Incidental Mutation 'R5248:Bbip1'
ID 398710
Institutional Source Beutler Lab
Gene Symbol Bbip1
Ensembl Gene ENSMUSG00000084957
Gene Name BBSome interacting protein 1
Synonyms 4930560M04Rik, Ncrna00081, 2610002B11Rik, 2310002J21Rik
MMRRC Submission 042819-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5248 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 53918292-53933058 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 53919786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025931] [ENSMUST00000074371] [ENSMUST00000135402] [ENSMUST00000165617]
AlphaFold J3QMK2
Predicted Effect probably benign
Transcript: ENSMUST00000025931
SMART Domains Protein: ENSMUSP00000025931
Gene: ENSMUSG00000024975

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
low complexity region 96 122 N/A INTRINSIC
MA3 164 275 3.68e-41 SMART
MA3 327 440 5.01e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074371
SMART Domains Protein: ENSMUSP00000073975
Gene: ENSMUSG00000024975

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
low complexity region 96 122 N/A INTRINSIC
MA3 164 275 3.68e-41 SMART
MA3 327 440 5.01e-43 SMART
Predicted Effect unknown
Transcript: ENSMUST00000135402
AA Change: T65M
SMART Domains Protein: ENSMUSP00000136324
Gene: ENSMUSG00000084957
AA Change: T65M

DomainStartEndE-ValueType
Pfam:BBIP10 1 64 2.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165617
SMART Domains Protein: ENSMUSP00000133135
Gene: ENSMUSG00000024975

DomainStartEndE-ValueType
low complexity region 66 82 N/A INTRINSIC
low complexity region 96 122 N/A INTRINSIC
MA3 164 275 3.68e-41 SMART
MA3 327 440 5.01e-43 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a null mutation display strain dependent postnatal lethality, obesity, hyperphagia, retinal degeneration and male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,109,437 (GRCm39) E344D probably benign Het
Acoxl G A 2: 127,917,855 (GRCm39) probably null Het
Adora1 A T 1: 134,131,224 (GRCm39) L149Q possibly damaging Het
Aebp1 C A 11: 5,818,501 (GRCm39) D115E possibly damaging Het
Ank3 A G 10: 69,822,938 (GRCm39) I1819V probably benign Het
Ankrd44 T C 1: 54,706,539 (GRCm39) H454R probably damaging Het
Ap4e1 C T 2: 126,906,842 (GRCm39) A1034V possibly damaging Het
B3galt2 T A 1: 143,522,849 (GRCm39) F328L probably benign Het
Brsk1 G A 7: 4,711,865 (GRCm39) E572K possibly damaging Het
Clca3a1 G T 3: 144,442,897 (GRCm39) P716T possibly damaging Het
Clpx T C 9: 65,228,132 (GRCm39) V380A probably damaging Het
Epha3 T A 16: 63,418,620 (GRCm39) Q608H probably damaging Het
Gprc6a G T 10: 51,491,089 (GRCm39) P712T probably damaging Het
Itpr1 C A 6: 108,519,023 (GRCm39) Q2720K probably damaging Het
Kdm5b A G 1: 134,548,735 (GRCm39) E1080G probably benign Het
Macf1 G A 4: 123,295,567 (GRCm39) R3163* probably null Het
Map4k5 T C 12: 69,888,755 (GRCm39) D292G probably benign Het
Mau2 A T 8: 70,481,373 (GRCm39) C217S probably benign Het
Mtf1 T C 4: 124,714,220 (GRCm39) F210L probably damaging Het
Mtif2 G A 11: 29,486,889 (GRCm39) V300M probably damaging Het
Mtmr2 T C 9: 13,694,905 (GRCm39) probably benign Het
Mybpc3 C A 2: 90,955,573 (GRCm39) probably null Het
Ncmap T C 4: 135,107,430 (GRCm39) probably null Het
Nek9 A G 12: 85,355,751 (GRCm39) F672S probably damaging Het
Nuak1 A T 10: 84,245,542 (GRCm39) I101N probably damaging Het
Or8s16 T C 15: 98,211,311 (GRCm39) N40S probably damaging Het
Pcdh7 T A 5: 58,286,515 (GRCm39) M1197K probably damaging Het
Pcdhb17 A C 18: 37,618,939 (GRCm39) Q243P probably benign Het
Pcf11 T G 7: 92,310,699 (GRCm39) K221Q probably damaging Het
Pkhd1 C T 1: 20,604,769 (GRCm39) R1182H probably benign Het
Ptprz1 C A 6: 23,001,900 (GRCm39) P1330Q probably benign Het
Rbm33 T G 5: 28,542,050 (GRCm39) probably null Het
Rhobtb1 A G 10: 69,084,615 (GRCm39) D2G probably damaging Het
Rngtt T A 4: 33,325,110 (GRCm39) C110* probably null Het
Setx T A 2: 29,038,430 (GRCm39) N1638K probably benign Het
Slc24a3 A T 2: 145,446,437 (GRCm39) M282L probably benign Het
Slc7a1 A T 5: 148,270,798 (GRCm39) V556D possibly damaging Het
Sppl2c A T 11: 104,077,407 (GRCm39) D69V possibly damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Tas2r120 A T 6: 132,634,110 (GRCm39) N64I probably damaging Het
Tcf25 G T 8: 124,100,678 (GRCm39) A23S probably damaging Het
Tigd2 A T 6: 59,188,138 (GRCm39) K335I probably damaging Het
Tlr6 A G 5: 65,112,647 (GRCm39) S87P probably benign Het
Tmem135 T A 7: 88,797,200 (GRCm39) Y352F probably damaging Het
Tob2 T C 15: 81,735,918 (GRCm39) Y17C probably damaging Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Vmn1r179 T C 7: 23,628,478 (GRCm39) V223A probably damaging Het
Zfp946 T C 17: 22,673,447 (GRCm39) V67A probably benign Het
Zswim4 G T 8: 84,946,561 (GRCm39) N698K probably benign Het
Zzz3 A G 3: 152,133,182 (GRCm39) Q80R probably damaging Het
Other mutations in Bbip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3741:Bbip1 UTSW 19 53,920,606 (GRCm39) start codon destroyed probably null 0.58
R4610:Bbip1 UTSW 19 53,920,606 (GRCm39) start codon destroyed probably null 0.58
R4982:Bbip1 UTSW 19 53,920,639 (GRCm39) splice site probably null
R6344:Bbip1 UTSW 19 53,919,912 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CATGAAACTTGCTTCAGAGTTTTGC -3'
(R):5'- AAATCTAAATCACCAGCTGTCTTCC -3'

Sequencing Primer
(F):5'- GCTTCAGAGTTTTGCTTTGAACAC -3'
(R):5'- TGCTGTGTAAACCCAAGC -3'
Posted On 2016-07-06