Mutagenetix > Incidental Mutation

Incidental Mutation 'R6838:Bbs1'

537990

Institutional Source

Beutler Lab

Gene Symbol

Bbs1

Ensembl Gene

ENSMUSG00000006464

Gene Name

Bardet-Biedl syndrome 1

Synonyms

D19Ertd609e

MMRRC Submission

044946-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R6838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4936906-4956656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4953880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 94 (M94I)

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

possibly damaging
Transcript: ENSMUST00000053506
AA Change: M94I

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: M94I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Aqp9	T	A	9: 71,019,498 (GRCm39)	M321L	probably benign	Het
Avil	G	A	10: 126,849,431 (GRCm39)	D576N	probably benign	Het
Bms1	A	G	6: 118,393,455 (GRCm39)	V139A	probably benign	Het
Bscl2	A	T	19: 8,818,745 (GRCm39)	M57L	probably damaging	Het
C2cd5	A	G	6: 142,975,364 (GRCm39)	I794T	possibly damaging	Het
Cacna1s	C	T	1: 136,012,175 (GRCm39)	T539I	possibly damaging	Het
Cand1	T	C	10: 119,045,935 (GRCm39)	K990R	probably benign	Het
Capn7	A	G	14: 31,076,130 (GRCm39)	I311V	possibly damaging	Het
Cd180	A	G	13: 102,839,239 (GRCm39)	N41D	probably benign	Het
Cdin1	T	C	2: 115,607,471 (GRCm39)	F275L	possibly damaging	Het
Celsr1	G	A	15: 85,823,395 (GRCm39)	T1671I	probably benign	Het
Cep135	A	T	5: 76,780,062 (GRCm39)	Q798L	probably damaging	Het
Cfap65	T	C	1: 74,971,180 (GRCm39)	D46G	probably benign	Het
Cracd	A	T	5: 77,006,056 (GRCm39)	T806S	unknown	Het
Ddx46	G	T	13: 55,787,748 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,230,948 (GRCm39)	L1402P	probably damaging	Het
Dnah8	A	G	17: 30,929,525 (GRCm39)	E1402G	probably damaging	Het
Dock9	A	G	14: 121,784,008 (GRCm39)	Y1989H	possibly damaging	Het
Ereg	A	G	5: 91,236,323 (GRCm39)	D50G	probably benign	Het
Evi5	G	T	5: 107,990,027 (GRCm39)	T64K	possibly damaging	Het
Frem3	A	C	8: 81,338,660 (GRCm39)	T318P	probably damaging	Het
Gpx1	A	G	9: 108,217,139 (GRCm39)	D81G	possibly damaging	Het
Gramd1a	T	C	7: 30,833,929 (GRCm39)	I499V	probably benign	Het
H4c12	A	T	13: 21,934,375 (GRCm39)	F101I	probably damaging	Het
Herc2	T	A	7: 55,758,526 (GRCm39)	D804E	probably damaging	Het
Hk1	T	C	10: 62,107,437 (GRCm39)	E846G	probably damaging	Het
Iars2	G	A	1: 185,061,342 (GRCm39)	A48V	probably damaging	Het
Invs	C	T	4: 48,283,278 (GRCm39)	T10M	possibly damaging	Het
Ism2	A	T	12: 87,326,975 (GRCm39)	D321E	probably benign	Het
Itpr1	T	C	6: 108,448,152 (GRCm39)	S231P	possibly damaging	Het
Kif17	A	T	4: 138,005,710 (GRCm39)		probably null	Het
Lvrn	A	G	18: 47,023,947 (GRCm39)	I765V	possibly damaging	Het
Map4k4	T	A	1: 40,015,882 (GRCm39)	C108S	probably damaging	Het
Mapk13	G	T	17: 28,996,535 (GRCm39)		probably null	Het
Mapkapk2	T	A	1: 130,985,740 (GRCm39)	K95*	probably null	Het
Mau2	A	T	8: 70,491,947 (GRCm39)		probably null	Het
Mex3a	A	G	3: 88,444,084 (GRCm39)	T387A	probably benign	Het
Myo5a	T	C	9: 75,061,165 (GRCm39)		probably null	Het
Ncbp3	A	T	11: 72,964,300 (GRCm39)	M417L	possibly damaging	Het
Nod2	A	C	8: 89,397,086 (GRCm39)	E810A	possibly damaging	Het
Nol3	A	T	8: 106,006,207 (GRCm39)	E152V	probably damaging	Het
Obox6	T	C	7: 15,567,664 (GRCm39)	E261G	possibly damaging	Het
Or2h1	A	T	17: 37,404,058 (GRCm39)	L236*	probably null	Het
Or8b12b	A	C	9: 37,684,348 (GRCm39)	Y131S	possibly damaging	Het
P3h2	T	C	16: 25,924,034 (GRCm39)	S134G	possibly damaging	Het
Plxna2	A	T	1: 194,487,222 (GRCm39)	R1592S	possibly damaging	Het
Ppp1r12a	C	T	10: 108,097,137 (GRCm39)	S250L	possibly damaging	Het
Rab38	A	G	7: 88,099,917 (GRCm39)	D144G	possibly damaging	Het
Septin1	T	C	7: 126,815,894 (GRCm39)	M176V	probably benign	Het
Spata22	C	T	11: 73,236,759 (GRCm39)	T355M	probably benign	Het
Tango6	A	G	8: 107,468,706 (GRCm39)	N734S	probably benign	Het
Tbc1d17	C	A	7: 44,493,738 (GRCm39)	R295L	probably damaging	Het
Thsd7a	G	T	6: 12,504,074 (GRCm39)	P360Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnnt1	T	C	7: 4,510,406 (GRCm39)	N239S	possibly damaging	Het
Tpst1	A	T	5: 130,131,279 (GRCm39)	M250L	probably benign	Het
Urb1	T	A	16: 90,578,994 (GRCm39)	D689V	possibly damaging	Het
Usp28	T	A	9: 48,911,730 (GRCm39)		probably null	Het
Vldlr	G	A	19: 27,225,370 (GRCm39)	D816N	probably damaging	Het
Vmn1r257	T	A	7: 22,391,142 (GRCm39)	M201L	probably benign	Het
Wdr1	A	G	5: 38,687,374 (GRCm39)	V219A	probably damaging	Het
Xndc1	T	C	7: 101,722,476 (GRCm39)	V47A	possibly damaging	Het
Zfp366	C	T	13: 99,365,015 (GRCm39)	P59S	possibly damaging	Het
Zfp366	A	G	13: 99,382,685 (GRCm39)	E616G	possibly damaging	Het
Zfp937	T	A	2: 150,081,266 (GRCm39)	I432K	probably benign	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
R6005:Bbs1	UTSW	19	4,953,823 (GRCm39)	nonsense	probably null
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
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'- CCTCACTGTTGTTCCAGAGC -3'
(R):5'- TGAGTGAGACGGCCCTTATG -3'

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

Posted On

2018-10-18