Mutagenetix > Incidental Mutation

Incidental Mutation 'R9795:Bbs12'

734869

Institutional Source

Beutler Lab

Gene Symbol

Bbs12

Ensembl Gene

ENSMUSG00000051444

Gene Name

Bardet-Biedl syndrome 12

Synonyms

LOC241950, LOC386537, LOC241950

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R9795 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37366703-37375602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37374224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 224 (T224I)

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: T339I

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: T339I

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

possibly damaging
Transcript: ENSMUST00000108121
AA Change: T224I

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: T224I

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	T	15: 94,301,180 (GRCm39)	G115R	possibly damaging	Het
Adgrl3	T	C	5: 81,837,421 (GRCm39)	V701A	probably damaging	Het
Afap1l1	T	C	18: 61,874,822 (GRCm39)	D453G	possibly damaging	Het
Ano1	A	T	7: 144,175,434 (GRCm39)	W495R	probably damaging	Het
Apc	T	A	18: 34,447,628 (GRCm39)	L1508Q	probably damaging	Het
Cald1	A	T	6: 34,723,071 (GRCm39)	M52L		Het
Calhm6	T	C	10: 34,002,544 (GRCm39)	I180V	probably damaging	Het
Ccdc9b	T	C	2: 118,587,784 (GRCm39)	S517G	unknown	Het
Cdk12	T	A	11: 98,102,051 (GRCm39)	D636E	unknown	Het
Cfap53	A	G	18: 74,438,741 (GRCm39)	D306G	probably benign	Het
Cntnap4	T	C	8: 113,608,357 (GRCm39)	V1259A	probably benign	Het
Cntnap5c	A	T	17: 58,409,192 (GRCm39)	T477S	probably benign	Het
Epha3	T	C	16: 63,372,910 (GRCm39)	E931G	probably benign	Het
Foxred1	CGGG	CGG	9: 35,122,152 (GRCm39)		probably null	Het
Gstt1	T	C	10: 75,634,391 (GRCm39)		probably benign	Het
Hao1	T	A	2: 134,372,552 (GRCm39)	Y152F	possibly damaging	Het
Hcn4	C	T	9: 58,760,762 (GRCm39)	Q436*	probably null	Het
Hmcn1	G	A	1: 150,608,689 (GRCm39)	P1498S	possibly damaging	Het
Igkv4-79	A	G	6: 69,020,169 (GRCm39)	S49P	probably damaging	Het
Krt73	C	A	15: 101,710,725 (GRCm39)	R3L	probably damaging	Het
Lrriq3	T	C	3: 154,893,313 (GRCm39)	M338T	probably benign	Het
Ltbp2	A	T	12: 84,876,128 (GRCm39)	I493N	probably damaging	Het
Ly6e	G	T	15: 74,830,390 (GRCm39)	C80F	probably damaging	Het
Map1a	T	C	2: 121,121,304 (GRCm39)		probably null	Het
Mitf	A	G	6: 97,970,143 (GRCm39)	H137R	probably benign	Het
Nr1h4	T	G	10: 89,314,651 (GRCm39)	T286P	probably benign	Het
Nsd2	A	G	5: 34,003,489 (GRCm39)	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,847,345 (GRCm39)	S131P	probably damaging	Het
Nwd2	A	G	5: 63,964,232 (GRCm39)	E1272G	probably damaging	Het
Or2y1	A	T	11: 49,385,882 (GRCm39)	N174I	probably damaging	Het
Or4a78	T	C	2: 89,497,811 (GRCm39)	I140V	probably benign	Het
Or4f14c	T	C	2: 111,941,330 (GRCm39)	H89R	probably benign	Het
Or5ac17	T	A	16: 59,036,938 (GRCm39)	I13F	possibly damaging	Het
Or5p79	A	G	7: 108,221,869 (GRCm39)	I283M	probably benign	Het
Or7e170	T	A	9: 19,795,347 (GRCm39)	M85L	probably benign	Het
Or7g32	T	C	9: 19,408,412 (GRCm39)	Y123H	probably damaging	Het
Or8h9	T	A	2: 86,789,119 (GRCm39)	I228F	probably damaging	Het
Pacsin3	C	A	2: 91,094,160 (GRCm39)	A363D	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Pkhd1l1	T	C	15: 44,406,983 (GRCm39)	S2407P	probably benign	Het
Ppip5k2	A	T	1: 97,671,822 (GRCm39)	Y489*	probably null	Het
Qrich1	T	A	9: 108,411,089 (GRCm39)	S205T	probably benign	Het
Rasgrp1	T	C	2: 117,118,429 (GRCm39)	D520G	probably benign	Het
Rbm20	C	A	19: 53,852,551 (GRCm39)	T1177K	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sel1l3	C	A	5: 53,329,924 (GRCm39)	R477L	probably benign	Het
Slc27a3	C	T	3: 90,296,875 (GRCm39)	W32*	probably null	Het
Slc5a8	T	C	10: 88,757,591 (GRCm39)	I527T	possibly damaging	Het
Slc6a7	C	A	18: 61,138,866 (GRCm39)	R214L	probably benign	Het
Stx7	T	C	10: 24,057,475 (GRCm39)	L167P	probably damaging	Het
Sult1d1	T	A	5: 87,712,655 (GRCm39)	N63I	probably damaging	Het
Ttc23l	T	A	15: 10,537,731 (GRCm39)	I180F	probably benign	Het
Usp31	A	G	7: 121,247,499 (GRCm39)	S1315P	probably benign	Het
Usp9y	T	C	Y: 1,364,679 (GRCm39)	M1045V	probably benign	Het
Vmn2r118	T	C	17: 55,899,496 (GRCm39)	T803A	probably damaging	Het
Vmn2r97	T	A	17: 19,167,561 (GRCm39)	V605D	probably damaging	Het
Wdr26	A	G	1: 181,036,812 (GRCm39)	F143S	probably damaging	Het
Zfp51	T	G	17: 21,682,051 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGATCACAGCAGCATGGCATTG -3'
(R):5'- TGAGGGTCACATTGAACTGG -3'

Sequencing Primer
(F):5'- GCATTGGCCAAAGCAGC -3'
(R):5'- GGGTCACATTGAACTGGATTAACACC -3'

Posted On

2022-11-14