Mutagenetix > Incidental Mutation

Incidental Mutation 'R4822:Bbs10'

371226

Institutional Source

Beutler Lab

Gene Symbol

Bbs10

Ensembl Gene

ENSMUSG00000035759

Gene Name

Bardet-Biedl syndrome 10

Synonyms

1300007O09Rik

MMRRC Submission

042438-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111134540-111137588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111136995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 703 (K703E)

Ref Sequence

ENSEMBL: ENSMUSP00000049387 (fasta)

Gene Model

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

AlphaFold

Q9DBI2

Predicted Effect

probably benign
Transcript: ENSMUST00000040454
AA Change: K703E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000049387
Gene: ENSMUSG00000035759
AA Change: K703E

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

0.0595

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (101/103)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	C	T	14: 70,393,907 (GRCm39)	V243I	probably benign	Het
Acadvl	C	T	11: 69,902,010 (GRCm39)	G485S	probably benign	Het
Acap3	T	A	4: 155,986,908 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,023,356 (GRCm39)	I250M	probably damaging	Het
Amacr	T	A	15: 10,983,496 (GRCm39)	I102N	probably damaging	Het
Apob	A	G	12: 8,065,741 (GRCm39)	T4237A	probably benign	Het
Bicd1	A	T	6: 149,420,752 (GRCm39)		probably benign	Het
Caskin2	T	A	11: 115,698,125 (GRCm39)	E49V	probably damaging	Het
Cemip	T	A	7: 83,622,449 (GRCm39)	I577F	probably benign	Het
Chrnb1	T	C	11: 69,686,501 (GRCm39)	S40G	possibly damaging	Het
Ctif	C	T	18: 75,654,632 (GRCm39)	C298Y	probably benign	Het
Cul9	A	C	17: 46,840,977 (GRCm39)	H764Q	probably benign	Het
Cwf19l2	T	A	9: 3,458,839 (GRCm39)	C763S	probably damaging	Het
Dhx57	A	T	17: 80,549,596 (GRCm39)		probably null	Het
Dnaaf10	T	A	11: 17,177,165 (GRCm39)	N174K	probably damaging	Het
Dnhd1	G	A	7: 105,353,171 (GRCm39)	D2775N	probably benign	Het
Enpp1	A	T	10: 24,537,833 (GRCm39)	M384K	possibly damaging	Het
Fat2	T	C	11: 55,202,144 (GRCm39)	N310S	probably benign	Het
Fbxw7	A	T	3: 84,874,814 (GRCm39)	Y232F	possibly damaging	Het
Fcamr	T	A	1: 130,740,423 (GRCm39)	S281T	possibly damaging	Het
Gm10762	C	T	2: 128,809,106 (GRCm39)	W81*	probably null	Het
Gm5592	A	G	7: 40,805,314 (GRCm39)		probably benign	Het
Gm5745	T	C	9: 73,082,980 (GRCm39)		noncoding transcript	Het
Gm6185	G	C	1: 161,040,824 (GRCm39)		noncoding transcript	Het
Hid1	T	A	11: 115,246,125 (GRCm39)	N382Y	probably damaging	Het
Hoxa10	A	T	6: 52,209,569 (GRCm39)	F68I	probably damaging	Het
Ift88	T	A	14: 57,679,326 (GRCm39)		probably null	Het
Ighg2b	A	T	12: 113,270,011 (GRCm39)	*336R	probably null	Het
Ighv7-2	A	C	12: 113,875,892 (GRCm39)	L37R	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn3	G	C	3: 89,574,596 (GRCm39)	V703L	possibly damaging	Het
Kiz	C	A	2: 146,732,989 (GRCm39)	S388R	probably damaging	Het
Klhl20	G	A	1: 160,921,333 (GRCm39)	Q41*	probably null	Het
Krt31	T	C	11: 99,938,610 (GRCm39)	I328V	possibly damaging	Het
Lama4	A	T	10: 38,909,049 (GRCm39)	I330L	probably benign	Het
Lipo2	A	T	19: 33,723,151 (GRCm39)	S213T	probably benign	Het
Lrsam1	A	T	2: 32,816,804 (GRCm39)	I723N	probably damaging	Het
Man2b2	G	A	5: 36,972,865 (GRCm39)	R550W	probably damaging	Het
Map4k5	A	T	12: 69,888,758 (GRCm39)	L224*	probably null	Het
Mast3	A	G	8: 71,233,010 (GRCm39)	S1101P	probably damaging	Het
Mertk	A	G	2: 128,643,225 (GRCm39)	S875G	probably benign	Het
Mmel1	A	G	4: 154,972,354 (GRCm39)	M302V	probably benign	Het
Mrgpra3	T	A	7: 47,239,716 (GRCm39)	H70L	possibly damaging	Het
Myh3	T	A	11: 66,979,836 (GRCm39)	S592T	probably benign	Het
Nbeal2	T	C	9: 110,465,383 (GRCm39)	I451V	possibly damaging	Het
Nup155	T	A	15: 8,158,010 (GRCm39)	V489D	possibly damaging	Het
Obscn	T	A	11: 58,913,159 (GRCm39)	T6300S	probably benign	Het
Oprm1	A	G	10: 6,779,036 (GRCm39)	I146V	probably damaging	Het
Or1ad1	T	A	11: 50,875,910 (GRCm39)	C127*	probably null	Het
Or1j4	A	G	2: 36,740,888 (GRCm39)	M277V	probably benign	Het
Or4k44	G	T	2: 111,367,797 (GRCm39)	T279K	probably damaging	Het
Or5ae1	A	C	7: 84,565,634 (GRCm39)	I216L	possibly damaging	Het
Otub1	A	T	19: 7,181,794 (GRCm39)	D27E	probably damaging	Het
Pik3ca	T	C	3: 32,492,131 (GRCm39)	V243A	probably benign	Het
Pla2g12b	G	A	10: 59,252,336 (GRCm39)		probably null	Het
Plekha8	A	G	6: 54,601,546 (GRCm39)	D321G	probably damaging	Het
Pprc1	T	C	19: 46,059,795 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,468,576 (GRCm39)	D129G	possibly damaging	Het
Rbms3	C	T	9: 116,773,441 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,821,161 (GRCm39)	V1495D	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,507 (GRCm39)		noncoding transcript	Het
Ryr3	A	T	2: 112,483,090 (GRCm39)	I4219N	probably damaging	Het
Sbf2	G	A	7: 109,977,146 (GRCm39)		probably benign	Het
Scn10a	C	T	9: 119,467,738 (GRCm39)	A801T	probably damaging	Het
Scn9a	T	A	2: 66,314,093 (GRCm39)	Y1866F	possibly damaging	Het
Sec1	A	C	7: 45,328,727 (GRCm39)	Y107D	probably damaging	Het
Sema6d	C	T	2: 124,504,214 (GRCm39)	T619M	possibly damaging	Het
Sh2b3	C	A	5: 121,966,618 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,837,413 (GRCm39)	V44A	probably damaging	Het
Slc5a12	T	C	2: 110,452,085 (GRCm39)	I326T	possibly damaging	Het
Smarca5	T	C	8: 81,435,309 (GRCm39)		probably null	Het
Smarcd2	A	G	11: 106,157,357 (GRCm39)		probably null	Het
Snrpa1	A	T	7: 65,719,321 (GRCm39)		probably benign	Het
Sptbn5	T	G	2: 119,898,449 (GRCm39)	K470Q	probably benign	Het
Stard9	T	G	2: 120,526,422 (GRCm39)	V893G	possibly damaging	Het
Stx8	T	G	11: 67,864,099 (GRCm39)	V53G	possibly damaging	Het
Sv2c	A	T	13: 96,122,457 (GRCm39)	W440R	probably damaging	Het
Tcstv2a	A	T	13: 120,725,686 (GRCm39)	T117S	probably damaging	Het
Tmem181a	A	T	17: 6,330,940 (GRCm39)	I67F	probably benign	Het
Tmprss7	C	T	16: 45,483,679 (GRCm39)	C565Y	probably damaging	Het
Trafd1	A	T	5: 121,516,561 (GRCm39)	L109H	probably damaging	Het
Trpv4	A	G	5: 114,768,083 (GRCm39)	I422T	possibly damaging	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Vmn1r236	A	T	17: 21,507,202 (GRCm39)	N107Y	probably damaging	Het
Vmn2r13	A	T	5: 109,321,938 (GRCm39)	I253K	probably damaging	Het
Vmn2r2	T	A	3: 64,041,960 (GRCm39)	I252F	probably damaging	Het
Vsig8	A	G	1: 172,387,205 (GRCm39)	D27G	probably damaging	Het
Wiz	A	T	17: 32,575,411 (GRCm39)	Y908*	probably null	Het
Wnk1	A	T	6: 119,939,399 (GRCm39)	S1113T	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp691	G	T	4: 119,027,764 (GRCm39)	T156K	probably damaging	Het
Zfp791	A	T	8: 85,837,035 (GRCm39)	D276E	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
R4608:Bbs10	UTSW	10	111,136,681 (GRCm39)	missense	probably damaging	0.99
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
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'- TATACATGCGGTCTCTCCATG -3'
(R):5'- TTCAGTCAGCCAGAAGCCTG -3'

Sequencing Primer
(F):5'- GGTCTCTCCATGCACTGCAAG -3'
(R):5'- GTCTGCGAACATGTGTGTACAAC -3'

Posted On

2016-03-01