Incidental Mutation 'IGL01480:Bbs1'
ID88574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs1
Ensembl Gene ENSMUSG00000006464
Gene NameBardet-Biedl syndrome 1 (human)
SynonymsD19Ertd609e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.792) question?
Stock #IGL01480
Quality Score
Status
Chromosome19
Chromosomal Location4886898-4906627 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4894393 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 403 (K403E)
Ref Sequence ENSEMBL: ENSMUSP00000055321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053506]
Predicted Effect probably damaging
Transcript: ENSMUST00000053506
AA Change: K403E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: K403E

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:BBS1 23 276 2.7e-104 PFAM
low complexity region 293 305 N/A INTRINSIC
low complexity region 458 466 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T A 12: 88,456,865 C379* probably null Het
Ankrd10 A G 8: 11,635,592 V9A probably benign Het
Ankrd13a A T 5: 114,800,818 probably benign Het
Cd200r2 A G 16: 44,909,266 I95V probably null Het
Cyba T C 8: 122,424,945 E171G probably benign Het
Dnah2 T A 11: 69,458,371 M2480L possibly damaging Het
Fxyd7 A T 7: 31,047,374 Y20* probably null Het
Il22ra1 T C 4: 135,744,801 V216A probably benign Het
Mapk10 G A 5: 102,926,152 probably benign Het
Mgat5b C A 11: 116,978,452 T607K probably benign Het
Nov A G 15: 54,752,291 Y284C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr406 A T 11: 74,269,601 I71L possibly damaging Het
Olfr8 T C 10: 78,956,144 probably benign Het
Olfr975 G A 9: 39,949,988 A261V probably benign Het
Optn G A 2: 5,046,018 S184L probably benign Het
Plxna1 A G 6: 89,344,096 L462P possibly damaging Het
Prkca A G 11: 107,986,289 F339L possibly damaging Het
Prkca C T 11: 108,192,201 V73M probably damaging Het
Ptch2 T C 4: 117,114,082 V1062A probably damaging Het
Serpina11 T A 12: 103,982,851 K354* probably null Het
Sf1 T C 19: 6,372,022 probably benign Het
Stam2 A G 2: 52,716,439 S112P probably benign Het
Tlr5 G A 1: 182,973,499 E123K probably benign Het
Tpp1 T C 7: 105,749,053 E301G probably damaging Het
Vmn2r58 T A 7: 41,864,692 I176F probably benign Het
Other mutations in Bbs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Bbs1 APN 19 4893010 missense probably benign
IGL01110:Bbs1 APN 19 4892925 missense possibly damaging 0.93
IGL01116:Bbs1 APN 19 4902839 splice site probably benign
IGL01926:Bbs1 APN 19 4902863 missense probably benign 0.01
IGL02893:Bbs1 APN 19 4897576 nonsense probably null
IGL03136:Bbs1 APN 19 4890991 missense probably benign 0.10
IGL03342:Bbs1 APN 19 4897593 missense probably damaging 1.00
bookface UTSW 19 4897326 missense possibly damaging 0.81
PIT4131001:Bbs1 UTSW 19 4899259 missense possibly damaging 0.83
PIT4378001:Bbs1 UTSW 19 4891675 missense probably benign 0.05
PIT4468001:Bbs1 UTSW 19 4906162 missense probably benign 0.19
R0023:Bbs1 UTSW 19 4906014 missense probably damaging 1.00
R0023:Bbs1 UTSW 19 4906014 missense probably damaging 1.00
R0127:Bbs1 UTSW 19 4895029 missense probably benign 0.05
R1423:Bbs1 UTSW 19 4894263 missense probably benign 0.08
R1760:Bbs1 UTSW 19 4894322 missense probably benign 0.10
R1992:Bbs1 UTSW 19 4891708 missense probably benign
R2145:Bbs1 UTSW 19 4903707 missense possibly damaging 0.71
R4097:Bbs1 UTSW 19 4897317 missense probably damaging 1.00
R5717:Bbs1 UTSW 19 4897326 missense possibly damaging 0.81
R5947:Bbs1 UTSW 19 4892994 missense probably benign 0.27
R6005:Bbs1 UTSW 19 4903795 nonsense probably null
R6175:Bbs1 UTSW 19 4890721 missense probably damaging 1.00
R6597:Bbs1 UTSW 19 4899306 missense probably benign 0.01
R6734:Bbs1 UTSW 19 4903896 missense probably benign 0.10
R6772:Bbs1 UTSW 19 4906590 unclassified probably benign
R6805:Bbs1 UTSW 19 4900615 missense probably damaging 1.00
R6838:Bbs1 UTSW 19 4903852 missense possibly damaging 0.47
R7198:Bbs1 UTSW 19 4895015 missense probably damaging 0.97
R7276:Bbs1 UTSW 19 4897710 intron probably null
Y5404:Bbs1 UTSW 19 4900607 missense possibly damaging 0.49
Y5407:Bbs1 UTSW 19 4900607 missense possibly damaging 0.49
Posted On2013-11-18