Mutagenetix > Incidental Mutation

Incidental Mutation 'R4832:Bbs10'

372919

Institutional Source

Beutler Lab

Gene Symbol

Bbs10

Ensembl Gene

ENSMUSG00000035759

Gene Name

Bardet-Biedl syndrome 10

Synonyms

1300007O09Rik

MMRRC Submission

042448-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4832 (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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (106/108)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,597 (GRCm39)	V186A	possibly damaging	Het
1700088E04Rik	A	T	15: 79,019,409 (GRCm39)	M198K	probably damaging	Het
4933402J07Rik	A	G	8: 88,294,601 (GRCm39)	K84R	probably null	Het
Aamdc	T	C	7: 97,199,773 (GRCm39)		probably null	Het
Abcc9	A	G	6: 142,617,282 (GRCm39)	V594A	probably damaging	Het
Adamts13	G	A	2: 26,879,414 (GRCm39)	D656N	probably benign	Het
Adcy10	G	T	1: 165,334,213 (GRCm39)	C122F	probably damaging	Het
Adi1	A	G	12: 28,725,252 (GRCm39)	M1V	probably null	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Akt1	G	T	12: 112,623,521 (GRCm39)	P313Q	probably damaging	Het
Ano3	A	T	2: 110,498,067 (GRCm39)	M758K	probably damaging	Het
Baz2a	T	A	10: 127,958,999 (GRCm39)	N1168K	probably benign	Het
Bcap29	A	G	12: 31,674,202 (GRCm39)	I131T	probably benign	Het
Brd10	G	T	19: 29,694,616 (GRCm39)	L1626I	possibly damaging	Het
Btnl6	T	C	17: 34,732,966 (GRCm39)	D299G	possibly damaging	Het
Ccdc66	A	G	14: 27,222,524 (GRCm39)	I73T	probably benign	Het
Cdh2	A	G	18: 16,760,754 (GRCm39)	S538P	probably benign	Het
Cfap54	T	A	10: 92,803,390 (GRCm39)	M1551L	probably benign	Het
Chd2	G	A	7: 73,151,873 (GRCm39)	A243V	probably damaging	Het
Cntnap1	T	A	11: 101,073,845 (GRCm39)	N665K	probably damaging	Het
Colgalt2	C	T	1: 152,360,749 (GRCm39)	T262I	possibly damaging	Het
Cyp24a1	T	C	2: 170,338,098 (GRCm39)	I149V	probably benign	Het
Cyp2a5	T	A	7: 26,534,970 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,366,080 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,917,606 (GRCm39)	I4158F	probably damaging	Het
Dnm2	G	A	9: 21,385,975 (GRCm39)		probably null	Het
Dpp7	A	T	2: 25,242,398 (GRCm39)		probably benign	Het
Epha6	T	A	16: 59,780,776 (GRCm39)	I642F	probably damaging	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Fancd2	A	G	6: 113,530,683 (GRCm39)	T439A	probably benign	Het
Fat1	G	A	8: 45,466,102 (GRCm39)	V1431M	possibly damaging	Het
Fhod3	G	A	18: 25,223,305 (GRCm39)	A884T	probably benign	Het
Fsip2	A	G	2: 82,820,515 (GRCm39)	D5416G	possibly damaging	Het
Gabarap	C	T	11: 69,882,678 (GRCm39)		probably benign	Het
Garre1	T	C	7: 33,938,333 (GRCm39)		probably benign	Het
Gm11544	C	T	11: 94,736,532 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,964 (GRCm39)	K304Q	probably benign	Het
Gpr141b	T	A	13: 19,913,840 (GRCm39)		noncoding transcript	Het
Gramd4	C	T	15: 86,019,057 (GRCm39)	A575V	probably benign	Het
Gtpbp10	G	A	5: 5,589,295 (GRCm39)	A274V	possibly damaging	Het
Gzmb	A	G	14: 56,497,679 (GRCm39)	I187T	probably damaging	Het
H2-M10.2	G	A	17: 36,595,219 (GRCm39)	T315I	probably damaging	Het
Haus5	A	T	7: 30,356,452 (GRCm39)	F524I	probably damaging	Het
Herc1	A	G	9: 66,403,253 (GRCm39)	S4391G	probably benign	Het
Herc2	T	A	7: 55,748,165 (GRCm39)	L511*	probably null	Het
Htt	T	A	5: 34,982,184 (GRCm39)	C923S	probably benign	Het
Idua	T	C	5: 108,817,247 (GRCm39)	S7P	probably benign	Het
Ighv16-1	A	T	12: 114,032,466 (GRCm39)	L112Q	probably damaging	Het
Igkv1-110	A	G	6: 68,248,185 (GRCm39)	K98R	probably benign	Het
Kif15	G	A	9: 122,831,191 (GRCm39)		probably null	Het
Leng9	C	A	7: 4,152,029 (GRCm39)	G216W	probably damaging	Het
Lrpprc	A	G	17: 85,014,584 (GRCm39)	L1306S	probably benign	Het
Lztfl1	C	A	9: 123,544,454 (GRCm39)	E20D	possibly damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Map3k4	C	T	17: 12,490,667 (GRCm39)	E255K	probably damaging	Het
Megf9	G	A	4: 70,452,665 (GRCm39)	T132M	probably damaging	Het
Mob4	T	C	1: 55,184,411 (GRCm39)		probably benign	Het
Mttp	G	A	3: 137,821,811 (GRCm39)	A252V	probably benign	Het
Mxi1	A	G	19: 53,358,745 (GRCm39)	D226G	probably damaging	Het
Myh14	A	G	7: 44,274,566 (GRCm39)	S1249P	probably benign	Het
Mylk	G	A	16: 34,742,737 (GRCm39)	G1083D	probably benign	Het
Mylk4	T	G	13: 32,905,960 (GRCm39)	I408L	probably benign	Het
Nbas	A	G	12: 13,533,740 (GRCm39)	S1792G	probably benign	Het
Nelfb	A	G	2: 25,099,981 (GRCm39)	V212A	probably damaging	Het
Nisch	T	C	14: 30,899,587 (GRCm39)		probably benign	Het
Nqo1	C	G	8: 108,115,477 (GRCm39)	D267H	probably benign	Het
Or8u10	C	A	2: 85,915,190 (GRCm39)	L310F	probably benign	Het
Pcid2	T	A	8: 13,135,425 (GRCm39)	I195F	probably damaging	Het
Pcnx2	A	T	8: 126,478,927 (GRCm39)	M2107K	probably damaging	Het
Pgd	A	T	4: 149,241,048 (GRCm39)		probably benign	Het
Prim2	T	C	1: 33,503,145 (GRCm39)	M430V	probably benign	Het
Prkaa1	A	G	15: 5,190,101 (GRCm39)	T40A	probably damaging	Het
Ptges	T	C	2: 30,793,232 (GRCm39)		probably benign	Het
Ptprn	T	C	1: 75,234,909 (GRCm39)	E226G	probably benign	Het
Rab14	A	G	2: 35,079,978 (GRCm39)	F55S	probably damaging	Het
Ralgps2	A	T	1: 156,684,637 (GRCm39)		probably benign	Het
Rgs11	C	T	17: 26,426,542 (GRCm39)	H258Y	probably benign	Het
Rhpn2	T	C	7: 35,075,774 (GRCm39)		probably null	Het
Rprd2	A	T	3: 95,681,483 (GRCm39)	V452E	probably damaging	Het
Scube3	C	A	17: 28,384,989 (GRCm39)	H646Q	probably damaging	Het
Selp	A	T	1: 163,953,909 (GRCm39)	I70F	probably damaging	Het
Septin2	A	G	1: 93,426,849 (GRCm39)	I153V	probably damaging	Het
Sh3rf3	G	A	10: 58,649,905 (GRCm39)	S170N	probably benign	Het
Skint4	A	T	4: 112,000,963 (GRCm39)	I353F	possibly damaging	Het
Slc16a12	A	G	19: 34,657,780 (GRCm39)	I41T	possibly damaging	Het
Snai2	T	C	16: 14,524,881 (GRCm39)	F129S	probably damaging	Het
Top3b	C	T	16: 16,708,526 (GRCm39)	R629*	probably null	Het
Trim17	T	A	11: 58,862,270 (GRCm39)	V434E	probably damaging	Het
Ttn	G	A	2: 76,615,327 (GRCm39)	P15051L	probably damaging	Het
Uggt2	A	T	14: 119,239,259 (GRCm39)	I1391N	probably damaging	Het
Usp8	A	T	2: 126,596,958 (GRCm39)	M923L	probably damaging	Het
Vmn1r176	T	C	7: 23,534,463 (GRCm39)	H230R	possibly damaging	Het
Vmn1r217	C	A	13: 23,298,159 (GRCm39)	D248Y	probably damaging	Het
Vmn2r14	A	T	5: 109,363,976 (GRCm39)	C647S	probably damaging	Het
Vwa5b1	A	G	4: 138,332,851 (GRCm39)	I237T	probably damaging	Het
Zan	T	A	5: 137,391,423 (GRCm39)	D4687V	unknown	Het
Zfp273	T	C	13: 67,973,484 (GRCm39)	V204A	probably benign	Het
Zfp956	T	G	6: 47,928,987 (GRCm39)		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
R4822: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'- CACACATATACATGCGGTCTCTCC -3'
(R):5'- TTCAGTCAGCCAGAAGCCTG -3'

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

Posted On

2016-03-01