Incidental Mutation 'IGL01360:Bbs4'
ID 75724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs4
Ensembl Gene ENSMUSG00000025235
Gene Name Bardet-Biedl syndrome 4
Synonyms D9Ertd464e
Accession Numbers
Essential gene? Possibly essential (E-score: 0.607) question?
Stock # IGL01360
Quality Score
Status
Chromosome 9
Chromosomal Location 59229273-59260791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59247131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 123 (V123A)
Ref Sequence ENSEMBL: ENSMUSP00000026265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026265]
AlphaFold Q8C1Z7
Predicted Effect possibly damaging
Transcript: ENSMUST00000026265
AA Change: V123A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026265
Gene: ENSMUSG00000025235
AA Change: V123A

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: ENSMUST00000214225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214832
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,325,648 (GRCm39) I1517L possibly damaging Het
Akap12 A T 10: 4,307,537 (GRCm39) D1449V probably benign Het
Alg6 T A 4: 99,630,643 (GRCm39) Y161N probably benign Het
Arhgap45 A T 10: 79,864,482 (GRCm39) probably benign Het
Arhgap5 A T 12: 52,565,023 (GRCm39) I665F probably damaging Het
Carm1 C T 9: 21,498,598 (GRCm39) T480I probably benign Het
Catsperb G A 12: 101,591,513 (GRCm39) V1032M probably damaging Het
Cdc42bpb A C 12: 111,308,509 (GRCm39) I101S probably damaging Het
Copa C A 1: 171,915,155 (GRCm39) probably null Het
Cramp1 T C 17: 25,216,547 (GRCm39) I189V probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Egf A T 3: 129,533,669 (GRCm39) F57Y probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Gm14178 A G 11: 99,638,269 (GRCm39) S37P unknown Het
Gpbp1 A T 13: 111,563,075 (GRCm39) probably benign Het
Herc1 T C 9: 66,390,981 (GRCm39) S3980P probably benign Het
Itga6 T C 2: 71,617,670 (GRCm39) probably null Het
Itgb4 T C 11: 115,881,766 (GRCm39) S772P probably damaging Het
Kcng4 C A 8: 120,352,416 (GRCm39) G498V probably benign Het
Lrp1 T G 10: 127,381,689 (GRCm39) D3795A possibly damaging Het
Lrrk2 T A 15: 91,584,772 (GRCm39) probably null Het
Mettl25 A T 10: 105,659,058 (GRCm39) H408Q probably damaging Het
Mki67 T C 7: 135,307,505 (GRCm39) E457G probably damaging Het
Mpl G A 4: 118,312,858 (GRCm39) T158I possibly damaging Het
Mtg2 C T 2: 179,725,870 (GRCm39) T160I probably damaging Het
Mtif2 A G 11: 29,480,110 (GRCm39) I59V probably benign Het
Ncapg C A 5: 45,831,727 (GRCm39) S191* probably null Het
Nup214 T C 2: 31,928,190 (GRCm39) probably benign Het
Or9m1 T C 2: 87,733,871 (GRCm39) T50A probably benign Het
Phf3 T A 1: 30,847,809 (GRCm39) T1245S probably damaging Het
Piezo2 T C 18: 63,250,770 (GRCm39) D443G probably damaging Het
Pramel19 A T 4: 101,797,665 (GRCm39) D21V possibly damaging Het
Ptchd4 C A 17: 42,627,936 (GRCm39) H132Q probably benign Het
Pum1 T C 4: 130,455,481 (GRCm39) probably benign Het
Slc30a7 A T 3: 115,783,765 (GRCm39) V136E probably damaging Het
Slc5a10 A G 11: 61,605,962 (GRCm39) V116A probably damaging Het
Sos2 A T 12: 69,637,574 (GRCm39) S1046T probably benign Het
Svep1 A G 4: 58,116,554 (GRCm39) S899P possibly damaging Het
Tfr2 G A 5: 137,569,953 (GRCm39) V120I probably benign Het
Tnfrsf18 A T 4: 156,112,493 (GRCm39) R117* probably null Het
Trmt9b A G 8: 36,979,713 (GRCm39) I439V probably benign Het
Vmn1r77 T G 7: 11,775,315 (GRCm39) F30L probably benign Het
Vmn2r112 T C 17: 22,837,603 (GRCm39) M688T probably benign Het
Vmn2r93 T A 17: 18,525,510 (GRCm39) D389E possibly damaging Het
Zpld1 T G 16: 55,046,748 (GRCm39) N407T probably benign Het
Zranb3 C T 1: 127,887,622 (GRCm39) W935* probably null Het
Zyx G A 6: 42,327,378 (GRCm39) R59Q probably damaging Het
Other mutations in Bbs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Bbs4 APN 9 59,231,348 (GRCm39) missense probably benign 0.00
IGL02005:Bbs4 APN 9 59,243,638 (GRCm39) splice site probably benign
IGL02150:Bbs4 APN 9 59,243,651 (GRCm39) missense probably benign
IGL02278:Bbs4 APN 9 59,248,451 (GRCm39) missense possibly damaging 0.64
IGL02402:Bbs4 APN 9 59,237,729 (GRCm39) missense probably benign 0.41
IGL02593:Bbs4 APN 9 59,235,880 (GRCm39) missense probably damaging 0.99
IGL03328:Bbs4 APN 9 59,251,401 (GRCm39) missense probably damaging 1.00
R0964:Bbs4 UTSW 9 59,230,259 (GRCm39) makesense probably null
R1298:Bbs4 UTSW 9 59,247,096 (GRCm39) missense probably damaging 1.00
R1944:Bbs4 UTSW 9 59,237,698 (GRCm39) splice site probably null
R2986:Bbs4 UTSW 9 59,248,478 (GRCm39) missense probably damaging 1.00
R4118:Bbs4 UTSW 9 59,237,708 (GRCm39) missense possibly damaging 0.90
R4701:Bbs4 UTSW 9 59,230,802 (GRCm39) missense probably benign
R6930:Bbs4 UTSW 9 59,230,764 (GRCm39) missense probably benign
R8685:Bbs4 UTSW 9 59,247,138 (GRCm39) missense probably benign
R9522:Bbs4 UTSW 9 59,260,691 (GRCm39) critical splice donor site probably null
Posted On 2013-10-07