Mutagenetix > Incidental Mutation

Incidental Mutation 'R0453:Bbs7'

39748

Institutional Source

Beutler Lab

Gene Symbol

Bbs7

Ensembl Gene

ENSMUSG00000037325

Gene Name

Bardet-Biedl syndrome 7

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

36627291-36667626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36661818 bp (GRCm39)

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
Acad10	T	A	5: 121,765,445 (GRCm39)	K843*	probably null	Het
Adam26b	T	C	8: 43,973,387 (GRCm39)	I538M	probably benign	Het
Adamtsl1	T	C	4: 86,150,852 (GRCm39)	Y337H	probably damaging	Het
Ak7	T	C	12: 105,682,307 (GRCm39)	M156T	probably damaging	Het
Aldh3a1	A	G	11: 61,106,338 (GRCm39)	M238V	probably benign	Het
Asic4	T	A	1: 75,450,155 (GRCm39)		probably benign	Het
AW551984	A	G	9: 39,511,937 (GRCm39)	S25P	probably damaging	Het
Bco1	G	A	8: 117,835,516 (GRCm39)	E156K	possibly damaging	Het
Becn1	T	C	11: 101,181,275 (GRCm39)	D342G	probably damaging	Het
Birc6	T	A	17: 74,956,749 (GRCm39)	I3575N	probably damaging	Het
Brd10	T	C	19: 29,731,068 (GRCm39)	Y715C	probably damaging	Het
Cc2d2a	A	T	5: 43,860,636 (GRCm39)	M522L	probably benign	Het
Cerkl	A	G	2: 79,172,795 (GRCm39)	F293L	probably benign	Het
Chil3	T	G	3: 106,056,221 (GRCm39)	N311T	probably benign	Het
Cpeb2	T	A	5: 43,443,056 (GRCm39)		probably benign	Het
Cpxm2	A	G	7: 131,730,134 (GRCm39)	S162P	probably damaging	Het
Cracr2b	A	C	7: 141,044,176 (GRCm39)	E136A	probably damaging	Het
Cyp2a4	T	A	7: 26,012,258 (GRCm39)	M347K	probably benign	Het
Dicer1	C	A	12: 104,668,889 (GRCm39)	R1264S	probably benign	Het
Dlgap1	T	A	17: 71,068,341 (GRCm39)	N609K	probably benign	Het
Dnhd1	A	G	7: 105,323,651 (GRCm39)	T641A	probably benign	Het
Egfl8	T	C	17: 34,833,856 (GRCm39)	Y74C	probably damaging	Het
Esyt1	A	G	10: 128,348,078 (GRCm39)	S901P	probably benign	Het
Fam83e	A	T	7: 45,373,372 (GRCm39)	D246V	probably damaging	Het
Galnt2	T	C	8: 125,065,323 (GRCm39)		probably benign	Het
Hdc	A	G	2: 126,436,871 (GRCm39)		probably benign	Het
Herc1	A	C	9: 66,307,054 (GRCm39)	Q958P	probably benign	Het
Iqcg	T	A	16: 32,870,213 (GRCm39)		probably benign	Het
Iqub	A	T	6: 24,450,829 (GRCm39)	F590Y	probably damaging	Het
Jak2	T	C	19: 29,289,238 (GRCm39)	I1130T	probably benign	Het
Kbtbd11	G	A	8: 15,077,499 (GRCm39)	A33T	probably benign	Het
Kcnip4	A	G	5: 48,667,054 (GRCm39)	L37P	probably damaging	Het
Klk6	A	G	7: 43,477,963 (GRCm39)	N112D	probably damaging	Het
Kmt2c	G	A	5: 25,559,745 (GRCm39)	T1011I	probably damaging	Het
Knl1	A	T	2: 118,898,869 (GRCm39)	K190M	probably damaging	Het
Lama3	T	A	18: 12,598,535 (GRCm39)	S981T	possibly damaging	Het
Lrrc18	T	C	14: 32,730,608 (GRCm39)	L49P	probably damaging	Het
Lrrc31	T	C	3: 30,741,674 (GRCm39)	E245G	probably damaging	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Macf1	T	C	4: 123,338,737 (GRCm39)	I2456M	probably benign	Het
Mcm6	T	A	1: 128,261,292 (GRCm39)	T771S	probably benign	Het
Met	A	C	6: 17,534,197 (GRCm39)	Y680S	possibly damaging	Het
Mixl1	T	A	1: 180,524,211 (GRCm39)	T123S	probably damaging	Het
Myh8	A	T	11: 67,183,731 (GRCm39)	I787F	probably benign	Het
Myocd	A	G	11: 65,087,051 (GRCm39)	F292S	probably damaging	Het
Neb	T	C	2: 52,203,902 (GRCm39)		probably null	Het
Nfe2l1	A	G	11: 96,718,194 (GRCm39)	S114P	probably damaging	Het
Nrxn2	T	C	19: 6,541,551 (GRCm39)	S986P	probably damaging	Het
Oprl1	T	C	2: 181,360,527 (GRCm39)		probably null	Het
Or11h6	T	C	14: 50,880,461 (GRCm39)	V241A	possibly damaging	Het
Or4a73	A	T	2: 89,421,095 (GRCm39)	Y121*	probably null	Het
Or5b101	T	G	19: 13,005,295 (GRCm39)	T133P	probably damaging	Het
Or6c8	A	G	10: 128,915,640 (GRCm39)	F64S	probably damaging	Het
Or8b53	G	A	9: 38,667,425 (GRCm39)	G147D	probably damaging	Het
Or8c9	A	T	9: 38,241,467 (GRCm39)	T195S	probably benign	Het
Panx2	T	A	15: 88,952,610 (GRCm39)	I359N	probably damaging	Het
Pik3c2b	T	A	1: 133,005,134 (GRCm39)	V545E	probably damaging	Het
Piwil4	T	C	9: 14,638,748 (GRCm39)	N259S	probably benign	Het
Plcxd2	A	T	16: 45,800,919 (GRCm39)	F102I	probably damaging	Het
Pld5	A	T	1: 175,917,522 (GRCm39)	M75K	possibly damaging	Het
Pmp22	T	A	11: 63,041,929 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,631,845 (GRCm39)	S1074P	possibly damaging	Het
Pop1	T	A	15: 34,526,352 (GRCm39)	V649E	possibly damaging	Het
Prc1	A	G	7: 79,962,850 (GRCm39)	N548S	probably damaging	Het
Prss51	T	C	14: 64,334,588 (GRCm39)	L202P	probably damaging	Het
Rhpn1	T	C	15: 75,585,428 (GRCm39)	S576P	possibly damaging	Het
Rictor	A	G	15: 6,738,123 (GRCm39)	D20G	probably benign	Het
Rpl13a-ps1	A	T	19: 50,018,645 (GRCm39)	L177*	probably null	Het
Rpl23a-ps1	T	G	1: 46,021,087 (GRCm39)		noncoding transcript	Het
Saa2	A	G	7: 46,402,902 (GRCm39)	D51G	probably damaging	Het
Sec31a	A	T	5: 100,551,977 (GRCm39)		probably benign	Het
Secisbp2	G	A	13: 51,837,361 (GRCm39)	E841K	possibly damaging	Het
Serinc1	A	G	10: 57,393,306 (GRCm39)	Y437H	probably damaging	Het
Slc39a12	A	T	2: 14,440,492 (GRCm39)	H481L	probably benign	Het
Suz12	T	A	11: 79,920,859 (GRCm39)	N586K	probably damaging	Het
Synm	T	C	7: 67,386,630 (GRCm39)	Y344C	possibly damaging	Het
Tas2r104	A	G	6: 131,662,304 (GRCm39)	V135A	probably benign	Het
Tdrd9	T	C	12: 112,034,673 (GRCm39)	S1371P	probably benign	Het
Tg	T	A	15: 66,700,382 (GRCm39)	D893E	probably benign	Het
Thoc5	C	A	11: 4,868,217 (GRCm39)	D423E	possibly damaging	Het
Trim11	G	A	11: 58,881,361 (GRCm39)	R418H	probably damaging	Het
Trim52	T	G	14: 106,344,399 (GRCm39)	V19G	probably damaging	Het
Tuba4a	C	A	1: 75,192,502 (GRCm39)	V371L	probably damaging	Het
Ugt8a	A	G	3: 125,708,606 (GRCm39)	V168A	probably benign	Het
Ulk1	C	T	5: 110,938,951 (GRCm39)	G496R	probably damaging	Het
Usp40	A	G	1: 87,874,320 (GRCm39)	*1236Q	probably null	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r24	A	G	6: 123,757,350 (GRCm39)		probably null	Het
Vmn2r53	A	G	7: 12,316,338 (GRCm39)	Y494H	probably damaging	Het
Vmn2r65	T	A	7: 84,595,442 (GRCm39)	D414V	probably benign	Het
Wdr26	A	T	1: 181,010,444 (GRCm39)	L519*	probably null	Het
Wnk1	A	G	6: 119,940,112 (GRCm39)	V173A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp318	T	C	17: 46,707,634 (GRCm39)	S231P	probably damaging	Het
Zfp398	T	C	6: 47,842,782 (GRCm39)	V146A	probably benign	Het
Zfp410	T	C	12: 84,378,486 (GRCm39)	M270T	probably damaging	Het
Zfp445	A	T	9: 122,682,578 (GRCm39)	H454Q	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
R0326:Bbs7	UTSW	3	36,646,525 (GRCm39)	missense	possibly damaging	0.46
R0372:Bbs7	UTSW	3	36,656,981 (GRCm39)	missense	probably benign	0.00
R0398:Bbs7	UTSW	3	36,644,866 (GRCm39)	missense	probably benign
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'- CATCACCTGTAAGACTCGGAGCAC -3'
(R):5'- GAATCCTGACTTACCGTCCTTGCTG -3'

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

Posted On

2013-05-23