Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:Bbs9'

538869

Institutional Source

Beutler Lab

Gene Symbol

Bbs9

Ensembl Gene

ENSMUSG00000035919

Gene Name

Bardet-Biedl syndrome 9 (human)

Synonyms

E130103I17Rik, EST 3159894

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R6908 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22475715-22888280 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 22567723 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 154 (I154S)

Ref Sequence

ENSEMBL: ENSMUSP00000116629 (fasta)

Gene Model

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

AlphaFold

Q811G0

Predicted Effect

probably damaging
Transcript: ENSMUST00000039798
AA Change: I154S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043042
Gene: ENSMUSG00000035919
AA Change: I154S

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

possibly damaging
Transcript: ENSMUST00000147405
AA Change: I154S

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120927
Gene: ENSMUSG00000035919
AA Change: I154S

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: I154S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122058
Gene: ENSMUSG00000035919
AA Change: I154S

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: I154S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116629
Gene: ENSMUSG00000035919
AA Change: I154S

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

95% (52/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,657,305	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,448,535		probably null	Het
B3glct	T	C	5: 149,696,476		probably null	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,791,939		probably null	Het
Celf6	T	C	9: 59,603,823	V349A	probably benign	Het
Chd9	A	G	8: 90,956,416	T495A	probably benign	Het
Cxxc1	G	A	18: 74,220,559	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,859,215	V223A	probably damaging	Het
Dlc1	A	G	8: 36,937,687	F316S	probably benign	Het
Dnajc12	C	A	10: 63,397,325	Q82K	probably benign	Het
Dock8	G	A	19: 25,188,382	E1877K	probably damaging	Het
Epha3	T	G	16: 63,598,249	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,182,439	C220F	probably damaging	Het
Fryl	A	G	5: 73,022,211	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,221,032	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,534	N77D	probably benign	Het
Ints13	A	T	6: 146,555,033	D438E	probably damaging	Het
Itgb6	C	T	2: 60,650,021	V324M	probably benign	Het
Kdm7a	G	T	6: 39,144,439	L861M	possibly damaging	Het
Kirrel3	A	G	9: 35,013,401	T302A	possibly damaging	Het
Lama2	A	T	10: 27,031,196		probably null	Het
Lrp2	A	T	2: 69,472,365	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Mastl	T	C	2: 23,155,976		probably benign	Het
Mcf2l	T	C	8: 13,018,919	V1087A	probably benign	Het
Mcmdc2	C	A	1: 9,930,778		probably null	Het
Ms4a3	A	G	19: 11,638,295	I39T	probably damaging	Het
Mylk	T	G	16: 34,880,273	C495G	probably benign	Het
Myo10	A	G	15: 25,804,383	D1588G	probably damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,217,296	I460V	probably benign	Het
Nmt1	T	G	11: 103,058,254	S312A	possibly damaging	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr710	T	C	7: 106,944,632	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,791,224	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,296,524	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,152,446	I559T	probably damaging	Het
Plec	G	A	15: 76,185,881	Q806*	probably null	Het
Prss51	C	T	14: 64,096,152	A70V	probably benign	Het
Psd3	A	T	8: 67,964,177	I356K	probably benign	Het
Ptprn2	A	T	12: 116,888,888	I522F	probably benign	Het
Rab39	T	C	9: 53,706,069	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,143,100	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,104,063	D238E	probably benign	Het
Ripor2	G	A	13: 24,706,232	G697S	probably damaging	Het
Scn11a	A	T	9: 119,792,426	F642I	probably damaging	Het
Serinc4	G	A	2: 121,453,605	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 127,021,626		probably benign	Het
Slc36a3	T	C	11: 55,149,886		probably benign	Het
Smc1b	A	G	15: 85,107,010	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,352,332	S455P	probably damaging	Het
Ttn	C	A	2: 76,889,858		probably benign	Het
Tyw5	T	C	1: 57,401,523	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,806,230	T97A	possibly damaging	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
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
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
R8733:Bbs9	UTSW	9	22670832	missense	probably benign	0.03
R8737:Bbs9	UTSW	9	22678948	missense	probably benign	0.17
R8854:Bbs9	UTSW	9	22578764	missense	probably damaging	1.00
R8885:Bbs9	UTSW	9	22678938	missense	possibly damaging	0.67
R9135:Bbs9	UTSW	9	22578709	missense	probably damaging	1.00
X0027:Bbs9	UTSW	9	22655330	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGATATTTCCACTGGCTTG -3'
(R):5'- GTGATGATCTAAGCCAACCCAG -3'

Sequencing Primer
(F):5'- CCTGATATTTCCACTGGCTTGTAAAG -3'
(R):5'- ACCAAAGAAGCCAGTAATTTCTTC -3'

Posted On

2018-11-06