Incidental Mutation 'IGL02418:Bbs5'
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ID292548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs5
Ensembl Gene ENSMUSG00000063145
Gene NameBardet-Biedl syndrome 5 (human)
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.434) question?
Stock #IGL02418
Quality Score
Status
Chromosome2
Chromosomal Location69647171-69667571 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to G at 69655505 bp
ZygosityHeterozygous
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]
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: 56,604,116 probably benign Het
Acsbg2 A G 17: 56,849,730 V436A probably benign Het
Afap1l1 T C 18: 61,752,577 D156G probably damaging Het
AI481877 A T 4: 59,049,075 probably benign Het
Arhgap21 G A 2: 20,880,900 R489C probably damaging Het
Arhgap26 G A 18: 39,357,567 probably benign Het
Ceacam5 A T 7: 17,759,434 Y794F possibly damaging Het
Ces3b T C 8: 105,085,647 V176A probably damaging Het
Cfi A G 3: 129,848,812 H105R probably benign Het
Chat C T 14: 32,446,949 V210I possibly damaging Het
Chd1l A G 3: 97,581,099 S534P probably benign Het
Cyb5rl T C 4: 107,070,985 L106P probably damaging Het
Cyp21a1 A G 17: 34,804,188 Het
Dnah12 T C 14: 26,773,722 C1436R probably damaging Het
Flg2 T A 3: 93,201,054 F130I probably benign Het
Fryl T A 5: 73,110,176 probably benign Het
Galnt10 T C 11: 57,781,168 V428A probably benign Het
Ganab A G 19: 8,911,069 D496G probably null Het
Gapvd1 T C 2: 34,730,518 T44A probably benign Het
Gm17093 T A 14: 44,520,728 Het
Gm5356 A T 8: 89,187,436 noncoding transcript Het
Gmppa G T 1: 75,439,020 G126C probably damaging Het
Il23r T C 6: 67,490,672 H37R possibly damaging Het
Itga11 A G 9: 62,744,632 I349V probably benign Het
Lrrc42 A T 4: 107,243,336 Y159* probably null Het
Mettl11b A T 1: 163,703,156 V238E probably damaging Het
Naa16 C A 14: 79,383,366 R57L probably damaging Het
Olfr967 A G 9: 39,750,491 Y35C probably damaging Het
Oxtr A T 6: 112,477,239 H21Q probably damaging Het
Paqr7 A G 4: 134,506,973 Y47C probably damaging Het
Paxbp1 A C 16: 91,034,112 C459G probably damaging Het
Pnp2 C T 14: 50,963,836 R222C possibly damaging Het
Rtl1 T C 12: 109,590,449 D1652G probably damaging Het
Spata4 C A 8: 54,609,943 N294K probably benign Het
Tcp11l2 T A 10: 84,613,606 Y478* probably null Het
Tcte1 T A 17: 45,541,202 S454T probably benign Het
Tex45 T A 8: 3,476,080 F78I probably damaging Het
Thsd4 C T 9: 60,428,315 V105I probably damaging Het
Tmem117 T A 15: 94,931,884 I200N probably benign Het
Tpgs1 G A 10: 79,669,455 V16M probably benign Het
Ttn G T 2: 76,967,103 T539K probably benign Het
Usp24 A G 4: 106,436,360 S2542G probably benign Het
Vmn2r44 A T 7: 8,377,865 L343H probably damaging Het
Zmat2 T A 18: 36,794,339 Y21N probably damaging Het
Zyx C T 6: 42,357,393 A517V probably damaging Het
Other mutations in Bbs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Bbs5 APN 2 69663080 missense probably benign
IGL01695:Bbs5 APN 2 69649090 missense probably damaging 1.00
IGL02232:Bbs5 APN 2 69655551 missense probably benign 0.37
IGL03280:Bbs5 APN 2 69666971
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
R6561:Bbs5 UTSW 2 69656956 missense probably damaging 1.00
R6936:Bbs5 UTSW 2 69654354 missense probably damaging 0.99
Posted On2015-04-16