Incidental Mutation 'R8685:Bbs4'
ID 661990
Institutional Source Beutler Lab
Gene Symbol Bbs4
Ensembl Gene ENSMUSG00000025235
Gene Name Bardet-Biedl syndrome 4
Synonyms D9Ertd464e
MMRRC Submission 068540-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.583) question?
Stock # R8685 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 59229273-59260791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59247138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 121 (T121A)
Ref Sequence ENSEMBL: ENSMUSP00000026265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026265]
AlphaFold Q8C1Z7
Predicted Effect probably benign
Transcript: ENSMUST00000026265
AA Change: T121A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026265
Gene: ENSMUSG00000025235
AA Change: T121A

DomainStartEndE-ValueType
TPR 67 100 1.64e1 SMART
TPR 101 134 1.14e1 SMART
TPR 135 168 5.19e-3 SMART
TPR 169 201 3.67e-3 SMART
TPR 202 235 9.68e-3 SMART
TPR 270 303 1.26e-1 SMART
TPR 304 337 2.38e-2 SMART
TPR 338 371 1.64e1 SMART
low complexity region 490 504 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (44/44)
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 severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity and polyphagia after weaning, retinal degeneration, male infertility, absence of sperm cell flagella, renal abnormalities, impaired olfaction, and abnormal olfactory epithelium and neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,862,140 (GRCm39) Y50C probably damaging Het
Adgrl3 G T 5: 81,874,708 (GRCm39) D1002Y possibly damaging Het
Aoc3 G A 11: 101,223,042 (GRCm39) R426H probably benign Het
Atf6b A G 17: 34,869,320 (GRCm39) H179R probably benign Het
Brca1 T C 11: 101,380,672 (GRCm39) Y1787C probably benign Het
Cbx2 T A 11: 118,918,746 (GRCm39) S104T possibly damaging Het
Cdh10 T A 15: 18,899,851 (GRCm39) N59K possibly damaging Het
Clstn3 C T 6: 124,433,867 (GRCm39) R431H probably damaging Het
Cylc2 C T 4: 51,229,651 (GRCm39) T331M unknown Het
Dcpp3 T C 17: 24,138,096 (GRCm39) S85P probably benign Het
Dip2c A G 13: 9,687,161 (GRCm39) T1262A probably benign Het
Dlgap2 A G 8: 14,881,628 (GRCm39) E900G possibly damaging Het
Dtx4 C T 19: 12,446,995 (GRCm39) D566N probably benign Het
Elmo1 T A 13: 20,474,594 (GRCm39) N339K possibly damaging Het
Gm11596 C A 11: 99,683,816 (GRCm39) R101S unknown Het
Hk1 T C 10: 62,132,453 (GRCm39) probably benign Het
Hrnr T A 3: 93,230,205 (GRCm39) S148T unknown Het
Hyls1 A G 9: 35,472,724 (GRCm39) Y231H probably damaging Het
Il17rb T A 14: 29,726,297 (GRCm39) Y97F probably benign Het
Lamc1 G T 1: 153,109,288 (GRCm39) T1168K probably benign Het
Larp6 A T 9: 60,631,495 (GRCm39) D89V probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Myo18a A G 11: 77,745,520 (GRCm39) T1953A probably benign Het
Myo5c A G 9: 75,192,229 (GRCm39) D1127G possibly damaging Het
Myo7a T C 7: 97,746,334 (GRCm39) D266G probably benign Het
Naa35 T A 13: 59,734,036 (GRCm39) M22K probably benign Het
Niban2 T G 2: 32,809,101 (GRCm39) L229R probably benign Het
Or1f19 A T 16: 3,410,904 (GRCm39) I215F probably damaging Het
Pcdha8 T A 18: 37,127,003 (GRCm39) V495E probably damaging Het
Per2 T G 1: 91,378,402 (GRCm39) D49A possibly damaging Het
Plau G A 14: 20,889,627 (GRCm39) probably benign Het
Plekhg6 T A 6: 125,352,755 (GRCm39) I131L possibly damaging Het
Pnma8b T A 7: 16,679,965 (GRCm39) D316E unknown Het
Ppp4r3b T C 11: 29,159,436 (GRCm39) Y597H possibly damaging Het
Psmd2 T C 16: 20,474,161 (GRCm39) V288A probably benign Het
Slc6a15 T C 10: 103,245,556 (GRCm39) V513A possibly damaging Het
Smarcd3 G A 5: 24,800,988 (GRCm39) R140W probably damaging Het
Srrm4 T C 5: 116,585,380 (GRCm39) R440G unknown Het
Tpsg1 A T 17: 25,592,241 (GRCm39) Y105F possibly damaging Het
Trbv26 C A 6: 41,204,693 (GRCm39) A38E probably damaging Het
Ush2a T A 1: 188,198,401 (GRCm39) N1488K probably damaging Het
Vill A T 9: 118,895,795 (GRCm39) R502S probably benign Het
Zbed6 A T 1: 133,584,754 (GRCm39) L861* probably null Het
Other mutations in Bbs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Bbs4 APN 9 59,231,348 (GRCm39) missense probably benign 0.00
IGL01360:Bbs4 APN 9 59,247,131 (GRCm39) missense possibly damaging 0.89
IGL02005:Bbs4 APN 9 59,243,638 (GRCm39) splice site probably benign
IGL02150:Bbs4 APN 9 59,243,651 (GRCm39) missense probably benign
IGL02278:Bbs4 APN 9 59,248,451 (GRCm39) missense possibly damaging 0.64
IGL02402:Bbs4 APN 9 59,237,729 (GRCm39) missense probably benign 0.41
IGL02593:Bbs4 APN 9 59,235,880 (GRCm39) missense probably damaging 0.99
IGL03328:Bbs4 APN 9 59,251,401 (GRCm39) missense probably damaging 1.00
R0964:Bbs4 UTSW 9 59,230,259 (GRCm39) makesense probably null
R1298:Bbs4 UTSW 9 59,247,096 (GRCm39) missense probably damaging 1.00
R1944:Bbs4 UTSW 9 59,237,698 (GRCm39) splice site probably null
R2986:Bbs4 UTSW 9 59,248,478 (GRCm39) missense probably damaging 1.00
R4118:Bbs4 UTSW 9 59,237,708 (GRCm39) missense possibly damaging 0.90
R4701:Bbs4 UTSW 9 59,230,802 (GRCm39) missense probably benign
R6930:Bbs4 UTSW 9 59,230,764 (GRCm39) missense probably benign
R9522:Bbs4 UTSW 9 59,260,691 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TAAGAGCTCTAGCCAAGCCC -3'
(R):5'- TACTTGGAGCTGAAGGCATGAG -3'

Sequencing Primer
(F):5'- ATGCATTTCAGGTCAGCCAG -3'
(R):5'- GGACCGGTTCCAAGTTATCC -3'
Posted On 2021-03-08