Incidental Mutation 'R9181:Bbs1'
ID 697052
Institutional Source Beutler Lab
Gene Symbol Bbs1
Ensembl Gene ENSMUSG00000006464
Gene Name Bardet-Biedl syndrome 1
Synonyms D19Ertd609e
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.824) question?
Stock # R9181 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4936906-4956656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 4941070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 548 (L548R)
Ref Sequence ENSEMBL: ENSMUSP00000055321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053506]
AlphaFold Q3V3N7
Predicted Effect possibly damaging
Transcript: ENSMUST00000053506
AA Change: L548R

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: L548R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 G T 5: 105,121,962 (GRCm39) D138E probably benign Het
Acvr2a T A 2: 48,760,307 (GRCm39) I21K probably damaging Het
Adam30 C G 3: 98,070,194 (GRCm39) P676A probably benign Het
Ankrd28 A C 14: 31,470,627 (GRCm39) H145Q probably damaging Het
Ap3m2 A G 8: 23,289,774 (GRCm39) Y110H probably damaging Het
Apoc4 A G 7: 19,412,665 (GRCm39) S27P possibly damaging Het
Cfap99 A T 5: 34,471,602 (GRCm39) D346V probably damaging Het
Ckmt1 T A 2: 121,189,870 (GRCm39) probably benign Het
Col13a1 T C 10: 61,703,612 (GRCm39) K436E possibly damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Dbf4 A G 5: 8,462,206 (GRCm39) V105A possibly damaging Het
Disp2 T A 2: 118,617,393 (GRCm39) V129E probably benign Het
Dnah7b T C 1: 46,181,194 (GRCm39) V1027A probably damaging Het
Dst T A 1: 34,231,818 (GRCm39) I3137N probably benign Het
F5 A G 1: 164,019,895 (GRCm39) D790G probably benign Het
Fan1 A G 7: 64,016,400 (GRCm39) S575P probably damaging Het
Gemin5 C T 11: 58,021,035 (GRCm39) A1051T probably benign Het
Gsta4 A G 9: 78,105,597 (GRCm39) Y9C probably damaging Het
H2-M3 C A 17: 37,583,172 (GRCm39) A211E probably damaging Het
Ifna1 A T 4: 88,768,453 (GRCm39) M44L probably benign Het
Ildr2 A T 1: 166,122,283 (GRCm39) D242V probably damaging Het
Kif27 G T 13: 58,492,543 (GRCm39) Q199K probably damaging Het
Lmf1 T A 17: 25,804,718 (GRCm39) L132H probably damaging Het
Mbtd1 A G 11: 93,803,241 (GRCm39) N173S probably benign Het
Mettl25b A G 3: 87,835,392 (GRCm39) probably benign Het
Mgat4c A T 10: 102,225,123 (GRCm39) N446Y probably benign Het
Minar1 A G 9: 89,485,394 (GRCm39) M1T probably null Het
Mocs1 T A 17: 49,756,801 (GRCm39) M261K probably damaging Het
Nlrp10 A T 7: 108,524,108 (GRCm39) F457L probably damaging Het
Nlrp4e C T 7: 23,061,270 (GRCm39) R954* probably null Het
Or4s2 T C 2: 88,473,348 (GRCm39) M79T probably benign Het
Pigu T C 2: 155,141,109 (GRCm39) I261M probably damaging Het
Pkd1l3 T A 8: 110,375,318 (GRCm39) I1576N probably damaging Het
Plekhg6 A C 6: 125,355,854 (GRCm39) probably benign Het
Pmpca T C 2: 26,283,365 (GRCm39) L388P probably damaging Het
Polg A T 7: 79,104,421 (GRCm39) I818N probably damaging Het
Pramel46 A T 5: 95,418,414 (GRCm39) V194D probably benign Het
Radil A G 5: 142,480,722 (GRCm39) Y578H probably damaging Het
Retnlb A G 16: 48,639,084 (GRCm39) D95G probably damaging Het
Rufy2 A T 10: 62,836,166 (GRCm39) Y365F possibly damaging Het
Ssc5d A G 7: 4,945,814 (GRCm39) T949A possibly damaging Het
Svil C A 18: 5,090,833 (GRCm39) R1312S possibly damaging Het
Syne1 T C 10: 5,063,994 (GRCm39) T7142A probably damaging Het
Tert A T 13: 73,785,294 (GRCm39) probably benign Het
Tpbgl A T 7: 99,274,776 (GRCm39) D360E probably damaging Het
Traj13 G A 14: 54,443,248 (GRCm39) V17I unknown Het
Trim13 G A 14: 61,842,046 (GRCm39) R21Q possibly damaging Het
Wdr36 T C 18: 32,981,382 (GRCm39) V357A possibly damaging Het
Xdh G A 17: 74,232,006 (GRCm39) R235C probably damaging Het
Zfp971 T C 2: 177,674,736 (GRCm39) F112L probably damaging Het
Znfx1 C T 2: 166,879,738 (GRCm39) C1546Y probably damaging Het
Znfx1 T A 2: 166,880,137 (GRCm39) E1413V probably benign Het
Zscan4c A G 7: 10,743,741 (GRCm39) M447V probably benign Het
Zyx T A 6: 42,334,818 (GRCm39) D541E probably 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
R0127:Bbs1 UTSW 19 4,945,057 (GRCm39) missense probably benign 0.05
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
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'- TGTCTGCTGGCTCAAGTGAC -3'
(R):5'- TTAACCACAGACACGTGGG -3'

Sequencing Primer
(F):5'- TGGCTCAAGTGACAGGCTC -3'
(R):5'- CCCGAGGCATGCTCTTC -3'
Posted On 2022-02-07