Incidental Mutation 'R0097:Bbs10'
ID 41161
Institutional Source Beutler Lab
Gene Symbol Bbs10
Ensembl Gene ENSMUSG00000035759
Gene Name Bardet-Biedl syndrome 10
Synonyms 1300007O09Rik
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0097 (G1)
Quality Score 207
Status Validated
Chromosome 10
Chromosomal Location 111134540-111137588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111134705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 41 (V41A)
Ref Sequence ENSEMBL: ENSMUSP00000049387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040454] [ENSMUST00000105275]
AlphaFold Q9DBI2
Predicted Effect probably damaging
Transcript: ENSMUST00000040454
AA Change: V41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049387
Gene: ENSMUSG00000035759
AA Change: V41A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.3537 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Albfm1 T A 5: 90,732,795 (GRCm39) S535R probably benign Het
Arfgap2 T A 2: 91,105,160 (GRCm39) V422E probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Ciao3 T C 17: 25,995,976 (GRCm39) S67P possibly damaging Het
Cldnd1 A G 16: 58,550,078 (GRCm39) N87S possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Ddx41 A T 13: 55,683,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,577,109 (GRCm39) R188S probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Llgl2 T A 11: 115,735,323 (GRCm39) Y59* probably null Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Nol4 C A 18: 22,852,198 (GRCm39) A456S probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Sh3pxd2b T A 11: 32,353,978 (GRCm39) I182N probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ubp1 T C 9: 113,802,575 (GRCm39) probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) probably benign Het
Other mutations in Bbs10
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4730: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'- TCTTCCGCCAATCGATGCCAAAG -3'
(R):5'- TGGGCAGCTCTCTGATGTCTACAC -3'

Sequencing Primer
(F):5'- TCGATGCCAAAGCTACTGCTC -3'
(R):5'- ATGTCTACACTGGTTTTATCCAGG -3'
Posted On 2013-05-23