'
(R):5'- ACTTCAGTCAGCCAGAAGC -3'
Sequencing Primer
(F):5'- GGTCTCTCCATGCACTGCAAG -3'
(R):5'- GTCTGCGAACATGTGTGTACAAC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation