Incidental Mutation 'IGL02402:Bbs4'
ID291933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs4
Ensembl Gene ENSMUSG00000025235
Gene NameBardet-Biedl syndrome 4 (human)
SynonymsD9Ertd464e
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.512) question?
Stock #IGL02402
Quality Score
Status
Chromosome9
Chromosomal Location59321990-59353508 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59330446 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 205 (L205H)
Ref Sequence ENSEMBL: ENSMUSP00000026265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026265]
Predicted Effect probably benign
Transcript: ENSMUST00000026265
AA Change: L205H

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026265
Gene: ENSMUSG00000025235
AA Change: L205H

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: ENSMUST00000214832
Predicted Effect probably benign
Transcript: ENSMUST00000217367
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,559,424 F568L probably benign Het
Arntl2 T C 6: 146,809,768 V90A possibly damaging Het
AW112010 T A 19: 11,048,377 noncoding transcript Het
C2cd2l T C 9: 44,316,581 K121R probably benign Het
Car14 A G 3: 95,899,558 V198A possibly damaging Het
Cd22 G T 7: 30,877,530 H117Q possibly damaging Het
Celf1 T A 2: 90,998,723 I45N probably damaging Het
Cluh T C 11: 74,657,171 S103P probably damaging Het
Cyp39a1 T A 17: 43,691,722 L276Q probably benign Het
Ddx27 T G 2: 167,015,325 probably benign Het
Defb4 A T 8: 19,201,263 I49F possibly damaging Het
Dock8 C A 19: 25,078,145 T157K probably benign Het
Dpp6 T C 5: 27,634,543 V352A probably damaging Het
Elmo2 C T 2: 165,297,392 E412K probably damaging Het
Eme1 G A 11: 94,650,907 P30S possibly damaging Het
Espnl G T 1: 91,344,813 A632S probably benign Het
Gfod1 C A 13: 43,200,735 A255S probably benign Het
Helz2 T A 2: 181,230,911 K2432M probably damaging Het
Idua T C 5: 108,679,791 L157P probably damaging Het
Ifi207 T A 1: 173,727,593 D848V probably damaging Het
Jag1 C T 2: 137,085,938 S851N possibly damaging Het
Kat6b T A 14: 21,631,347 F571I probably damaging Het
Lrrc74b G A 16: 17,558,164 probably benign Het
Mst1r A G 9: 107,916,827 K1160E probably damaging Het
Muc19 C A 15: 91,893,998 noncoding transcript Het
Nrg4 G A 9: 55,227,914 probably benign Het
Ociad1 T C 5: 73,300,694 I12T possibly damaging Het
Olfr98 A G 17: 37,263,220 V148A possibly damaging Het
Pold3 A G 7: 100,100,411 probably benign Het
Psmd5 T C 2: 34,857,772 E291G probably damaging Het
Ptpn23 A G 9: 110,393,713 V92A possibly damaging Het
Rab44 T A 17: 29,140,516 H559Q probably benign Het
Rbm6 T C 9: 107,852,852 D199G probably damaging Het
Rps18-ps3 C T 8: 107,263,122 noncoding transcript Het
Sept10 T C 10: 59,170,936 T93A probably benign Het
Slmap T C 14: 26,463,710 T111A probably damaging Het
Spata25 C T 2: 164,828,457 M1I probably null Het
Spink5 T A 18: 43,967,104 C63S probably damaging Het
Sycp3 T C 10: 88,466,563 probably benign Het
Tarbp1 A G 8: 126,450,828 probably benign Het
Thbs2 A T 17: 14,671,454 N940K probably benign Het
Tmem106b A T 6: 13,081,601 Q169L possibly damaging Het
Trpm6 G T 19: 18,786,756 C242F probably benign Het
Ush2a T A 1: 188,267,108 M205K probably benign Het
Utp18 A C 11: 93,883,791 probably benign Het
Other mutations in Bbs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Bbs4 APN 9 59324065 missense probably benign 0.00
IGL01360:Bbs4 APN 9 59339848 missense possibly damaging 0.89
IGL02005:Bbs4 APN 9 59336355 splice site probably benign
IGL02150:Bbs4 APN 9 59336368 missense probably benign
IGL02278:Bbs4 APN 9 59341168 missense possibly damaging 0.64
IGL02593:Bbs4 APN 9 59328597 missense probably damaging 0.99
IGL03328:Bbs4 APN 9 59344118 missense probably damaging 1.00
R0964:Bbs4 UTSW 9 59322976 makesense probably null
R1298:Bbs4 UTSW 9 59339813 missense probably damaging 1.00
R1944:Bbs4 UTSW 9 59330415 splice site probably null
R2986:Bbs4 UTSW 9 59341195 missense probably damaging 1.00
R4118:Bbs4 UTSW 9 59330425 missense possibly damaging 0.90
R4701:Bbs4 UTSW 9 59323519 missense probably benign
R6930:Bbs4 UTSW 9 59323481 missense probably benign
Posted On2015-04-16