Mutagenetix > Incidental Mutation

Incidental Mutation 'R0453:Bbs7'

39748

Institutional Source

Beutler Lab

Gene Symbol

Bbs7

Ensembl Gene

ENSMUSG00000037325

Gene Name

Bardet-Biedl syndrome 7 (human)

Synonyms

8430406N16Rik

MMRRC Submission

038653-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0453 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36573142-36613477 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36607669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 127 (Y127F)

Ref Sequence

ENSEMBL: ENSMUSP00000103790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040148] [ENSMUST00000108155] [ENSMUST00000108156] [ENSMUST00000142333]

AlphaFold

Q8K2G4

Predicted Effect

probably benign
Transcript: ENSMUST00000040148
AA Change: Y127F

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047273
Gene: ENSMUSG00000037325
AA Change: Y127F

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: ENSMUST00000108155
AA Change: Y127F

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103790
Gene: ENSMUSG00000037325
AA Change: Y127F

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: ENSMUST00000108156
AA Change: Y127F

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103791
Gene: ENSMUSG00000037325
AA Change: Y127F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129671

Predicted Effect

probably benign
Transcript: ENSMUST00000142333

SMART Domains

Protein: ENSMUSP00000118961
Gene: ENSMUSG00000037325

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC

Meta Mutation Damage Score

0.1581

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (97/98)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,753,668	Y715C	probably damaging	Het
Acad10	T	A	5: 121,627,382	K843*	probably null	Het
Adam26b	T	C	8: 43,520,350	I538M	probably benign	Het
Adamtsl1	T	C	4: 86,232,615	Y337H	probably damaging	Het
Ak7	T	C	12: 105,716,048	M156T	probably damaging	Het
Aldh3a1	A	G	11: 61,215,512	M238V	probably benign	Het
Asic4	T	A	1: 75,473,511		probably benign	Het
AW551984	A	G	9: 39,600,641	S25P	probably damaging	Het
BC049730	T	A	7: 24,714,287	S243T	probably benign	Het
Bco1	G	A	8: 117,108,777	E156K	possibly damaging	Het
Becn1	T	C	11: 101,290,449	D342G	probably damaging	Het
Birc6	T	A	17: 74,649,754	I3575N	probably damaging	Het
Cc2d2a	A	T	5: 43,703,294	M522L	probably benign	Het
Cerkl	A	G	2: 79,342,451	F293L	probably benign	Het
Chil3	T	G	3: 106,148,905	N311T	probably benign	Het
Cpeb2	T	A	5: 43,285,713		probably benign	Het
Cpxm2	A	G	7: 132,128,405	S162P	probably damaging	Het
Cracr2b	A	C	7: 141,464,263	E136A	probably damaging	Het
Cyp2a4	T	A	7: 26,312,833	M347K	probably benign	Het
Dicer1	C	A	12: 104,702,630	R1264S	probably benign	Het
Dlgap1	T	A	17: 70,761,346	N609K	probably benign	Het
Dnhd1	A	G	7: 105,674,444	T641A	probably benign	Het
Egfl8	T	C	17: 34,614,882	Y74C	probably damaging	Het
Esyt1	A	G	10: 128,512,209	S901P	probably benign	Het
Fam83e	A	T	7: 45,723,948	D246V	probably damaging	Het
Galnt2	T	C	8: 124,338,584		probably benign	Het
Hdc	A	G	2: 126,594,951		probably benign	Het
Herc1	A	C	9: 66,399,772	Q958P	probably benign	Het
Iqcg	T	A	16: 33,049,843		probably benign	Het
Iqub	A	T	6: 24,450,830	F590Y	probably damaging	Het
Jak2	T	C	19: 29,311,838	I1130T	probably benign	Het
Kbtbd11	G	A	8: 15,027,499	A33T	probably benign	Het
Kcnip4	A	G	5: 48,509,712	L37P	probably damaging	Het
Klk6	A	G	7: 43,828,539	N112D	probably damaging	Het
Kmt2c	G	A	5: 25,354,747	T1011I	probably damaging	Het
Knl1	A	T	2: 119,068,388	K190M	probably damaging	Het
Lama3	T	A	18: 12,465,478	S981T	possibly damaging	Het
Lrrc18	T	C	14: 33,008,651	L49P	probably damaging	Het
Lrrc31	T	C	3: 30,687,525	E245G	probably damaging	Het
Macf1	T	C	4: 123,444,944	I2456M	probably benign	Het
Mcm6	T	A	1: 128,333,555	T771S	probably benign	Het
Met	A	C	6: 17,534,198	Y680S	possibly damaging	Het
Mixl1	T	A	1: 180,696,646	T123S	probably damaging	Het
Myh8	A	T	11: 67,292,905	I787F	probably benign	Het
Myocd	A	G	11: 65,196,225	F292S	probably damaging	Het
Neb	T	C	2: 52,313,890		probably null	Het
Nfe2l1	A	G	11: 96,827,368	S114P	probably damaging	Het
Nrxn2	T	C	19: 6,491,521	S986P	probably damaging	Het
Olfr1246	A	T	2: 89,590,751	Y121*	probably null	Het
Olfr1453	T	G	19: 13,027,931	T133P	probably damaging	Het
Olfr25	A	T	9: 38,330,171	T195S	probably benign	Het
Olfr745	T	C	14: 50,643,004	V241A	possibly damaging	Het
Olfr767	A	G	10: 129,079,771	F64S	probably damaging	Het
Olfr920	G	A	9: 38,756,129	G147D	probably damaging	Het
Oprl1	T	C	2: 181,718,734		probably null	Het
Panx2	T	A	15: 89,068,407	I359N	probably damaging	Het
Pik3c2b	T	A	1: 133,077,396	V545E	probably damaging	Het
Piwil4	T	C	9: 14,727,452	N259S	probably benign	Het
Plcxd2	A	T	16: 45,980,556	F102I	probably damaging	Het
Pld5	A	T	1: 176,089,956	M75K	possibly damaging	Het
Pmp22	T	A	11: 63,151,103		probably benign	Het
Polr2a	A	G	11: 69,741,019	S1074P	possibly damaging	Het
Pop1	T	A	15: 34,526,206	V649E	possibly damaging	Het
Prc1	A	G	7: 80,313,102	N548S	probably damaging	Het
Prss51	T	C	14: 64,097,139	L202P	probably damaging	Het
Rhpn1	T	C	15: 75,713,579	S576P	possibly damaging	Het
Rictor	A	G	15: 6,708,642	D20G	probably benign	Het
Rpl13a-ps1	A	T	19: 50,030,206	L177*	probably null	Het
Rpl23a-ps1	T	G	1: 45,981,927		noncoding transcript	Het
Saa2	A	G	7: 46,753,478	D51G	probably damaging	Het
Sec31a	A	T	5: 100,404,118		probably benign	Het
Secisbp2	G	A	13: 51,683,325	E841K	possibly damaging	Het
Serinc1	A	G	10: 57,517,210	Y437H	probably damaging	Het
Slc39a12	A	T	2: 14,435,681	H481L	probably benign	Het
Suz12	T	A	11: 80,030,033	N586K	probably damaging	Het
Synm	T	C	7: 67,736,882	Y344C	possibly damaging	Het
Tas2r104	A	G	6: 131,685,341	V135A	probably benign	Het
Tdrd9	T	C	12: 112,068,239	S1371P	probably benign	Het
Tg	T	A	15: 66,828,533	D893E	probably benign	Het
Thoc5	C	A	11: 4,918,217	D423E	possibly damaging	Het
Trim11	G	A	11: 58,990,535	R418H	probably damaging	Het
Trim52	T	G	14: 106,106,965	V19G	probably damaging	Het
Tuba4a	C	A	1: 75,215,858	V371L	probably damaging	Het
Ugt8a	A	G	3: 125,914,957	V168A	probably benign	Het
Ulk1	C	T	5: 110,791,085	G496R	probably damaging	Het
Usp40	A	G	1: 87,946,598	*1236Q	probably null	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r24	A	G	6: 123,780,391		probably null	Het
Vmn2r53	A	G	7: 12,582,411	Y494H	probably damaging	Het
Vmn2r65	T	A	7: 84,946,234	D414V	probably benign	Het
Wdr26	A	T	1: 181,182,879	L519*	probably null	Het
Wnk1	A	G	6: 119,963,151	V173A	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp318	T	C	17: 46,396,708	S231P	probably damaging	Het
Zfp398	T	C	6: 47,865,848	V146A	probably benign	Het
Zfp410	T	C	12: 84,331,712	M270T	probably damaging	Het
Zfp445	A	T	9: 122,853,513	H454Q	possibly damaging	Het

Other mutations in Bbs7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Bbs7	APN	3	36575287	makesense	probably null
IGL01533:Bbs7	APN	3	36610235	missense	possibly damaging	0.66
IGL01559:Bbs7	APN	3	36594510	missense	probably damaging	1.00
IGL01793:Bbs7	APN	3	36605682	critical splice donor site	probably null
IGL01867:Bbs7	APN	3	36573547	missense	probably benign	0.21
IGL01955:Bbs7	APN	3	36610322	missense	probably benign	0.16
IGL02207:Bbs7	APN	3	36604490	missense	probably benign	0.10
IGL02212:Bbs7	APN	3	36594409	missense	probably benign
IGL02451:Bbs7	APN	3	36610592	missense	possibly damaging	0.94
IGL03267:Bbs7	APN	3	36573505	missense	probably damaging	1.00
R0010:Bbs7	UTSW	3	36607717	splice site	probably null
R0243:Bbs7	UTSW	3	36605734	missense	probably benign
R0326:Bbs7	UTSW	3	36592376	missense	possibly damaging	0.46
R0372:Bbs7	UTSW	3	36602832	missense	probably benign	0.00
R0398:Bbs7	UTSW	3	36590717	missense	probably benign
R0485:Bbs7	UTSW	3	36602873	missense	probably damaging	1.00
R0592:Bbs7	UTSW	3	36610297	missense	probably benign	0.05
R0619:Bbs7	UTSW	3	36607576	missense	probably benign	0.02
R0720:Bbs7	UTSW	3	36592423	missense	probably damaging	1.00
R0963:Bbs7	UTSW	3	36613263	missense	probably benign	0.22
R1177:Bbs7	UTSW	3	36610180	splice site	probably null
R1242:Bbs7	UTSW	3	36578427	missense	probably damaging	1.00
R1336:Bbs7	UTSW	3	36604444	missense	probably benign
R1401:Bbs7	UTSW	3	36573557	missense	probably benign	0.09
R1564:Bbs7	UTSW	3	36575795	missense	probably damaging	0.99
R2417:Bbs7	UTSW	3	36592397	missense	probably damaging	1.00
R3736:Bbs7	UTSW	3	36607670	missense	possibly damaging	0.87
R4282:Bbs7	UTSW	3	36573571	missense	probably damaging	1.00
R5412:Bbs7	UTSW	3	36599373	missense	probably benign
R5444:Bbs7	UTSW	3	36612050	missense	possibly damaging	0.50
R5932:Bbs7	UTSW	3	36582698	missense	probably benign	0.01
R6030:Bbs7	UTSW	3	36602911	missense	probably damaging	0.98
R6030:Bbs7	UTSW	3	36602911	missense	probably damaging	0.98
R6148:Bbs7	UTSW	3	36613266	missense	probably damaging	1.00
R6173:Bbs7	UTSW	3	36592374	nonsense	probably null
R6897:Bbs7	UTSW	3	36598311	missense	probably benign	0.07
R6912:Bbs7	UTSW	3	36605704	missense	probably benign	0.00
R7224:Bbs7	UTSW	3	36605728	missense	possibly damaging	0.48
R7268:Bbs7	UTSW	3	36604426	missense	probably benign
R7456:Bbs7	UTSW	3	36594378	missense	probably damaging	0.99
R7959:Bbs7	UTSW	3	36602936	missense	probably damaging	1.00
R8013:Bbs7	UTSW	3	36594387	missense	probably damaging	1.00
R8014:Bbs7	UTSW	3	36594387	missense	probably damaging	1.00
R8182:Bbs7	UTSW	3	36610223	missense	probably damaging	1.00
R8750:Bbs7	UTSW	3	36607595	missense	possibly damaging	0.95
R9040:Bbs7	UTSW	3	36575838	missense	probably benign	0.00
R9045:Bbs7	UTSW	3	36612035	missense	probably benign	0.00
R9729:Bbs7	UTSW	3	36607669	missense	probably damaging	1.00
R9798:Bbs7	UTSW	3	36598290	missense	probably benign	0.01
X0003:Bbs7	UTSW	3	36575845	nonsense	probably null
Z1177:Bbs7	UTSW	3	36602920	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCACCTGTAAGACTCGGAGCAC -3'
(R):5'- GAATCCTGACTTACCGTCCTTGCTG -3'

Sequencing Primer
(F):5'- CTTTTCCACAGGAAGGCAGA -3'
(R):5'- ACAGTCAGTTGCCTGTGCTT -3'

Posted On

2013-05-23