Incidental Mutation 'R2015:Bbs10'
ID 222860
Institutional Source Beutler Lab
Gene Symbol Bbs10
Ensembl Gene ENSMUSG00000035759
Gene Name Bardet-Biedl syndrome 10
Synonyms 1300007O09Rik
MMRRC Submission 040024-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2015 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 111134540-111137588 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 111136716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 610 (Q610*)
Ref Sequence ENSEMBL: ENSMUSP00000049387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040454] [ENSMUST00000105275]
AlphaFold Q9DBI2
Predicted Effect probably null
Transcript: ENSMUST00000040454
AA Change: Q610*
SMART Domains Protein: ENSMUSP00000049387
Gene: ENSMUSG00000035759
AA Change: Q610*

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

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,022,672 (GRCm39) M1022K probably benign Het
Abhd4 T A 14: 54,500,289 (GRCm39) H74Q probably damaging Het
Actg1 A G 11: 120,237,636 (GRCm39) S49P possibly damaging Het
Adcy8 C T 15: 64,639,727 (GRCm39) G678S probably benign Het
Aire T C 10: 77,878,792 (GRCm39) D85G probably damaging Het
Akr1c18 T A 13: 4,195,308 (GRCm39) D50V probably damaging Het
Ankrd13a C A 5: 114,930,170 (GRCm39) A185E probably damaging Het
Apc A G 18: 34,448,644 (GRCm39) I1813V probably damaging Het
Armc8 A T 9: 99,365,158 (GRCm39) C661* probably null Het
Blm T C 7: 80,152,147 (GRCm39) E600G probably damaging Het
Bpifb9a T C 2: 154,110,120 (GRCm39) probably null Het
Cdk14 T C 5: 5,430,082 (GRCm39) K15R probably benign Het
Cdr1 A G X: 60,228,420 (GRCm39) F249L probably benign Het
Cep250 A C 2: 155,823,373 (GRCm39) H1009P probably damaging Het
Cfap97d1 C A 11: 101,878,044 (GRCm39) H35Q probably damaging Het
Clasp2 A G 9: 113,740,568 (GRCm39) T495A possibly damaging Het
Col19a1 C G 1: 24,598,834 (GRCm39) G53A unknown Het
Cpne1 G A 2: 155,920,308 (GRCm39) R166C probably damaging Het
Dtx3l G A 16: 35,756,797 (GRCm39) H129Y probably benign Het
Ercc3 A G 18: 32,381,482 (GRCm39) T433A probably benign Het
Gm9936 T A 5: 114,995,482 (GRCm39) probably benign Het
Grina T C 15: 76,132,734 (GRCm39) V167A probably damaging Het
H2ac25 T A 11: 58,845,754 (GRCm39) L64Q probably damaging Het
Hcfc2 A G 10: 82,574,814 (GRCm39) N618D probably benign Het
Herpud1 T C 8: 95,118,834 (GRCm39) V196A probably benign Het
Hlcs A G 16: 94,063,599 (GRCm39) V487A probably benign Het
Hspa9 A T 18: 35,079,701 (GRCm39) Y243N probably damaging Het
Igll1 A G 16: 16,681,639 (GRCm39) S39P probably benign Het
Kdm5a T C 6: 120,408,951 (GRCm39) S1545P probably benign Het
Klra8 C A 6: 130,092,536 (GRCm39) C255F probably damaging Het
Krtap4-6 A T 11: 99,556,398 (GRCm39) C110S unknown Het
Lef1 T A 3: 130,905,236 (GRCm39) I39N probably damaging Het
Lnpep G A 17: 17,799,325 (GRCm39) T110I probably damaging Het
Lrp1 T A 10: 127,376,563 (GRCm39) T4282S probably benign Het
Lrp6 A G 6: 134,457,337 (GRCm39) probably null Het
Ly6g5b A C 17: 35,333,654 (GRCm39) S53A possibly damaging Het
M6pr T G 6: 122,290,332 (GRCm39) N98K probably damaging Het
Mal2 T C 15: 54,464,136 (GRCm39) *176Q probably null Het
Mansc1 T C 6: 134,587,274 (GRCm39) D301G possibly damaging Het
Marchf1 C A 8: 66,574,473 (GRCm39) N11K probably damaging Het
Mast3 T A 8: 71,240,007 (GRCm39) I338F probably benign Het
Mcm3 A G 1: 20,873,804 (GRCm39) L772P probably damaging Het
Mib2 C T 4: 155,742,337 (GRCm39) G176D probably damaging Het
Mier2 A T 10: 79,377,036 (GRCm39) probably null Het
Mogs C T 6: 83,094,631 (GRCm39) R483* probably null Het
Msl2 G T 9: 100,957,304 (GRCm39) probably benign Het
Naa16 A T 14: 79,582,499 (GRCm39) M530K probably damaging Het
Nde1 A T 16: 13,987,321 (GRCm39) probably benign Het
Ndufb10 T C 17: 24,941,503 (GRCm39) probably null Het
Nhsl1 A T 10: 18,387,340 (GRCm39) R205W probably damaging Het
Npffr2 T A 5: 89,730,751 (GRCm39) I227N probably damaging Het
Nup210l T A 3: 90,092,739 (GRCm39) L1231Q probably damaging Het
Or2f1 A G 6: 42,721,784 (GRCm39) E271G probably damaging Het
Or7a39 T C 10: 78,715,222 (GRCm39) I72T possibly damaging Het
Pclo C A 5: 14,571,515 (GRCm39) P300Q probably damaging Het
Pik3c2a T A 7: 115,950,166 (GRCm39) probably null Het
Plekha5 T A 6: 140,480,290 (GRCm39) probably null Het
Pls1 A G 9: 95,643,418 (GRCm39) V527A possibly damaging Het
Ppfia2 T C 10: 106,310,538 (GRCm39) M15T probably benign Het
Prkd2 T A 7: 16,581,602 (GRCm39) C152* probably null Het
Ptprq T G 10: 107,503,283 (GRCm39) K792Q probably damaging Het
Pttg1ip2 T A 5: 5,505,964 (GRCm39) I106L probably benign Het
Rbbp8 T C 18: 11,853,681 (GRCm39) M296T probably benign Het
Rfc3 T C 5: 151,571,003 (GRCm39) probably null Het
Rnf17 A G 14: 56,724,426 (GRCm39) N1090S probably benign Het
Sash1 A T 10: 8,605,177 (GRCm39) V1071D probably benign Het
Sdsl G A 5: 120,601,218 (GRCm39) T18M probably damaging Het
Sepsecs T A 5: 52,804,966 (GRCm39) Q365L probably benign Het
Sgta A T 10: 80,887,130 (GRCm39) V45E probably damaging Het
Slc25a46 A T 18: 31,742,778 (GRCm39) H29Q probably benign Het
Slc2a8 A C 2: 32,871,392 (GRCm39) V136G probably benign Het
Smg7 A T 1: 152,736,259 (GRCm39) N166K probably damaging Het
Spata21 C T 4: 140,834,640 (GRCm39) Q505* probably null Het
Strn4 T C 7: 16,566,953 (GRCm39) S458P possibly damaging Het
Tbc1d22a C T 15: 86,183,885 (GRCm39) T248M probably damaging Het
Trabd T A 15: 88,968,929 (GRCm39) M149K possibly damaging Het
Trpv3 A T 11: 73,170,653 (GRCm39) N178Y probably damaging Het
Try5 C T 6: 41,291,585 (GRCm39) probably null Het
Tsg101 C T 7: 46,558,652 (GRCm39) probably null Het
Ube3b A G 5: 114,549,210 (GRCm39) E738G probably damaging Het
Unc13d A G 11: 115,959,581 (GRCm39) S631P probably damaging Het
Unc5d T C 8: 29,249,007 (GRCm39) T297A probably damaging Het
Usp18 A T 6: 121,245,509 (GRCm39) E1V probably damaging Het
Vapb C A 2: 173,613,391 (GRCm39) P97T probably benign Het
Vmn1r33 T A 6: 66,589,356 (GRCm39) D66V probably benign Het
Vmn2r19 T A 6: 123,292,954 (GRCm39) M332K probably benign Het
Vmn2r71 T A 7: 85,269,845 (GRCm39) M452K probably benign Het
Vps13b T C 15: 35,607,288 (GRCm39) S1074P probably damaging Het
Vwde C A 6: 13,208,337 (GRCm39) G182C possibly damaging Het
Wdfy3 A C 5: 102,008,352 (GRCm39) S2778A probably null Het
Zbtb2 T A 10: 4,319,757 (GRCm39) I90F possibly damaging Het
Zfp518b C A 5: 38,829,345 (GRCm39) V887F probably benign Het
Zfp790 A G 7: 29,528,286 (GRCm39) T324A probably benign Het
Zup1 A G 10: 33,805,820 (GRCm39) V437A possibly damaging 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
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
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

Sequencing Primer
Posted On 2014-08-25