Mutagenetix > Incidental Mutation

Incidental Mutation 'R7102:Bbs9'

550921

Institutional Source

Beutler Lab

Gene Symbol

Bbs9

Ensembl Gene

ENSMUSG00000035919

Gene Name

Bardet-Biedl syndrome 9

Synonyms

E130103I17Rik, EST 3159894

MMRRC Submission

045194-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R7102 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22387011-22799576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 22490849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 326 (L326F)

Ref Sequence

ENSEMBL: ENSMUSP00000043042 (fasta)

Gene Model

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

AlphaFold

Q811G0

Predicted Effect

probably damaging
Transcript: ENSMUST00000039798
AA Change: L326F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043042
Gene: ENSMUSG00000035919
AA Change: L326F

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: ENSMUST00000147405
AA Change: L326F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120927
Gene: ENSMUSG00000035919
AA Change: L326F

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: L326F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122058
Gene: ENSMUSG00000035919
AA Change: L326F

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: L326F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116629
Gene: ENSMUSG00000035919
AA Change: L326F

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,285,215 (GRCm39)	H3283L	probably damaging	Het
Abcb1a	T	G	5: 8,744,072 (GRCm39)	S233A	probably benign	Het
Actr10	T	C	12: 70,999,805 (GRCm39)		probably null	Het
Acvr2b	C	T	9: 119,261,619 (GRCm39)	A380V	probably damaging	Het
Adcy5	A	G	16: 35,119,995 (GRCm39)	E1168G	probably damaging	Het
Akap12	C	T	10: 4,303,226 (GRCm39)	T117I	probably damaging	Het
Alox5	T	A	6: 116,390,429 (GRCm39)	Y516F	probably benign	Het
Amigo2	T	C	15: 97,143,741 (GRCm39)	N227S	probably damaging	Het
Anpep	C	A	7: 79,486,061 (GRCm39)	V554L	probably benign	Het
Ap5b1	T	A	19: 5,620,215 (GRCm39)	V545E	possibly damaging	Het
Bltp1	T	G	3: 36,994,947 (GRCm39)	Y990D	probably damaging	Het
Cadps	C	T	14: 12,603,738 (GRCm38)	G361R	probably damaging	Het
Ccdc57	C	A	11: 120,812,557 (GRCm39)	E66*	probably null	Het
Ccr6	G	A	17: 8,475,019 (GRCm39)	V75I	probably benign	Het
Cdk6	T	C	5: 3,570,709 (GRCm39)	F300S	probably damaging	Het
Cenpb	A	C	2: 131,020,799 (GRCm39)	V333G	probably damaging	Het
Clca4a	T	C	3: 144,667,670 (GRCm39)	I434V	probably benign	Het
Coro2b	T	A	9: 62,328,667 (GRCm39)	D447V	possibly damaging	Het
Cpeb3	T	C	19: 37,152,119 (GRCm39)	S86G	probably benign	Het
Cry2	C	A	2: 92,243,438 (GRCm39)	A468S	probably damaging	Het
Csf2rb2	T	C	15: 78,181,272 (GRCm39)	Y40C	probably damaging	Het
Ddx49	T	A	8: 70,753,726 (GRCm39)	T48S	probably damaging	Het
Dennd10	T	A	19: 60,821,034 (GRCm39)	M272K	probably damaging	Het
Dip2c	A	G	13: 9,654,572 (GRCm39)	T727A	probably benign	Het
Dnai3	A	T	3: 145,761,459 (GRCm39)	S632R	possibly damaging	Het
Ebf4	A	T	2: 130,151,651 (GRCm39)	I183F	probably benign	Het
Elavl3	G	T	9: 21,930,025 (GRCm39)	P293Q	possibly damaging	Het
Esyt1	A	T	10: 128,352,105 (GRCm39)	L768Q	probably damaging	Het
Fat2	G	A	11: 55,174,260 (GRCm39)	P2151L	probably damaging	Het
Fgfbp3	G	T	19: 36,896,606 (GRCm39)	A4E	possibly damaging	Het
Flg	T	A	3: 93,200,335 (GRCm39)	V277D	unknown	Het
Fndc3b	T	C	3: 27,524,383 (GRCm39)	D459G	possibly damaging	Het
Fras1	A	G	5: 96,718,900 (GRCm39)	Q438R	probably benign	Het
Glipr1l2	A	T	10: 111,928,330 (GRCm39)		probably null	Het
Gm7347	T	A	5: 26,262,382 (GRCm39)		probably null	Het
Grm6	G	A	11: 50,753,804 (GRCm39)	V703I	possibly damaging	Het
Gtf2h1	T	A	7: 46,468,550 (GRCm39)	V496E	probably benign	Het
Ifna12	A	G	4: 88,521,388 (GRCm39)	L53P	probably damaging	Het
Invs	T	A	4: 48,407,674 (GRCm39)	S550T	probably benign	Het
Irak2	G	T	6: 113,663,810 (GRCm39)	C453F	probably damaging	Het
Itih2	G	T	2: 10,110,574 (GRCm39)	Q506K	probably benign	Het
Kidins220	T	C	12: 25,107,662 (GRCm39)	I1614T	probably benign	Het
Krtap5-3	T	A	7: 141,755,992 (GRCm39)	C276*	probably null	Het
Lama3	T	A	18: 12,685,870 (GRCm39)	M1128K	possibly damaging	Het
Lhfpl4	C	T	6: 113,171,106 (GRCm39)	A27T	possibly damaging	Het
Lyplal1	A	G	1: 185,832,524 (GRCm39)	V77A	probably damaging	Het
Malrd1	A	T	2: 16,147,114 (GRCm39)	E1985D	unknown	Het
Mlx	A	C	11: 100,979,802 (GRCm39)	Q161P	probably benign	Het
Mroh2b	T	A	15: 4,977,485 (GRCm39)	M1279K	probably benign	Het
Myh7b	A	G	2: 155,464,119 (GRCm39)	E540G	probably damaging	Het
Neb	T	A	2: 52,194,067 (GRCm39)	D653V	probably damaging	Het
Nek10	T	A	14: 14,828,517 (GRCm38)	L113Q	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	T	A	19: 5,553,623 (GRCm39)	T53S	probably benign	Het
Ntpcr	T	A	8: 126,456,794 (GRCm39)	C5S	unknown	Het
Nwd1	A	G	8: 73,421,957 (GRCm39)	D1001G	probably damaging	Het
Or12j5	T	A	7: 140,084,229 (GRCm39)	T48S	probably benign	Het
Or14a256	C	T	7: 86,265,475 (GRCm39)	C126Y	probably benign	Het
Or4p22	T	A	2: 88,317,492 (GRCm39)	C139S	probably damaging	Het
Or6c208	A	C	10: 129,224,036 (GRCm39)	D178A	probably damaging	Het
Osbpl3	T	A	6: 50,297,115 (GRCm39)	S564C	probably damaging	Het
Pax6	C	A	2: 105,522,604 (GRCm39)	P264T	probably damaging	Het
Plppr4	T	C	3: 117,116,832 (GRCm39)	R342G	probably damaging	Het
Prg4	C	T	1: 150,328,005 (GRCm39)	C220Y	probably damaging	Het
Prune2	T	A	19: 17,098,577 (GRCm39)	D1360E	probably benign	Het
Ranbp2	T	A	10: 58,299,772 (GRCm39)	S469T	probably damaging	Het
Rbfox1	A	T	16: 7,187,698 (GRCm39)	K43N	probably benign	Het
Rgs22	T	C	15: 36,122,459 (GRCm39)	D25G	probably damaging	Het
Rnf113a2	G	A	12: 84,464,545 (GRCm39)	G146S	probably damaging	Het
Sbpl	T	A	17: 24,173,608 (GRCm39)	K55*	probably null	Het
Scel	G	A	14: 103,781,268 (GRCm39)	W138*	probably null	Het
Scgb2b19	T	C	7: 32,979,711 (GRCm39)	I12V	probably null	Het
Scn9a	T	A	2: 66,379,359 (GRCm39)	M358L	probably damaging	Het
Sdk2	C	A	11: 113,733,516 (GRCm39)	E924*	probably null	Het
Sipa1l3	T	C	7: 29,048,012 (GRCm39)	Q1292R	possibly damaging	Het
Skint4	G	A	4: 111,975,298 (GRCm39)	G86D	probably damaging	Het
Slc28a3	C	T	13: 58,736,028 (GRCm39)	V57I	probably benign	Het
Slc9a4	T	C	1: 40,662,559 (GRCm39)	S609P	probably damaging	Het
Slc9a4	C	T	1: 40,619,799 (GRCm39)	P42S	probably benign	Het
Slitrk1	T	A	14: 109,150,061 (GRCm39)	T217S	probably benign	Het
Spindoc	C	T	19: 7,335,807 (GRCm39)	R327H	probably benign	Het
Stk36	T	C	1: 74,661,382 (GRCm39)	S470P	probably benign	Het
Sypl1	C	T	12: 33,024,254 (GRCm39)	P196L	probably benign	Het
Tekt4	T	A	17: 25,693,718 (GRCm39)	I285N	probably damaging	Het
Tgm5	T	A	2: 120,876,979 (GRCm39)	I686F	possibly damaging	Het
Thsd4	C	A	9: 59,883,587 (GRCm39)	R933L	probably damaging	Het
Treml1	T	A	17: 48,673,700 (GRCm39)	I237N	probably damaging	Het
Txndc16	T	C	14: 45,442,839 (GRCm39)	I119V	probably benign	Het
Ubr3	C	A	2: 69,728,166 (GRCm39)	N176K	probably damaging	Het
Vit	A	G	17: 78,932,426 (GRCm39)	Y511C	probably damaging	Het
Vwa5b2	G	A	16: 20,422,984 (GRCm39)	G994D	probably benign	Het
Wnk1	T	C	6: 119,925,268 (GRCm39)	T1648A	unknown	Het
Ythdf1	G	A	2: 180,553,315 (GRCm39)	T300I	probably damaging	Het
Zan	A	G	5: 137,452,462 (GRCm39)		probably null	Het
Zbbx	A	G	3: 75,019,401 (GRCm39)	L103P	probably benign	Het
Zfp105	A	G	9: 122,758,869 (GRCm39)	D180G	probably damaging	Het
Zfp114	T	A	7: 23,880,083 (GRCm39)	L144Q	possibly damaging	Het
Zfp128	T	C	7: 12,624,399 (GRCm39)	C256R	probably damaging	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
R4875: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
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'- AAGTTTCCCATAAGAGACCAGAG -3'
(R):5'- CTGTTATCTTCAACAGTGTTCAGC -3'

Sequencing Primer
(F):5'- CCAGAGTGCACTATTTTGAATGGCC -3'
(R):5'- GGGTAAGTCCTCAGAAATATTAAGTG -3'

Posted On

2019-05-15