Mutagenetix > Incidental Mutations

Incidental Mutation 'R6547:Bbs9'

521283

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?

Possibly essential (E-score: 0.748) question?

Stock #

R6547 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22475715-22888280 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22514069 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 140 (Y140H)

Ref Sequence

ENSEMBL: ENSMUSP00000116629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039798] [ENSMUST00000128812] [ENSMUST00000142313] [ENSMUST00000147405] [ENSMUST00000147712] [ENSMUST00000150395]

Predicted Effect

probably benign
Transcript: ENSMUST00000039798
AA Change: Y140H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000043042
Gene: ENSMUSG00000035919
AA Change: Y140H

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: ENSMUST00000128812
AA Change: Y140H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117700
Gene: ENSMUSG00000035919
AA Change: Y140H

Domain	Start	End	E-Value	Type
Pfam:PHTB1_N	1	147	2.4e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142313

SMART Domains

Protein: ENSMUSP00000122325
Gene: ENSMUSG00000035919

Domain	Start	End	E-Value	Type
Pfam:PHTB1_N	1	132	2.6e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147405
AA Change: Y140H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000120927
Gene: ENSMUSG00000035919
AA Change: Y140H

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: Y140H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000122058
Gene: ENSMUSG00000035919
AA Change: Y140H

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: Y140H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000116629
Gene: ENSMUSG00000035919
AA Change: Y140H

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,659,907		probably benign	Het
9230113P08Rik	T	A	9: 35,908,485	M15K	probably null	Het
Abca13	T	A	11: 9,274,757	V490E	probably benign	Het
Abca2	G	T	2: 25,433,338	G106V	possibly damaging	Het
Ablim3	T	C	18: 61,823,929	T276A	probably benign	Het
Anxa7	A	G	14: 20,469,393	V119A	probably benign	Het
Arl9	A	G	5: 77,010,410		probably null	Het
Atm	T	C	9: 53,440,157	Y2964C	probably damaging	Het
Calcr	A	T	6: 3,717,177	D94E	probably damaging	Het
Celsr3	T	A	9: 108,829,128	Y937N	probably damaging	Het
Clca3a1	C	T	3: 144,736,947	A779T	probably damaging	Het
Clec9a	T	A	6: 129,416,376	V94D	probably benign	Het
Colec12	G	T	18: 9,840,351	L57F	probably damaging	Het
Fa2h	T	C	8: 111,348,020	Y317C	probably damaging	Het
Fam126a	T	C	5: 23,965,100	N417S	probably benign	Het
Flnc	A	G	6: 29,448,608	T1282A	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,663,803		probably null	Het
Hcn2	G	T	10: 79,717,152	V162L	probably benign	Het
Kbtbd11	T	A	8: 15,027,641	V80E	possibly damaging	Het
Lama4	A	G	10: 39,073,656	D915G	probably damaging	Het
Limch1	A	T	5: 67,028,774	E806V	probably damaging	Het
Mppe1	T	C	18: 67,228,988	I169V	probably benign	Het
Msc	A	C	1: 14,755,745	S2A	possibly damaging	Het
Nploc4	A	G	11: 120,428,522		probably null	Het
Nr3c2	A	T	8: 76,908,809	I180F	possibly damaging	Het
Nrap	G	T	19: 56,351,566	H840N	probably benign	Het
Olfr151	T	A	9: 37,730,495	M163L	probably benign	Het
Pdlim1	G	A	19: 40,223,120	T243I	probably damaging	Het
Pfkl	T	A	10: 77,995,354	M318L	probably benign	Het
Rap1gds1	C	A	3: 138,955,338	R426L	probably damaging	Het
Ric1	A	G	19: 29,594,826	N674D	probably damaging	Het
Rp1	G	A	1: 4,170,305	T875I	unknown	Het
Rtn1	G	T	12: 72,308,761	S137Y	possibly damaging	Het
Scn2a	A	G	2: 65,715,897	I935V	probably benign	Het
Serpina1a	C	T	12: 103,855,921	V251M	probably damaging	Het
Slc19a3	A	G	1: 83,022,900	V132A	probably damaging	Het
Slc26a6	T	A	9: 108,860,782		probably null	Het
Slc2a5	T	A	4: 150,135,619	V164D	possibly damaging	Het
Slc4a1	T	A	11: 102,356,735	T441S	probably damaging	Het
Stk33	T	C	7: 109,320,835	I366V	possibly damaging	Het
Syt14	G	T	1: 192,901,869	H696N	possibly damaging	Het
Tcaim	T	A	9: 122,814,466	V77D	probably benign	Het
Tefm	T	G	11: 80,140,384		probably null	Het
Tekt3	T	A	11: 63,070,478	S158T	possibly damaging	Het
Tmem2	A	T	19: 21,844,831	T1197S	probably benign	Het
Tspan11	T	A	6: 127,949,803	M238K	possibly damaging	Het
Unc5c	A	T	3: 141,790,019	T476S	probably benign	Het
Usp9y	A	T	Y: 1,444,612	L109Q	probably damaging	Homo
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vps13c	C	A	9: 67,973,365	Q3495K	probably damaging	Het
Zbtb10	G	A	3: 9,251,703	A192T	probably benign	Het
Zfp316	A	T	5: 143,254,197	V689D	probably damaging	Het
Zswim1	A	G	2: 164,824,796		probably benign	Het
Zswim5	T	C	4: 116,986,903	L1046P	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TTCTCTAGTGGTGGAATCTAACTG -3'
(R):5'- TGCAAGGCATGTGATTATCAACC -3'

Sequencing Primer
(F):5'- ATTGACTTGAGGCTGATACAGAG -3'
(R):5'- GGCATGTGATTATCAACCAATTTC -3'

Posted On

2018-06-06