Mutagenetix > Incidental Mutation

Incidental Mutation 'R2015:Bbs10'

222860

Institutional Source

Beutler Lab

Gene Symbol

Bbs10

Ensembl Gene

ENSMUSG00000035759

Gene Name

Bardet-Biedl syndrome 10 (human)

Synonyms

MMRRC Submission

040024-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111298679-111301727 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 111300855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 610 (Q610*)

Ref Sequence

ENSEMBL: ENSMUSP00000049387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040454] [ENSMUST00000105275]

AlphaFold

Q9DBI2

Predicted Effect

probably null
Transcript: ENSMUST00000040454
AA Change: Q610*

SMART Domains

Protein: ENSMUSP00000049387
Gene: ENSMUSG00000035759
AA Change: Q610*

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	17	103	3.6e-15	PFAM
Pfam:Cpn60_TCP1	139	427	1.1e-7	PFAM
SCOP:d1a6da1	567	695	3e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105275

SMART Domains

Protein: ENSMUSP00000100911
Gene: ENSMUSG00000020189

Domain	Start	End	E-Value	Type
low complexity region	85	101	N/A	INTRINSIC
coiled coil region	113	144	N/A	INTRINSIC
PH	149	267	3.65e-16	SMART
Pfam:Oxysterol_BP	406	752	4.6e-91	PFAM
coiled coil region	831	853	N/A	INTRINSIC
transmembrane domain	871	888	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219990

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele develop obesity, hyperleptinemia, retinal degeneration, structural defects in renal glomeruli, microalbuminuria, polyuria, increased circulating antidiuretic hormone levels, and vacuolated renal epithelial cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	A	11: 101,987,218	H35Q	probably damaging	Het
1700015F17Rik	T	A	5: 5,455,964	I106L	probably benign	Het
Abca9	A	T	11: 110,131,846	M1022K	probably benign	Het
Abhd4	T	A	14: 54,262,832	H74Q	probably damaging	Het
Actg1	A	G	11: 120,346,810	S49P	possibly damaging	Het
Adcy8	C	T	15: 64,767,878	G678S	probably benign	Het
Aire	T	C	10: 78,042,958	D85G	probably damaging	Het
Akr1c18	T	A	13: 4,145,309	D50V	probably damaging	Het
Ankrd13a	C	A	5: 114,792,109	A185E	probably damaging	Het
Apc	A	G	18: 34,315,591	I1813V	probably damaging	Het
Armc8	A	T	9: 99,483,105	C661*	probably null	Het
Blm	T	C	7: 80,502,399	E600G	probably damaging	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
Cdk14	T	C	5: 5,380,082	K15R	probably benign	Het
Cdr1	A	G	X: 61,184,814	F249L	probably benign	Het
Cep250	A	C	2: 155,981,453	H1009P	probably damaging	Het
Clasp2	A	G	9: 113,911,500	T495A	possibly damaging	Het
Col19a1	C	G	1: 24,559,753	G53A	unknown	Het
Cpne1	G	A	2: 156,078,388	R166C	probably damaging	Het
Dtx3l	G	A	16: 35,936,427	H129Y	probably benign	Het
Ercc3	A	G	18: 32,248,429	T433A	probably benign	Het
Gm9936	T	A	5: 114,857,421		probably benign	Het
Grina	T	C	15: 76,248,534	V167A	probably damaging	Het
Hcfc2	A	G	10: 82,738,980	N618D	probably benign	Het
Herpud1	T	C	8: 94,392,206	V196A	probably benign	Het
Hist3h2a	T	A	11: 58,954,928	L64Q	probably damaging	Het
Hlcs	A	G	16: 94,262,740	V487A	probably benign	Het
Hspa9	A	T	18: 34,946,648	Y243N	probably damaging	Het
Igll1	A	G	16: 16,863,775	S39P	probably benign	Het
Kdm5a	T	C	6: 120,431,990	S1545P	probably benign	Het
Klra8	C	A	6: 130,115,573	C255F	probably damaging	Het
Krtap4-6	A	T	11: 99,665,572	C110S	unknown	Het
Lef1	T	A	3: 131,111,587	I39N	probably damaging	Het
Lnpep	G	A	17: 17,579,063	T110I	probably damaging	Het
Lrp1	T	A	10: 127,540,694	T4282S	probably benign	Het
Lrp6	A	G	6: 134,480,374		probably null	Het
Ly6g5b	A	C	17: 35,114,678	S53A	possibly damaging	Het
M6pr	T	G	6: 122,313,373	N98K	probably damaging	Het
Mal2	T	C	15: 54,600,740	*176Q	probably null	Het
Mansc1	T	C	6: 134,610,311	D301G	possibly damaging	Het
March1	C	A	8: 66,121,821	N11K	probably damaging	Het
Mast3	T	A	8: 70,787,363	I338F	probably benign	Het
Mcm3	A	G	1: 20,803,580	L772P	probably damaging	Het
Mib2	C	T	4: 155,657,880	G176D	probably damaging	Het
Mier2	A	T	10: 79,541,202		probably null	Het
Mogs	C	T	6: 83,117,650	R483*	probably null	Het
Msl2	G	T	9: 101,075,251		probably benign	Het
Naa16	A	T	14: 79,345,059	M530K	probably damaging	Het
Nde1	A	T	16: 14,169,457		probably benign	Het
Ndufb10	T	C	17: 24,722,529		probably null	Het
Nhsl1	A	T	10: 18,511,592	R205W	probably damaging	Het
Npffr2	T	A	5: 89,582,892	I227N	probably damaging	Het
Nup210l	T	A	3: 90,185,432	L1231Q	probably damaging	Het
Olfr1355	T	C	10: 78,879,388	I72T	possibly damaging	Het
Olfr453	A	G	6: 42,744,850	E271G	probably damaging	Het
Pclo	C	A	5: 14,521,501	P300Q	probably damaging	Het
Pik3c2a	T	A	7: 116,350,931		probably null	Het
Plekha5	T	A	6: 140,534,564		probably null	Het
Pls1	A	G	9: 95,761,365	V527A	possibly damaging	Het
Ppfia2	T	C	10: 106,474,677	M15T	probably benign	Het
Prkd2	T	A	7: 16,847,677	C152*	probably null	Het
Ptprq	T	G	10: 107,667,422	K792Q	probably damaging	Het
Rbbp8	T	C	18: 11,720,624	M296T	probably benign	Het
Rfc3	T	C	5: 151,647,538		probably null	Het
Rnf17	A	G	14: 56,486,969	N1090S	probably benign	Het
Sash1	A	T	10: 8,729,413	V1071D	probably benign	Het
Sdsl	G	A	5: 120,463,153	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,647,624	Q365L	probably benign	Het
Sgta	A	T	10: 81,051,296	V45E	probably damaging	Het
Slc25a46	A	T	18: 31,609,725	H29Q	probably benign	Het
Slc2a8	A	C	2: 32,981,380	V136G	probably benign	Het
Smg7	A	T	1: 152,860,508	N166K	probably damaging	Het
Spata21	C	T	4: 141,107,329	Q505*	probably null	Het
Strn4	T	C	7: 16,833,028	S458P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,299,684	T248M	probably damaging	Het
Trabd	T	A	15: 89,084,726	M149K	possibly damaging	Het
Trpv3	A	T	11: 73,279,827	N178Y	probably damaging	Het
Try5	C	T	6: 41,314,651		probably null	Het
Tsg101	C	T	7: 46,908,904		probably null	Het
Ube3b	A	G	5: 114,411,149	E738G	probably damaging	Het
Unc13d	A	G	11: 116,068,755	S631P	probably damaging	Het
Unc5d	T	C	8: 28,758,979	T297A	probably damaging	Het
Usp18	A	T	6: 121,268,550	E1V	probably damaging	Het
Vapb	C	A	2: 173,771,598	P97T	probably benign	Het
Vmn1r33	T	A	6: 66,612,372	D66V	probably benign	Het
Vmn2r19	T	A	6: 123,315,995	M332K	probably benign	Het
Vmn2r71	T	A	7: 85,620,637	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,142	S1074P	probably damaging	Het
Vwde	C	A	6: 13,208,338	G182C	possibly damaging	Het
Wdfy3	A	C	5: 101,860,486	S2778A	probably null	Het
Zbtb2	T	A	10: 4,369,757	I90F	possibly damaging	Het
Zfp518b	C	A	5: 38,672,002	V887F	probably benign	Het
Zfp790	A	G	7: 29,828,861	T324A	probably benign	Het
Zufsp	A	G	10: 33,929,824	V437A	possibly damaging	Het

Other mutations in Bbs10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
chalky	UTSW	10	111299761	missense	probably damaging	1.00
wampum	UTSW	10	111300013	missense	probably damaging	1.00
R0097:Bbs10	UTSW	10	111298844	missense	probably damaging	1.00
R0117:Bbs10	UTSW	10	111299333	missense	possibly damaging	0.94
R0189:Bbs10	UTSW	10	111301065	missense	probably damaging	1.00
R0373:Bbs10	UTSW	10	111300052	missense	probably damaging	1.00
R0761:Bbs10	UTSW	10	111299383	missense	probably damaging	1.00
R1319:Bbs10	UTSW	10	111298874	missense	probably damaging	1.00
R1986:Bbs10	UTSW	10	111299257	missense	probably damaging	1.00
R2361:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R3716:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R3717:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R4407:Bbs10	UTSW	10	111299859	missense	probably benign	0.00
R4583:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R4607:Bbs10	UTSW	10	111300820	missense	probably damaging	0.99
R4607:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R4608:Bbs10	UTSW	10	111300820	missense	probably damaging	0.99
R4608:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R4609:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R4646:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R4647:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R4648:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R4730:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R4822:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R4832:Bbs10	UTSW	10	111301134	missense	probably benign	0.02
R5056:Bbs10	UTSW	10	111300540	missense	probably benign	0.00
R6285:Bbs10	UTSW	10	111299761	missense	probably damaging	1.00
R6604:Bbs10	UTSW	10	111301104	missense	possibly damaging	0.51
R7120:Bbs10	UTSW	10	111299449	missense	possibly damaging	0.74
R7174:Bbs10	UTSW	10	111300767	nonsense	probably null
R7376:Bbs10	UTSW	10	111299250	missense	probably benign	0.08
R7701:Bbs10	UTSW	10	111300013	missense	probably damaging	1.00
R8146:Bbs10	UTSW	10	111300535	missense	probably benign	0.05
R8260:Bbs10	UTSW	10	111300243	nonsense	probably null
R8832:Bbs10	UTSW	10	111300405	nonsense	probably null
R9656:Bbs10	UTSW	10	111299684	missense	probably benign	0.08
Z1176:Bbs10	UTSW	10	111298908	critical splice donor site	probably null
Z1176:Bbs10	UTSW	10	111299657	missense	probably benign	0.26
Z1176:Bbs10	UTSW	10	111301124	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTACAGCAGAAGACACTGG -3'
(R):5'- ACTGACTCGAACCCTGATTGAC -3'

Sequencing Primer
(F):5'- TTCGAACACTTACAGGTCTCAG -3'
(R):5'- GATTGACCACTTACCATGGGTTGAC -3'

Posted On

2014-08-25