Mutagenetix > Incidental Mutations

Incidental Mutation 'R5208:Bbs12'

402138

Institutional Source

Beutler Lab

Gene Symbol

Bbs12

Ensembl Gene

ENSMUSG00000051444

Gene Name

Bardet-Biedl syndrome 12 (human)

Synonyms

LOC241950, LOC386537, LOC241950

MMRRC Submission

042783-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37312554-37321453 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37320273 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 290 (I290T)

Ref Sequence

ENSEMBL: ENSMUSP00000103756 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057975
AA Change: I405T

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: I405T

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
AA Change: I290T

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: I290T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138710

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	C	A	7: 140,298,036	A977D	probably benign	Het
Aadacl4	A	T	4: 144,617,828	N58I	probably benign	Het
Adgra3	T	C	5: 50,011,515	D163G	probably damaging	Het
Alcam	C	A	16: 52,295,048	E236*	probably null	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,642,026		probably null	Het
Arl4a	A	T	12: 40,036,745	M1K	probably null	Het
Asic4	A	G	1: 75,451,226	D132G	probably damaging	Het
BC024139	A	G	15: 76,124,665	S290P	probably benign	Het
Bmp6	G	A	13: 38,469,697	A247T	probably benign	Het
Cadps	A	G	14: 12,457,711	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,769,433		probably null	Het
Cdc42bpg	G	A	19: 6,321,720	R1343K	probably benign	Het
Cdk18	A	T	1: 132,117,480		probably null	Het
Cenpf	A	T	1: 189,671,046		probably null	Het
Cfhr1	A	T	1: 139,556,330		probably null	Het
Chn2	A	T	6: 54,295,801	I201F	probably damaging	Het
Chrdl2	A	G	7: 100,023,922	D175G	probably damaging	Het
Disp2	G	T	2: 118,791,805	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnah3	C	G	7: 120,032,638	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,802,423	Y372*	probably null	Het
Eftud2	G	A	11: 102,841,185	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,801,533	S1170A	probably benign	Het
Gdpd4	A	C	7: 98,014,911	K572Q	probably benign	Het
Gm7356	T	C	17: 14,001,194	E191G	probably damaging	Het
Gm8674	A	T	13: 49,901,921		noncoding transcript	Het
Gulp1	T	G	1: 44,781,039	H235Q	probably benign	Het
Hormad1	T	C	3: 95,578,107	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,751,317	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,927,701	Y194F	possibly damaging	Het
Lars	A	C	18: 42,217,557	S896A	probably benign	Het
Lonp1	A	G	17: 56,617,793	V538A	probably damaging	Het
Map3k14	A	T	11: 103,239,146	L315Q	probably damaging	Het
Met	T	A	6: 17,526,423	Y500*	probably null	Het
Mga	T	G	2: 119,947,981	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,455,881	I152L	probably benign	Het
Mthfsd	G	A	8: 121,108,319		probably benign	Het
Mup4	A	G	4: 59,958,119	F150L	probably damaging	Het
Mybph	T	A	1: 134,193,535	V11D	probably benign	Het
Olfr1278	A	T	2: 111,292,601	E111V	probably damaging	Het
Olfr668	A	G	7: 104,925,726	F13L	probably benign	Het
Olfr988	T	A	2: 85,353,798	I43F	probably benign	Het
Pde4a	T	C	9: 21,203,558		probably null	Het
Pex2	C	T	3: 5,561,368	R127H	probably benign	Het
Pgap3	A	G	11: 98,398,048	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,018,484	V14A	probably benign	Het
Psg25	A	T	7: 18,526,535	I146N	probably benign	Het
Ptprn2	A	G	12: 116,858,928	Y209C	probably damaging	Het
Sema4c	T	A	1: 36,550,326	D573V	probably damaging	Het
Setx	A	T	2: 29,166,367	I2192F	possibly damaging	Het
Sp4	A	G	12: 118,299,546	L255P	probably damaging	Het
Spaca7	A	G	8: 12,586,456	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,746,595	I390L	possibly damaging	Het
Tars2	A	G	3: 95,747,593	W128R	probably damaging	Het
Tll1	G	A	8: 64,051,493	T623M	probably damaging	Het
Tmem129	A	T	5: 33,655,506	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,994,153	I73F	probably benign	Het
Tnks1bp1	T	C	2: 85,070,632	M1561T	probably damaging	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Zfat	A	T	15: 68,180,721	I401N	probably damaging	Het
Zfp142	A	T	1: 74,570,868	V1153E	probably benign	Het
Zwilch	T	C	9: 64,152,923	I354V	probably benign	Het

Other mutations in Bbs12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Bbs12	APN	3	37320197	missense	probably damaging	1.00
IGL00698:Bbs12	APN	3	37320794	missense	probably benign	0.00
IGL02105:Bbs12	APN	3	37320147	missense	probably damaging	1.00
IGL02110:Bbs12	APN	3	37319187	missense	probably benign	0.01
IGL03036:Bbs12	APN	3	37319194	missense	possibly damaging	0.86
haribo	UTSW	3	37320380	missense	probably damaging	1.00
R0310:Bbs12	UTSW	3	37321045	missense	probably damaging	1.00
R1888:Bbs12	UTSW	3	37320563	missense	probably damaging	1.00
R1888:Bbs12	UTSW	3	37320563	missense	probably damaging	1.00
R2061:Bbs12	UTSW	3	37319066	missense	probably damaging	0.97
R2152:Bbs12	UTSW	3	37321160	nonsense	probably null
R4455:Bbs12	UTSW	3	37320312	missense	probably damaging	1.00
R4472:Bbs12	UTSW	3	37319220	missense	possibly damaging	0.95
R4762:Bbs12	UTSW	3	37320380	missense	probably damaging	1.00
R5841:Bbs12	UTSW	3	37319521	missense	probably benign	0.05
R5864:Bbs12	UTSW	3	37319490	missense	probably damaging	1.00
R5872:Bbs12	UTSW	3	37320449	missense	possibly damaging	0.83
R5941:Bbs12	UTSW	3	37320048	missense	probably damaging	0.98
R5954:Bbs12	UTSW	3	37320002	missense	possibly damaging	0.95
R6125:Bbs12	UTSW	3	37320551	missense	probably benign	0.01
R6562:Bbs12	UTSW	3	37320240	missense	probably damaging	1.00
R6886:Bbs12	UTSW	3	37319241	missense	probably damaging	1.00
R7454:Bbs12	UTSW	3	37320953	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATCAAGGAATTGCAGGATCAGCC -3'
(R):5'- CATGAGGACTCATCCAGAAGGTC -3'

Sequencing Primer
(F):5'- GGATCAGCCTTTCCGAGTGATTC -3'
(R):5'- GACTCATCCAGAAGGTCACAGAG -3'

Posted On

2016-07-22