Incidental Mutation 'IGL02278:Bbs4'
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ID289773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs4
Ensembl Gene ENSMUSG00000025235
Gene NameBardet-Biedl syndrome 4 (human)
SynonymsD9Ertd464e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.483) question?
Stock #IGL02278
Quality Score
Status
Chromosome9
Chromosomal Location59321990-59353508 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59341168 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 84 (Q84L)
Ref Sequence ENSEMBL: ENSMUSP00000026265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026265]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026265
AA Change: Q84L

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026265
Gene: ENSMUSG00000025235
AA Change: Q84L

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: ENSMUST00000214225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214832
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cemip A T 7: 83,937,438 W1303R probably damaging Het
Edrf1 T C 7: 133,657,000 S702P probably benign Het
Muc4 C A 16: 32,754,529 H1468N probably benign Het
Nav1 G A 1: 135,463,714 probably benign Het
Pramel5 A G 4: 144,271,551 L374P probably damaging Het
Slc2a2 T C 3: 28,717,455 I178T probably damaging Het
Tsnaxip1 A G 8: 105,827,781 probably benign Het
Zfp850 T A 7: 28,008,397 Q7L probably damaging Het
Other mutations in Bbs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Bbs4 APN 9 59324065 missense probably benign 0.00
IGL01360:Bbs4 APN 9 59339848 missense possibly damaging 0.89
IGL02005:Bbs4 APN 9 59336355 splice site probably benign
IGL02150:Bbs4 APN 9 59336368 missense probably benign
IGL02402:Bbs4 APN 9 59330446 missense probably benign 0.41
IGL02593:Bbs4 APN 9 59328597 missense probably damaging 0.99
IGL03328:Bbs4 APN 9 59344118 missense probably damaging 1.00
R0964:Bbs4 UTSW 9 59322976 makesense probably null
R1298:Bbs4 UTSW 9 59339813 missense probably damaging 1.00
R1944:Bbs4 UTSW 9 59330415 splice site probably null
R2986:Bbs4 UTSW 9 59341195 missense probably damaging 1.00
R4118:Bbs4 UTSW 9 59330425 missense possibly damaging 0.90
R4701:Bbs4 UTSW 9 59323519 missense probably benign
R6930:Bbs4 UTSW 9 59323481 missense probably benign
Posted On2015-04-16