Incidental Mutation 'IGL03280:Bbs5'
ID 415573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs5
Ensembl Gene ENSMUSG00000063145
Gene Name Bardet-Biedl syndrome 5
Synonyms 1700049I01Rik, 2700023J09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03280
Quality Score
Status
Chromosome 2
Chromosomal Location 69477515-69497915 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 69497315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074963] [ENSMUST00000100050] [ENSMUST00000112286] [ENSMUST00000134659]
AlphaFold Q9CZQ9
Predicted Effect probably benign
Transcript: ENSMUST00000074963
SMART Domains Protein: ENSMUSP00000074494
Gene: ENSMUSG00000063145

DomainStartEndE-ValueType
Pfam:DUF1448 7 339 6.2e-161 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100050
SMART Domains Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307

DomainStartEndE-ValueType
BTB 33 130 8.34e-27 SMART
BACK 135 237 9.67e-36 SMART
Kelch 346 398 6.71e-1 SMART
Kelch 399 447 1.56e-5 SMART
Kelch 448 495 2.43e-7 SMART
Kelch 496 542 5.81e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112286
SMART Domains Protein: ENSMUSP00000107905
Gene: ENSMUSG00000063145

DomainStartEndE-ValueType
Pfam:DUF1448 6 208 1.6e-100 PFAM
Pfam:DUF1448 206 319 9.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127806
SMART Domains Protein: ENSMUSP00000121691
Gene: ENSMUSG00000063145

DomainStartEndE-ValueType
Pfam:DUF1448 22 90 9.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134659
SMART Domains Protein: ENSMUSP00000119377
Gene: ENSMUSG00000063145

DomainStartEndE-ValueType
Pfam:DUF1448 6 88 3.1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143165
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
Asb4 T C 6: 5,423,416 (GRCm39) S188P probably benign Het
Cdh13 G T 8: 120,040,873 (GRCm39) G693W probably damaging Het
Cdh20 T A 1: 110,036,498 (GRCm39) Y559* probably null Het
Cemip G A 7: 83,636,538 (GRCm39) probably benign Het
Crem A G 18: 3,273,415 (GRCm39) probably benign Het
Crygf A G 1: 65,967,329 (GRCm39) Y151C probably damaging Het
Dcp1b T C 6: 119,157,019 (GRCm39) probably benign Het
Fanca A G 8: 124,043,198 (GRCm39) probably benign Het
Fkbp15 A C 4: 62,221,504 (GRCm39) probably benign Het
Gabrp C T 11: 33,502,616 (GRCm39) R416Q probably benign Het
Iho1 T C 9: 108,282,099 (GRCm39) S530G possibly damaging Het
Impg2 T A 16: 56,088,631 (GRCm39) Y1052* probably null Het
Isg15 T C 4: 156,284,319 (GRCm39) M70V probably benign Het
Krit1 T A 5: 3,861,248 (GRCm39) probably benign Het
Lrrn3 T C 12: 41,504,146 (GRCm39) D57G probably damaging Het
Macrod1 A G 19: 7,174,937 (GRCm39) E309G possibly damaging Het
Notch1 A T 2: 26,367,886 (GRCm39) probably benign Het
Nptx1 T C 11: 119,435,555 (GRCm39) T254A probably damaging Het
Or12e9 A T 2: 87,202,467 (GRCm39) D197V probably damaging Het
Pigm A G 1: 172,204,420 (GRCm39) Y52C probably damaging Het
Pramel27 A T 4: 143,578,489 (GRCm39) T250S possibly damaging Het
Rif1 A G 2: 52,002,611 (GRCm39) T2022A probably benign Het
Rint1 T A 5: 24,022,076 (GRCm39) L646Q probably damaging Het
Rpe65 A T 3: 159,309,978 (GRCm39) I84F probably damaging Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Scnn1a T C 6: 125,319,744 (GRCm39) probably benign Het
Selenop T C 15: 3,310,104 (GRCm39) probably benign Het
Siglecf T G 7: 43,005,354 (GRCm39) V438G probably benign Het
St8sia4 T A 1: 95,581,499 (GRCm39) probably benign Het
Tfeb T C 17: 48,096,862 (GRCm39) F43S probably benign Het
Tgm6 A G 2: 129,980,851 (GRCm39) Y216C probably damaging Het
Try10 T A 6: 41,331,154 (GRCm39) V10E probably benign Het
Ttn A T 2: 76,728,811 (GRCm39) C1234* probably null Het
Ugt2a3 G A 5: 87,484,439 (GRCm39) P195L probably damaging Het
Usp24 T G 4: 106,237,627 (GRCm39) I1095R probably damaging Het
Usp34 C T 11: 23,304,897 (GRCm39) H377Y probably damaging Het
Other mutations in Bbs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Bbs5 APN 2 69,493,424 (GRCm39) missense probably benign
IGL01695:Bbs5 APN 2 69,479,434 (GRCm39) missense probably damaging 1.00
IGL02232:Bbs5 APN 2 69,485,895 (GRCm39) missense probably benign 0.37
IGL02418:Bbs5 APN 2 69,485,849 (GRCm39) makesense probably null
R4801:Bbs5 UTSW 2 69,485,958 (GRCm39) missense probably damaging 1.00
R4802:Bbs5 UTSW 2 69,485,958 (GRCm39) missense probably damaging 1.00
R4974:Bbs5 UTSW 2 69,477,578 (GRCm39) start gained probably benign
R6560:Bbs5 UTSW 2 69,487,300 (GRCm39) missense probably damaging 1.00
R6936:Bbs5 UTSW 2 69,484,698 (GRCm39) missense probably damaging 0.99
R7048:Bbs5 UTSW 2 69,484,705 (GRCm39) missense probably benign 0.44
R9741:Bbs5 UTSW 2 69,484,695 (GRCm39) missense probably benign 0.02
Z1177:Bbs5 UTSW 2 69,495,415 (GRCm39) missense probably benign 0.19
Posted On 2016-08-02