Incidental Mutation 'IGL01695:Bbs5'
ID 104243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs5
Ensembl Gene ENSMUSG00000063145
Gene Name Bardet-Biedl syndrome 5 (human)
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01695
Quality Score
Status
Chromosome 2
Chromosomal Location 69647171-69667571 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69649090 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 43 (N43S)
Ref Sequence ENSEMBL: ENSMUSP00000119377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074963] [ENSMUST00000112286] [ENSMUST00000134659]
AlphaFold Q9CZQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000074963
AA Change: N43S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074494
Gene: ENSMUSG00000063145
AA Change: N43S

DomainStartEndE-ValueType
Pfam:DUF1448 7 339 6.2e-161 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112286
AA Change: N43S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107905
Gene: ENSMUSG00000063145
AA Change: N43S

DomainStartEndE-ValueType
Pfam:DUF1448 6 208 1.6e-100 PFAM
Pfam:DUF1448 206 319 9.9e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130061
Predicted Effect probably damaging
Transcript: ENSMUST00000134659
AA Change: N43S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119377
Gene: ENSMUSG00000063145
AA Change: N43S

DomainStartEndE-ValueType
Pfam:DUF1448 6 88 3.1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149276
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 encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,265,193 V177A probably benign Het
Ap3b2 T A 7: 81,476,939 probably benign Het
Arfgef3 T C 10: 18,603,419 T1483A probably benign Het
Arl5a A T 2: 52,412,105 I99N probably damaging Het
Bahcc1 G A 11: 120,276,609 G1279R probably benign Het
Cdh23 C T 10: 60,331,833 V1795M probably benign Het
Cep350 T C 1: 155,944,158 E353G probably damaging Het
Cps1 A T 1: 67,197,035 I976L probably benign Het
Ctdp1 A T 18: 80,449,626 S551R probably damaging Het
Cyp2b19 C T 7: 26,759,064 T68I probably damaging Het
Esr2 A G 12: 76,145,319 S312P probably damaging Het
Fam26e A G 10: 34,092,202 V285A possibly damaging Het
Gm11639 A T 11: 104,736,063 E864D probably damaging Het
Gm6408 A G 5: 146,482,129 probably benign Het
Krt9 A T 11: 100,191,437 probably null Het
Myh6 T C 14: 54,957,413 T662A probably benign Het
Ntn1 T C 11: 68,226,604 D473G probably benign Het
Olfr576 T C 7: 102,965,583 F161S probably damaging Het
Piezo1 A T 8: 122,495,509 C961S possibly damaging Het
Pik3c2a T C 7: 116,417,518 T335A possibly damaging Het
Plaa A T 4: 94,574,037 Y140* probably null Het
Plxnb2 T C 15: 89,157,214 I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 N555K probably damaging Het
Ptprn2 T A 12: 116,841,388 H174Q probably benign Het
Reln G A 5: 21,920,438 T2749M probably damaging Het
Scarf1 A G 11: 75,521,957 N384S probably damaging Het
Scrt1 T A 15: 76,518,950 H280L unknown Het
Serpina1f C A 12: 103,693,684 C113F probably damaging Het
Setdb2 A T 14: 59,402,293 probably benign Het
Strc A G 2: 121,375,298 L830P probably damaging Het
Tifab T C 13: 56,176,385 S82G probably benign Het
Tmem217 T A 17: 29,526,348 H136L probably damaging Het
Trio T C 15: 27,773,001 E715G probably damaging Het
Ttn A T 2: 76,944,016 M2182K probably damaging Het
Ube2d1 T C 10: 71,262,252 D12G probably damaging Het
Utrn T C 10: 12,745,342 D195G probably benign Het
Other mutations in Bbs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Bbs5 APN 2 69663080 missense probably benign
IGL02232:Bbs5 APN 2 69655551 missense probably benign 0.37
IGL02418:Bbs5 APN 2 69655505 makesense probably null
IGL03280:Bbs5 APN 2 69666971 splice site probably benign
R4801:Bbs5 UTSW 2 69655614 missense probably damaging 1.00
R4802:Bbs5 UTSW 2 69655614 missense probably damaging 1.00
R4974:Bbs5 UTSW 2 69647234 start gained probably benign
R6560:Bbs5 UTSW 2 69656956 missense probably damaging 1.00
R6936:Bbs5 UTSW 2 69654354 missense probably damaging 0.99
R7048:Bbs5 UTSW 2 69654361 missense probably benign 0.44
R9741:Bbs5 UTSW 2 69654351 missense probably benign 0.02
Z1177:Bbs5 UTSW 2 69665071 missense probably benign 0.19
Posted On 2014-01-21