Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02829:Bbs9'

361358

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bbs9

Ensembl Gene

ENSMUSG00000035919

Gene Name

Bardet-Biedl syndrome 9 (human)

Synonyms

E130103I17Rik, EST 3159894

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.685) question?

Stock #

IGL02829

Quality Score

Status

Chromosome

Chromosomal Location

22475715-22888280 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22579484 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 303 (T303A)

Ref Sequence

ENSEMBL: ENSMUSP00000116629 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039798
AA Change: T303A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043042
Gene: ENSMUSG00000035919
AA Change: T303A

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: ENSMUST00000137547

Predicted Effect

probably damaging
Transcript: ENSMUST00000147405
AA Change: T303A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120927
Gene: ENSMUSG00000035919
AA Change: T303A

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 damaging
Transcript: ENSMUST00000147712
AA Change: T303A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122058
Gene: ENSMUSG00000035919
AA Change: T303A

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 damaging
Transcript: ENSMUST00000150395
AA Change: T303A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116629
Gene: ENSMUSG00000035919
AA Change: T303A

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: ENSMUST00000152719

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bet1	T	A	6: 4,086,795	M1L	probably benign	Het
Bicc1	A	C	10: 70,958,880	V149G	probably damaging	Het
Braf	C	A	6: 39,627,728	L655F	possibly damaging	Het
Cd101	A	G	3: 101,018,565		probably benign	Het
Cobll1	T	C	2: 65,126,045	K290E	probably damaging	Het
Col6a5	A	T	9: 105,934,307	I671K	unknown	Het
D130052B06Rik	A	C	11: 33,623,864	T154P	probably benign	Het
Dglucy	A	C	12: 100,871,404	H602P	probably damaging	Het
Fbxo34	A	G	14: 47,529,689	I220V	probably benign	Het
Gm42878	A	G	5: 121,537,203	V101A	probably damaging	Het
Gsdmc4	A	G	15: 63,892,648	L381P	probably benign	Het
Ifi208	C	A	1: 173,682,840	P187H	probably damaging	Het
Lrrc37a	A	T	11: 103,491,174	C2473S	unknown	Het
Miip	T	A	4: 147,863,061	N214I	probably benign	Het
Mrc2	A	G	11: 105,336,707	T589A	possibly damaging	Het
Mtss1	A	G	15: 59,058,428		probably benign	Het
Mypn	T	C	10: 63,192,586	R233G	probably benign	Het
Naip6	A	T	13: 100,300,765	C417S	probably benign	Het
Olfr1084	T	A	2: 86,639,255	Y151F	possibly damaging	Het
Olfr1216	A	C	2: 89,013,677	L129W	probably damaging	Het
Olfr275	C	T	4: 52,826,027	P210L	probably damaging	Het
Pcsk1	T	C	13: 75,126,836	Y515H	probably damaging	Het
Pla2g2e	T	A	4: 138,880,436	Y42*	probably null	Het
Polh	A	T	17: 46,172,902	L479Q	possibly damaging	Het
Prr36	T	A	8: 4,215,278	R157S	possibly damaging	Het
Reck	T	A	4: 43,891,014	C51S	probably damaging	Het
Rev3l	A	G	10: 39,825,240	D1911G	probably damaging	Het
Scgb1b27	A	T	7: 34,021,748		probably null	Het
Sema4g	G	A	19: 44,992,749	R47Q	possibly damaging	Het
Serinc1	A	T	10: 57,523,965	Y158*	probably null	Het
Slc15a2	C	A	16: 36,757,193	G435C	possibly damaging	Het
Tbc1d17	C	A	7: 44,848,872		probably benign	Het
Tenm4	C	T	7: 96,894,998	Q2074*	probably null	Het
Tns3	A	G	11: 8,519,564	C244R	probably damaging	Het
Vmn2r2	A	T	3: 64,118,751		probably benign	Het
Vmn2r44	T	A	7: 8,377,880	Q338L	possibly damaging	Het
Wdr70	C	T	15: 7,976,982	D363N	possibly damaging	Het
Yipf7	A	T	5: 69,541,091	S24R	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
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
R1532:Bbs9	UTSW	9	22887649	missense	probably benign	0.00
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
X0027:Bbs9	UTSW	9	22655330	missense	probably damaging	1.00

Posted On

2015-12-18