Mutagenetix > Incidental Mutation

Incidental Mutation 'R4608:Bbs10'

350898

Institutional Source

Beutler Lab

Gene Symbol

Bbs10

Ensembl Gene

ENSMUSG00000035759

Gene Name

Bardet-Biedl syndrome 10

Synonyms

1300007O09Rik

MMRRC Submission

041819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111134540-111137588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 111136681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 598 (I598S)

Ref Sequence

ENSEMBL: ENSMUSP00000049387 (fasta)

Gene Model

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

AlphaFold

Q9DBI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000040454
AA Change: I598S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049387
Gene: ENSMUSG00000035759
AA Change: I598S

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

Meta Mutation Damage Score

0.4320

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,308,855 (GRCm39)	I74V	unknown	Het
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adam10	T	C	9: 70,651,173 (GRCm39)	L66P	probably damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,531,183 (GRCm39)	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
F5	C	T	1: 164,036,598 (GRCm39)	P1920S	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gckr	A	G	5: 31,465,141 (GRCm39)	D370G	probably damaging	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Ints9	T	A	14: 65,269,729 (GRCm39)	I473N	possibly damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Nxf1	A	G	19: 8,740,127 (GRCm39)	D98G	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Pms1	T	A	1: 53,234,097 (GRCm39)	R806S	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	probably benign	Het

Other mutations in Bbs10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
chalky	UTSW	10	111,135,622 (GRCm39)	missense	probably damaging	1.00
wampum	UTSW	10	111,135,874 (GRCm39)	missense	probably damaging	1.00
R0097:Bbs10	UTSW	10	111,134,705 (GRCm39)	missense	probably damaging	1.00
R0117:Bbs10	UTSW	10	111,135,194 (GRCm39)	missense	possibly damaging	0.94
R0189:Bbs10	UTSW	10	111,136,926 (GRCm39)	missense	probably damaging	1.00
R0373:Bbs10	UTSW	10	111,135,913 (GRCm39)	missense	probably damaging	1.00
R0761:Bbs10	UTSW	10	111,135,244 (GRCm39)	missense	probably damaging	1.00
R1319:Bbs10	UTSW	10	111,134,735 (GRCm39)	missense	probably damaging	1.00
R1986:Bbs10	UTSW	10	111,135,118 (GRCm39)	missense	probably damaging	1.00
R2015:Bbs10	UTSW	10	111,136,716 (GRCm39)	nonsense	probably null
R2361:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R3716:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R3717:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R4407:Bbs10	UTSW	10	111,135,720 (GRCm39)	missense	probably benign	0.00
R4583:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R4607:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R4607:Bbs10	UTSW	10	111,136,681 (GRCm39)	missense	probably damaging	0.99
R4608:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R4609:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R4646:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R4647:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R4648:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R4730:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R4822:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R4832:Bbs10	UTSW	10	111,136,995 (GRCm39)	missense	probably benign	0.02
R5056:Bbs10	UTSW	10	111,136,401 (GRCm39)	missense	probably benign	0.00
R6285:Bbs10	UTSW	10	111,135,622 (GRCm39)	missense	probably damaging	1.00
R6604:Bbs10	UTSW	10	111,136,965 (GRCm39)	missense	possibly damaging	0.51
R7120:Bbs10	UTSW	10	111,135,310 (GRCm39)	missense	possibly damaging	0.74
R7174:Bbs10	UTSW	10	111,136,628 (GRCm39)	nonsense	probably null
R7376:Bbs10	UTSW	10	111,135,111 (GRCm39)	missense	probably benign	0.08
R7701:Bbs10	UTSW	10	111,135,874 (GRCm39)	missense	probably damaging	1.00
R8146:Bbs10	UTSW	10	111,136,396 (GRCm39)	missense	probably benign	0.05
R8260:Bbs10	UTSW	10	111,136,104 (GRCm39)	nonsense	probably null
R8832:Bbs10	UTSW	10	111,136,266 (GRCm39)	nonsense	probably null
R9656:Bbs10	UTSW	10	111,135,545 (GRCm39)	missense	probably benign	0.08
Z1176:Bbs10	UTSW	10	111,136,985 (GRCm39)	missense	probably damaging	1.00
Z1176:Bbs10	UTSW	10	111,135,518 (GRCm39)	missense	probably benign	0.26
Z1176:Bbs10	UTSW	10	111,134,769 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCCTACAGCAGAAGACACTGG -3'
(R):5'- GACTCGAACCCTGATTGACCAC -3'

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

Posted On

2015-10-08