Incidental Mutation 'IGL02110:Bbs12'
ID 280081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs12
Ensembl Gene ENSMUSG00000051444
Gene Name Bardet-Biedl syndrome 12
Synonyms LOC241950, LOC386537, LOC241950
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL02110
Quality Score
Status
Chromosome 3
Chromosomal Location 37366703-37375602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37373336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 43 (E43G)
Ref Sequence ENSEMBL: ENSMUSP00000052179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057975] [ENSMUST00000108121]
AlphaFold Q5SUD9
Predicted Effect probably benign
Transcript: ENSMUST00000057975
AA Change: E43G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: E43G

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 22 153 5.6e-8 PFAM
Pfam:Cpn60_TCP1 299 568 4.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108121
SMART Domains Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 181 576 3.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138710
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit enhanced adipogenesis, late onset obesity, increased susceptibility to diet-induced obesity, increased insulin sensitivity, increased glucose usage, and decreased inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e A G 15: 77,598,548 (GRCm39) probably null Het
Arhgef40 C T 14: 52,226,862 (GRCm39) T302M probably damaging Het
Bap1 T C 14: 30,979,371 (GRCm39) L458P probably damaging Het
Bod1l C T 5: 41,973,796 (GRCm39) C2506Y probably damaging Het
Ccdc170 A G 10: 4,491,885 (GRCm39) probably null Het
Chpf2 A G 5: 24,796,710 (GRCm39) E552G probably damaging Het
Comp T A 8: 70,826,289 (GRCm39) I23N probably benign Het
Cxcl2 T C 5: 91,052,211 (GRCm39) probably benign Het
Dctn5 T C 7: 121,734,374 (GRCm39) F73L probably damaging Het
Ddx5 T C 11: 106,675,835 (GRCm39) E285G probably damaging Het
Ddx60 T G 8: 62,470,281 (GRCm39) probably null Het
Dhcr24 T A 4: 106,430,998 (GRCm39) I229N probably damaging Het
Dnah7a G A 1: 53,450,739 (GRCm39) T3897I possibly damaging Het
Dvl2 T A 11: 69,898,842 (GRCm39) probably benign Het
Dytn A T 1: 63,686,632 (GRCm39) V346E possibly damaging Het
Eepd1 T C 9: 25,514,698 (GRCm39) probably benign Het
Fbln2 G T 6: 91,211,084 (GRCm39) A343S probably benign Het
Flywch1 T C 17: 23,982,066 (GRCm39) probably null Het
Gckr A T 5: 31,456,082 (GRCm39) T81S possibly damaging Het
Gm6139 T A 5: 129,700,656 (GRCm39) noncoding transcript Het
Gpcpd1 A T 2: 132,372,530 (GRCm39) C657* probably null Het
Greb1l A G 18: 10,515,271 (GRCm39) I89V probably damaging Het
Hdac4 G A 1: 91,912,127 (GRCm39) P421S probably benign Het
Iqca1l A G 5: 24,753,082 (GRCm39) probably benign Het
Klhl1 A G 14: 96,374,039 (GRCm39) L669P probably benign Het
Mios A G 6: 8,215,565 (GRCm39) R254G probably damaging Het
Mmp19 A G 10: 128,630,727 (GRCm39) N116D probably damaging Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Nadsyn1 T C 7: 143,367,164 (GRCm39) Y141C probably damaging Het
Nlrp4d T C 7: 10,116,491 (GRCm39) noncoding transcript Het
Nob1 A T 8: 108,142,804 (GRCm39) *160R probably null Het
Or10ac1 A G 6: 42,515,113 (GRCm39) V281A possibly damaging Het
Or1f12 T A 13: 21,722,112 (GRCm39) Q21L possibly damaging Het
Or1j17 A G 2: 36,578,697 (GRCm39) T228A probably benign Het
Or4k45 C T 2: 111,395,252 (GRCm39) C179Y probably damaging Het
Or51s1 C T 7: 102,558,402 (GRCm39) V215I probably benign Het
Or56b1b C A 7: 108,164,286 (GRCm39) A239S probably damaging Het
Phc1 T C 6: 122,298,994 (GRCm39) D658G possibly damaging Het
Pitx2 T G 3: 129,012,466 (GRCm39) S299A probably damaging Het
Plekha7 C A 7: 115,753,863 (GRCm39) probably null Het
Ptgfr A G 3: 151,541,097 (GRCm39) V137A probably damaging Het
Ptprb T C 10: 116,167,108 (GRCm39) probably benign Het
Rasl2-9 C T 7: 5,128,346 (GRCm39) A195T probably benign Het
Ripor3 T A 2: 167,836,626 (GRCm39) Q121L possibly damaging Het
Sgsh G T 11: 119,243,632 (GRCm39) A30E probably damaging Het
Sis G T 3: 72,836,032 (GRCm39) C852* probably null Het
Slc17a9 A G 2: 180,374,369 (GRCm39) probably benign Het
Slco6b1 A T 1: 96,915,607 (GRCm39) noncoding transcript Het
Smarca2 A G 19: 26,650,140 (GRCm39) Y704C possibly damaging Het
Spata6 A T 4: 111,642,003 (GRCm39) H291L possibly damaging Het
Stra8 T C 6: 34,907,289 (GRCm39) probably benign Het
Taldo1 T C 7: 140,982,647 (GRCm39) probably benign Het
Tmco6 T C 18: 36,868,219 (GRCm39) probably benign Het
Tmpo A C 10: 90,998,727 (GRCm39) S353R probably damaging Het
Tpr A T 1: 150,311,493 (GRCm39) Q1757L probably damaging Het
Ubn1 T C 16: 4,899,754 (GRCm39) probably benign Het
Vmn2r83 T C 10: 79,327,534 (GRCm39) V714A possibly damaging Het
Zfp407 G T 18: 84,577,165 (GRCm39) A1316D probably benign Het
Zzef1 T A 11: 72,803,938 (GRCm39) I2560N probably damaging Het
Other mutations in Bbs12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Bbs12 APN 3 37,374,346 (GRCm39) missense probably damaging 1.00
IGL00698:Bbs12 APN 3 37,374,943 (GRCm39) missense probably benign 0.00
IGL02105:Bbs12 APN 3 37,374,296 (GRCm39) missense probably damaging 1.00
IGL03036:Bbs12 APN 3 37,373,343 (GRCm39) missense possibly damaging 0.86
haribo UTSW 3 37,374,529 (GRCm39) missense probably damaging 1.00
R0310:Bbs12 UTSW 3 37,375,194 (GRCm39) missense probably damaging 1.00
R1888:Bbs12 UTSW 3 37,374,712 (GRCm39) missense probably damaging 1.00
R1888:Bbs12 UTSW 3 37,374,712 (GRCm39) missense probably damaging 1.00
R2061:Bbs12 UTSW 3 37,373,215 (GRCm39) missense probably damaging 0.97
R2152:Bbs12 UTSW 3 37,375,309 (GRCm39) nonsense probably null
R4455:Bbs12 UTSW 3 37,374,461 (GRCm39) missense probably damaging 1.00
R4472:Bbs12 UTSW 3 37,373,369 (GRCm39) missense possibly damaging 0.95
R4762:Bbs12 UTSW 3 37,374,529 (GRCm39) missense probably damaging 1.00
R5208:Bbs12 UTSW 3 37,374,422 (GRCm39) missense probably benign 0.07
R5841:Bbs12 UTSW 3 37,373,670 (GRCm39) missense probably benign 0.05
R5864:Bbs12 UTSW 3 37,373,639 (GRCm39) missense probably damaging 1.00
R5872:Bbs12 UTSW 3 37,374,598 (GRCm39) missense possibly damaging 0.83
R5941:Bbs12 UTSW 3 37,374,197 (GRCm39) missense probably damaging 0.98
R5954:Bbs12 UTSW 3 37,374,151 (GRCm39) missense possibly damaging 0.95
R6125:Bbs12 UTSW 3 37,374,700 (GRCm39) missense probably benign 0.01
R6562:Bbs12 UTSW 3 37,374,389 (GRCm39) missense probably damaging 1.00
R6886:Bbs12 UTSW 3 37,373,390 (GRCm39) missense probably damaging 1.00
R7454:Bbs12 UTSW 3 37,375,102 (GRCm39) missense possibly damaging 0.95
R9130:Bbs12 UTSW 3 37,373,205 (GRCm39) intron probably benign
R9190:Bbs12 UTSW 3 37,375,223 (GRCm39) missense probably damaging 1.00
R9288:Bbs12 UTSW 3 37,374,712 (GRCm39) missense probably damaging 1.00
R9404:Bbs12 UTSW 3 37,373,557 (GRCm39) missense probably damaging 0.99
R9753:Bbs12 UTSW 3 37,373,680 (GRCm39) missense possibly damaging 0.79
R9792:Bbs12 UTSW 3 37,374,224 (GRCm39) missense possibly damaging 0.59
R9795:Bbs12 UTSW 3 37,374,224 (GRCm39) missense possibly damaging 0.59
Posted On 2015-04-16