Mutagenetix > Incidental Mutation

Incidental Mutation 'R6005:Bbs1'

479454

Institutional Source

Beutler Lab

Gene Symbol

Bbs1

Ensembl Gene

ENSMUSG00000006464

Gene Name

Bardet-Biedl syndrome 1

Synonyms

D19Ertd609e

MMRRC Submission

044425-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R6005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4936906-4956656 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 4953823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 113 (Y113*)

Ref Sequence

ENSEMBL: ENSMUSP00000055321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025851] [ENSMUST00000053506]

AlphaFold

Q3V3N7

Predicted Effect

probably benign
Transcript: ENSMUST00000025851

SMART Domains

Protein: ENSMUSP00000025851
Gene: ENSMUSG00000063904

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M49	143	704	1.3e-236	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000053506
AA Change: Y113*

SMART Domains

Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: Y113*

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:BBS1	23	276	2.7e-104	PFAM
low complexity region	293	305	N/A	INTRINSIC
low complexity region	458	466	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158036

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display partial embryonic lethality, low body weight before weaning, obesity after weaning, retinal degeneration, and abnormal olfactory epithelium and neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	A	T	15: 85,378,310 (GRCm39)	I111N	unknown	Het
Adgb	C	T	10: 10,271,096 (GRCm39)	R849H	probably damaging	Het
Ahnak	T	C	19: 8,992,525 (GRCm39)	V4603A	possibly damaging	Het
Ank1	A	G	8: 23,622,218 (GRCm39)	D1589G	probably damaging	Het
Ankrd2	A	G	19: 42,028,554 (GRCm39)	D70G	probably damaging	Het
Arid2	T	C	15: 96,268,853 (GRCm39)	S989P	probably benign	Het
Bfsp2	T	G	9: 103,325,749 (GRCm39)	K298T	probably damaging	Het
Bpi	G	A	2: 158,104,400 (GRCm39)	V168I	possibly damaging	Het
Cacna2d1	T	C	5: 16,566,819 (GRCm39)	S921P	probably damaging	Het
Clec4d	A	C	6: 123,244,118 (GRCm39)	T76P	probably damaging	Het
Coq8b	C	T	7: 26,956,750 (GRCm39)	Q468*	probably null	Het
Dennd6b	T	C	15: 89,072,371 (GRCm39)	E248G	possibly damaging	Het
Ednra	A	G	8: 78,401,556 (GRCm39)	S245P	possibly damaging	Het
Epb41l4a	C	T	18: 33,961,196 (GRCm39)	C446Y	probably benign	Het
Fam221a	A	G	6: 49,344,756 (GRCm39)		probably benign	Het
Fam229a	T	C	4: 129,385,296 (GRCm39)	S76P	probably benign	Het
Fryl	C	T	5: 73,240,638 (GRCm39)	D1321N	probably damaging	Het
Gata3os	T	C	2: 9,887,638 (GRCm39)		probably benign	Het
Gli2	C	T	1: 118,769,794 (GRCm39)	R586H	probably damaging	Het
Gm94	C	T	18: 43,925,862 (GRCm39)	A16T	possibly damaging	Het
Gorasp2	T	C	2: 70,521,095 (GRCm39)	V355A	probably benign	Het
Grid1	C	A	14: 35,045,369 (GRCm39)	T404N	probably damaging	Het
Gtf2i	C	A	5: 134,284,812 (GRCm39)	E475*	probably null	Het
Gucy1a2	T	C	9: 3,865,518 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,708,924 (GRCm39)	I153N	probably damaging	Het
Il11ra1	T	C	4: 41,763,887 (GRCm39)		probably null	Het
Ireb2	G	A	9: 54,816,089 (GRCm39)	G887S	probably damaging	Het
Kdsr	T	C	1: 106,662,311 (GRCm39)	E248G	probably benign	Het
Lemd2	C	G	17: 27,409,759 (GRCm39)	R464P	probably damaging	Het
Lrrfip1	T	C	1: 91,042,333 (GRCm39)	V246A	probably damaging	Het
Macf1	T	A	4: 123,368,068 (GRCm39)	D2231V	possibly damaging	Het
Map2k5	C	T	9: 63,188,301 (GRCm39)	D283N	probably damaging	Het
Mfsd5	A	G	15: 102,189,927 (GRCm39)	D433G	possibly damaging	Het
Mir700	C	A	4: 135,139,618 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,903,246 (GRCm39)	F52L	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Mycbp2	A	C	14: 103,394,159 (GRCm39)	S2691A	probably benign	Het
Myorg	T	A	4: 41,498,895 (GRCm39)	H245L	probably benign	Het
Nktr	T	A	9: 121,577,460 (GRCm39)		probably benign	Het
Obsl1	C	A	1: 75,468,859 (GRCm39)		probably null	Het
Or10ag60	A	T	2: 87,438,424 (GRCm39)	I231F	probably damaging	Het
Or52r1b	A	T	7: 102,690,853 (GRCm39)	I51F	probably damaging	Het
Or5aq7	A	G	2: 86,938,407 (GRCm39)	V108A	probably benign	Het
Or7g35	C	T	9: 19,496,181 (GRCm39)	T116I	probably benign	Het
Or8c11	T	C	9: 38,289,605 (GRCm39)	S137P	probably damaging	Het
Pcdhb22	T	A	18: 37,652,789 (GRCm39)	I162N	possibly damaging	Het
Pde1c	A	T	6: 56,456,187 (GRCm39)		probably null	Het
Pds5b	A	G	5: 150,693,241 (GRCm39)		probably null	Het
Pkd1l1	A	C	11: 8,807,113 (GRCm39)	W1568G	probably damaging	Het
Polr3c	A	T	3: 96,626,784 (GRCm39)	M258K	possibly damaging	Het
Pramel23	T	A	4: 143,425,002 (GRCm39)	H147L	probably benign	Het
Prss12	A	T	3: 123,276,417 (GRCm39)	I349F	probably benign	Het
Ptpn21	A	G	12: 98,644,811 (GRCm39)	*1177Q	probably null	Het
Rgs22	T	A	15: 36,010,713 (GRCm39)	K1125M	probably benign	Het
Rnf182	A	G	13: 43,821,511 (GRCm39)	K21E	probably damaging	Het
Rpl6	G	A	5: 121,343,577 (GRCm39)		probably benign	Het
Samsn1	C	T	16: 75,670,402 (GRCm39)	V234I	probably benign	Het
Scrib	A	G	15: 75,929,600 (GRCm39)	I1089T	probably damaging	Het
Sec31a	T	C	5: 100,511,737 (GRCm39)	T1092A	probably damaging	Het
Sh3bp2	G	T	5: 34,719,809 (GRCm39)	R606L	possibly damaging	Het
Sipa1	A	G	19: 5,706,229 (GRCm39)	V367A	probably damaging	Het
Slc25a44	C	T	3: 88,320,153 (GRCm39)	E269K	probably damaging	Het
Slc44a4	T	A	17: 35,142,430 (GRCm39)	M353K	possibly damaging	Het
Sorcs2	A	G	5: 36,176,728 (GRCm39)	S1142P	probably damaging	Het
Sptbn4	A	G	7: 27,118,024 (GRCm39)	F352L	probably damaging	Het
Synj1	A	T	16: 90,766,174 (GRCm39)	N541K	probably damaging	Het
Tas2r113	G	A	6: 132,870,659 (GRCm39)	R229K	probably benign	Het
Tcaf3	A	T	6: 42,566,905 (GRCm39)	I728K	probably benign	Het
Tcea1	A	G	1: 4,960,996 (GRCm39)	E167G	probably benign	Het
Timeless	G	A	10: 128,080,069 (GRCm39)	R406H	probably damaging	Het
Traf6	C	T	2: 101,527,029 (GRCm39)	R260*	probably null	Het
Traj31	C	T	14: 54,425,388 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,599,907 (GRCm39)	V19089D	probably damaging	Het
Unc80	C	T	1: 66,666,416 (GRCm39)	S1868L	possibly damaging	Het
Wdr38	A	T	2: 38,891,333 (GRCm39)	I287F	possibly damaging	Het
Wnt2	G	A	6: 18,030,322 (GRCm39)		probably benign	Het
Wnt5b	G	A	6: 119,410,615 (GRCm39)	P288L	probably benign	Het
Xkr5	G	T	8: 18,984,521 (GRCm39)	N174K	probably benign	Het
Zbtb6	C	T	2: 37,318,977 (GRCm39)	R317Q	probably damaging	Het
Zcchc7	AGGGG	AGGG	4: 44,931,218 (GRCm39)		probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Bbs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Bbs1	APN	19	4,943,038 (GRCm39)	missense	probably benign
IGL01110:Bbs1	APN	19	4,942,953 (GRCm39)	missense	possibly damaging	0.93
IGL01116:Bbs1	APN	19	4,952,867 (GRCm39)	splice site	probably benign
IGL01480:Bbs1	APN	19	4,944,421 (GRCm39)	missense	probably damaging	1.00
IGL01926:Bbs1	APN	19	4,952,891 (GRCm39)	missense	probably benign	0.01
IGL02893:Bbs1	APN	19	4,947,604 (GRCm39)	nonsense	probably null
IGL03136:Bbs1	APN	19	4,941,019 (GRCm39)	missense	probably benign	0.10
IGL03342:Bbs1	APN	19	4,947,621 (GRCm39)	missense	probably damaging	1.00
bookface	UTSW	19	4,947,354 (GRCm39)	missense	possibly damaging	0.81
PIT4131001:Bbs1	UTSW	19	4,949,287 (GRCm39)	missense	possibly damaging	0.83
PIT4378001:Bbs1	UTSW	19	4,941,703 (GRCm39)	missense	probably benign	0.05
PIT4468001:Bbs1	UTSW	19	4,956,190 (GRCm39)	missense	probably benign	0.19
R0023:Bbs1	UTSW	19	4,956,042 (GRCm39)	missense	probably damaging	1.00
R0023:Bbs1	UTSW	19	4,956,042 (GRCm39)	missense	probably damaging	1.00
R0127:Bbs1	UTSW	19	4,945,057 (GRCm39)	missense	probably benign	0.05
R1423:Bbs1	UTSW	19	4,944,291 (GRCm39)	missense	probably benign	0.08
R1760:Bbs1	UTSW	19	4,944,350 (GRCm39)	missense	probably benign	0.10
R1992:Bbs1	UTSW	19	4,941,736 (GRCm39)	missense	probably benign
R2145:Bbs1	UTSW	19	4,953,735 (GRCm39)	missense	possibly damaging	0.71
R4097:Bbs1	UTSW	19	4,947,345 (GRCm39)	missense	probably damaging	1.00
R5717:Bbs1	UTSW	19	4,947,354 (GRCm39)	missense	possibly damaging	0.81
R5947:Bbs1	UTSW	19	4,943,022 (GRCm39)	missense	probably benign	0.27
R6175:Bbs1	UTSW	19	4,940,749 (GRCm39)	missense	probably damaging	1.00
R6597:Bbs1	UTSW	19	4,949,334 (GRCm39)	missense	probably benign	0.01
R6734:Bbs1	UTSW	19	4,953,924 (GRCm39)	missense	probably benign	0.10
R6772:Bbs1	UTSW	19	4,956,618 (GRCm39)	unclassified	probably benign
R6805:Bbs1	UTSW	19	4,950,643 (GRCm39)	missense	probably damaging	1.00
R6838:Bbs1	UTSW	19	4,953,880 (GRCm39)	missense	possibly damaging	0.47
R7198:Bbs1	UTSW	19	4,945,043 (GRCm39)	missense	probably damaging	0.97
R7276:Bbs1	UTSW	19	4,947,738 (GRCm39)	splice site	probably null
R7685:Bbs1	UTSW	19	4,956,182 (GRCm39)	missense	probably benign	0.43
R7696:Bbs1	UTSW	19	4,941,017 (GRCm39)	critical splice donor site	probably null
R7933:Bbs1	UTSW	19	4,941,678 (GRCm39)	splice site	probably benign
R8446:Bbs1	UTSW	19	4,947,633 (GRCm39)	missense	probably benign	0.05
R8892:Bbs1	UTSW	19	4,942,954 (GRCm39)	missense	probably benign	0.05
R9181:Bbs1	UTSW	19	4,941,070 (GRCm39)	missense	possibly damaging	0.64
R9602:Bbs1	UTSW	19	4,941,083 (GRCm39)	missense	probably damaging	1.00
Y5404:Bbs1	UTSW	19	4,950,635 (GRCm39)	missense	possibly damaging	0.49
Y5407:Bbs1	UTSW	19	4,950,635 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- TTCCACTACTGTGAGCCCAC -3'
(R):5'- AGACGGCCCTTATGCTGAATG -3'

Sequencing Primer
(F):5'- TGTGAGCCCACTCTCCTGAG -3'
(R):5'- GGCCCTTATGCTGAATGGTCTC -3'

Posted On

2017-06-26