Incidental Mutation 'IGL02418:Bbs5'
ID 292548
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 # IGL02418
Quality Score
Status
Chromosome 2
Chromosomal Location 69477515-69497915 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to G at 69485849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glycine at position 89 (*89G)
Ref Sequence ENSEMBL: ENSMUSP00000119377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074963] [ENSMUST00000112286] [ENSMUST00000134659]
AlphaFold Q9CZQ9
Predicted Effect probably null
Transcript: ENSMUST00000074963
AA Change: Y131*
SMART Domains Protein: ENSMUSP00000074494
Gene: ENSMUSG00000063145
AA Change: Y131*

DomainStartEndE-ValueType
Pfam:DUF1448 7 339 6.2e-161 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112286
AA Change: Y131*
SMART Domains Protein: ENSMUSP00000107905
Gene: ENSMUSG00000063145
AA Change: Y131*

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 noncoding transcript
Transcript: ENSMUST00000130061
Predicted Effect probably null
Transcript: ENSMUST00000134659
AA Change: *89G
SMART Domains Protein: ENSMUSP00000119377
Gene: ENSMUSG00000063145
AA Change: *89G

DomainStartEndE-ValueType
Pfam:DUF1448 6 88 3.1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144240
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,424,479 (GRCm39) probably benign Het
Acsbg2 A G 17: 57,156,730 (GRCm39) V436A probably benign Het
Afap1l1 T C 18: 61,885,648 (GRCm39) D156G probably damaging Het
Arhgap21 G A 2: 20,885,711 (GRCm39) R489C probably damaging Het
Arhgap26 G A 18: 39,490,620 (GRCm39) probably benign Het
Ceacam5 A T 7: 17,493,359 (GRCm39) Y794F possibly damaging Het
Ces3b T C 8: 105,812,279 (GRCm39) V176A probably damaging Het
Cfi A G 3: 129,642,461 (GRCm39) H105R probably benign Het
Chat C T 14: 32,168,906 (GRCm39) V210I possibly damaging Het
Chd1l A G 3: 97,488,415 (GRCm39) S534P probably benign Het
Cyb5rl T C 4: 106,928,182 (GRCm39) L106P probably damaging Het
Cyp21a1 A G 17: 35,023,162 (GRCm39) probably benign Het
Dnah12 T C 14: 26,495,679 (GRCm39) C1436R probably damaging Het
Flg2 T A 3: 93,108,361 (GRCm39) F130I probably benign Het
Fryl T A 5: 73,267,519 (GRCm39) probably benign Het
Galnt10 T C 11: 57,671,994 (GRCm39) V428A probably benign Het
Ganab A G 19: 8,888,433 (GRCm39) D496G probably null Het
Gapvd1 T C 2: 34,620,530 (GRCm39) T44A probably benign Het
Gm17093 T A 14: 44,758,185 (GRCm39) M122K unknown Het
Gm5356 A T 8: 89,914,064 (GRCm39) noncoding transcript Het
Gmppa G T 1: 75,415,664 (GRCm39) G126C probably damaging Het
Il23r T C 6: 67,467,656 (GRCm39) H37R possibly damaging Het
Itga11 A G 9: 62,651,914 (GRCm39) I349V probably benign Het
Lrrc42 A T 4: 107,100,533 (GRCm39) Y159* probably null Het
Naa16 C A 14: 79,620,806 (GRCm39) R57L probably damaging Het
Ntmt2 A T 1: 163,530,725 (GRCm39) V238E probably damaging Het
Or8g4 A G 9: 39,661,787 (GRCm39) Y35C probably damaging Het
Oxtr A T 6: 112,454,200 (GRCm39) H21Q probably damaging Het
Paqr7 A G 4: 134,234,284 (GRCm39) Y47C probably damaging Het
Paxbp1 A C 16: 90,831,000 (GRCm39) C459G probably damaging Het
Pnp2 C T 14: 51,201,293 (GRCm39) R222C possibly damaging Het
Rtl1 T C 12: 109,556,883 (GRCm39) D1652G probably damaging Het
Saxo5 T A 8: 3,526,080 (GRCm39) F78I probably damaging Het
Shoc1 A T 4: 59,049,075 (GRCm39) probably benign Het
Spata4 C A 8: 55,062,978 (GRCm39) N294K probably benign Het
Tcp11l2 T A 10: 84,449,470 (GRCm39) Y478* probably null Het
Tcte1 T A 17: 45,852,128 (GRCm39) S454T probably benign Het
Thsd4 C T 9: 60,335,598 (GRCm39) V105I probably damaging Het
Tmem117 T A 15: 94,829,765 (GRCm39) I200N probably benign Het
Tpgs1 G A 10: 79,505,289 (GRCm39) V16M probably benign Het
Ttn G T 2: 76,797,447 (GRCm39) T539K probably benign Het
Usp24 A G 4: 106,293,557 (GRCm39) S2542G probably benign Het
Vmn2r44 A T 7: 8,380,864 (GRCm39) L343H probably damaging Het
Zmat2 T A 18: 36,927,392 (GRCm39) Y21N probably damaging Het
Zyx C T 6: 42,334,327 (GRCm39) A517V 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
IGL03280:Bbs5 APN 2 69,497,315 (GRCm39) splice site probably benign
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 2015-04-16