Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Bbs1'

533563

Institutional Source

Beutler Lab

Gene Symbol

Bbs1

Ensembl Gene

ENSMUSG00000006464

Gene Name

Bardet-Biedl syndrome 1 (human)

Synonyms

D19Ertd609e

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R6805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4886898-4906627 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4900615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 200 (I200T)

Ref Sequence

ENSEMBL: ENSMUSP00000055321 (fasta)

Gene Model

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

AlphaFold

Q3V3N7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053506
AA Change: I200T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: I200T

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: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,306	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905		probably benign	Het
Aadac	A	C	3: 60,037,336	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459	K192E	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239	L1429P	probably damaging	Het
Cul2	T	G	18: 3,421,263	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137	R427Q	probably damaging	Het
Def6	A	G	17: 28,223,717	T285A	probably damaging	Het
Defb21	T	A	2: 152,574,869	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850	H286Q	probably benign	Het
Eya1	T	A	1: 14,183,277	T459S	probably benign	Het
Faf1	T	C	4: 109,861,852	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507	R434L	probably damaging	Het
Gga3	A	G	11: 115,585,762	F709L	probably damaging	Het
Hcar1	A	G	5: 123,879,130	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,294,321	C164*	probably null	Het
Ifi202b	T	C	1: 173,974,989	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323	Y182*	probably null	Het
Jup	A	T	11: 100,383,458	D135E	probably benign	Het
Kit	T	A	5: 75,652,808	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173		probably null	Het
Naip1	A	G	13: 100,427,341	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918		probably null	Het
Olfr835	G	T	9: 19,035,301	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561		probably null	Het
Phf12	G	A	11: 78,027,373	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,239,489	T234A		Het
Prune2	A	T	19: 17,120,590	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885		probably null	Het
Qpctl	T	C	7: 19,149,154	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980		probably null	Het
St6galnac1	G	T	11: 116,768,944	A181D	probably damaging	Het
Stk36	T	C	1: 74,622,239	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,361,288	T263A	possibly damaging	Het
Tex24	A	T	8: 27,345,000	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,890,845	S57P	probably benign	Het
Zbtb49	A	G	5: 38,213,241		probably benign	Het
Zfp758	A	G	17: 22,361,669	T30A	probably benign	Het

Other mutations in Bbs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Bbs1	APN	19	4893010	missense	probably benign
IGL01110:Bbs1	APN	19	4892925	missense	possibly damaging	0.93
IGL01116:Bbs1	APN	19	4902839	splice site	probably benign
IGL01480:Bbs1	APN	19	4894393	missense	probably damaging	1.00
IGL01926:Bbs1	APN	19	4902863	missense	probably benign	0.01
IGL02893:Bbs1	APN	19	4897576	nonsense	probably null
IGL03136:Bbs1	APN	19	4890991	missense	probably benign	0.10
IGL03342:Bbs1	APN	19	4897593	missense	probably damaging	1.00
bookface	UTSW	19	4897326	missense	possibly damaging	0.81
PIT4131001:Bbs1	UTSW	19	4899259	missense	possibly damaging	0.83
PIT4378001:Bbs1	UTSW	19	4891675	missense	probably benign	0.05
PIT4468001:Bbs1	UTSW	19	4906162	missense	probably benign	0.19
R0023:Bbs1	UTSW	19	4906014	missense	probably damaging	1.00
R0023:Bbs1	UTSW	19	4906014	missense	probably damaging	1.00
R0127:Bbs1	UTSW	19	4895029	missense	probably benign	0.05
R1423:Bbs1	UTSW	19	4894263	missense	probably benign	0.08
R1760:Bbs1	UTSW	19	4894322	missense	probably benign	0.10
R1992:Bbs1	UTSW	19	4891708	missense	probably benign
R2145:Bbs1	UTSW	19	4903707	missense	possibly damaging	0.71
R4097:Bbs1	UTSW	19	4897317	missense	probably damaging	1.00
R5717:Bbs1	UTSW	19	4897326	missense	possibly damaging	0.81
R5947:Bbs1	UTSW	19	4892994	missense	probably benign	0.27
R6005:Bbs1	UTSW	19	4903795	nonsense	probably null
R6175:Bbs1	UTSW	19	4890721	missense	probably damaging	1.00
R6597:Bbs1	UTSW	19	4899306	missense	probably benign	0.01
R6734:Bbs1	UTSW	19	4903896	missense	probably benign	0.10
R6772:Bbs1	UTSW	19	4906590	unclassified	probably benign
R6838:Bbs1	UTSW	19	4903852	missense	possibly damaging	0.47
R7198:Bbs1	UTSW	19	4895015	missense	probably damaging	0.97
R7276:Bbs1	UTSW	19	4897710	splice site	probably null
R7685:Bbs1	UTSW	19	4906154	missense	probably benign	0.43
R7696:Bbs1	UTSW	19	4890989	critical splice donor site	probably null
R7933:Bbs1	UTSW	19	4891650	splice site	probably benign
R8446:Bbs1	UTSW	19	4897605	missense	probably benign	0.05
R8892:Bbs1	UTSW	19	4892926	missense	probably benign	0.05
R9181:Bbs1	UTSW	19	4891042	missense	possibly damaging	0.64
R9602:Bbs1	UTSW	19	4891055	missense	probably damaging	1.00
Y5404:Bbs1	UTSW	19	4900607	missense	possibly damaging	0.49
Y5407:Bbs1	UTSW	19	4900607	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GAATAGATGCTACCCACACTGG -3'
(R):5'- CCGAGTTGGTTTTGACTCTGTAAC -3'

Sequencing Primer
(F):5'- CCACACTGGGAGAGCAGG -3'
(R):5'- TGACTCTGTAACTCATAAGTGGC -3'

Posted On

2018-09-12