Mutagenetix > Incidental Mutations

Incidental Mutation 'R1532:Bbs9'

166667

Institutional Source

Beutler Lab

Gene Symbol

Bbs9

Ensembl Gene

ENSMUSG00000035919

Gene Name

Bardet-Biedl syndrome 9 (human)

Synonyms

E130103I17Rik, EST 3159894

MMRRC Submission

039571-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R1532 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22475715-22888280 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22887649 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 858 (T858A)

Ref Sequence

ENSEMBL: ENSMUSP00000116629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039798] [ENSMUST00000127296] [ENSMUST00000147405] [ENSMUST00000147712] [ENSMUST00000150395]

Predicted Effect

probably benign
Transcript: ENSMUST00000039798
AA Change: T858A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000043042
Gene: ENSMUSG00000035919
AA Change: T858A

Domain	Start	End	E-Value	Type
Pfam:PHTB1_N	1	421	8e-168	PFAM
Pfam:PHTB1_C	439	814	8.3e-163	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124076

Predicted Effect

probably benign
Transcript: ENSMUST00000127296

Predicted Effect

probably benign
Transcript: ENSMUST00000136084

SMART Domains

Protein: ENSMUSP00000123160
Gene: ENSMUSG00000035919

Domain	Start	End	E-Value	Type
Pfam:PHTB1_C	24	162	2.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147405
AA Change: T863A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120927
Gene: ENSMUSG00000035919
AA Change: T863A

Domain	Start	End	E-Value	Type
Pfam:PHTB1_N	1	417	1.1e-166	PFAM
Pfam:PHTB1_C	440	818	7e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147712
AA Change: T858A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122058
Gene: ENSMUSG00000035919
AA Change: T858A

Domain	Start	End	E-Value	Type
Pfam:PHTB1_N	1	421	8e-168	PFAM
Pfam:PHTB1_C	439	814	8.3e-163	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150395
AA Change: T858A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116629
Gene: ENSMUSG00000035919
AA Change: T858A

Domain	Start	End	E-Value	Type
Pfam:PHTB1_N	1	421	8e-168	PFAM
Pfam:PHTB1_C	439	814	8.3e-163	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	A	4: 86,248,065	H394N	probably benign	Het
Ahrr	A	G	13: 74,213,707	S558P	probably benign	Het
Ankrd26	T	C	6: 118,522,958	N1184S	probably damaging	Het
Anpep	A	T	7: 79,826,948	C14*	probably null	Het
Arhgap18	A	G	10: 26,860,722	D187G	possibly damaging	Het
Arhgef5	A	G	6: 43,273,403	T363A	probably benign	Het
Atxn1	A	T	13: 45,566,910	L503Q	possibly damaging	Het
Babam1	A	G	8: 71,399,633	D155G	possibly damaging	Het
Cacna1g	C	A	11: 94,443,331	G828V	probably damaging	Het
Ccar2	T	C	14: 70,142,956	T392A	probably benign	Het
Cd163	T	C	6: 124,312,730	V469A	possibly damaging	Het
Cdh23	G	T	10: 60,314,331	N2576K	probably damaging	Het
Coro2b	A	G	9: 62,489,423	Y18H	probably damaging	Het
Crispld2	G	T	8: 120,023,572	K238N	probably benign	Het
Ctnnd2	T	C	15: 30,921,868	I880T	probably damaging	Het
Cubn	C	A	2: 13,287,661	C3237F	probably damaging	Het
Ddx31	A	G	2: 28,881,159	M519V	probably benign	Het
Dhx32	A	T	7: 133,749,024	C106S	possibly damaging	Het
Diaph1	A	G	18: 37,896,093		probably null	Het
Dnaaf1	T	C	8: 119,577,423	F67L	probably benign	Het
Duox1	T	G	2: 122,344,723	L1334R	probably damaging	Het
Dync1li2	A	T	8: 104,426,035	I322N	probably damaging	Het
Eml6	T	C	11: 29,792,256		probably null	Het
Entpd6	A	G	2: 150,758,750	Q126R	probably benign	Het
Entpd7	C	G	19: 43,691,077	P23R	possibly damaging	Het
Epha3	T	C	16: 63,546,178	I970V	probably benign	Het
Fras1	A	T	5: 96,713,996	H2163L	probably damaging	Het
Gse1	C	G	8: 120,568,210		probably benign	Het
Heatr5a	A	G	12: 51,952,518	V300A	probably damaging	Het
Hsd3b1	T	A	3: 98,852,898	D259V	probably damaging	Het
Hspbap1	T	C	16: 35,825,303	S453P	probably damaging	Het
Ifnl3	A	G	7: 28,524,227	T163A	probably benign	Het
Igbp1b	T	A	6: 138,658,444	M1L	possibly damaging	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Lpxn	T	C	19: 12,804,092		probably null	Het
Mast1	G	A	8: 84,928,609	Q249*	probably null	Het
Mink1	A	G	11: 70,602,007	D153G	probably null	Het
Mllt10	G	A	2: 18,092,835		probably null	Het
Mpl	C	T	4: 118,448,568	G420E	possibly damaging	Het
Ms4a1	T	A	19: 11,253,193	T215S	probably benign	Het
Ncapd3	C	T	9: 27,083,360	Q1179*	probably null	Het
Nr3c2	A	G	8: 76,909,104	H278R	probably damaging	Het
Olfr1417	T	C	19: 11,828,619	I136V	probably benign	Het
Olfr1454	A	G	19: 13,064,275	Y288C	probably damaging	Het
Olfr670	T	C	7: 104,960,265	I156V	probably benign	Het
Os9	C	T	10: 127,098,902	V353M	probably damaging	Het
Osbpl5	A	T	7: 143,695,080	M589K	probably benign	Het
Phf20	G	T	2: 156,303,049	G859V	possibly damaging	Het
Pkhd1	G	A	1: 20,117,401	T3561I	probably benign	Het
Prss46	G	A	9: 110,850,168	V146I	probably benign	Het
Ptprk	G	A	10: 28,585,630	V1139M	probably damaging	Het
Ranbp10	A	G	8: 105,774,331	L396P	probably benign	Het
Rb1cc1	A	G	1: 6,249,734	T1126A	probably benign	Het
Rbl2	G	A	8: 91,106,417	A659T	probably benign	Het
Rdm1	T	C	11: 101,633,817	L192P	probably damaging	Het
Reln	A	C	5: 22,034,744	W842G	probably damaging	Het
Scn5a	C	T	9: 119,533,847	R569H	probably damaging	Het
Sele	A	G	1: 164,053,851	K509R	probably benign	Het
Slc15a1	A	T	14: 121,475,984	I377N	possibly damaging	Het
Slc17a3	G	A	13: 23,856,500	G269D	probably damaging	Het
Slc35a5	T	C	16: 45,151,557	T115A	probably benign	Het
Slc5a12	T	G	2: 110,610,138	N157K	possibly damaging	Het
Sphkap	A	G	1: 83,257,203	V1634A	probably damaging	Het
Spta1	T	C	1: 174,247,353	S2382P	probably damaging	Het
Synj2	C	A	17: 6,033,919	S1100R	probably benign	Het
Tcf23	A	G	5: 30,973,557	T180A	probably benign	Het
Tnxb	T	C	17: 34,710,830	V2846A	probably damaging	Het
Tpr	T	A	1: 150,418,000	I915K	probably damaging	Het
Uba1y	C	T	Y: 828,862	H557Y	probably benign	Het
Unc45b	T	A	11: 82,936,874	D730E	probably benign	Het
Unc5b	A	T	10: 60,769,232	L734Q	probably damaging	Het
Vmn1r167	G	T	7: 23,504,779	H271N	probably benign	Het
Vmn2r76	A	G	7: 86,230,246	V282A	probably benign	Het
Xirp2	A	G	2: 67,513,939	K2175E	probably benign	Het

Other mutations in Bbs9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Bbs9	APN	9	22887683	missense	probably benign	0.00
IGL01586:Bbs9	APN	9	22645997	missense	possibly damaging	0.46
IGL01646:Bbs9	APN	9	22670925	nonsense	probably null
IGL01654:Bbs9	APN	9	22490942	critical splice donor site	probably null
IGL02172:Bbs9	APN	9	22579476	missense	possibly damaging	0.65
IGL02212:Bbs9	APN	9	22812512	missense	probably benign	0.02
IGL02444:Bbs9	APN	9	22643787	missense	probably damaging	0.96
IGL02829:Bbs9	APN	9	22579484	missense	probably damaging	0.98
IGL03385:Bbs9	APN	9	22643748	missense	probably benign	0.19
corpulent	UTSW	9	22575196	critical splice donor site	probably null
Crapulence	UTSW	9	22567764	missense	probably damaging	1.00
R0038:Bbs9	UTSW	9	22504094	missense	probably benign	0.30
R0243:Bbs9	UTSW	9	22514001	missense	probably damaging	1.00
R0595:Bbs9	UTSW	9	22496815	missense	probably benign
R0688:Bbs9	UTSW	9	22567719	missense	probably damaging	0.98
R0726:Bbs9	UTSW	9	22793823	missense	probably damaging	0.99
R0749:Bbs9	UTSW	9	22575201	splice site	probably null
R0783:Bbs9	UTSW	9	22567714	missense	possibly damaging	0.69
R1148:Bbs9	UTSW	9	22575100	splice site	probably benign
R1783:Bbs9	UTSW	9	22659119	missense	possibly damaging	0.85
R2285:Bbs9	UTSW	9	22678934	missense	probably damaging	1.00
R2402:Bbs9	UTSW	9	22646063	missense	probably benign	0.23
R2655:Bbs9	UTSW	9	22504052	missense	probably damaging	1.00
R3428:Bbs9	UTSW	9	22567887	splice site	probably benign
R3798:Bbs9	UTSW	9	22638769	missense	probably damaging	1.00
R3806:Bbs9	UTSW	9	22887630	missense	probably damaging	0.98
R4660:Bbs9	UTSW	9	22578767	missense	probably benign	0.16
R4873:Bbs9	UTSW	9	22578715	missense	probably benign	0.06
R4875:Bbs9	UTSW	9	22578715	missense	probably benign	0.06
R5291:Bbs9	UTSW	9	22628997	missense	probably damaging	1.00
R5364:Bbs9	UTSW	9	22575196	critical splice donor site	probably null
R5502:Bbs9	UTSW	9	22504074	missense	probably damaging	1.00
R5646:Bbs9	UTSW	9	22578715	missense	probably benign	0.06
R5932:Bbs9	UTSW	9	22812331	missense	probably damaging	1.00
R6222:Bbs9	UTSW	9	22567851	missense	possibly damaging	0.88
R6451:Bbs9	UTSW	9	22567764	missense	probably damaging	1.00
R6547:Bbs9	UTSW	9	22514069	missense	probably benign	0.01
R6726:Bbs9	UTSW	9	22645964	missense	probably benign	0.00
R6745:Bbs9	UTSW	9	22670836	missense	probably benign	0.00
R6908:Bbs9	UTSW	9	22567723	missense	probably damaging	0.96
R6919:Bbs9	UTSW	9	22812544	critical splice donor site	probably null
R7102:Bbs9	UTSW	9	22579553	missense	probably damaging	1.00
R7536:Bbs9	UTSW	9	22670800	missense	probably damaging	1.00
R7712:Bbs9	UTSW	9	22670813	missense	probably benign	0.34
R8177:Bbs9	UTSW	9	22514063	missense	probably benign	0.08
R8190:Bbs9	UTSW	9	22678988	missense	probably damaging	1.00
R8241:Bbs9	UTSW	9	22678918	missense	probably benign	0.00
R8440:Bbs9	UTSW	9	22567750	missense	probably damaging	0.99
X0027:Bbs9	UTSW	9	22655330	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCACTGCCACCAAGTTCAAATCC -3'
(R):5'- GAGAAATGTCCCAGGCACCCTTAC -3'

Sequencing Primer
(F):5'- TGCTCTCGAAGATAGCTGCAC -3'
(R):5'- CCCTTACCAAGACCTAGATGTTAG -3'

Posted On

2014-04-13