Incidental Mutation 'R0761:Bbs10'
ID 70096
Institutional Source Beutler Lab
Gene Symbol Bbs10
Ensembl Gene ENSMUSG00000035759
Gene Name Bardet-Biedl syndrome 10
Synonyms 1300007O09Rik
MMRRC Submission 038941-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0761 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 111134540-111137588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 111135244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 119 (C119F)
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: C119F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049387
Gene: ENSMUSG00000035759
AA Change: C119F

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 0.2415 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (51/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,833 (GRCm39) Y133C probably benign Het
Adcy5 G A 16: 35,091,195 (GRCm39) probably benign Het
Asb17 A G 3: 153,550,052 (GRCm39) K28R probably damaging Het
Camk2g G A 14: 20,816,280 (GRCm39) Q119* probably null Het
Cdh18 A T 15: 23,226,838 (GRCm39) I46L possibly damaging Het
Cimip2a T C 2: 25,110,135 (GRCm39) probably benign Het
Clmn T A 12: 104,747,817 (GRCm39) N577Y probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crocc T C 4: 140,774,387 (GRCm39) E63G probably benign Het
Crocc T C 4: 140,757,087 (GRCm39) T965A probably benign Het
Cryzl2 A G 1: 157,293,294 (GRCm39) I132V probably benign Het
Csgalnact2 T C 6: 118,103,073 (GRCm39) probably benign Het
Ctr9 T C 7: 110,645,479 (GRCm39) S569P probably damaging Het
Cul3 A G 1: 80,255,203 (GRCm39) probably benign Het
Dcp2 G A 18: 44,543,300 (GRCm39) S286N probably benign Het
Dgkz C T 2: 91,775,696 (GRCm39) R189H probably benign Het
Dst A G 1: 34,221,848 (GRCm39) T2551A probably benign Het
Kcna4 T A 2: 107,126,417 (GRCm39) S384T probably benign Het
Klhl17 T C 4: 156,317,204 (GRCm39) probably null Het
Kmt2e C A 5: 23,708,032 (GRCm39) S1865* probably null Het
L3mbtl1 G A 2: 162,807,967 (GRCm39) R534H probably damaging Het
Lmnb2 A T 10: 80,742,088 (GRCm39) M1K probably null Het
Lrp1b T C 2: 41,075,947 (GRCm39) D1784G probably damaging Het
Lrrc34 A G 3: 30,685,425 (GRCm39) probably null Het
Megf10 C A 18: 57,421,048 (GRCm39) Y895* probably null Het
Mesd G T 7: 83,544,951 (GRCm39) A143S probably damaging Het
Mfap3l G T 8: 61,124,615 (GRCm39) V286L possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Nek1 T A 8: 61,542,489 (GRCm39) D717E probably benign Het
Nudt12 A T 17: 59,318,064 (GRCm39) D60E probably benign Het
Nup205 C T 6: 35,173,363 (GRCm39) probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2j3 A T 17: 38,616,282 (GRCm39) H23Q probably benign Het
Or4a75 T C 2: 89,448,179 (GRCm39) D119G probably damaging Het
Or5w19 C T 2: 87,698,880 (GRCm39) P182S possibly damaging Het
Pacs2 T A 12: 113,023,688 (GRCm39) probably benign Het
Pcdha9 T A 18: 37,133,016 (GRCm39) L695* probably null Het
Pira12 A T 7: 3,896,978 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Polr1e C A 4: 45,027,392 (GRCm39) D207E probably damaging Het
Polr3f T A 2: 144,376,327 (GRCm39) V142E probably damaging Het
Psma6 T A 12: 55,459,127 (GRCm39) W170R possibly damaging Het
Rev3l T C 10: 39,750,191 (GRCm39) Y3114H probably benign Het
Rps6ka5 C T 12: 100,537,141 (GRCm39) A530T probably damaging Het
Simc1 T C 13: 54,674,387 (GRCm39) Y912H probably damaging Het
Tnfrsf1b T C 4: 144,942,670 (GRCm39) D371G possibly damaging Het
Trank1 T C 9: 111,195,681 (GRCm39) V1235A probably damaging Het
Ttn T C 2: 76,577,102 (GRCm39) E24597G probably damaging Het
Ubr2 G A 17: 47,294,242 (GRCm39) P297L probably damaging Het
Unc5d A T 8: 29,186,560 (GRCm39) probably null Het
Xpo4 A G 14: 57,850,840 (GRCm39) F355L probably 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
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'- AGTGTAGACATCAGAGAGCTGCCC -3'
(R):5'- TTCCAGGAGCAACTCTAGCGAGTG -3'

Sequencing Primer
(F):5'- CCTTCCTATACAGGATGATAGTGGC -3'
(R):5'- GAGTGCCTGCACAGTTTTC -3'
Posted On 2013-09-30