Mutagenetix > Incidental Mutation

Incidental Mutation 'R4875:Bbs9'

376734

Institutional Source

Beutler Lab

Gene Symbol

Bbs9

Ensembl Gene

ENSMUSG00000035919

Gene Name

Bardet-Biedl syndrome 9

Synonyms

E130103I17Rik, EST 3159894

MMRRC Submission

044392-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.827) question?

Stock #

R4875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22387011-22799576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22490011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 261 (F261L)

Ref Sequence

ENSEMBL: ENSMUSP00000116629 (fasta)

Gene Model

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

AlphaFold

Q811G0

Predicted Effect

probably benign
Transcript: ENSMUST00000039798
AA Change: F261L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000043042
Gene: ENSMUSG00000035919
AA Change: F261L

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 benign
Transcript: ENSMUST00000147405
AA Change: F261L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120927
Gene: ENSMUSG00000035919
AA Change: F261L

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: F261L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122058
Gene: ENSMUSG00000035919
AA Change: F261L

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: F261L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116629
Gene: ENSMUSG00000035919
AA Change: F261L

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

Meta Mutation Damage Score

0.0680

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (57/60)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,521,189 (GRCm39)	E119D	probably benign	Het
Alox5	A	T	6: 116,390,811 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,011,515 (GRCm39)	V1294A	probably damaging	Het
BB019430	A	G	10: 58,539,865 (GRCm39)		noncoding transcript	Het
Catsperb	A	T	12: 101,554,244 (GRCm39)	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,429,356 (GRCm39)	I114T	probably damaging	Het
Cecr2	T	C	6: 120,727,877 (GRCm39)	L340P	probably damaging	Het
Ces2e	T	A	8: 105,653,817 (GRCm39)	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,161,964 (GRCm39)	T79K	probably damaging	Het
Cntn4	G	A	6: 106,414,874 (GRCm39)	R135H	possibly damaging	Het
Cpne8	T	A	15: 90,532,771 (GRCm39)		probably benign	Het
Ctso	C	T	3: 81,849,688 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,389,659 (GRCm39)	M235I	probably benign	Het
Dll3	A	G	7: 27,995,860 (GRCm39)	C314R	probably damaging	Het
Dnah7c	A	G	1: 46,728,085 (GRCm39)	N2928D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dqx1	C	A	6: 83,037,993 (GRCm39)	D460E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,051,164 (GRCm39)	C438R	probably damaging	Het
Ehd3	T	G	17: 74,112,299 (GRCm39)	V21G	probably damaging	Het
Ero1b	G	A	13: 12,619,325 (GRCm39)	V440I	probably damaging	Het
Fpgt	G	A	3: 154,793,550 (GRCm39)	A159V	probably damaging	Het
Gcn1	T	C	5: 115,714,229 (GRCm39)	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,639,226 (GRCm39)	R439W	probably damaging	Het
Gm4353	G	C	7: 115,683,648 (GRCm39)	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,700,101 (GRCm39)	A224T	probably benign	Het
Helz	T	A	11: 107,528,560 (GRCm39)		probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcns1	T	C	2: 164,010,021 (GRCm39)	Y246C	probably damaging	Het
Kif26b	A	G	1: 178,742,892 (GRCm39)	E549G	probably benign	Het
Krt9	T	C	11: 100,080,863 (GRCm39)	I330V	probably benign	Het
Lair1	A	T	7: 4,032,033 (GRCm39)	S25T	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Luzp2	A	G	7: 54,816,996 (GRCm39)	I149V	possibly damaging	Het
Mcoln1	T	A	8: 3,557,422 (GRCm39)	S143T	probably benign	Het
Mcph1	A	G	8: 18,675,574 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,396,986 (GRCm39)	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,208,209 (GRCm39)	T168M	probably benign	Het
Mospd4	G	T	18: 46,598,804 (GRCm39)		noncoding transcript	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,379,114 (GRCm39)	V626A	probably damaging	Het
Naa80	C	T	9: 107,460,818 (GRCm39)	R238C	probably damaging	Het
Ncam1	T	C	9: 49,418,921 (GRCm39)		probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ndufv1	T	C	19: 4,062,653 (GRCm39)		probably null	Het
Nlrp2	A	T	7: 5,301,858 (GRCm39)	F211L	probably benign	Het
Or10a49	A	T	7: 108,467,993 (GRCm39)	F123I	probably damaging	Het
Or10q12	T	A	19: 13,746,126 (GRCm39)	M140K	probably damaging	Het
Or2ad1	T	A	13: 21,326,450 (GRCm39)	Y259F	probably damaging	Het
Osbpl11	G	A	16: 33,054,863 (GRCm39)	V649I	probably benign	Het
Pax8	T	A	2: 24,331,652 (GRCm39)	M144L	probably benign	Het
Pcnt	T	C	10: 76,205,688 (GRCm39)	T2555A	probably benign	Het
Plat	T	A	8: 23,258,466 (GRCm39)	I23K	probably benign	Het
Plpp2	G	A	10: 79,366,763 (GRCm39)	T51M	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,957,742 (GRCm39)	M233V	probably benign	Het
Prox1	A	C	1: 189,894,319 (GRCm39)	F42C	probably damaging	Het
Pwwp2b	A	T	7: 138,835,978 (GRCm39)	Q473L	possibly damaging	Het
Rims4	A	T	2: 163,707,443 (GRCm39)	N127K	probably null	Het
Scn1a	T	C	2: 66,158,820 (GRCm39)	T367A	possibly damaging	Het
Slc23a2	A	G	2: 131,898,800 (GRCm39)	I579T	possibly damaging	Het
Sp9	T	C	2: 73,103,962 (GRCm39)	V172A	possibly damaging	Het
Spta1	T	A	1: 174,003,396 (GRCm39)	L109Q	probably damaging	Het
Strap	ACCTGCCCTCCT	ACCT	6: 137,726,316 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,038,343 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,206 (GRCm39)	V15A	probably damaging	Het
Tgif2-ps2	A	G	17: 40,426,274 (GRCm39)		noncoding transcript	Het
Tnrc18	A	T	5: 142,750,932 (GRCm39)	M1216K	unknown	Het
Tpst2	T	A	5: 112,457,687 (GRCm39)	Y69*	probably null	Het
Tpx2	C	A	2: 152,735,535 (GRCm39)	A721E	probably benign	Het
Trmt1l	A	G	1: 151,330,755 (GRCm39)	T591A	probably benign	Het
Tuba8	T	A	6: 121,203,042 (GRCm39)		probably benign	Het
Ubiad1	T	C	4: 148,528,556 (GRCm39)	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,424,566 (GRCm39)	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,457,108 (GRCm39)	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,308,367 (GRCm39)	I624V	probably damaging	Het
Wdr4	A	G	17: 31,718,129 (GRCm39)	V315A	probably benign	Het
Xpo7	T	C	14: 70,914,256 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,403 (GRCm39)	W190R	probably damaging	Het
Zfp971	A	G	2: 177,674,940 (GRCm39)	T180A	probably benign	Het

Other mutations in Bbs9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Bbs9	APN	9	22,798,979 (GRCm39)	missense	probably benign	0.00
IGL01586:Bbs9	APN	9	22,557,293 (GRCm39)	missense	possibly damaging	0.46
IGL01646:Bbs9	APN	9	22,582,221 (GRCm39)	nonsense	probably null
IGL01654:Bbs9	APN	9	22,402,238 (GRCm39)	critical splice donor site	probably null
IGL02172:Bbs9	APN	9	22,490,772 (GRCm39)	missense	possibly damaging	0.65
IGL02212:Bbs9	APN	9	22,723,808 (GRCm39)	missense	probably benign	0.02
IGL02444:Bbs9	APN	9	22,555,083 (GRCm39)	missense	probably damaging	0.96
IGL02829:Bbs9	APN	9	22,490,780 (GRCm39)	missense	probably damaging	0.98
IGL03385:Bbs9	APN	9	22,555,044 (GRCm39)	missense	probably benign	0.19
corpulent	UTSW	9	22,486,492 (GRCm39)	critical splice donor site	probably null
Crapulence	UTSW	9	22,479,060 (GRCm39)	missense	probably damaging	1.00
R0038:Bbs9	UTSW	9	22,415,390 (GRCm39)	missense	probably benign	0.30
R0243:Bbs9	UTSW	9	22,425,297 (GRCm39)	missense	probably damaging	1.00
R0595:Bbs9	UTSW	9	22,408,111 (GRCm39)	missense	probably benign
R0688:Bbs9	UTSW	9	22,479,015 (GRCm39)	missense	probably damaging	0.98
R0726:Bbs9	UTSW	9	22,705,119 (GRCm39)	missense	probably damaging	0.99
R0749:Bbs9	UTSW	9	22,486,497 (GRCm39)	splice site	probably null
R0783:Bbs9	UTSW	9	22,479,010 (GRCm39)	missense	possibly damaging	0.69
R1148:Bbs9	UTSW	9	22,486,396 (GRCm39)	splice site	probably benign
R1532:Bbs9	UTSW	9	22,798,945 (GRCm39)	missense	probably benign	0.00
R1783:Bbs9	UTSW	9	22,570,415 (GRCm39)	missense	possibly damaging	0.85
R2285:Bbs9	UTSW	9	22,590,230 (GRCm39)	missense	probably damaging	1.00
R2402:Bbs9	UTSW	9	22,557,359 (GRCm39)	missense	probably benign	0.23
R2655:Bbs9	UTSW	9	22,415,348 (GRCm39)	missense	probably damaging	1.00
R3428:Bbs9	UTSW	9	22,479,183 (GRCm39)	splice site	probably benign
R3798:Bbs9	UTSW	9	22,550,065 (GRCm39)	missense	probably damaging	1.00
R3806:Bbs9	UTSW	9	22,798,926 (GRCm39)	missense	probably damaging	0.98
R4660:Bbs9	UTSW	9	22,490,063 (GRCm39)	missense	probably benign	0.16
R4873:Bbs9	UTSW	9	22,490,011 (GRCm39)	missense	probably benign	0.06
R5291:Bbs9	UTSW	9	22,540,293 (GRCm39)	missense	probably damaging	1.00
R5364:Bbs9	UTSW	9	22,486,492 (GRCm39)	critical splice donor site	probably null
R5502:Bbs9	UTSW	9	22,415,370 (GRCm39)	missense	probably damaging	1.00
R5646:Bbs9	UTSW	9	22,490,011 (GRCm39)	missense	probably benign	0.06
R5932:Bbs9	UTSW	9	22,723,627 (GRCm39)	missense	probably damaging	1.00
R6222:Bbs9	UTSW	9	22,479,147 (GRCm39)	missense	possibly damaging	0.88
R6451:Bbs9	UTSW	9	22,479,060 (GRCm39)	missense	probably damaging	1.00
R6547:Bbs9	UTSW	9	22,425,365 (GRCm39)	missense	probably benign	0.01
R6726:Bbs9	UTSW	9	22,557,260 (GRCm39)	missense	probably benign	0.00
R6745:Bbs9	UTSW	9	22,582,132 (GRCm39)	missense	probably benign	0.00
R6908:Bbs9	UTSW	9	22,479,019 (GRCm39)	missense	probably damaging	0.96
R6919:Bbs9	UTSW	9	22,723,840 (GRCm39)	critical splice donor site	probably null
R7102:Bbs9	UTSW	9	22,490,849 (GRCm39)	missense	probably damaging	1.00
R7536:Bbs9	UTSW	9	22,582,096 (GRCm39)	missense	probably damaging	1.00
R7712:Bbs9	UTSW	9	22,582,109 (GRCm39)	missense	probably benign	0.34
R8177:Bbs9	UTSW	9	22,425,359 (GRCm39)	missense	probably benign	0.08
R8190:Bbs9	UTSW	9	22,590,284 (GRCm39)	missense	probably damaging	1.00
R8241:Bbs9	UTSW	9	22,590,214 (GRCm39)	missense	probably benign	0.00
R8440:Bbs9	UTSW	9	22,479,046 (GRCm39)	missense	probably damaging	0.99
R8733:Bbs9	UTSW	9	22,582,128 (GRCm39)	missense	probably benign	0.03
R8737:Bbs9	UTSW	9	22,590,244 (GRCm39)	missense	probably benign	0.17
R8854:Bbs9	UTSW	9	22,490,060 (GRCm39)	missense	probably damaging	1.00
R8885:Bbs9	UTSW	9	22,590,234 (GRCm39)	missense	possibly damaging	0.67
R9135:Bbs9	UTSW	9	22,490,005 (GRCm39)	missense	probably damaging	1.00
X0027:Bbs9	UTSW	9	22,566,626 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAGGCAAGATGCTAAACACAC -3'
(R):5'- AAGTGTCGACTCAAACTGTGAAAG -3'

Sequencing Primer
(F):5'- ACACACTATCTTCTTGCTTGGAAGTG -3'
(R):5'- CAGTAAAAAGCTGCTTTCCTAGATG -3'

Posted On

2016-03-17