Incidental Mutation 'R5954:Bbs12'
ID 471037
Institutional Source Beutler Lab
Gene Symbol Bbs12
Ensembl Gene ENSMUSG00000051444
Gene Name Bardet-Biedl syndrome 12
Synonyms LOC241950, LOC386537, LOC241950
MMRRC Submission 044143-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5954 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 37366703-37375602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37374151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 200 (L200F)
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: L315F

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: L315F

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: L200F

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: L200F

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 181 576 3.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138710
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,616,390 (GRCm39) I944T probably benign Het
Ank2 T C 3: 126,791,510 (GRCm39) T823A probably benign Het
Ankrd42 C G 7: 92,273,175 (GRCm39) probably null Het
Anks4b T A 7: 119,781,396 (GRCm39) N142K possibly damaging Het
Armc5 A G 7: 127,841,444 (GRCm39) E484G probably benign Het
B4galnt3 A G 6: 120,202,149 (GRCm39) F118L possibly damaging Het
Cacna1h A G 17: 25,602,175 (GRCm39) F1555S probably damaging Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Chd6 A C 2: 160,807,747 (GRCm39) H1822Q probably benign Het
Chdh C T 14: 29,753,138 (GRCm39) R16C possibly damaging Het
Cnga1 T C 5: 72,762,221 (GRCm39) D431G probably damaging Het
Dock8 G A 19: 25,148,983 (GRCm39) R1487Q probably damaging Het
Farp1 T A 14: 121,460,079 (GRCm39) V116D probably damaging Het
Fbxo24 T A 5: 137,617,943 (GRCm39) T274S probably damaging Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Gatad2b T C 3: 90,258,748 (GRCm39) L257P probably damaging Het
Gm20402 C T 3: 52,176,311 (GRCm39) P30L probably damaging Het
Gm7932 C T 6: 48,839,793 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,371,767 (GRCm39) D590E unknown Het
Herc1 T G 9: 66,358,774 (GRCm39) probably benign Het
Hsd3b2 T A 3: 98,618,875 (GRCm39) I357F probably benign Het
Ipo5 A G 14: 121,157,396 (GRCm39) Y78C probably damaging Het
Itga8 C A 2: 12,137,297 (GRCm39) A23S probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kat2a A G 11: 100,599,724 (GRCm39) V451A possibly damaging Het
Knstrn A G 2: 118,661,436 (GRCm39) probably benign Het
Med23 A G 10: 24,746,381 (GRCm39) probably benign Het
Mefv A G 16: 3,533,579 (GRCm39) Y231H probably benign Het
Or4d10 A T 19: 12,051,447 (GRCm39) I183N possibly damaging Het
Or4e5 T A 14: 52,727,624 (GRCm39) I266F probably benign Het
Or5p69 T A 7: 107,966,808 (GRCm39) I37N probably damaging Het
Or8g21 A G 9: 38,906,711 (GRCm39) S7P probably damaging Het
Pak5 G T 2: 135,958,383 (GRCm39) T235K probably benign Het
Plppr3 G T 10: 79,701,960 (GRCm39) P294Q probably benign Het
Prepl A G 17: 85,372,077 (GRCm39) F725L probably benign Het
Ptchd3 A T 11: 121,727,413 (GRCm39) probably benign Het
Rprd2 T C 3: 95,672,175 (GRCm39) E1076G probably damaging Het
Sarm1 C A 11: 78,381,428 (GRCm39) E352* probably null Het
Sccpdh T A 1: 179,508,153 (GRCm39) H14Q probably benign Het
Senp7 A G 16: 55,990,234 (GRCm39) I661V probably benign Het
Septin3 T C 15: 82,174,628 (GRCm39) F140L probably damaging Het
Spag6 G T 2: 18,715,417 (GRCm39) Q65H probably damaging Het
Tnni3 C T 7: 4,522,539 (GRCm39) R137H probably damaging Het
Trank1 A G 9: 111,194,201 (GRCm39) S742G probably benign Het
Ucn3 T C 13: 3,991,413 (GRCm39) I80V probably benign Het
Ulk2 A T 11: 61,694,622 (GRCm39) probably benign Het
Uncx C T 5: 139,533,384 (GRCm39) S483L probably benign Het
Vps39 A G 2: 120,155,143 (GRCm39) V550A probably damaging Het
Zfp697 C A 3: 98,335,909 (GRCm39) T558K probably damaging Het
Zfp790 G T 7: 29,528,929 (GRCm39) G538V 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
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
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'- AATAGCCACTGGATAAGCCGAC -3'
(R):5'- ACTTATTAAATCCCAGGTGTCGG -3'

Sequencing Primer
(F):5'- CTGGATAAGCCGACATGATGGATTTC -3'
(R):5'- TAAATCCCAGGTGTCGGTAACTC -3'
Posted On 2017-03-31