Incidental Mutation 'R4472:Bbs12'
ID 330395
Institutional Source Beutler Lab
Gene Symbol Bbs12
Ensembl Gene ENSMUSG00000051444
Gene Name Bardet-Biedl syndrome 12
Synonyms LOC241950, LOC386537, LOC241950
MMRRC Submission 041729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R4472 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 37366703-37375602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37373369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 54 (V54A)
Ref Sequence ENSEMBL: ENSMUSP00000052179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057975] [ENSMUST00000108121]
AlphaFold Q5SUD9
Predicted Effect possibly damaging
Transcript: ENSMUST00000057975
AA Change: V54A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: V54A

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
Meta Mutation Damage Score 0.0904 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (66/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik A T 9: 39,961,994 (GRCm39) noncoding transcript Het
Accsl T A 2: 93,694,336 (GRCm39) probably null Het
Accsl G T 2: 93,694,337 (GRCm39) probably null Het
Adcy1 G A 11: 7,080,369 (GRCm39) V371M probably damaging Het
Adgrb2 C T 4: 129,902,146 (GRCm39) A509V probably benign Het
Adgrg6 T A 10: 14,312,525 (GRCm39) Q754L probably damaging Het
Agap2 T C 10: 126,927,082 (GRCm39) I1008T probably damaging Het
Aph1c T G 9: 66,735,051 (GRCm39) H150P probably damaging Het
Atcay T C 10: 81,048,361 (GRCm39) R242G possibly damaging Het
Atg2a G A 19: 6,308,985 (GRCm39) V1724M probably damaging Het
Card14 A G 11: 119,224,784 (GRCm39) M604V possibly damaging Het
Cd28 A T 1: 60,802,393 (GRCm39) H104L probably benign Het
Cntn5 A T 9: 10,048,776 (GRCm39) D262E probably damaging Het
Col6a3 A G 1: 90,749,736 (GRCm39) V366A probably benign Het
Csnk1d G A 11: 120,855,800 (GRCm39) probably benign Het
Dcaf11 T A 14: 55,803,063 (GRCm39) probably benign Het
Dpy19l4 G A 4: 11,304,053 (GRCm39) T119M possibly damaging Het
Eif3f T C 7: 108,540,153 (GRCm39) V316A possibly damaging Het
Fbrsl1 G A 5: 110,526,932 (GRCm39) probably benign Het
Fbxo10 C T 4: 45,043,693 (GRCm39) R710H probably damaging Het
Fbxw9 G A 8: 85,786,829 (GRCm39) D25N probably damaging Het
Gm14295 C T 2: 176,501,386 (GRCm39) T292I possibly damaging Het
Gm4884 C G 7: 40,692,687 (GRCm39) Q219E probably benign Het
Gpr150 A G 13: 76,204,273 (GRCm39) V224A probably benign Het
Hps1 A T 19: 42,750,935 (GRCm39) I355N probably damaging Het
Lmbr1l A G 15: 98,804,178 (GRCm39) S374P probably benign Het
Macf1 A T 4: 123,289,782 (GRCm39) N5458K probably damaging Het
Man1b1 C G 2: 25,222,867 (GRCm39) probably benign Het
Morc3 A G 16: 93,671,645 (GRCm39) probably null Het
Mrgpra4 T C 7: 47,631,539 (GRCm39) T21A probably benign Het
Myo1a G T 10: 127,546,327 (GRCm39) V277L probably benign Het
Nkain4 C G 2: 180,596,415 (GRCm39) M1I probably null Het
Nktr T C 9: 121,577,962 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Oas2 A T 5: 120,879,220 (GRCm39) D373E possibly damaging Het
Or8g37 T A 9: 39,731,870 (GRCm39) *312R probably null Het
Oser1 T A 2: 163,257,500 (GRCm39) E11V probably null Het
Oser1 C T 2: 163,257,501 (GRCm39) E11K probably damaging Het
Pacsin3 A G 2: 91,093,288 (GRCm39) probably null Het
Pcdh20 T C 14: 88,706,434 (GRCm39) S289G probably benign Het
Phlpp1 A G 1: 106,314,176 (GRCm39) D1183G probably damaging Het
Pign T C 1: 105,575,945 (GRCm39) K232E probably benign Het
Polk A G 13: 96,630,413 (GRCm39) S383P probably damaging Het
Prom2 C A 2: 127,382,111 (GRCm39) R101L probably benign Het
Rest T C 5: 77,429,027 (GRCm39) V482A probably benign Het
Rexo1 A T 10: 80,378,492 (GRCm39) S476T probably damaging Het
Rnf31 T A 14: 55,840,777 (GRCm39) Y1015N probably damaging Het
Spata3 T C 1: 85,954,152 (GRCm39) Y305H probably benign Het
Sv2a G A 3: 96,099,810 (GRCm39) V587M probably benign Het
Synj1 A G 16: 90,766,069 (GRCm39) probably null Het
Syt17 A G 7: 118,036,040 (GRCm39) probably null Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tcaf1 A C 6: 42,656,248 (GRCm39) S243A probably benign Het
Tmem9 A G 1: 135,955,234 (GRCm39) T123A probably benign Het
Trav4-4-dv10 T C 14: 53,921,187 (GRCm39) probably benign Het
Trbv15 G A 6: 41,118,493 (GRCm39) R83Q probably damaging Het
Trim27 A G 13: 21,374,056 (GRCm39) I268V probably benign Het
Tubgcp6 T A 15: 88,987,857 (GRCm39) S1031C probably damaging Het
Vmn1r89 C A 7: 12,953,799 (GRCm39) H110Q probably benign Het
Vmn2r30 T C 7: 7,320,091 (GRCm39) N545S probably damaging Het
Wls G A 3: 159,603,020 (GRCm39) M144I probably benign Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zeb2 A T 2: 44,913,023 (GRCm39) L56Q 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
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
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
Predicted Primers PCR Primer
(F):5'- CTTCACTGTATGTAGTGCTTGTCAATC -3'
(R):5'- AGCCTTCTGACATTACCGACAC -3'

Sequencing Primer
(F):5'- GTGCTTGTCAATCATAAATCACTCTG -3'
(R):5'- CACTATTACTGTAGTGGGAATCCC -3'
Posted On 2015-07-21