Incidental Mutation 'R5872:Bbs12'
ID 455222
Institutional Source Beutler Lab
Gene Symbol Bbs12
Ensembl Gene ENSMUSG00000051444
Gene Name Bardet-Biedl syndrome 12
Synonyms LOC241950, LOC386537, LOC241950
MMRRC Submission 044079-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5872 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 37366703-37375602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37374598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 349 (C349S)
Ref Sequence ENSEMBL: ENSMUSP00000103756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057975] [ENSMUST00000108121]
AlphaFold Q5SUD9
Predicted Effect possibly damaging
Transcript: ENSMUST00000057975
AA Change: C464S

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: C464S

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 22 153 5.6e-8 PFAM
Pfam:Cpn60_TCP1 299 568 4.1e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108121
AA Change: C349S

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: C349S

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 181 576 3.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138710
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.6%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,382,309 (GRCm39) S1219P possibly damaging Het
A2ml1 A G 6: 128,538,489 (GRCm39) Y644H probably damaging Het
Abca9 T G 11: 110,007,902 (GRCm39) R1232S possibly damaging Het
Acsf2 C T 11: 94,463,975 (GRCm39) V70M probably benign Het
Ampd1 A G 3: 102,986,446 (GRCm39) I42V probably benign Het
Arhgap10 A G 8: 78,071,267 (GRCm39) probably null Het
Atp1a4 A T 1: 172,071,975 (GRCm39) L432Q probably damaging Het
Bnc2 A G 4: 84,211,007 (GRCm39) V479A possibly damaging Het
Cald1 A T 6: 34,748,043 (GRCm39) K761* probably null Het
Cd177 C T 7: 24,451,688 (GRCm39) G443R probably null Het
Cdc42bpb T C 12: 111,292,410 (GRCm39) D375G probably damaging Het
Chsy3 T C 18: 59,309,268 (GRCm39) Y174H probably damaging Het
Cmya5 T C 13: 93,233,943 (GRCm39) M382V probably benign Het
Col1a2 G A 6: 4,531,926 (GRCm39) S782N unknown Het
Crtac1 C T 19: 42,297,629 (GRCm39) probably null Het
Csmd3 T A 15: 47,445,923 (GRCm39) D3683V probably damaging Het
Ctrc A G 4: 141,572,354 (GRCm39) L62P probably damaging Het
Cyp3a57 A T 5: 145,307,867 (GRCm39) K208* probably null Het
Dnaaf2 A T 12: 69,244,122 (GRCm39) L313Q probably damaging Het
Dtl A G 1: 191,278,680 (GRCm39) L394P probably benign Het
Ehhadh T C 16: 21,585,305 (GRCm39) E192G probably benign Het
Fads2 T C 19: 10,059,997 (GRCm39) I226V probably benign Het
Fat2 T C 11: 55,161,208 (GRCm39) E3174G probably damaging Het
Galnt14 C T 17: 73,881,826 (GRCm39) R91Q probably damaging Het
Hdhd5 G T 6: 120,487,252 (GRCm39) D368E probably benign Het
Hk3 T A 13: 55,158,617 (GRCm39) I528F probably damaging Het
Il10ra A C 9: 45,166,951 (GRCm39) S533R possibly damaging Het
Itpr3 G T 17: 27,305,950 (GRCm39) K169N probably benign Het
Lrrc17 A G 5: 21,780,264 (GRCm39) T413A probably benign Het
Mcm2 C T 6: 88,861,053 (GRCm39) D882N probably benign Het
Met T C 6: 17,562,197 (GRCm39) V1186A probably damaging Het
Msh5 C T 17: 35,248,628 (GRCm39) probably null Het
Nav3 T C 10: 109,600,648 (GRCm39) I1326M probably damaging Het
Nek10 A G 14: 14,850,896 (GRCm38) I314V probably benign Het
Or10g1 A C 14: 52,648,225 (GRCm39) F35V probably damaging Het
Or8b53 T A 9: 38,667,412 (GRCm39) Y143N probably benign Het
Pim1 A G 17: 29,712,720 (GRCm39) E211G probably damaging Het
Plaat1 T A 16: 29,039,189 (GRCm39) Y90N probably benign Het
Ppp1r12b A T 1: 134,704,144 (GRCm39) D903E probably benign Het
Ptpn14 T C 1: 189,583,229 (GRCm39) L692P probably benign Het
Ptprt A G 2: 161,977,138 (GRCm39) C387R probably damaging Het
Qrfprl A G 6: 65,418,369 (GRCm39) probably benign Het
Scarb1 A G 5: 125,381,341 (GRCm39) Y68H possibly damaging Het
Shisa6 T A 11: 66,108,800 (GRCm39) D359V probably damaging Het
Shprh T C 10: 11,063,817 (GRCm39) S1297P probably damaging Het
Sik1 T C 17: 32,069,125 (GRCm39) D250G probably damaging Het
Slamf7 A G 1: 171,466,635 (GRCm39) L190S probably damaging Het
Slc22a3 G A 17: 12,652,355 (GRCm39) P423L probably damaging Het
Slc35e2 A T 4: 155,697,137 (GRCm39) E217V probably damaging Het
Spocd1 A T 4: 129,850,254 (GRCm39) N760I probably damaging Het
Tas2r136 G T 6: 132,754,294 (GRCm39) P278T possibly damaging Het
Tchhl1 A T 3: 93,377,836 (GRCm39) Q180L probably benign Het
Tmem151b T A 17: 45,858,010 (GRCm39) T79S probably benign Het
Tomm70a T A 16: 56,965,105 (GRCm39) C430S probably benign Het
Trbv16 T A 6: 41,128,936 (GRCm39) L40Q probably damaging Het
Trmt1l T G 1: 151,316,594 (GRCm39) I32S probably damaging Het
Ubr4 A G 4: 139,152,641 (GRCm39) T2011A probably damaging Het
Urb1 C T 16: 90,569,652 (GRCm39) W1358* probably null Het
Usp31 T G 7: 121,248,698 (GRCm39) H915P probably benign Het
Vmn2r10 A T 5: 109,151,377 (GRCm39) M79K possibly damaging Het
Vmn2r14 A G 5: 109,369,222 (GRCm39) I117T probably benign Het
Vps13b A G 15: 35,869,497 (GRCm39) H2667R possibly damaging Het
Vwa5b1 G A 4: 138,305,962 (GRCm39) T912M possibly damaging Het
Zfp709 G A 8: 72,643,363 (GRCm39) C264Y probably benign Het
Zkscan5 A G 5: 145,156,898 (GRCm39) I467V probably benign Het
Zxdc A T 6: 90,347,281 (GRCm39) D214V 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
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
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'- TCAATGTGACCCTCATCTTGG -3'
(R):5'- TGCTCAGCAAGAATTTGAAGATGG -3'

Sequencing Primer
(F):5'- CAGTGTGTTGCAGGCATT -3'
(R):5'- AAGACCTTCTCTTCTTTTAGGGCATG -3'
Posted On 2017-02-10