Mutagenetix > Incidental Mutation

Incidental Mutation 'R6886:Bbs12'

536939

Institutional Source

Beutler Lab

Gene Symbol

Bbs12

Ensembl Gene

ENSMUSG00000051444

Gene Name

Bardet-Biedl syndrome 12

Synonyms

LOC241950, LOC386537, LOC241950

MMRRC Submission

044980-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6886 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37366703-37375602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37373390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 61 (D61G)

Ref Sequence

ENSEMBL: ENSMUSP00000052179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057975] [ENSMUST00000108121]

AlphaFold

Q5SUD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000057975
AA Change: D61G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: D61G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	181	576	3.4e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	A	T	8: 22,518,706 (GRCm39)	M44K	probably benign	Het
Bad	T	C	19: 6,928,702 (GRCm39)		probably benign	Het
Bcr	C	T	10: 74,989,769 (GRCm39)	R722C	probably damaging	Het
Carf	C	A	1: 60,175,413 (GRCm39)		probably null	Het
Ccdc181	A	G	1: 164,107,665 (GRCm39)	E116G	probably damaging	Het
Celsr1	A	G	15: 85,915,855 (GRCm39)	V706A	probably benign	Het
Col9a1	T	A	1: 24,224,426 (GRCm39)	S203T	unknown	Het
Ctsl	T	C	13: 64,512,961 (GRCm39)		probably null	Het
Exosc7	A	T	9: 122,965,023 (GRCm39)	E277D	probably benign	Het
Fam20b	A	T	1: 156,518,081 (GRCm39)	W238R	probably damaging	Het
Fanci	A	T	7: 79,070,090 (GRCm39)	H430L	possibly damaging	Het
Fstl4	A	G	11: 53,077,277 (GRCm39)	D678G	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,494,151 (GRCm39)		probably benign	Het
Gm11569	T	A	11: 99,689,247 (GRCm39)		probably benign	Het
Igfn1	G	A	1: 135,901,198 (GRCm39)	R306W	probably damaging	Het
Il6	C	T	5: 30,223,201 (GRCm39)		probably benign	Het
Khdc1c	T	C	1: 21,439,749 (GRCm39)	L100P	possibly damaging	Het
Kif18a	G	A	2: 109,127,008 (GRCm39)	R314H	probably damaging	Het
Kif26b	A	C	1: 178,701,703 (GRCm39)	K694T	probably damaging	Het
Kndc1	A	G	7: 139,493,485 (GRCm39)	T484A	probably benign	Het
Lonrf1	T	C	8: 36,696,191 (GRCm39)		probably null	Het
Man1a2	C	T	3: 100,563,387 (GRCm39)	G169D	probably benign	Het
Med6	G	T	12: 81,638,159 (GRCm39)	D17E	probably damaging	Het
Neb	T	C	2: 52,110,236 (GRCm39)	K204R	probably damaging	Het
Nhlrc1	T	A	13: 47,167,252 (GRCm39)	N335I	possibly damaging	Het
Nlrp12	T	C	7: 3,289,313 (GRCm39)	M400V	probably benign	Het
Or7e173	G	T	9: 19,938,428 (GRCm39)	H269N	probably benign	Het
Or8k22	A	T	2: 86,163,408 (GRCm39)	C97*	probably null	Het
Pkhd1	C	T	1: 20,417,504 (GRCm39)	S2549N	probably benign	Het
Pramel26	A	G	4: 143,539,332 (GRCm39)	F54L	probably benign	Het
Rab4b	A	C	7: 26,872,381 (GRCm39)	L145R	probably damaging	Het
Rad50	T	C	11: 53,577,011 (GRCm39)	I526V	probably benign	Het
Rel	T	C	11: 23,694,304 (GRCm39)	H309R	probably benign	Het
Rnf2	G	T	1: 151,349,017 (GRCm39)	N34K	possibly damaging	Het
Serpina3m	G	T	12: 104,355,386 (GRCm39)	V18F	possibly damaging	Het
Serpinb9c	T	C	13: 33,334,310 (GRCm39)	K244R	probably benign	Het
Setbp1	T	A	18: 78,900,715 (GRCm39)	Y984F	probably damaging	Het
Slc12a5	T	A	2: 164,824,825 (GRCm39)	M410K	probably benign	Het
Smarca4	C	T	9: 21,570,127 (GRCm39)	A710V	probably damaging	Het
Snx19	C	A	9: 30,340,231 (GRCm39)	D456E	probably damaging	Het
Ssrp1	T	A	2: 84,870,280 (GRCm39)	D101E	probably benign	Het
Tax1bp1	A	T	6: 52,710,208 (GRCm39)	E162D	probably benign	Het
Tenm4	T	A	7: 96,446,599 (GRCm39)	M823K	possibly damaging	Het
Tesk1	A	G	4: 43,443,592 (GRCm39)	D53G	possibly damaging	Het
Tnrc6a	T	A	7: 122,786,668 (GRCm39)	S1577T	probably benign	Het
Tpr	A	G	1: 150,299,716 (GRCm39)	I1270V	probably benign	Het
Trp53bp2	T	C	1: 182,256,608 (GRCm39)		probably null	Het
Ube4a	A	T	9: 44,860,141 (GRCm39)	I307N	probably damaging	Het
Unc13b	A	G	4: 43,170,156 (GRCm39)		probably benign	Het
Vmn2r3	T	C	3: 64,166,927 (GRCm39)	K735E	probably damaging	Het
Vmn2r54	A	G	7: 12,366,080 (GRCm39)	F285L	probably benign	Het
Vmn2r81	T	G	10: 79,103,988 (GRCm39)	S204A	possibly damaging	Het
Washc1	A	G	17: 66,426,061 (GRCm39)	D453G	probably damaging	Het
Zfp329	T	A	7: 12,544,025 (GRCm39)	I500L	probably benign	Het
Zfp516	A	G	18: 82,975,125 (GRCm39)	D441G	probably benign	Het
Zfp644	T	C	5: 106,785,777 (GRCm39)	T257A	possibly damaging	Het

Other mutations in Bbs12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GATGGCTTGCAGGGTCATAAAC -3'
(R):5'- TGTGTATGGGTACTTGAAGAGAAAC -3'

Sequencing Primer
(F):5'- CTTGCAGGGTCATAAACAGAAG -3'
(R):5'- GCAAGAGTTCAAGCCTTCTG -3'

Posted On

2018-10-18