Incidental Mutation 'IGL02402:Bbs4'
ID 291933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs4
Ensembl Gene ENSMUSG00000025235
Gene Name Bardet-Biedl syndrome 4
Synonyms D9Ertd464e
Accession Numbers
Essential gene? Possibly essential (E-score: 0.607) question?
Stock # IGL02402
Quality Score
Status
Chromosome 9
Chromosomal Location 59229273-59260791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59237729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 205 (L205H)
Ref Sequence ENSEMBL: ENSMUSP00000026265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026265]
AlphaFold Q8C1Z7
Predicted Effect probably benign
Transcript: ENSMUST00000026265
AA Change: L205H

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026265
Gene: ENSMUSG00000025235
AA Change: L205H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214832
Predicted Effect probably benign
Transcript: ENSMUST00000217367
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,707,543 (GRCm39) F568L probably benign Het
AW112010 T A 19: 11,025,741 (GRCm39) noncoding transcript Het
Bmal2 T C 6: 146,711,266 (GRCm39) V90A possibly damaging Het
C2cd2l T C 9: 44,227,878 (GRCm39) K121R probably benign Het
Car14 A G 3: 95,806,870 (GRCm39) V198A possibly damaging Het
Cd22 G T 7: 30,576,955 (GRCm39) H117Q possibly damaging Het
Celf1 T A 2: 90,829,068 (GRCm39) I45N probably damaging Het
Cluh T C 11: 74,547,997 (GRCm39) S103P probably damaging Het
Cyp39a1 T A 17: 44,002,613 (GRCm39) L276Q probably benign Het
Ddx27 T G 2: 166,857,245 (GRCm39) probably benign Het
Defb4 A T 8: 19,251,279 (GRCm39) I49F possibly damaging Het
Dock8 C A 19: 25,055,509 (GRCm39) T157K probably benign Het
Dpp6 T C 5: 27,839,541 (GRCm39) V352A probably damaging Het
Elmo2 C T 2: 165,139,312 (GRCm39) E412K probably damaging Het
Eme1 G A 11: 94,541,733 (GRCm39) P30S possibly damaging Het
Espnl G T 1: 91,272,535 (GRCm39) A632S probably benign Het
Gfod1 C A 13: 43,354,211 (GRCm39) A255S probably benign Het
Helz2 T A 2: 180,872,704 (GRCm39) K2432M probably damaging Het
Idua T C 5: 108,827,657 (GRCm39) L157P probably damaging Het
Ifi207 T A 1: 173,555,159 (GRCm39) D848V probably damaging Het
Jag1 C T 2: 136,927,858 (GRCm39) S851N possibly damaging Het
Kat6b T A 14: 21,681,415 (GRCm39) F571I probably damaging Het
Lrrc74b G A 16: 17,376,028 (GRCm39) probably benign Het
Mst1r A G 9: 107,794,026 (GRCm39) K1160E probably damaging Het
Muc19 C A 15: 91,778,192 (GRCm39) noncoding transcript Het
Nrg4 G A 9: 55,135,198 (GRCm39) probably benign Het
Ociad1 T C 5: 73,458,037 (GRCm39) I12T possibly damaging Het
Or1o3 A G 17: 37,574,111 (GRCm39) V148A possibly damaging Het
Pold3 A G 7: 99,749,618 (GRCm39) probably benign Het
Psmd5 T C 2: 34,747,784 (GRCm39) E291G probably damaging Het
Ptpn23 A G 9: 110,222,781 (GRCm39) V92A possibly damaging Het
Rab44 T A 17: 29,359,490 (GRCm39) H559Q probably benign Het
Rbm6 T C 9: 107,730,051 (GRCm39) D199G probably damaging Het
Rps18-ps3 C T 8: 107,989,754 (GRCm39) noncoding transcript Het
Septin10 T C 10: 59,006,758 (GRCm39) T93A probably benign Het
Slmap T C 14: 26,184,865 (GRCm39) T111A probably damaging Het
Spata25 C T 2: 164,670,377 (GRCm39) M1I probably null Het
Spink5 T A 18: 44,100,171 (GRCm39) C63S probably damaging Het
Sycp3 T C 10: 88,302,425 (GRCm39) probably benign Het
Tarbp1 A G 8: 127,177,567 (GRCm39) probably benign Het
Thbs2 A T 17: 14,891,716 (GRCm39) N940K probably benign Het
Tmem106b A T 6: 13,081,600 (GRCm39) Q169L possibly damaging Het
Trpm6 G T 19: 18,764,120 (GRCm39) C242F probably benign Het
Ush2a T A 1: 187,999,305 (GRCm39) M205K probably benign Het
Utp18 A C 11: 93,774,617 (GRCm39) probably benign 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
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
R8685:Bbs4 UTSW 9 59,247,138 (GRCm39) missense probably benign
R9522:Bbs4 UTSW 9 59,260,691 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16