Mutagenetix > Incidental Mutation

Incidental Mutation 'R0398:Bbs7'

32109

Institutional Source

Beutler Lab

Gene Symbol

Bbs7

Ensembl Gene

ENSMUSG00000037325

Gene Name

Bardet-Biedl syndrome 7

Synonyms

8430406N16Rik

MMRRC Submission

038603-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36627291-36667626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36644866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 436 (S436P)

Ref Sequence

ENSEMBL: ENSMUSP00000103791 (fasta)

Gene Model

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

AlphaFold

Q8K2G4

Predicted Effect

probably benign
Transcript: ENSMUST00000040148
AA Change: S436P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047273
Gene: ENSMUSG00000037325
AA Change: S436P

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: S436P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103790
Gene: ENSMUSG00000037325
AA Change: S436P

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: S436P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103791
Gene: ENSMUSG00000037325
AA Change: S436P

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

Meta Mutation Damage Score

0.0580

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 83.2%

Validation Efficiency

100% (81/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,117,010 (GRCm39)	Q546R	probably null	Het
Acr	T	G	15: 89,458,144 (GRCm39)	V275G	probably damaging	Het
Adam5	A	G	8: 25,303,448 (GRCm39)	Y160H	probably benign	Het
Adcy5	T	A	16: 35,089,438 (GRCm39)	M545K	probably damaging	Het
Aoc2	A	G	11: 101,216,379 (GRCm39)	E154G	possibly damaging	Het
Atg2a	T	G	19: 6,296,608 (GRCm39)	L338R	probably damaging	Het
Atp2a1	T	C	7: 126,049,590 (GRCm39)		probably benign	Het
Bpnt1	T	C	1: 185,070,355 (GRCm39)	Y16H	probably benign	Het
Cbll1	A	T	12: 31,542,091 (GRCm39)	F90Y	probably damaging	Het
Cbs	G	T	17: 31,836,216 (GRCm39)	Q411K	probably benign	Het
Cdca2	A	C	14: 67,935,411 (GRCm39)	F435V	probably damaging	Het
Cdh13	T	G	8: 120,040,786 (GRCm39)	S664A	probably damaging	Het
Cdk17	T	A	10: 93,073,702 (GRCm39)	V438E	probably benign	Het
Cep295	T	C	9: 15,266,032 (GRCm39)	D40G	possibly damaging	Het
Col6a1	T	C	10: 76,545,952 (GRCm39)	H840R	unknown	Het
Cpa1	A	G	6: 30,645,250 (GRCm39)	T409A	probably benign	Het
Crlf1	G	A	8: 70,951,739 (GRCm39)		probably benign	Het
E2f2	T	A	4: 135,907,855 (GRCm39)	I184N	probably damaging	Het
Ehbp1	T	C	11: 22,045,886 (GRCm39)	D596G	probably damaging	Het
Elapor2	A	G	5: 9,495,367 (GRCm39)	R724G	probably benign	Het
Ets2	A	G	16: 95,517,267 (GRCm39)	Y333C	probably damaging	Het
Fam178b	A	G	1: 36,671,487 (GRCm39)		probably benign	Het
Fndc3b	A	G	3: 27,515,928 (GRCm39)	V626A	probably benign	Het
Gart	G	T	16: 91,436,337 (GRCm39)	A140E	probably damaging	Het
Gbp7	T	C	3: 142,251,274 (GRCm39)	S477P	possibly damaging	Het
Gm16380	T	C	9: 53,791,453 (GRCm39)		noncoding transcript	Het
Hmcn1	C	A	1: 150,674,565 (GRCm39)	R579M	possibly damaging	Het
Hoxb8	A	C	11: 96,173,937 (GRCm39)	H50P	probably damaging	Het
Hspa4	C	T	11: 53,163,706 (GRCm39)		probably null	Het
Hspa4l	G	A	3: 40,711,429 (GRCm39)		probably benign	Het
Hyal4	A	T	6: 24,756,670 (GRCm39)	Y296F	probably damaging	Het
Igsf8	C	A	1: 172,145,066 (GRCm39)	T131K	probably damaging	Het
Ilvbl	C	T	10: 78,415,373 (GRCm39)	P298L	probably damaging	Het
Jak2	T	A	19: 29,259,788 (GRCm39)	I229N	possibly damaging	Het
Kif1b	T	C	4: 149,288,688 (GRCm39)	D1205G	possibly damaging	Het
Lrrc63	T	C	14: 75,363,910 (GRCm39)	R74G	probably benign	Het
Lvrn	A	G	18: 47,013,760 (GRCm39)	T481A	probably benign	Het
Macf1	T	A	4: 123,244,810 (GRCm39)	T7312S	probably damaging	Het
Magel2	C	T	7: 62,030,299 (GRCm39)	Q1068*	probably null	Het
Mrpl3	A	G	9: 104,941,302 (GRCm39)	Y203C	probably damaging	Het
Nek2	T	A	1: 191,559,473 (GRCm39)	I326N	probably benign	Het
Nlrc4	A	C	17: 74,752,915 (GRCm39)	N489K	probably damaging	Het
Nlrp4f	A	T	13: 65,342,732 (GRCm39)	S304R	possibly damaging	Het
Ogfr	C	G	2: 180,235,492 (GRCm39)	R189G	probably damaging	Het
Or52b4i	T	A	7: 102,191,899 (GRCm39)	L252H	probably damaging	Het
Or5p78	T	A	7: 108,212,162 (GRCm39)	I216N	probably benign	Het
Or5w8	A	T	2: 87,688,401 (GRCm39)	N294I	probably damaging	Het
Orm3	A	G	4: 63,275,885 (GRCm39)	S145G	probably benign	Het
Pclo	A	G	5: 14,731,716 (GRCm39)	E3406G	unknown	Het
Pcx	T	G	19: 4,651,638 (GRCm39)	F4C	probably benign	Het
Pgd	C	A	4: 149,238,339 (GRCm39)	G364V	probably damaging	Het
Pla2g12a	C	A	3: 129,684,045 (GRCm39)	D102E	probably benign	Het
Pnpo	A	T	11: 96,833,253 (GRCm39)	C82*	probably null	Het
Prdm1	T	C	10: 44,315,805 (GRCm39)	N792S	probably damaging	Het
Prim2	A	T	1: 33,523,757 (GRCm39)		probably benign	Het
Proca1	C	A	11: 78,096,094 (GRCm39)	P242Q	probably benign	Het
Psmc5	A	G	11: 106,152,370 (GRCm39)	N129S	probably benign	Het
Ptchd4	A	G	17: 42,688,150 (GRCm39)	T231A	possibly damaging	Het
Qrfpr	C	T	3: 36,235,201 (GRCm39)		probably benign	Het
Rab44	G	A	17: 29,364,344 (GRCm39)		probably benign	Het
Racgap1	T	C	15: 99,526,508 (GRCm39)		probably benign	Het
Rapgef4	A	G	2: 71,861,385 (GRCm39)	E25G	probably damaging	Het
Rpl8	G	C	15: 76,789,246 (GRCm39)		probably benign	Het
Samd12	G	A	15: 53,583,116 (GRCm39)	P73S	possibly damaging	Het
Samd9l	T	A	6: 3,374,502 (GRCm39)	N920Y	probably damaging	Het
Sdk1	T	C	5: 141,948,476 (GRCm39)	V607A	probably benign	Het
Slc25a19	A	G	11: 115,508,401 (GRCm39)	Y196H	probably damaging	Het
Slc39a3	A	T	10: 80,869,621 (GRCm39)	M12K	possibly damaging	Het
Slc5a4a	T	C	10: 76,018,556 (GRCm39)	I501T	possibly damaging	Het
Sp4	A	T	12: 118,262,408 (GRCm39)	V546D	possibly damaging	Het
Ssh3	C	T	19: 4,313,727 (GRCm39)	V511M	possibly damaging	Het
Stard9	T	G	2: 120,526,788 (GRCm39)	V1015G	probably benign	Het
Thoc5	G	T	11: 4,871,978 (GRCm39)	V516F	possibly damaging	Het
Ttc21a	T	A	9: 119,783,628 (GRCm39)	I570N	probably damaging	Het
Ttc4	T	C	4: 106,524,770 (GRCm39)		probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Yipf3	A	G	17: 46,562,411 (GRCm39)	E298G	possibly damaging	Het
Zbtb34	C	A	2: 33,301,060 (GRCm39)	E494*	probably null	Het
Zfhx3	A	G	8: 109,677,878 (GRCm39)	Y2976C	probably 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
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'- ATCACATGTAAGACGCACCAAAGGAA -3'
(R):5'- CCCTCCCCAGTGAAATAACAGCAAGT -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- tgcttgcatgaacaaagcc -3'

Posted On

2013-04-24