Mutagenetix > Incidental Mutations

Incidental Mutation 'R4982:Bbip1'

384961

Institutional Source

Beutler Lab

Gene Symbol

Bbip1

Ensembl Gene

ENSMUSG00000084957

Gene Name

BBSome interacting protein 1

Synonyms

4930560M04Rik, 2310002J21Rik, Ncrna00081, 2610002B11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R4982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53929677-53944627 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 53932208 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025931] [ENSMUST00000074371] [ENSMUST00000135402] [ENSMUST00000165617]

Predicted Effect

probably benign
Transcript: ENSMUST00000025931

SMART Domains

Protein: ENSMUSP00000025931
Gene: ENSMUSG00000024975

Domain	Start	End	E-Value	Type
low complexity region	66	82	N/A	INTRINSIC
low complexity region	96	122	N/A	INTRINSIC
MA3	164	275	3.68e-41	SMART
MA3	327	440	5.01e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074371

SMART Domains

Protein: ENSMUSP00000073975
Gene: ENSMUSG00000024975

Domain	Start	End	E-Value	Type
low complexity region	66	82	N/A	INTRINSIC
low complexity region	96	122	N/A	INTRINSIC
MA3	164	275	3.68e-41	SMART
MA3	327	440	5.01e-43	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000135402

SMART Domains

Protein: ENSMUSP00000136324
Gene: ENSMUSG00000084957

Domain	Start	End	E-Value	Type
Pfam:BBIP10	1	64	2.7e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165617

SMART Domains

Protein: ENSMUSP00000133135
Gene: ENSMUSG00000024975

Domain	Start	End	E-Value	Type
low complexity region	66	82	N/A	INTRINSIC
low complexity region	96	122	N/A	INTRINSIC
MA3	164	275	3.68e-41	SMART
MA3	327	440	5.01e-43	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a null mutation display strain dependent postnatal lethality, obesity, hyperphagia, retinal degeneration and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,292,348	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,835,230	S287P	probably damaging	Het
Atxn2	G	T	5: 121,814,343	A1280S	possibly damaging	Het
Bbs2	A	G	8: 94,082,354		probably null	Het
Bcl11b	A	T	12: 107,965,772	C180*	probably null	Het
Bod1l	A	G	5: 41,820,473	V1166A	probably benign	Het
Bora	C	T	14: 99,047,352	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,613,241	E24G	probably benign	Het
Ccne1	A	T	7: 38,100,571	I196N	probably damaging	Het
Chsy3	C	T	18: 59,409,575	S595L	probably benign	Het
Chsy3	T	A	18: 59,409,767	I659N	possibly damaging	Het
Cntrob	T	A	11: 69,311,362		probably null	Het
Col5a2	G	A	1: 45,389,458	P983S	possibly damaging	Het
Crat	T	A	2: 30,407,136		probably null	Het
Ctnnbl1	C	T	2: 157,836,553	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,255,387	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,682,602	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,688,564	C86R	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Fam171a1	G	A	2: 3,178,468		probably null	Het
Fam222b	T	C	11: 78,154,743	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,702,651		probably benign	Het
Fes	T	C	7: 80,387,204	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,707,999	V51A	probably benign	Het
Gpr75	C	A	11: 30,891,462	H122Q	probably damaging	Het
Gpr75	C	T	11: 30,891,463	L123F	possibly damaging	Het
Greb1	A	G	12: 16,724,761	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512	H1041R	probably benign	Het
Ifna5	A	G	4: 88,835,624	N34D	probably damaging	Het
Ift140	A	T	17: 25,036,994	H221L	probably damaging	Het
Igsf3	T	C	3: 101,435,667	V540A	probably benign	Het
Il10ra	A	G	9: 45,269,059	L5S	probably damaging	Het
Klra2	A	T	6: 131,220,189	D282E	probably benign	Het
Lyst	T	A	13: 13,725,954	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,042,129	T1689A	probably benign	Het
Mon2	A	T	10: 122,995,789	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,836,327	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,809,456		probably benign	Het
Mybbp1a	T	C	11: 72,445,214	I451T	probably damaging	Het
Myh7	T	A	14: 54,972,767	E1827V	probably damaging	Het
Olfr132	A	T	17: 38,130,577	I205N	probably damaging	Het
Olfr145	C	A	9: 37,897,515	T37N	probably damaging	Het
Olfr342	A	T	2: 36,527,397		probably null	Het
Olfr501-ps1	T	A	7: 108,508,648	Y197*	probably null	Het
Os9	C	T	10: 127,121,051	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,669,423	N107D	probably benign	Het
Pclo	C	T	5: 14,679,294		probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phtf1	T	A	3: 103,998,708	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,818,996	L913R	probably damaging	Het
Pld1	C	A	3: 28,031,298	A201D	probably damaging	Het
Rorb	T	A	19: 18,977,688	Q103L	probably benign	Het
Sec24d	C	T	3: 123,299,606	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,157,754	I86V	probably benign	Het
Serpinb6a	A	T	13: 33,918,874	M201K	probably damaging	Het
Snx8	A	G	5: 140,352,234	S219P	probably benign	Het
Sp8	C	T	12: 118,848,425	T5I	probably damaging	Het
Tanc1	A	G	2: 59,799,943	N749D	probably damaging	Het
Tarm1	G	C	7: 3,489,096	P284A	probably damaging	Het
Tbx15	A	T	3: 99,254,074	E65V	probably benign	Het
Ticam1	T	A	17: 56,272,020	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,492,815	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,107,504	*310W	probably null	Het
Tsks	C	T	7: 44,943,994	T128I	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,886,606	F702S	probably benign	Het
Vmn1r175	A	T	7: 23,809,069	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,933,865	I41T	probably damaging	Het
Ythdc2	A	G	18: 44,871,465	N1102S	probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	Het

Other mutations in Bbip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3741:Bbip1	UTSW	19	53932175	start codon destroyed	probably null	0.58
R4610:Bbip1	UTSW	19	53932175	start codon destroyed	probably null	0.58
R5248:Bbip1	UTSW	19	53931355	unclassified	probably benign
R6344:Bbip1	UTSW	19	53931481	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TACAGCTTCCTCATGAACAGTGAG -3'
(R):5'- GGGAAGCTAGAATGTTTGATATTCC -3'

Sequencing Primer
(F):5'- GCTTCCTCATGAACAGTGAGAGTAC -3'
(R):5'- CCGTGCAGATAATGTAGGA -3'

Posted On

2016-05-10