Mutagenetix > Incidental Mutation

Incidental Mutation 'R0326:Bbs7'

25775

Institutional Source

Beutler Lab

Gene Symbol

Bbs7

Ensembl Gene

ENSMUSG00000037325

Gene Name

Bardet-Biedl syndrome 7

Synonyms

8430406N16Rik

MMRRC Submission

038536-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0326 (G1)

Quality Score

187

Status

Not validated

Chromosome

Chromosomal Location

36627291-36667626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 36646525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 432 (C432G)

Ref Sequence

ENSEMBL: ENSMUSP00000103791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040148] [ENSMUST00000108155] [ENSMUST00000108156]

AlphaFold

Q8K2G4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040148
AA Change: C432G

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047273
Gene: ENSMUSG00000037325
AA Change: C432G

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
coiled coil region	330	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108155
AA Change: C432G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000103790
Gene: ENSMUSG00000037325
AA Change: C432G

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
coiled coil region	330	365	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108156
AA Change: C432G

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103791
Gene: ENSMUSG00000037325
AA Change: C432G

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
coiled coil region	330	365	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial preweaning lethality, retinal degeneration, obesity, ventriculomegaly, abnormal brain ependyma motile cilium morphology, and male infertility characterized by abnormal sperm flagellar axoneme structures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,670,635 (GRCm39)	P286S	possibly damaging	Het
Aagab	T	A	9: 63,526,444 (GRCm39)	S156T	probably damaging	Het
Abca14	T	G	7: 119,823,642 (GRCm39)	Y390D	probably damaging	Het
Abcc2	T	A	19: 43,814,386 (GRCm39)	I1122N	possibly damaging	Het
Adamts16	T	C	13: 70,927,730 (GRCm39)	E503G	possibly damaging	Het
Adamts9	A	T	6: 92,835,038 (GRCm39)	C697*	probably null	Het
Adgrv1	T	C	13: 81,623,112 (GRCm39)	D3837G	possibly damaging	Het
Ahcyl	T	A	16: 45,974,246 (GRCm39)	D377V	probably benign	Het
Aire	T	A	10: 77,878,433 (GRCm39)	R128S	probably damaging	Het
Alkbh2	A	C	5: 114,262,011 (GRCm39)	*240E	probably null	Het
Als2	T	C	1: 59,219,742 (GRCm39)	Y1191C	probably damaging	Het
Anapc5	A	T	5: 122,952,667 (GRCm39)	V186E	probably benign	Het
Apob	C	T	12: 8,040,307 (GRCm39)	A548V	probably damaging	Het
B3galt4	A	T	17: 34,169,722 (GRCm39)	V172E	probably damaging	Het
Cacna2d3	T	A	14: 28,767,601 (GRCm39)	E758V	probably damaging	Het
Cactin	T	G	10: 81,158,496 (GRCm39)	L154R	probably benign	Het
Ccdc88a	A	C	11: 29,411,021 (GRCm39)	R502S	probably benign	Het
Ccnf	A	T	17: 24,450,784 (GRCm39)	I398N	possibly damaging	Het
Chd1	A	T	17: 15,988,828 (GRCm39)	D1527V	probably damaging	Het
Chd1	A	T	17: 15,988,830 (GRCm39)	M1528L	probably benign	Het
Chrac1	G	A	15: 72,964,675 (GRCm39)		probably null	Het
Cln3	T	G	7: 126,182,217 (GRCm39)	M1L	probably damaging	Het
Cnot6	T	C	11: 49,568,263 (GRCm39)	Y442C	probably damaging	Het
Col19a1	A	T	1: 24,324,132 (GRCm39)		probably null	Het
Col1a2	T	C	6: 4,537,838 (GRCm39)	F1116L	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cops4	T	G	5: 100,676,408 (GRCm39)	V53G	probably damaging	Het
Crnkl1	A	G	2: 145,761,875 (GRCm39)	S561P	probably benign	Het
Ctnnb1	C	A	9: 120,780,778 (GRCm39)	Q99K	probably benign	Het
Cxcr5	T	C	9: 44,424,578 (GRCm39)	S360G	probably benign	Het
Dab2	G	A	15: 6,447,797 (GRCm39)	V60M	probably damaging	Het
Ddx3y	A	T	Y: 1,263,321 (GRCm39)	Y648*	probably null	Het
Dennd2a	T	A	6: 39,474,044 (GRCm39)	D430V	probably damaging	Het
Dsp	G	T	13: 38,376,846 (GRCm39)	E1544*	probably null	Het
Efcab7	A	T	4: 99,719,631 (GRCm39)	M38L	possibly damaging	Het
Fto	A	G	8: 92,136,155 (GRCm39)	N141S	probably damaging	Het
Gabrp	A	G	11: 33,504,362 (GRCm39)	F318L	probably damaging	Het
Gmeb1	A	C	4: 131,969,663 (GRCm39)	C103W	probably damaging	Het
Heatr9	T	C	11: 83,405,365 (GRCm39)	D365G	probably damaging	Het
Hif3a	G	A	7: 16,778,325 (GRCm39)	R436W	probably benign	Het
Hint2	A	G	4: 43,654,378 (GRCm39)	V145A	probably damaging	Het
Hmcn2	T	A	2: 31,313,237 (GRCm39)	L3482*	probably null	Het
Hsd3b1	A	T	3: 98,760,590 (GRCm39)	Y134N	probably damaging	Het
Impg2	T	A	16: 56,080,848 (GRCm39)	V775E	probably damaging	Het
Ipo5	A	G	14: 121,159,635 (GRCm39)	I154M	probably benign	Het
Itgad	T	A	7: 127,797,550 (GRCm39)	F893Y	probably benign	Het
Itprid1	A	T	6: 55,875,228 (GRCm39)	M393L	possibly damaging	Het
Kdm4a	T	C	4: 118,018,903 (GRCm39)	R438G	probably benign	Het
Klk1b11	T	A	7: 43,425,943 (GRCm39)	M1K	probably null	Het
Lama5	A	T	2: 179,824,219 (GRCm39)	V2602D	possibly damaging	Het
Lrch3	T	C	16: 32,799,870 (GRCm39)	S35P	probably damaging	Het
Mfn2	A	G	4: 147,967,745 (GRCm39)	L441P	probably damaging	Het
Mgat4c	A	T	10: 102,224,565 (GRCm39)	I260F	probably damaging	Het
Mon1b	T	A	8: 114,364,375 (GRCm39)	S51T	probably benign	Het
Myh11	T	C	16: 14,036,744 (GRCm39)	D993G	probably benign	Het
Myo1a	A	G	10: 127,552,166 (GRCm39)	N762D	probably benign	Het
Nacc2	A	T	2: 25,950,345 (GRCm39)	Y464N	probably damaging	Het
Nckap1	A	G	2: 80,383,714 (GRCm39)	I150T	probably benign	Het
Ndufv2	G	T	17: 66,387,816 (GRCm39)	P119T	probably damaging	Het
Noc4l	G	A	5: 110,800,241 (GRCm39)	R95*	probably null	Het
Ntng1	A	T	3: 110,042,819 (GRCm39)	Y2*	probably null	Het
Oog4	T	C	4: 143,165,773 (GRCm39)	N53D	probably benign	Het
Or10ak11	A	T	4: 118,687,022 (GRCm39)	V205D	possibly damaging	Het
Or4d11	C	T	19: 12,013,525 (GRCm39)	V194I	probably benign	Het
Or6c6c	A	G	10: 129,541,638 (GRCm39)	E297G	possibly damaging	Het
Or9i1b	C	T	19: 13,896,873 (GRCm39)	T163I	probably benign	Het
Phkg2	T	G	7: 127,173,075 (GRCm39)	L11R	probably damaging	Het
Pogz	A	G	3: 94,777,424 (GRCm39)	D368G	probably damaging	Het
Prex2	T	A	1: 11,355,289 (GRCm39)	L1530Q	probably damaging	Het
Prmt1	C	T	7: 44,628,878 (GRCm39)	E144K	probably damaging	Het
Prss8	T	A	7: 127,526,348 (GRCm39)	I121F	probably benign	Het
Psmd13	T	C	7: 140,477,624 (GRCm39)	L314P	probably damaging	Het
Ptch2	G	A	4: 116,966,081 (GRCm39)	G467D	probably damaging	Het
Rbm20	C	A	19: 53,852,596 (GRCm39)	P1192Q	probably damaging	Het
Rpl19	T	A	11: 97,919,200 (GRCm39)	D45E	probably benign	Het
Rsph10b	C	T	5: 143,903,946 (GRCm39)	A219V	probably damaging	Het
Rtraf	C	T	14: 19,864,600 (GRCm39)		probably null	Het
Scaf1	T	A	7: 44,658,175 (GRCm39)	T235S	probably damaging	Het
Shank1	T	A	7: 43,968,594 (GRCm39)	C296S	unknown	Het
Slc39a7	A	T	17: 34,247,924 (GRCm39)	V426D	probably damaging	Het
Slc41a2	A	T	10: 83,119,610 (GRCm39)	V384D	probably damaging	Het
Slco1c1	T	C	6: 141,505,499 (GRCm39)	L475P	probably benign	Het
Slco6d1	A	C	1: 98,418,359 (GRCm39)	K515T	probably benign	Het
Sos2	T	C	12: 69,682,459 (GRCm39)	E253G	probably damaging	Het
Sp6	G	T	11: 96,912,361 (GRCm39)	D25Y	possibly damaging	Het
Syt11	A	C	3: 88,669,855 (GRCm39)	D12E	possibly damaging	Het
Taf2	A	G	15: 54,910,856 (GRCm39)	L606P	probably damaging	Het
Tbc1d5	A	G	17: 51,273,764 (GRCm39)	Y116H	probably damaging	Het
Tnfrsf8	A	G	4: 145,015,029 (GRCm39)	I243T	possibly damaging	Het
Tnxb	A	G	17: 34,917,153 (GRCm39)	S2183G	probably benign	Het
Trim66	T	C	7: 109,059,379 (GRCm39)	Y853C	probably benign	Het
Ttn	T	A	2: 76,567,839 (GRCm39)	T27685S	probably damaging	Het
Ttn	T	C	2: 76,573,466 (GRCm39)	E25809G	probably damaging	Het
Uvssa	G	A	5: 33,566,191 (GRCm39)	G445S	probably benign	Het
Zfp326	T	C	5: 106,058,141 (GRCm39)	S427P	probably damaging	Het
Zfp592	A	G	7: 80,674,637 (GRCm39)	T534A	possibly damaging	Het
Zfp672	A	G	11: 58,207,173 (GRCm39)	S383P	possibly damaging	Het
Zfp799	A	G	17: 33,039,700 (GRCm39)	S188P	possibly damaging	Het
Zyg11b	A	C	4: 108,129,450 (GRCm39)	V54G	possibly damaging	Het

Other mutations in Bbs7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Bbs7	APN	3	36,629,436 (GRCm39)	makesense	probably null
IGL01533:Bbs7	APN	3	36,664,384 (GRCm39)	missense	possibly damaging	0.66
IGL01559:Bbs7	APN	3	36,648,659 (GRCm39)	missense	probably damaging	1.00
IGL01793:Bbs7	APN	3	36,659,831 (GRCm39)	critical splice donor site	probably null
IGL01867:Bbs7	APN	3	36,627,696 (GRCm39)	missense	probably benign	0.21
IGL01955:Bbs7	APN	3	36,664,471 (GRCm39)	missense	probably benign	0.16
IGL02207:Bbs7	APN	3	36,658,639 (GRCm39)	missense	probably benign	0.10
IGL02212:Bbs7	APN	3	36,648,558 (GRCm39)	missense	probably benign
IGL02451:Bbs7	APN	3	36,664,741 (GRCm39)	missense	possibly damaging	0.94
IGL03267:Bbs7	APN	3	36,627,654 (GRCm39)	missense	probably damaging	1.00
R0010:Bbs7	UTSW	3	36,661,866 (GRCm39)	splice site	probably null
R0243:Bbs7	UTSW	3	36,659,883 (GRCm39)	missense	probably benign
R0372:Bbs7	UTSW	3	36,656,981 (GRCm39)	missense	probably benign	0.00
R0398:Bbs7	UTSW	3	36,644,866 (GRCm39)	missense	probably benign
R0453:Bbs7	UTSW	3	36,661,818 (GRCm39)	missense	possibly damaging	0.79
R0485:Bbs7	UTSW	3	36,657,022 (GRCm39)	missense	probably damaging	1.00
R0592:Bbs7	UTSW	3	36,664,446 (GRCm39)	missense	probably benign	0.05
R0619:Bbs7	UTSW	3	36,661,725 (GRCm39)	missense	probably benign	0.02
R0720:Bbs7	UTSW	3	36,646,572 (GRCm39)	missense	probably damaging	1.00
R0963:Bbs7	UTSW	3	36,667,412 (GRCm39)	missense	probably benign	0.22
R1177:Bbs7	UTSW	3	36,664,329 (GRCm39)	splice site	probably null
R1242:Bbs7	UTSW	3	36,632,576 (GRCm39)	missense	probably damaging	1.00
R1336:Bbs7	UTSW	3	36,658,593 (GRCm39)	missense	probably benign
R1401:Bbs7	UTSW	3	36,627,706 (GRCm39)	missense	probably benign	0.09
R1564:Bbs7	UTSW	3	36,629,944 (GRCm39)	missense	probably damaging	0.99
R2417:Bbs7	UTSW	3	36,646,546 (GRCm39)	missense	probably damaging	1.00
R3736:Bbs7	UTSW	3	36,661,819 (GRCm39)	missense	possibly damaging	0.87
R4282:Bbs7	UTSW	3	36,627,720 (GRCm39)	missense	probably damaging	1.00
R5412:Bbs7	UTSW	3	36,653,522 (GRCm39)	missense	probably benign
R5444:Bbs7	UTSW	3	36,666,199 (GRCm39)	missense	possibly damaging	0.50
R5932:Bbs7	UTSW	3	36,636,847 (GRCm39)	missense	probably benign	0.01
R6030:Bbs7	UTSW	3	36,657,060 (GRCm39)	missense	probably damaging	0.98
R6030:Bbs7	UTSW	3	36,657,060 (GRCm39)	missense	probably damaging	0.98
R6148:Bbs7	UTSW	3	36,667,415 (GRCm39)	missense	probably damaging	1.00
R6173:Bbs7	UTSW	3	36,646,523 (GRCm39)	nonsense	probably null
R6897:Bbs7	UTSW	3	36,652,460 (GRCm39)	missense	probably benign	0.07
R6912:Bbs7	UTSW	3	36,659,853 (GRCm39)	missense	probably benign	0.00
R7224:Bbs7	UTSW	3	36,659,877 (GRCm39)	missense	possibly damaging	0.48
R7268:Bbs7	UTSW	3	36,658,575 (GRCm39)	missense	probably benign
R7456:Bbs7	UTSW	3	36,648,527 (GRCm39)	missense	probably damaging	0.99
R7959:Bbs7	UTSW	3	36,657,085 (GRCm39)	missense	probably damaging	1.00
R8013:Bbs7	UTSW	3	36,648,536 (GRCm39)	missense	probably damaging	1.00
R8014:Bbs7	UTSW	3	36,648,536 (GRCm39)	missense	probably damaging	1.00
R8182:Bbs7	UTSW	3	36,664,372 (GRCm39)	missense	probably damaging	1.00
R8750:Bbs7	UTSW	3	36,661,744 (GRCm39)	missense	possibly damaging	0.95
R9040:Bbs7	UTSW	3	36,629,987 (GRCm39)	missense	probably benign	0.00
R9045:Bbs7	UTSW	3	36,666,184 (GRCm39)	missense	probably benign	0.00
R9729:Bbs7	UTSW	3	36,661,818 (GRCm39)	missense	probably damaging	1.00
R9798:Bbs7	UTSW	3	36,652,439 (GRCm39)	missense	probably benign	0.01
X0003:Bbs7	UTSW	3	36,629,994 (GRCm39)	nonsense	probably null
Z1177:Bbs7	UTSW	3	36,657,069 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTAGATTGAGTTACCAGAGGGGCA -3'
(R):5'- GGAGCGAGAACCCTTAGAGTAAGCATT -3'

Sequencing Primer
(F):5'- ATGAGAGCCTCATGGAGCC -3'
(R):5'- GAACCCTTAGAGTAAGCATTTTGTGG -3'

Posted On

2013-04-16