Mutagenetix > Incidental Mutation

Incidental Mutation 'R6175:Bbs1'

487732

Institutional Source

Beutler Lab

Gene Symbol

Bbs1

Ensembl Gene

ENSMUSG00000006464

Gene Name

Bardet-Biedl syndrome 1

Synonyms

D19Ertd609e

MMRRC Submission

044317-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R6175 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

4936906-4956656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4940749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 578 (L578Q)

Ref Sequence

ENSEMBL: ENSMUSP00000055321 (fasta)

Gene Model

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

AlphaFold

Q3V3N7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053506
AA Change: L578Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: L578Q

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

97% (85/88)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,902,448 (GRCm39)	K623E	probably damaging	Het
A530064D06Rik	T	A	17: 48,460,016 (GRCm39)	S227C	possibly damaging	Het
Adam30	A	T	3: 98,070,266 (GRCm39)	I700F	probably damaging	Het
Adam5	A	T	8: 25,276,167 (GRCm39)	M500K	probably benign	Het
Adgb	A	T	10: 10,274,687 (GRCm39)	S755T	possibly damaging	Het
Adgrv1	C	T	13: 81,534,124 (GRCm39)	G5819D	probably damaging	Het
Ank3	T	A	10: 69,763,557 (GRCm39)	Y17N	probably damaging	Het
Ano2	A	T	6: 125,969,918 (GRCm39)	M745L	probably benign	Het
Arap2	A	G	5: 62,872,074 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,291,759 (GRCm39)		probably benign	Het
AU021092	G	T	16: 5,038,312 (GRCm39)		probably null	Het
Brd9	A	T	13: 74,108,433 (GRCm39)	E589D	probably damaging	Het
Calr4	A	G	4: 109,101,442 (GRCm39)	D108G	probably benign	Het
Ccdc82	A	G	9: 13,272,798 (GRCm39)	D429G	probably damaging	Het
Cdh22	G	T	2: 164,988,550 (GRCm39)	N268K	probably damaging	Het
Ceacam12	G	A	7: 17,801,312 (GRCm39)	G97D	probably damaging	Het
Clcn1	A	G	6: 42,291,096 (GRCm39)	D990G	probably damaging	Het
Cyp2c40	T	C	19: 39,801,004 (GRCm39)	T84A	probably benign	Het
Dnah7a	G	A	1: 53,472,181 (GRCm39)	P3529S	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Efna3	GAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGC	3: 89,230,105 (GRCm39)		probably benign	Het
Ehd2	G	A	7: 15,697,389 (GRCm39)	Q4*	probably null	Het
Eml5	A	G	12: 98,760,715 (GRCm39)	V1726A	possibly damaging	Het
Esam	A	G	9: 37,439,544 (GRCm39)	T10A	probably benign	Het
Fbxl6	A	G	15: 76,422,633 (GRCm39)	L95P	probably benign	Het
Fbxw18	T	A	9: 109,505,947 (GRCm39)	L441F	probably damaging	Het
Fbxw4	A	G	19: 45,624,766 (GRCm39)	S73P	probably benign	Het
Fndc1	T	A	17: 7,991,479 (GRCm39)	H739L	unknown	Het
Foxp1	G	A	6: 98,943,037 (GRCm39)	T237I	probably damaging	Het
Greb1	A	T	12: 16,724,771 (GRCm39)	I1801N	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hoxa13	G	T	6: 52,236,908 (GRCm39)	N281K	probably damaging	Het
Hspg2	A	G	4: 137,296,829 (GRCm39)	T4328A	probably damaging	Het
Htr2a	C	G	14: 74,882,474 (GRCm39)	Y153*	probably null	Het
Iglv1	C	A	16: 18,903,844 (GRCm39)	A92S	probably damaging	Het
Itih1	A	G	14: 30,653,152 (GRCm39)	S759P	probably damaging	Het
Kctd1	G	T	18: 15,102,688 (GRCm39)	S831*	probably null	Het
Kif20a	T	A	18: 34,761,199 (GRCm39)	S265T	probably damaging	Het
Kif22	T	A	7: 126,630,228 (GRCm39)	E436V	possibly damaging	Het
Kif27	A	G	13: 58,459,051 (GRCm39)	W927R	probably damaging	Het
Lcorl	G	A	5: 45,933,832 (GRCm39)	P66L	probably damaging	Het
Lct	A	G	1: 128,255,451 (GRCm39)	L197P	probably damaging	Het
Lefty1	T	C	1: 180,762,714 (GRCm39)	S14P	unknown	Het
Lnp1	A	G	16: 56,737,855 (GRCm39)	S78P	possibly damaging	Het
Map3k19	A	T	1: 127,750,569 (GRCm39)	H927Q	probably benign	Het
Meiosin	C	A	7: 18,834,814 (GRCm39)		probably benign	Het
Mta3	A	G	17: 84,099,222 (GRCm39)	T430A	probably benign	Het
Muc2	G	T	7: 141,282,875 (GRCm39)	C627F	probably damaging	Het
Myh13	A	G	11: 67,245,588 (GRCm39)	D1076G	probably benign	Het
Nck2	T	A	1: 43,572,729 (GRCm39)	M1K	probably null	Het
Nipal1	A	G	5: 72,820,898 (GRCm39)	N131S	probably damaging	Het
Nlrp9c	T	C	7: 26,077,426 (GRCm39)		probably null	Het
Nr2f2	A	G	7: 70,007,946 (GRCm39)	S179P	probably damaging	Het
Or1j16	A	G	2: 36,530,063 (GRCm39)	D4G	probably benign	Het
Or1j21	A	T	2: 36,683,980 (GRCm39)	H244L	probably damaging	Het
Or9g19	A	T	2: 85,600,652 (GRCm39)	N169I	probably benign	Het
Oxt	G	T	2: 130,418,163 (GRCm39)		probably benign	Het
Pank2	T	A	2: 131,122,181 (GRCm39)	Y235*	probably null	Het
Pear1	A	G	3: 87,659,440 (GRCm39)	L798P	possibly damaging	Het
Pex14	T	C	4: 149,046,156 (GRCm39)	H258R	probably benign	Het
Pmpcb	A	G	5: 21,962,031 (GRCm39)	I487V	probably benign	Het
Ppie	T	C	4: 123,031,362 (GRCm39)	E44G	probably benign	Het
Ppp1r9a	A	T	6: 4,905,639 (GRCm39)	R65*	probably null	Het
Ralgapb	T	C	2: 158,288,075 (GRCm39)	S371P	probably damaging	Het
Ros1	T	C	10: 51,977,881 (GRCm39)	H1455R	probably benign	Het
Sacs	C	A	14: 61,450,275 (GRCm39)	T4107K	possibly damaging	Het
Sec24a	G	A	11: 51,622,718 (GRCm39)	T386M	probably damaging	Het
Slc10a4	A	T	5: 73,169,593 (GRCm39)	Y207F	possibly damaging	Het
Slc30a10	T	C	1: 185,187,508 (GRCm39)	L83P	probably damaging	Het
Slc38a9	T	A	13: 112,840,093 (GRCm39)	L324*	probably null	Het
Slc7a9	A	T	7: 35,165,277 (GRCm39)	Q474L	probably damaging	Het
Smc5	C	A	19: 23,191,534 (GRCm39)	V875L	possibly damaging	Het
Snap91	T	C	9: 86,707,053 (GRCm39)	R246G	probably damaging	Het
Sned1	A	G	1: 93,203,196 (GRCm39)		probably null	Het
Spink14	G	A	18: 44,164,938 (GRCm39)	G85E	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
St13	A	G	15: 81,283,506 (GRCm39)		probably null	Het
Stk10	A	G	11: 32,553,761 (GRCm39)	M593V	possibly damaging	Het
Tafa1	A	G	6: 96,092,721 (GRCm39)	H35R	probably benign	Het
Tex21	C	A	12: 76,245,707 (GRCm39)	A530S	probably benign	Het
Tln2	T	A	9: 67,131,363 (GRCm39)	K1394N	probably damaging	Het
Trhr2	C	A	8: 123,084,118 (GRCm39)	R294L	probably damaging	Het
Unc79	A	T	12: 103,149,708 (GRCm39)	I2408F	probably damaging	Het
Wdr24	T	C	17: 26,045,552 (GRCm39)	L429P	probably damaging	Het
Wwp2	T	A	8: 108,210,039 (GRCm39)	I139N	possibly damaging	Het
Zfp111	G	A	7: 23,897,554 (GRCm39)	R686C	unknown	Het
Zfp268	A	T	4: 145,350,811 (GRCm39)		probably benign	Het
Zyg11a	A	G	4: 108,046,878 (GRCm39)	V532A	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
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'- CTTGTTGCTCAGGTCACTGG -3'
(R):5'- TGTTAGCACAGCAGAGACC -3'

Sequencing Primer
(F):5'- TTGCTCAGGTCACTGGCAGAG -3'
(R):5'- AGAGACCCCCAGCCTTG -3'

Posted On

2017-10-10