Mutagenetix > Incidental Mutation

Incidental Mutation 'R6344:Bbip1'

514078

Institutional Source

Beutler Lab

Gene Symbol

Bbip1

Ensembl Gene

ENSMUSG00000084957

Gene Name

BBSome interacting protein 1

Synonyms

4930560M04Rik, Ncrna00081, 2610002B11Rik, 2310002J21Rik

MMRRC Submission

044498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R6344 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53918292-53933058 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53919912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 23 (V23A)

Ref Sequence

ENSEMBL: ENSMUSP00000136324 (fasta)

Gene Model

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

AlphaFold

J3QMK2

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 benign
Transcript: ENSMUST00000135402
AA Change: V23A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136324
Gene: ENSMUSG00000084957
AA Change: V23A

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: 100.0%
3x: 99.8%
10x: 98.3%
20x: 94.7%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,327,706 (GRCm39)	P707L	probably damaging	Het
Bdnf	A	T	2: 109,554,022 (GRCm39)	Y132F	probably benign	Het
C4bp	T	C	1: 130,583,752 (GRCm39)	D72G	probably benign	Het
Cdcp1	T	A	9: 123,011,447 (GRCm39)	K343N	possibly damaging	Het
Cep112	A	T	11: 108,410,000 (GRCm39)	Y472F	probably damaging	Het
Cops2	A	T	2: 125,700,899 (GRCm39)		probably benign	Het
Cyp27a1	T	C	1: 74,776,008 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,436,349 (GRCm39)	I3998V	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dnhd1	A	G	7: 105,343,817 (GRCm39)	I1720M	probably benign	Het
Fkbpl	A	G	17: 34,864,544 (GRCm39)	K104R	probably damaging	Het
Helq	G	T	5: 100,914,594 (GRCm39)	A966E	probably benign	Het
Iba57	G	A	11: 59,049,119 (GRCm39)	P350L	probably damaging	Het
Iqgap3	T	C	3: 87,989,401 (GRCm39)		probably null	Het
Kcnj9	A	G	1: 172,153,713 (GRCm39)	V137A	probably benign	Het
Kif19a	G	A	11: 114,672,777 (GRCm39)		probably null	Het
Kmt2a	A	T	9: 44,733,156 (GRCm39)		probably benign	Het
Lilra5	T	A	7: 4,241,785 (GRCm39)	F195I	probably damaging	Het
Mcm9	A	G	10: 53,414,033 (GRCm39)	I349T	probably benign	Het
Mlst8	A	G	17: 24,696,300 (GRCm39)	L143P	probably damaging	Het
Mrc1	T	C	2: 14,248,985 (GRCm39)	F174L	probably damaging	Het
Muc5b	T	A	7: 141,416,708 (GRCm39)	L3218Q	possibly damaging	Het
Myo1h	A	G	5: 114,466,776 (GRCm39)	S275G	probably damaging	Het
Myo5a	T	A	9: 75,067,791 (GRCm39)	V615D	probably benign	Het
Myo9b	T	C	8: 71,780,558 (GRCm39)	L485P	probably damaging	Het
Nav1	A	G	1: 135,378,534 (GRCm39)	Y1646H	probably damaging	Het
Nsf	A	T	11: 103,752,730 (GRCm39)	V539D	probably damaging	Het
Nutm1	A	T	2: 112,079,247 (GRCm39)	N889K	possibly damaging	Het
Or2n1b	C	T	17: 38,459,611 (GRCm39)	A44V	probably benign	Het
Or55b3	A	G	7: 102,126,738 (GRCm39)	L113P	probably damaging	Het
Pcdhga2	T	A	18: 37,803,815 (GRCm39)	V553E	probably benign	Het
Pkmyt1	T	C	17: 23,951,730 (GRCm39)	S95P	possibly damaging	Het
Ranbp2	T	A	10: 58,319,708 (GRCm39)		probably null	Het
Saxo2	T	A	7: 82,284,073 (GRCm39)	I262F	probably damaging	Het
Sco1	C	T	11: 66,946,571 (GRCm39)	R115W	probably damaging	Het
Slc27a3	G	T	3: 90,294,961 (GRCm39)	Y330*	probably null	Het
Slc6a4	C	T	11: 76,909,080 (GRCm39)	T364I	probably damaging	Het
Slit2	A	G	5: 48,377,023 (GRCm39)	I388V	probably benign	Het
Smc6	C	A	12: 11,347,107 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,488,675 (GRCm39)	W747*	probably null	Het
Stard9	T	A	2: 120,534,801 (GRCm39)	M3686K	probably benign	Het
Syne1	T	C	10: 4,972,212 (GRCm39)	D8732G	probably benign	Het
Tcaf3	A	G	6: 42,574,105 (GRCm39)	S36P	possibly damaging	Het
Trpv6	T	C	6: 41,602,356 (GRCm39)		probably null	Het
Tspear	T	C	10: 77,710,847 (GRCm39)	F490L	possibly damaging	Het
Ttn	A	G	2: 76,552,196 (GRCm39)	I31147T	probably damaging	Het
Ugt3a1	A	C	15: 9,306,317 (GRCm39)	E155D	probably damaging	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Washc2	G	T	6: 116,235,719 (GRCm39)	Q977H	probably benign	Het
Yars2	T	A	16: 16,120,899 (GRCm39)	W18R	probably benign	Het

Other mutations in Bbip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3741:Bbip1	UTSW	19	53,920,606 (GRCm39)	start codon destroyed	probably null	0.58
R4610:Bbip1	UTSW	19	53,920,606 (GRCm39)	start codon destroyed	probably null	0.58
R4982:Bbip1	UTSW	19	53,920,639 (GRCm39)	splice site	probably null
R5248:Bbip1	UTSW	19	53,919,786 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGGGGTTAAGATGGGGCATCC -3'
(R):5'- AGTCTGGCATCCAAGTCCAG -3'

Sequencing Primer
(F):5'- ATCCCCTACAGTGGTGGTAACTAG -3'
(R):5'- CCTTGCCTGACCATAGAGAAATGTG -3'

Posted On

2018-04-27