Incidental Mutation 'R0127:Bbs1'
ID 21494
Institutional Source Beutler Lab
Gene Symbol Bbs1
Ensembl Gene ENSMUSG00000006464
Gene Name Bardet-Biedl syndrome 1
Synonyms D19Ertd609e
MMRRC Submission 038412-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.824) question?
Stock # R0127 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 19
Chromosomal Location 4936906-4956656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4945057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 371 (D371E)
Ref Sequence ENSEMBL: ENSMUSP00000055321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053506]
AlphaFold Q3V3N7
Predicted Effect probably benign
Transcript: ENSMUST00000053506
AA Change: D371E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: D371E

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:BBS1 23 276 2.7e-104 PFAM
low complexity region 293 305 N/A INTRINSIC
low complexity region 458 466 N/A INTRINSIC
Meta Mutation Damage Score 0.1527 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 99% (85/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,342 (GRCm39) T152A probably benign Het
Abca1 T C 4: 53,067,155 (GRCm39) I1351V probably benign Het
Acap1 A T 11: 69,778,043 (GRCm39) probably benign Het
Als2cl T C 9: 110,720,935 (GRCm39) L521P probably damaging Het
Ankrd50 T C 3: 38,510,384 (GRCm39) D661G probably benign Het
Atp6v1b2 T A 8: 69,556,112 (GRCm39) N262K probably damaging Het
Baz1a T A 12: 54,945,491 (GRCm39) D1288V possibly damaging Het
Bphl A G 13: 34,248,029 (GRCm39) probably benign Het
Caskin2 C A 11: 115,691,820 (GRCm39) R988S probably damaging Het
Cbr1 C A 16: 93,406,875 (GRCm39) T197N probably damaging Het
Ccdc88c T C 12: 100,901,999 (GRCm39) E1213G possibly damaging Het
Ccna1 A G 3: 54,957,169 (GRCm39) F83L probably damaging Het
Cep290 T A 10: 100,372,787 (GRCm39) probably benign Het
Cep89 C A 7: 35,127,687 (GRCm39) T543K possibly damaging Het
Cmtm7 T C 9: 114,610,738 (GRCm39) M45V probably benign Het
Col16a1 T A 4: 129,946,650 (GRCm39) V91E probably damaging Het
Csmd3 T C 15: 47,845,326 (GRCm39) N920S probably benign Het
Cyp26b1 A G 6: 84,554,190 (GRCm39) probably benign Het
Dao T A 5: 114,158,024 (GRCm39) H215Q probably damaging Het
Dido1 T C 2: 180,313,617 (GRCm39) D885G probably benign Het
Dlx4 T G 11: 95,032,055 (GRCm39) M240L probably benign Het
Dnah5 C T 15: 28,295,071 (GRCm39) P1351L probably damaging Het
Dnah6 T A 6: 73,015,717 (GRCm39) probably benign Het
Dock5 A T 14: 68,083,491 (GRCm39) D139E probably benign Het
Dynlt5 T C 4: 102,859,649 (GRCm39) probably benign Het
Fam234b T C 6: 135,195,821 (GRCm39) probably benign Het
Fat2 T C 11: 55,180,112 (GRCm39) T1410A probably benign Het
Fsip2 T A 2: 82,815,269 (GRCm39) N3667K probably benign Het
Gm5114 T C 7: 39,057,880 (GRCm39) I580V probably benign Het
Hapln1 A T 13: 89,755,988 (GRCm39) Y264F probably benign Het
Heatr5a A G 12: 51,972,188 (GRCm39) V694A probably benign Het
Hps1 A G 19: 42,759,550 (GRCm39) probably benign Het
Igsf9b G T 9: 27,245,681 (GRCm39) R1216L possibly damaging Het
Il4ra G T 7: 125,168,242 (GRCm39) C87F probably damaging Het
Kmt5b A G 19: 3,836,465 (GRCm39) M1V probably null Het
Krit1 A G 5: 3,872,178 (GRCm39) E401G probably damaging Het
Lamp1 T C 8: 13,224,491 (GRCm39) V385A probably damaging Het
Ly6g5b A G 17: 35,333,567 (GRCm39) Y82H probably damaging Het
Mapre2 A G 18: 23,937,232 (GRCm39) I25V probably benign Het
Mep1a A G 17: 43,808,777 (GRCm39) probably benign Het
Mkrn1 A G 6: 39,376,209 (GRCm39) W466R probably benign Het
Muc2 C A 7: 141,302,691 (GRCm39) F11L probably benign Het
Nebl T A 2: 17,397,794 (GRCm39) M501L probably benign Het
Oga A T 19: 45,760,327 (GRCm39) I277N probably damaging Het
Or11g2 A G 14: 50,855,789 (GRCm39) I37V probably benign Het
Or4p18 A G 2: 88,232,699 (GRCm39) V193A probably benign Het
Or5w8 A G 2: 87,687,827 (GRCm39) I103V probably benign Het
Or8g32 A G 9: 39,305,238 (GRCm39) I50M probably benign Het
Pkd1l2 A G 8: 117,776,787 (GRCm39) probably benign Het
Pkhd1l1 A G 15: 44,418,001 (GRCm39) M2886V probably damaging Het
Pop5 T A 5: 115,378,230 (GRCm39) L58H probably damaging Het
Prkch C A 12: 73,768,561 (GRCm39) H444N possibly damaging Het
Reln T C 5: 22,209,134 (GRCm39) D1148G probably damaging Het
Rffl G A 11: 82,703,458 (GRCm39) T120M probably damaging Het
Rmdn2 A T 17: 79,977,998 (GRCm39) S320C probably damaging Het
Rrbp1 C T 2: 143,831,864 (GRCm39) R101H probably benign Het
Rtf1 G A 2: 119,557,224 (GRCm39) R443H probably damaging Het
Serac1 G T 17: 6,099,115 (GRCm39) L559I probably damaging Het
Slc12a1 A G 2: 125,061,682 (GRCm39) R958G probably damaging Het
Slc15a3 T A 19: 10,833,350 (GRCm39) W456R probably damaging Het
Slc28a2b T A 2: 122,347,550 (GRCm39) probably null Het
Slc35f5 C T 1: 125,503,942 (GRCm39) P290L probably damaging Het
Slc35g2 C T 9: 100,435,170 (GRCm39) R167Q probably benign Het
Spag4 T C 2: 155,909,962 (GRCm39) V302A probably damaging Het
Spire2 A C 8: 124,084,836 (GRCm39) probably benign Het
Sptbn2 G T 19: 4,774,772 (GRCm39) V142L probably damaging Het
Syt17 T A 7: 118,009,164 (GRCm39) D352V probably damaging Het
Tars3 A T 7: 65,314,717 (GRCm39) D425V probably benign Het
Thsd7a A G 6: 12,554,907 (GRCm39) S326P probably benign Het
Tnpo2 T C 8: 85,767,257 (GRCm39) S64P probably damaging Het
Tonsl G T 15: 76,517,685 (GRCm39) A678D probably benign Het
Trim12c A G 7: 103,990,113 (GRCm39) probably null Het
Tsc22d1 A G 14: 76,656,421 (GRCm39) T885A possibly damaging Het
Ttn T C 2: 76,572,542 (GRCm39) D26117G probably damaging Het
Ttn T A 2: 76,707,355 (GRCm39) probably benign Het
Ugt3a1 T C 15: 9,306,342 (GRCm39) F164L probably benign Het
Vmn2r89 A G 14: 51,693,160 (GRCm39) N170S probably damaging Het
Vrk2 G T 11: 26,484,313 (GRCm39) probably benign Het
Wt1 C A 2: 104,963,802 (GRCm39) D207E probably damaging Het
Zbtb46 G A 2: 181,053,608 (GRCm39) A368V probably benign Het
Zc3h13 A T 14: 75,560,694 (GRCm39) D428V unknown Het
Zcchc8 C G 5: 123,845,400 (GRCm39) G320A probably damaging Het
Znfx1 T C 2: 166,886,130 (GRCm39) E810G possibly damaging Het
Other mutations in Bbs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Bbs1 APN 19 4,943,038 (GRCm39) missense probably benign
IGL01110:Bbs1 APN 19 4,942,953 (GRCm39) missense possibly damaging 0.93
IGL01116:Bbs1 APN 19 4,952,867 (GRCm39) splice site probably benign
IGL01480:Bbs1 APN 19 4,944,421 (GRCm39) missense probably damaging 1.00
IGL01926:Bbs1 APN 19 4,952,891 (GRCm39) missense probably benign 0.01
IGL02893:Bbs1 APN 19 4,947,604 (GRCm39) nonsense probably null
IGL03136:Bbs1 APN 19 4,941,019 (GRCm39) missense probably benign 0.10
IGL03342:Bbs1 APN 19 4,947,621 (GRCm39) missense probably damaging 1.00
bookface UTSW 19 4,947,354 (GRCm39) missense possibly damaging 0.81
PIT4131001:Bbs1 UTSW 19 4,949,287 (GRCm39) missense possibly damaging 0.83
PIT4378001:Bbs1 UTSW 19 4,941,703 (GRCm39) missense probably benign 0.05
PIT4468001:Bbs1 UTSW 19 4,956,190 (GRCm39) missense probably benign 0.19
R0023:Bbs1 UTSW 19 4,956,042 (GRCm39) missense probably damaging 1.00
R0023:Bbs1 UTSW 19 4,956,042 (GRCm39) missense probably damaging 1.00
R1423:Bbs1 UTSW 19 4,944,291 (GRCm39) missense probably benign 0.08
R1760:Bbs1 UTSW 19 4,944,350 (GRCm39) missense probably benign 0.10
R1992:Bbs1 UTSW 19 4,941,736 (GRCm39) missense probably benign
R2145:Bbs1 UTSW 19 4,953,735 (GRCm39) missense possibly damaging 0.71
R4097:Bbs1 UTSW 19 4,947,345 (GRCm39) missense probably damaging 1.00
R5717:Bbs1 UTSW 19 4,947,354 (GRCm39) missense possibly damaging 0.81
R5947:Bbs1 UTSW 19 4,943,022 (GRCm39) missense probably benign 0.27
R6005:Bbs1 UTSW 19 4,953,823 (GRCm39) nonsense probably null
R6175:Bbs1 UTSW 19 4,940,749 (GRCm39) missense probably damaging 1.00
R6597:Bbs1 UTSW 19 4,949,334 (GRCm39) missense probably benign 0.01
R6734:Bbs1 UTSW 19 4,953,924 (GRCm39) missense probably benign 0.10
R6772:Bbs1 UTSW 19 4,956,618 (GRCm39) unclassified probably benign
R6805:Bbs1 UTSW 19 4,950,643 (GRCm39) missense probably damaging 1.00
R6838:Bbs1 UTSW 19 4,953,880 (GRCm39) missense possibly damaging 0.47
R7198:Bbs1 UTSW 19 4,945,043 (GRCm39) missense probably damaging 0.97
R7276:Bbs1 UTSW 19 4,947,738 (GRCm39) splice site probably null
R7685:Bbs1 UTSW 19 4,956,182 (GRCm39) missense probably benign 0.43
R7696:Bbs1 UTSW 19 4,941,017 (GRCm39) critical splice donor site probably null
R7933:Bbs1 UTSW 19 4,941,678 (GRCm39) splice site probably benign
R8446:Bbs1 UTSW 19 4,947,633 (GRCm39) missense probably benign 0.05
R8892:Bbs1 UTSW 19 4,942,954 (GRCm39) missense probably benign 0.05
R9181:Bbs1 UTSW 19 4,941,070 (GRCm39) missense possibly damaging 0.64
R9602:Bbs1 UTSW 19 4,941,083 (GRCm39) missense probably damaging 1.00
Y5404:Bbs1 UTSW 19 4,950,635 (GRCm39) missense possibly damaging 0.49
Y5407:Bbs1 UTSW 19 4,950,635 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- CATCTGATCCAATCGTACACAGGGC -3'
(R):5'- AGACTGGACTCTGATTTGGAGGACC -3'

Sequencing Primer
(F):5'- ACAGAATCTCATCTCCCTCACTC -3'
(R):5'- TTAGTGTAGAACTTCAGCACAGCC -3'
Posted On 2013-04-11