Incidental Mutation 'R5841:Bbs12'
ID 450422
Institutional Source Beutler Lab
Gene Symbol Bbs12
Ensembl Gene ENSMUSG00000051444
Gene Name Bardet-Biedl syndrome 12
Synonyms LOC241950, LOC386537, LOC241950
MMRRC Submission 044061-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5841 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 37366703-37375602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 37373670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 39 (N39K)
Ref Sequence ENSEMBL: ENSMUSP00000103756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057975] [ENSMUST00000108121]
AlphaFold Q5SUD9
Predicted Effect probably benign
Transcript: ENSMUST00000057975
AA Change: N154K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: N154K

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
AA Change: N39K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: N39K

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 181 576 3.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138710
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (67/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A T 1: 75,150,994 (GRCm39) F565L possibly damaging Het
Abhd6 T A 14: 8,049,596 (GRCm38) V188D probably benign Het
Bend5 A G 4: 111,290,667 (GRCm39) Y221C probably damaging Het
Brd8 A G 18: 34,738,576 (GRCm39) S683P probably damaging Het
Caskin1 A G 17: 24,715,183 (GRCm39) D79G probably damaging Het
Cdyl T C 13: 36,056,544 (GRCm39) L509P probably damaging Het
Cenpf G T 1: 189,389,641 (GRCm39) T1397N possibly damaging Het
Ckap5 T A 2: 91,431,027 (GRCm39) M1479K probably benign Het
Cpsf2 T C 12: 101,951,497 (GRCm39) S145P probably damaging Het
Cyp4a12a A T 4: 115,183,899 (GRCm39) H235L probably benign Het
Cyp7b1 A T 3: 18,151,670 (GRCm39) F181Y probably damaging Het
Dennd5b T C 6: 148,946,253 (GRCm39) T453A probably benign Het
Dlgap3 A G 4: 127,089,193 (GRCm39) D263G probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dync2li1 G A 17: 84,940,990 (GRCm39) G69R probably damaging Het
Edc3 T C 9: 57,651,885 (GRCm39) V331A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ganc C T 2: 120,242,020 (GRCm39) T66I possibly damaging Het
Gm11595 C A 11: 99,663,143 (GRCm39) C179F unknown Het
Gnptg A G 17: 25,454,391 (GRCm39) S159P probably damaging Het
Gsdmc2 C T 15: 63,698,059 (GRCm39) V349I probably benign Het
Hydin T C 8: 111,259,846 (GRCm39) I2606T possibly damaging Het
Ino80d A G 1: 63,097,999 (GRCm39) S632P probably damaging Het
Kcnn2 G A 18: 45,692,463 (GRCm39) R13H probably benign Het
Klb A T 5: 65,536,667 (GRCm39) K666* probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kpna7 T C 5: 144,930,766 (GRCm39) I360V possibly damaging Het
Lmbrd2 A G 15: 9,182,657 (GRCm39) K576E possibly damaging Het
Lrp2 T A 2: 69,310,497 (GRCm39) Y2692F probably benign Het
Meis2 T A 2: 115,889,145 (GRCm39) E202D probably benign Het
Mgat4c A T 10: 102,224,826 (GRCm39) T347S probably damaging Het
Mmp12 G A 9: 7,347,501 (GRCm39) C26Y possibly damaging Het
Mrpl24 G A 3: 87,830,292 (GRCm39) R145Q probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Mycbpap T A 11: 94,396,436 (GRCm39) R135W probably damaging Het
Myo1g T A 11: 6,457,000 (GRCm39) Y942F probably benign Het
Myrf T C 19: 10,200,911 (GRCm39) K52R probably null Het
Ncf2 A T 1: 152,697,269 (GRCm39) silent Het
Nherf2 A T 17: 24,863,851 (GRCm39) M8K probably benign Het
Or51f1e T C 7: 102,747,161 (GRCm39) F71S probably damaging Het
Otx1 T C 11: 21,948,594 (GRCm39) probably benign Het
Pcnx1 T A 12: 81,965,429 (GRCm39) V532D possibly damaging Het
Pik3r5 T C 11: 68,383,096 (GRCm39) L305P probably damaging Het
Pira13 T A 7: 3,825,898 (GRCm39) R324* probably null Het
Polr3a A T 14: 24,500,766 (GRCm39) C1341S probably benign Het
Ppp1r3a T C 6: 14,718,983 (GRCm39) T644A probably benign Het
Pramel22 A G 4: 143,382,109 (GRCm39) S196P possibly damaging Het
Ptbp1 A G 10: 79,695,766 (GRCm39) D289G probably benign Het
Pwp2 A G 10: 78,007,952 (GRCm39) F868L probably benign Het
Rgs8 A G 1: 153,568,574 (GRCm39) E153G probably damaging Het
Rhbdf2 G A 11: 116,493,180 (GRCm39) probably benign Het
Sbf1 T C 15: 89,192,271 (GRCm39) H78R probably damaging Het
Sdr16c6 C T 4: 4,062,728 (GRCm39) A197T possibly damaging Het
Slc36a3 A T 11: 55,016,547 (GRCm39) Y349* probably null Het
Slc38a9 T C 13: 112,831,856 (GRCm39) L202P possibly damaging Het
Slc40a1 A T 1: 45,951,509 (GRCm39) M216K probably damaging Het
Srebf1 T A 11: 60,094,410 (GRCm39) Q568H possibly damaging Het
Srp54b A G 12: 55,299,614 (GRCm39) N315S probably benign Het
Strc A G 2: 121,196,358 (GRCm39) F1557L probably benign Het
Susd3 C A 13: 49,392,202 (GRCm39) probably benign Het
Usp54 G A 14: 20,600,351 (GRCm39) T1462I probably benign Het
Vmn1r11 T A 6: 57,114,787 (GRCm39) N150K probably damaging Het
Vwa8 C T 14: 79,231,958 (GRCm39) H606Y probably benign Het
Zmym6 A G 4: 126,994,463 (GRCm39) I206V possibly 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
IGL02110:Bbs12 APN 3 37,373,336 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GGCTGTTGAAGATTGTCTCCATC -3'
(R):5'- AATGCCTACTGTGAGCTAGTGC -3'

Sequencing Primer
(F):5'- GAAGATTGTCTCCATCTGGGG -3'
(R):5'- GCTGACTTTTTGCAGAAGGAATC -3'
Posted On 2016-12-20