Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4378001:Bbs1'

555038

Institutional Source

Beutler Lab

Gene Symbol

Bbs1

Ensembl Gene

ENSMUSG00000006464

Gene Name

Bardet-Biedl syndrome 1

Synonyms

D19Ertd609e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.824) question?

Stock #

PIT4378001 (G1)

Quality Score

154.008

Status

Not validated

Chromosome

Chromosomal Location

4936906-4956656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4941703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 529 (A529V)

Ref Sequence

ENSEMBL: ENSMUSP00000055321 (fasta)

Gene Model

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

AlphaFold

Q3V3N7

Predicted Effect

probably benign
Transcript: ENSMUST00000053506
AA Change: A529V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000055321
Gene: ENSMUSG00000006464
AA Change: A529V

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: 93.1%
3x: 90.8%
10x: 85.0%
20x: 72.2%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	T	C	11: 59,099,802 (GRCm39)	V100A	probably benign	Het
Adamtsl1	T	C	4: 86,117,601 (GRCm39)	V188A	possibly damaging	Het
Aldh6a1	T	C	12: 84,488,646 (GRCm39)	D80G	probably benign	Het
Ankrd50	T	C	3: 38,509,412 (GRCm39)	Q62R	possibly damaging	Het
Aopep	T	C	13: 63,163,021 (GRCm39)	L14P	probably damaging	Het
Arrdc1	T	A	2: 24,816,645 (GRCm39)	Y177F	probably damaging	Het
Asap1	C	T	15: 64,007,697 (GRCm39)	R384Q	probably damaging	Het
Atxn2l	A	T	7: 126,096,443 (GRCm39)	V433D	probably benign	Het
Bbx	G	A	16: 50,100,836 (GRCm39)	R20*	probably null	Het
Bend5	T	C	4: 111,288,304 (GRCm39)	V106A	probably benign	Het
C1galt1	A	G	6: 7,863,944 (GRCm39)	N8S	probably benign	Het
Cdc42ep1	G	A	15: 78,733,880 (GRCm39)	D327N	possibly damaging	Het
Cep162	A	G	9: 87,099,198 (GRCm39)	S767P	probably benign	Het
Cep43	T	C	17: 8,401,105 (GRCm39)	S209P	probably damaging	Het
Csmd1	T	C	8: 15,945,728 (GRCm39)	T3562A	probably damaging	Het
Dnah7a	A	G	1: 53,570,362 (GRCm39)	S1815P	probably damaging	Het
Ei24	A	T	9: 36,697,320 (GRCm39)	L136Q	probably damaging	Het
Extl2	T	G	3: 115,804,339 (GRCm39)	M1R	probably null	Het
Fat3	T	C	9: 16,288,104 (GRCm39)	E473G	probably benign	Het
Fcgbpl1	G	A	7: 27,853,889 (GRCm39)	D1618N	possibly damaging	Het
Fhip1a	A	G	3: 85,637,858 (GRCm39)	L147P	probably damaging	Het
G6pc3	T	A	11: 102,080,827 (GRCm39)	W26R	probably damaging	Het
Hc	T	A	2: 34,921,876 (GRCm39)	Y610F	probably benign	Het
Hecw1	T	C	13: 14,552,368 (GRCm39)	D77G	probably damaging	Het
Hgf	T	C	5: 16,816,860 (GRCm39)	V497A	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hyou1	A	C	9: 44,302,148 (GRCm39)	D968A	probably benign	Het
Jmjd1c	T	A	10: 67,065,692 (GRCm39)	S1525T	probably damaging	Het
Kcnc4	G	A	3: 107,354,879 (GRCm39)	T523I	probably benign	Het
Kcng1	C	T	2: 168,104,604 (GRCm39)	C414Y	probably damaging	Het
Klhdc10	T	C	6: 30,447,411 (GRCm39)	I204T	probably damaging	Het
Krt18	A	T	15: 101,938,358 (GRCm39)	T194S	probably benign	Het
Krt76	A	C	15: 101,800,842 (GRCm39)	N151K	probably damaging	Het
Krtap31-2	A	G	11: 99,827,542 (GRCm39)	T125A	possibly damaging	Het
Lama5	A	G	2: 179,831,238 (GRCm39)	V1807A	possibly damaging	Het
Lats1	T	G	10: 7,581,369 (GRCm39)	V718G	probably damaging	Het
Mef2b	A	G	8: 70,616,910 (GRCm39)	K4E	probably damaging	Het
Mertk	T	C	2: 128,624,537 (GRCm39)		probably null	Het
Mroh8	A	G	2: 157,070,620 (GRCm39)	V577A	possibly damaging	Het
Mtcl1	T	G	17: 66,745,274 (GRCm39)	N381T	probably damaging	Het
Nfyc	T	A	4: 120,647,688 (GRCm39)		probably null	Het
Nol4	C	A	18: 23,172,933 (GRCm39)	W56L	probably damaging	Het
Notch2	A	T	3: 98,050,272 (GRCm39)	D1849V	probably damaging	Het
Or10ad1	G	A	15: 98,105,452 (GRCm39)	T271I	probably damaging	Het
Or10j7	T	C	1: 173,011,381 (GRCm39)	T207A	probably benign	Het
Or14c45	A	T	7: 86,176,306 (GRCm39)	T114S	possibly damaging	Het
Or4n4b	T	C	14: 50,536,355 (GRCm39)	N137S	probably benign	Het
Or5an10	A	G	19: 12,276,076 (GRCm39)	M140T	probably damaging	Het
Or7g28	T	A	9: 19,272,471 (GRCm39)	Y60F	probably damaging	Het
Or8s5	A	G	15: 98,238,153 (GRCm39)	V239A	possibly damaging	Het
Oxr1	G	A	15: 41,664,978 (GRCm39)	V138I	probably benign	Het
Pars2	A	G	4: 106,511,490 (GRCm39)	E424G	possibly damaging	Het
Peli2	C	A	14: 48,405,726 (GRCm39)	Y50*	probably null	Het
Plag1	T	A	4: 3,905,492 (GRCm39)	H66L	probably benign	Het
Psme4	T	C	11: 30,771,079 (GRCm39)		probably benign	Het
Robo1	A	T	16: 72,801,423 (GRCm39)	S1016C	probably damaging	Het
Rrbp1	A	G	2: 143,816,460 (GRCm39)	V723A	probably benign	Het
Sgip1	C	A	4: 102,778,280 (GRCm39)	D292E	unknown	Het
Skint4	T	A	4: 111,944,232 (GRCm39)	C23S	probably benign	Het
Slc22a28	A	C	19: 8,049,279 (GRCm39)	S323R	probably damaging	Het
Slc41a3	A	G	6: 90,617,891 (GRCm39)	T306A	probably benign	Het
Spata13	A	G	14: 60,987,445 (GRCm39)	M868V	probably damaging	Het
Spata6	T	G	4: 111,603,378 (GRCm39)	I31S	possibly damaging	Het
Sycp3	A	T	10: 88,302,366 (GRCm39)	K119*	probably null	Het
Tlk2	T	A	11: 105,172,046 (GRCm39)	S739T	unknown	Het
Trim10	T	C	17: 37,188,020 (GRCm39)	V412A	probably damaging	Het
Ttc3	T	A	16: 94,211,765 (GRCm39)	F377I	probably benign	Het
Uck1	T	A	2: 32,146,046 (GRCm39)	H283L	probably damaging	Het
Unc5a	T	C	13: 55,143,681 (GRCm39)	Y122H	possibly damaging	Het
Uncx	C	T	5: 139,530,377 (GRCm39)	R152*	probably null	Het
Usp44	A	G	10: 93,681,517 (GRCm39)		probably benign	Het
Vamp2	A	C	11: 68,980,564 (GRCm39)	D44A	probably benign	Het
Vmn2r83	A	G	10: 79,304,849 (GRCm39)	T20A	probably benign	Het
Vmn2r84	A	T	10: 130,221,784 (GRCm39)	I812N	probably damaging	Het
Vrtn	T	G	12: 84,695,943 (GRCm39)	L231R	probably damaging	Het
Wdr75	A	G	1: 45,859,333 (GRCm39)	T677A	probably damaging	Het
Xylt1	C	A	7: 117,148,100 (GRCm39)	S221R	possibly damaging	Het
Zscan22	A	G	7: 12,637,983 (GRCm39)	E125G	possibly damaging	Het
Zxdc	A	T	6: 90,350,698 (GRCm39)	H383L	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
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
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'- ACTCACACAGCTATTTTCCAGC -3'
(R):5'- ATTCAGTGTTCAAGGCCAATGG -3'

Sequencing Primer
(F):5'- TCTCTCTGGCTGGGAGAAAG -3'
(R):5'- TGTTCAAGGCCAATGGGTCCTAAG -3'

Posted On

2019-06-07