Incidental Mutation 'R7454:Bbs12'
ID 577967
Institutional Source Beutler Lab
Gene Symbol Bbs12
Ensembl Gene ENSMUSG00000051444
Gene Name Bardet-Biedl syndrome 12
Synonyms LOC241950, LOC386537, LOC241950
MMRRC Submission 045528-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7454 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 37366703-37375602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37375102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 517 (S517P)
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: S632P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: S632P

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: S517P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: S517P

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 181 576 3.4e-13 PFAM
Meta Mutation Damage Score 0.1718 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (90/90)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510002D24Rik A G 16: 18,655,601 (GRCm39) E57G possibly damaging Het
4932414N04Rik C A 2: 68,518,648 (GRCm39) T159K unknown Het
Adamts10 T A 17: 33,763,979 (GRCm39) F616L possibly damaging Het
Adtrp G A 13: 41,981,791 (GRCm39) S26L unknown Het
Alpk3 A C 7: 80,728,310 (GRCm39) E480A probably benign Het
Anks6 T C 4: 47,038,919 (GRCm39) T529A unknown Het
Arl4d A G 11: 101,557,486 (GRCm39) H4R probably benign Het
Ash1l A G 3: 88,891,172 (GRCm39) H1017R probably benign Het
Bcl11b C A 12: 107,882,467 (GRCm39) R616L possibly damaging Het
Bean1 G A 8: 104,937,658 (GRCm39) G79D probably damaging Het
Bicra C G 7: 15,706,059 (GRCm39) G1461R probably benign Het
Bptf T C 11: 106,935,466 (GRCm39) T124A probably benign Het
Btnl4 A T 17: 34,691,348 (GRCm39) V312E probably benign Het
Ccdc7a A G 8: 129,670,997 (GRCm39) M503T unknown Het
Celf5 T C 10: 81,318,357 (GRCm39) E28G probably damaging Het
Cilp2 G A 8: 70,336,040 (GRCm39) L350F probably damaging Het
Clec4a2 T C 6: 123,119,411 (GRCm39) I245T probably damaging Het
Ctnnal1 A T 4: 56,844,544 (GRCm39) V140D probably damaging Het
Dennd4a A C 9: 64,759,852 (GRCm39) H319P probably damaging Het
Dlgap3 G T 4: 127,128,852 (GRCm39) L857F probably null Het
Dnah6 T A 6: 73,189,475 (GRCm39) T58S probably damaging Het
Dnah7a T A 1: 53,557,923 (GRCm39) M2164L probably benign Het
Dspp T A 5: 104,323,476 (GRCm39) H206Q probably benign Het
Dzip1l G A 9: 99,541,727 (GRCm39) V443M possibly damaging Het
Erc2 A G 14: 28,024,948 (GRCm39) H939R possibly damaging Het
Fam149a G T 8: 45,801,583 (GRCm39) H513N probably benign Het
Fam171a2 T C 11: 102,330,543 (GRCm39) T280A possibly damaging Het
Fkbp5 A C 17: 28,634,999 (GRCm39) V170G probably damaging Het
Fnbp4 ACCACCTCCACCTCCACCTCC ACCACCTCCACCTCCACCTCCACCTCC 2: 90,608,159 (GRCm39) probably benign Het
Fzd2 T C 11: 102,495,955 (GRCm39) F133S probably damaging Het
Galm A G 17: 80,445,550 (GRCm39) N100S possibly damaging Het
Gbp2b T A 3: 142,303,920 (GRCm39) I5N possibly damaging Het
Gga2 T C 7: 121,601,369 (GRCm39) R245G probably benign Het
Gm10053 A G 19: 24,853,264 (GRCm39) T50A probably benign Het
Gm1110 T C 9: 26,831,945 (GRCm39) T69A probably benign Het
Heatr5a T C 12: 52,008,326 (GRCm39) S6G probably benign Het
Hmcn1 A G 1: 150,439,355 (GRCm39) S5610P probably damaging Het
Hmgb4 A G 4: 128,154,199 (GRCm39) V123A probably damaging Het
Itgal C A 7: 126,926,936 (GRCm39) Q943K probably benign Het
Jakmip1 C A 5: 37,332,498 (GRCm39) D1059E probably damaging Het
Jazf1 T C 6: 52,870,929 (GRCm39) probably null Het
Kat6a A G 8: 23,425,788 (GRCm39) E1111G possibly damaging Het
Kdm4b C A 17: 56,696,639 (GRCm39) P452T probably benign Het
Krit1 T C 5: 3,862,474 (GRCm39) Y210H probably damaging Het
Krtap6-2 A T 16: 89,216,800 (GRCm39) Y56N unknown Het
Lig1 A T 7: 13,022,647 (GRCm39) D158V probably damaging Het
Lmo1 A T 7: 108,739,873 (GRCm39) L94Q probably benign Het
Lrrc30 A T 17: 67,939,238 (GRCm39) L114H probably damaging Het
Ltn1 T C 16: 87,194,700 (GRCm39) I1400V probably benign Het
Mark3 T C 12: 111,570,961 (GRCm39) I87T probably damaging Het
Mfrp G T 9: 44,016,480 (GRCm39) V392F possibly damaging Het
Mrgprg A G 7: 143,318,872 (GRCm39) L80P probably damaging Het
Ndufaf3 A T 9: 108,444,125 (GRCm39) M1K probably null Het
Nme7 T A 1: 164,208,217 (GRCm39) L295* probably null Het
Noct G T 3: 51,157,151 (GRCm39) C163F probably damaging Het
Or11h4b T A 14: 50,918,281 (GRCm39) Q270L possibly damaging Het
Or13a26 A T 7: 140,284,547 (GRCm39) I128F probably damaging Het
Or4b1 T A 2: 89,979,763 (GRCm39) I196F possibly damaging Het
Or5ak22 T A 2: 85,229,955 (GRCm39) K307N probably damaging Het
Or6c203 T A 10: 129,010,324 (GRCm39) T189S probably damaging Het
Or8g2 A G 9: 39,821,200 (GRCm39) I34V probably benign Het
Patz1 C T 11: 3,248,297 (GRCm39) probably benign Het
Per3 A G 4: 151,097,185 (GRCm39) L780P probably benign Het
Pira1 T G 7: 3,738,509 (GRCm39) E622D probably benign Het
Pla2g4a T C 1: 149,748,441 (GRCm39) M256V possibly damaging Het
Pnliprp1 A G 19: 58,729,532 (GRCm39) K395R probably benign Het
Poc5 G T 13: 96,537,340 (GRCm39) G242V possibly damaging Het
Ppfia4 A G 1: 134,251,873 (GRCm39) S434P possibly damaging Het
Prss42 A G 9: 110,627,897 (GRCm39) N110S probably benign Het
Ralgapb T A 2: 158,274,822 (GRCm39) I241N possibly damaging Het
Rbak A C 5: 143,159,528 (GRCm39) Y508* probably null Het
S1pr2 G T 9: 20,878,845 (GRCm39) R328S possibly damaging Het
Sap130 T C 18: 31,783,565 (GRCm39) M214T probably benign Het
Slc46a1 T A 11: 78,357,337 (GRCm39) V130E probably damaging Het
Smc4 A T 3: 68,925,457 (GRCm39) H343L probably benign Het
Tarbp1 C A 8: 127,184,416 (GRCm39) R500L probably benign Het
Tasor2 A G 13: 3,635,332 (GRCm39) S492P probably benign Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Tpp2 T C 1: 43,993,819 (GRCm39) S235P probably benign Het
Trbc2 G T 6: 41,523,763 (GRCm39) R33M Het
Trim3 C T 7: 105,268,765 (GRCm39) R63Q probably damaging Het
Ttc28 T C 5: 111,433,350 (GRCm39) V2128A probably benign Het
Ttn C T 2: 76,556,162 (GRCm39) R30281H probably damaging Het
Ttn T A 2: 76,774,483 (GRCm39) Q2187L unknown Het
Ttyh3 T C 5: 140,615,180 (GRCm39) S403G possibly damaging Het
Vmn2r112 A T 17: 22,822,288 (GRCm39) D322V probably benign Het
Wdr38 C T 2: 38,888,352 (GRCm39) probably benign Het
Xrn1 T A 9: 95,930,411 (GRCm39) S1543R probably benign Het
Zbtb8b G A 4: 129,326,562 (GRCm39) T201I 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
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
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'- TAGAGGAAACCATGCTTGTTTAGG -3'
(R):5'- ATCTCTGTGTGTACAAGTCCAG -3'

Sequencing Primer
(F):5'- CATGCTTGTTTAGGATGGCTTCC -3'
(R):5'- GTCCAGTAATTATTTCACTGTCTGTC -3'
Posted On 2019-10-07