Incidental Mutation 'IGL02593:Bbs4'
ID299792
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 essential (E-score: 0.512) question?
Stock #IGL02593
Quality Score
Status
Chromosome9
Chromosomal Location59321990-59353508 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 59328597 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 232 (D232N)
Ref Sequence ENSEMBL: ENSMUSP00000026265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026265]
Predicted Effect probably damaging
Transcript: ENSMUST00000026265
AA Change: D232N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026265
Gene: ENSMUSG00000025235
AA Change: D232N

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 noncoding transcript
Transcript: ENSMUST00000215994
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg G T 16: 22,892,328 probably null Het
Cdh23 A T 10: 60,465,995 probably benign Het
Cntn5 T C 9: 9,833,499 N554S probably damaging Het
Fn1 T C 1: 71,602,432 I1652V probably benign Het
Gm17677 T A 9: 35,742,142 C81S possibly damaging Het
Gm364 G A X: 57,421,960 D245N probably benign Het
Golga4 T C 9: 118,555,566 probably benign Het
Idh3a T A 9: 54,596,193 probably benign Het
Jph2 T C 2: 163,397,246 Y94C probably damaging Het
Lnx2 A G 5: 147,033,015 S238P possibly damaging Het
Loxhd1 A G 18: 77,410,539 I56V possibly damaging Het
Myo9b A C 8: 71,290,773 E159D probably damaging Het
Nkiras1 A G 14: 18,278,475 N63S possibly damaging Het
Nnmt A G 9: 48,604,803 probably null Het
Olfr535 G A 7: 140,493,331 R231H probably benign Het
P2ry10 T C X: 107,102,696 I79T possibly damaging Het
Padi2 A G 4: 140,949,842 H647R probably damaging Het
Ptchd4 A G 17: 42,317,146 D166G probably benign Het
Scml2 T C X: 161,187,309 V125A probably benign Het
Senp2 A G 16: 22,044,271 D556G probably damaging Het
Serpina3a G T 12: 104,118,432 V29L probably benign Het
Sgcz A T 8: 37,523,278 I307N probably damaging Het
Slc25a13 C T 6: 6,042,265 V638I probably benign Het
Snx7 G A 3: 117,839,960 L84F probably damaging Het
Ticrr A G 7: 79,695,466 D1693G probably damaging Het
Vmn2r7 C T 3: 64,693,022 C485Y probably damaging Het
Vmn2r-ps129 C T 17: 22,992,796 noncoding transcript Het
Zfyve9 A G 4: 108,682,223 V951A possibly 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
IGL02278:Bbs4 APN 9 59341168 missense possibly damaging 0.64
IGL02402:Bbs4 APN 9 59330446 missense probably benign 0.41
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