Mutagenetix > Incidental Mutation

Incidental Mutation 'R0243:Bbs7'

37833

Institutional Source

Beutler Lab

Gene Symbol

Bbs7

Ensembl Gene

ENSMUSG00000037325

Gene Name

Bardet-Biedl syndrome 7

Synonyms

8430406N16Rik

MMRRC Submission

038481-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0243 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

36627291-36667626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36659883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 184 (I184T)

Ref Sequence

ENSEMBL: ENSMUSP00000103791 (fasta)

Gene Model

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

AlphaFold

Q8K2G4

Predicted Effect

probably benign
Transcript: ENSMUST00000040148
AA Change: I184T

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

SMART Domains

Protein: ENSMUSP00000047273
Gene: ENSMUSG00000037325
AA Change: I184T

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: I184T

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

SMART Domains

Protein: ENSMUSP00000103790
Gene: ENSMUSG00000037325
AA Change: I184T

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: I184T

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

SMART Domains

Protein: ENSMUSP00000103791
Gene: ENSMUSG00000037325
AA Change: I184T

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

98% (148/151)

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	G	5: 64,055,806 (GRCm39)	Y181D	probably benign	Het
1700029H14Rik	A	G	8: 13,604,715 (GRCm39)	V196A	possibly damaging	Het
2410004B18Rik	A	G	3: 145,643,833 (GRCm39)	D7G	probably damaging	Het
Acap1	A	G	11: 69,776,252 (GRCm39)	V249A	probably damaging	Het
Acat2	A	T	17: 13,162,908 (GRCm39)	D313E	probably benign	Het
Actn4	T	C	7: 28,604,823 (GRCm39)	T325A	probably benign	Het
Adamdec1	C	T	14: 68,819,407 (GRCm39)		probably null	Het
Adat2	A	G	10: 13,429,037 (GRCm39)	T10A	probably benign	Het
Aff4	T	A	11: 53,288,685 (GRCm39)	S400R	possibly damaging	Het
Agbl2	C	T	2: 90,621,825 (GRCm39)	P104L	possibly damaging	Het
Alox12	G	T	11: 70,133,542 (GRCm39)	T594K	possibly damaging	Het
Als2	C	A	1: 59,254,546 (GRCm39)	K270N	probably benign	Het
Ankhd1	T	A	18: 36,767,787 (GRCm39)	C1235S	probably damaging	Het
Ankrd24	T	A	10: 81,470,778 (GRCm39)	I69N	probably damaging	Het
Aox4	G	A	1: 58,252,235 (GRCm39)	V37I	probably benign	Het
Arfgap3	A	G	15: 83,214,714 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,846,080 (GRCm39)		probably null	Het
Asic1	C	T	15: 99,596,498 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,366,057 (GRCm39)	N776S	probably benign	Het
Bbs9	A	T	9: 22,425,297 (GRCm39)	H117L	probably damaging	Het
Bnip2	T	C	9: 69,902,787 (GRCm39)	W10R	probably damaging	Het
Brd4	G	T	17: 32,443,097 (GRCm39)	Q175K	probably benign	Het
Bysl	A	T	17: 47,917,821 (GRCm39)	V124E	possibly damaging	Het
Cadm3	A	G	1: 173,174,140 (GRCm39)		probably benign	Het
Cc2d2a	T	C	5: 43,853,980 (GRCm39)		probably benign	Het
Ccdc134	G	T	15: 82,025,147 (GRCm39)	E215D	probably damaging	Het
Celsr3	G	T	9: 108,720,923 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 9,781,780 (GRCm39)	D428V	probably damaging	Het
Cog1	A	G	11: 113,547,821 (GRCm39)		probably benign	Het
Col11a2	G	T	17: 34,281,520 (GRCm39)		probably benign	Het
Cyp4f13	G	A	17: 33,143,943 (GRCm39)		probably benign	Het
Dffb	T	A	4: 154,049,835 (GRCm39)	K343*	probably null	Het
Dnah9	T	A	11: 65,802,678 (GRCm39)	I224F	possibly damaging	Het
Dolk	A	T	2: 30,176,031 (GRCm39)	C5S	probably benign	Het
Dynlt2b	A	G	16: 32,245,705 (GRCm39)	D118G	probably damaging	Het
Ebf1	A	T	11: 44,759,915 (GRCm39)		probably benign	Het
Elac1	A	G	18: 73,875,434 (GRCm39)	L199P	probably damaging	Het
Elmod1	A	C	9: 53,842,831 (GRCm39)		probably benign	Het
Ep400	A	C	5: 110,872,273 (GRCm39)		probably benign	Het
F10	A	T	8: 13,098,196 (GRCm39)	N133I	probably damaging	Het
Fasn	A	G	11: 120,706,141 (GRCm39)	Y1068H	probably benign	Het
Fbxo24	T	C	5: 137,622,819 (GRCm39)	E12G	probably damaging	Het
Fer	G	T	17: 64,385,941 (GRCm39)	L304F	probably benign	Het
Filip1	A	C	9: 79,726,285 (GRCm39)	L778R	probably damaging	Het
Fli1	A	T	9: 32,335,277 (GRCm39)	I385N	probably benign	Het
Fpgs	A	T	2: 32,582,506 (GRCm39)	L89*	probably null	Het
Gab2	T	G	7: 96,948,448 (GRCm39)	I346R	probably damaging	Het
Gm10764	G	A	10: 87,126,841 (GRCm39)	G83R	unknown	Het
Gpr83	G	T	9: 14,776,138 (GRCm39)	C153F	possibly damaging	Het
Gtf3c3	A	G	1: 54,442,695 (GRCm39)	L783P	possibly damaging	Het
Gys2	A	G	6: 142,418,394 (GRCm39)		probably benign	Het
Heatr9	C	T	11: 83,404,164 (GRCm39)	V378I	possibly damaging	Het
Helz	A	T	11: 107,528,740 (GRCm39)	Y920F	possibly damaging	Het
Inpp5f	A	T	7: 128,296,907 (GRCm39)	Q459L	probably damaging	Het
Ints12	T	C	3: 132,814,806 (GRCm39)	S338P	probably benign	Het
Kif13a	T	C	13: 46,944,827 (GRCm39)	T925A	probably benign	Het
Kif1a	C	T	1: 92,969,815 (GRCm39)	V1051I	probably damaging	Het
Kif7	T	A	7: 79,349,308 (GRCm39)	H1119L	possibly damaging	Het
Kmt2d	C	T	15: 98,748,018 (GRCm39)		probably benign	Het
Krt90	C	T	15: 101,471,110 (GRCm39)	G51S	possibly damaging	Het
Krtap31-2	A	T	11: 99,827,572 (GRCm39)	I135F	possibly damaging	Het
Lrp2	T	C	2: 69,258,974 (GRCm39)	E4572G	probably benign	Het
Mapk8ip1	T	C	2: 92,216,289 (GRCm39)	E493G	probably damaging	Het
Matk	T	G	10: 81,094,326 (GRCm39)	L28V	probably benign	Het
Mcc	T	A	18: 44,892,366 (GRCm39)	T83S	probably benign	Het
Mtch1	A	T	17: 29,559,080 (GRCm39)	M204K	possibly damaging	Het
Muc4	T	G	16: 32,586,120 (GRCm39)	C2622G	possibly damaging	Het
Myo5a	G	A	9: 75,093,405 (GRCm39)		probably null	Het
Myoz3	T	C	18: 60,712,023 (GRCm39)	Y185C	probably damaging	Het
Nnmt	A	G	9: 48,503,438 (GRCm39)	V196A	probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Nup214	T	A	2: 31,888,069 (GRCm39)		probably benign	Het
Or2aj4	T	G	16: 19,385,044 (GRCm39)	E196D	probably damaging	Het
Or2y13	T	C	11: 49,414,739 (GRCm39)	L63P	probably damaging	Het
Or4c126	T	A	2: 89,824,150 (GRCm39)	F138I	probably benign	Het
Pank3	T	C	11: 35,672,543 (GRCm39)		probably benign	Het
Parm1	A	T	5: 91,742,153 (GRCm39)	N174Y	possibly damaging	Het
Pcgf2	A	T	11: 97,583,244 (GRCm39)		probably null	Het
Pclo	A	T	5: 14,825,434 (GRCm39)	K4661M	unknown	Het
Pcsk7	A	C	9: 45,827,357 (GRCm39)	S375R	probably damaging	Het
Pdzrn4	G	T	15: 92,668,200 (GRCm39)	S784I	possibly damaging	Het
Pex6	T	A	17: 47,034,663 (GRCm39)		probably null	Het
Pi4ka	C	T	16: 17,115,499 (GRCm39)	V1384M	probably benign	Het
Polr3f	T	A	2: 144,378,195 (GRCm39)		probably benign	Het
Ppp2r3d	A	T	9: 101,089,483 (GRCm39)	V280E	probably damaging	Het
Prdm14	C	T	1: 13,192,672 (GRCm39)	G356R	probably damaging	Het
Prepl	A	G	17: 85,372,466 (GRCm39)		probably null	Het
Primpol	T	C	8: 47,052,849 (GRCm39)	D154G	probably damaging	Het
Ptchd4	A	C	17: 42,814,307 (GRCm39)	H736P	probably damaging	Het
Rab11fip1	A	G	8: 27,642,253 (GRCm39)	S849P	probably damaging	Het
Rap1gap	T	A	4: 137,446,662 (GRCm39)	D405E	probably damaging	Het
Rbm26	T	C	14: 105,369,374 (GRCm39)	T686A	probably benign	Het
Resf1	T	C	6: 149,227,739 (GRCm39)	Y262H	probably damaging	Het
Rint1	A	G	5: 24,021,930 (GRCm39)		probably benign	Het
Rnasek	G	T	11: 70,129,266 (GRCm39)	Y62*	probably null	Het
Rnf17	T	G	14: 56,719,541 (GRCm39)	N930K	possibly damaging	Het
Sap130	A	G	18: 31,813,734 (GRCm39)		probably benign	Het
Sectm1b	T	A	11: 120,946,611 (GRCm39)	I95F	probably damaging	Het
Sema4f	A	T	6: 82,916,447 (GRCm39)	I53N	possibly damaging	Het
Shld1	T	C	2: 132,592,559 (GRCm39)	V202A	probably benign	Het
Siglec1	T	C	2: 130,927,396 (GRCm39)	T137A	probably damaging	Het
Six5	A	C	7: 18,830,947 (GRCm39)		probably null	Het
Slc22a30	A	T	19: 8,322,721 (GRCm39)	I345N	probably benign	Het
Slc25a27	A	T	17: 43,954,518 (GRCm39)	M316K	probably benign	Het
Slc2a8	A	T	2: 32,870,116 (GRCm39)		probably benign	Het
Snx1	G	A	9: 66,008,608 (GRCm39)		probably benign	Het
Spag17	A	G	3: 99,992,684 (GRCm39)	T1727A	probably benign	Het
Spata20	T	C	11: 94,372,472 (GRCm39)	D633G	probably benign	Het
Spock1	C	T	13: 57,583,922 (GRCm39)		probably null	Het
Sra1	A	T	18: 36,808,759 (GRCm39)	Y291*	probably null	Het
Sspo	C	A	6: 48,470,120 (GRCm39)	P4520T	probably damaging	Het
Stat4	A	G	1: 52,051,016 (GRCm39)	N25S	probably benign	Het
Tbx18	A	T	9: 87,597,569 (GRCm39)		probably benign	Het
Tep1	T	A	14: 51,084,444 (GRCm39)	I187F	probably damaging	Het
Tfap2b	A	T	1: 19,304,347 (GRCm39)	I368F	probably damaging	Het
Tmtc1	A	T	6: 148,148,335 (GRCm39)	L711Q	probably damaging	Het
Tmx3	T	A	18: 90,556,613 (GRCm39)		probably benign	Het
Tnc	G	T	4: 63,888,657 (GRCm39)	T1803K	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tpgs1	C	T	10: 79,511,700 (GRCm39)	P281S	probably benign	Het
Trim45	A	G	3: 100,837,160 (GRCm39)	R499G	probably benign	Het
Tulp3	A	T	6: 128,302,921 (GRCm39)	Y299*	probably null	Het
Ube4a	A	T	9: 44,857,476 (GRCm39)		probably benign	Het
Ubr3	T	G	2: 69,781,749 (GRCm39)	S642R	probably damaging	Het
Vcpip1	A	T	1: 9,817,431 (GRCm39)	Y317*	probably null	Het
Vmn1r115	G	A	7: 20,578,327 (GRCm39)	T195I	probably benign	Het
Vmn1r226	G	A	17: 20,907,839 (GRCm39)	V24I	probably benign	Het
Wdr41	C	T	13: 95,153,914 (GRCm39)	A321V	probably damaging	Het
Wfdc5	T	C	2: 164,020,755 (GRCm39)	N44D	probably benign	Het
Wnt7b	C	A	15: 85,443,103 (GRCm39)		probably null	Het
Zfp108	T	C	7: 23,961,208 (GRCm39)	S600P	possibly damaging	Het
Zfp267	A	G	3: 36,219,303 (GRCm39)	H442R	possibly damaging	Het
Zfp385b	A	G	2: 77,246,072 (GRCm39)		probably null	Het
Zfp395	T	C	14: 65,623,929 (GRCm39)	S133P	probably benign	Het
Zfp407	T	A	18: 84,576,836 (GRCm39)	M1426L	probably damaging	Het
Zfp641	T	G	15: 98,187,008 (GRCm39)	N191T	possibly damaging	Het
Zfp687	T	C	3: 94,918,864 (GRCm39)	S303G	probably damaging	Het
Zfp759	T	A	13: 67,286,877 (GRCm39)	F143I	possibly damaging	Het
Zgrf1	G	C	3: 127,409,095 (GRCm39)	E1690Q	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
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
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'- GTGAAGCGTATTCCCTACAGGTGAC -3'
(R):5'- AGCCAGAGTTTTCTTACGAGCAGC -3'

Sequencing Primer
(F):5'- TCCCTACAGGTGACTTCAAGATG -3'
(R):5'- GTTAGAAATGTCAACACTCCTCTGTC -3'

Posted On

2013-05-23