Mutagenetix > Incidental Mutations

Incidental Mutation 'R1061:Btbd9'

94548

Institutional Source

Beutler Lab

Gene Symbol

Btbd9

Ensembl Gene

ENSMUSG00000062202

Gene Name

BTB (POZ) domain containing 9

Synonyms

1700023F20Rik

MMRRC Submission

039147-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30215524-30576287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30527435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 139 (I139T)

Ref Sequence

ENSEMBL: ENSMUSP00000127300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079924] [ENSMUST00000168787]

AlphaFold

Q8C726

Predicted Effect

probably benign
Transcript: ENSMUST00000079924
AA Change: I139T

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

SMART Domains

Protein: ENSMUSP00000078845
Gene: ENSMUSG00000062202
AA Change: I139T

Domain	Start	End	E-Value	Type
BTB	36	137	3.52e-25	SMART
BACK	143	240	1.84e-18	SMART
Pfam:F5_F8_type_C	283	405	3.9e-11	PFAM
Pfam:F5_F8_type_C	431	554	6.3e-12	PFAM
low complexity region	585	612	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168787
AA Change: I139T

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

SMART Domains

Protein: ENSMUSP00000127300
Gene: ENSMUSG00000062202
AA Change: I139T

Domain	Start	End	E-Value	Type
BTB	36	137	3.52e-25	SMART
BACK	143	240	1.84e-18	SMART
Pfam:F5_F8_type_C	278	405	1.1e-8	PFAM
Pfam:F5_F8_type_C	433	554	1.4e-8	PFAM
low complexity region	585	612	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele show hyperactivity, unidirectional circling, sleep disturbances, thermal sensory alterations, increased serum iron levels, altered serotonin metabolism, enhanced long-term potentiation and paired-pulse ratios, and enhanced cued and contextual fear memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,277,809	A715T	probably benign	Het
Ampd2	A	G	3: 108,075,689	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,398,191	V171E	probably damaging	Het
Arid4a	T	A	12: 71,074,955	S381R	probably damaging	Het
Armc8	T	G	9: 99,537,731	N51H	probably damaging	Het
Asic5	T	A	3: 82,021,001	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,164,069	K471*	probably null	Het
Birc6	A	G	17: 74,689,312	T4494A	probably damaging	Het
Ccdc114	T	C	7: 45,941,755	I218T	probably damaging	Het
Ccdc60	C	A	5: 116,172,468	R178S	possibly damaging	Het
Cd163	C	T	6: 124,309,169	A226V	probably benign	Het
Cog1	T	G	11: 113,652,037	S170A	probably benign	Het
Cwc15	T	C	9: 14,507,915	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,986,833	D333E	probably benign	Het
Ddc	C	T	11: 11,829,132	V331I	probably benign	Het
Dlc1	T	A	8: 36,858,051	T367S	probably benign	Het
Dnah17	T	C	11: 118,052,688	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,545,065	Y165*	probably null	Het
Eml6	T	C	11: 29,777,267	D1285G	probably damaging	Het
Fam92b	C	A	8: 120,169,704		probably null	Het
Fasn	T	C	11: 120,822,182		probably null	Het
Fbn1	T	C	2: 125,345,963	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713	Y384C	probably damaging	Het
Flvcr1	A	T	1: 191,008,173	V550E	probably benign	Het
Gcm2	A	G	13: 41,105,871	W41R	probably damaging	Het
Gli2	A	T	1: 118,854,517	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,150,307	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,204,155	S66T	probably benign	Het
Hsph1	A	T	5: 149,618,418	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,796,862	V220M	probably damaging	Het
Klhl25	T	A	7: 75,866,520	Y391*	probably null	Het
Mc2r	A	T	18: 68,407,809	Y138N	probably damaging	Het
Mtap	C	A	4: 89,156,584	D106E	probably benign	Het
Nup43	G	T	10: 7,667,671	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,326,363	E197D	probably damaging	Het
Olfr1098	A	T	2: 86,922,782	V250D	possibly damaging	Het
Olfr484	T	C	7: 108,124,456	Y269C	probably damaging	Het
Olfr544	T	A	7: 102,484,114	*335C	probably null	Het
Olfr934	C	A	9: 38,982,483	C187F	probably damaging	Het
Pitrm1	A	G	13: 6,555,575	H186R	probably damaging	Het
Pklr	C	T	3: 89,144,881	R467C	probably damaging	Het
Plxna2	A	G	1: 194,644,093	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,508,614		probably null	Het
R3hcc1l	C	T	19: 42,583,426	R135*	probably null	Het
Ralyl	A	C	3: 14,115,701	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
S100a1	T	C	3: 90,511,312	N65S	probably damaging	Het
Scn11a	A	T	9: 119,795,663	M531K	probably damaging	Het
Slc5a5	T	A	8: 70,890,221	M232L	probably benign	Het
Tet3	A	T	6: 83,373,323	N1054K	probably damaging	Het
Tg	A	G	15: 66,698,559	N1427D	probably benign	Het
Tns1	A	C	1: 73,917,672	V530G	probably damaging	Het
Trcg1	C	A	9: 57,245,873	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,768,706	E40G	probably damaging	Het
Usp34	T	C	11: 23,384,420	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,061,644	T726I	probably benign	Het
Vmn2r97	A	T	17: 18,928,178	R112*	probably null	Het
Vwa2	G	T	19: 56,908,994	R577L	probably benign	Het
Vwa3b	A	C	1: 37,157,430	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,992,799		probably null	Het
Wrap53	A	G	11: 69,562,400	L405P	probably damaging	Het
Zfp629	C	A	7: 127,611,989	W216L	probably damaging	Het

Other mutations in Btbd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01519:Btbd9	APN	17	30299601	missense	possibly damaging	0.71
IGL01651:Btbd9	APN	17	30220417	missense	unknown
IGL01814:Btbd9	APN	17	30299535	missense	probably benign	0.01
IGL01820:Btbd9	APN	17	30527409	missense	possibly damaging	0.82
IGL02014:Btbd9	APN	17	30517150	missense	probably damaging	0.98
IGL02075:Btbd9	APN	17	30274936	nonsense	probably null
IGL02390:Btbd9	APN	17	30524814	missense	probably benign	0.22
IGL02414:Btbd9	APN	17	30220559	missense	possibly damaging	0.95
IGL02748:Btbd9	APN	17	30334297	missense	possibly damaging	0.81
crumbs	UTSW	17	30299736	splice site	probably null
grain	UTSW	17	30274942	missense	possibly damaging	0.92
R0023:Btbd9	UTSW	17	30530214	missense	probably damaging	0.96
R0023:Btbd9	UTSW	17	30530214	missense	probably damaging	0.96
R0122:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0123:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0134:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0189:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0190:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0226:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0268:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0344:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0427:Btbd9	UTSW	17	30274942	missense	possibly damaging	0.92
R0462:Btbd9	UTSW	17	30530217	missense	possibly damaging	0.82
R0645:Btbd9	UTSW	17	30524967	missense	probably damaging	0.96
R0973:Btbd9	UTSW	17	30299633	missense	probably damaging	0.99
R0973:Btbd9	UTSW	17	30299633	missense	probably damaging	0.99
R0974:Btbd9	UTSW	17	30299633	missense	probably damaging	0.99
R1763:Btbd9	UTSW	17	30334297	missense	possibly damaging	0.81
R1781:Btbd9	UTSW	17	30513593	missense	probably damaging	1.00
R1902:Btbd9	UTSW	17	30530228	missense	probably damaging	0.98
R1995:Btbd9	UTSW	17	30274930	missense	possibly damaging	0.93
R2224:Btbd9	UTSW	17	30527346	missense	probably damaging	0.98
R2237:Btbd9	UTSW	17	30334328	missense	probably benign
R3684:Btbd9	UTSW	17	30334307	missense	probably damaging	0.99
R3800:Btbd9	UTSW	17	30513659	missense	possibly damaging	0.89
R4403:Btbd9	UTSW	17	30485932	intron	probably benign
R4492:Btbd9	UTSW	17	30527571	missense	probably damaging	0.99
R4654:Btbd9	UTSW	17	30485587	intron	probably benign
R4854:Btbd9	UTSW	17	30524865	missense	probably damaging	0.98
R5710:Btbd9	UTSW	17	30228868	missense	probably benign	0.16
R5963:Btbd9	UTSW	17	30334218	splice site	probably null
R6295:Btbd9	UTSW	17	30299736	splice site	probably null
R6422:Btbd9	UTSW	17	30530256	missense	probably benign
R7023:Btbd9	UTSW	17	30527572	missense	probably benign	0.02
R7826:Btbd9	UTSW	17	30334327	missense	probably benign	0.42
R7922:Btbd9	UTSW	17	30274884	missense	probably benign	0.01
R7962:Btbd9	UTSW	17	30517203	missense	probably damaging	0.99
R8265:Btbd9	UTSW	17	30334304	missense	possibly damaging	0.86
R8786:Btbd9	UTSW	17	30530170	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACCAGATGACTGCTTTGAGCGAG -3'
(R):5'- CATTACTGTATGGCGGGATGCGAG -3'

Sequencing Primer
(F):5'- AGGGTTTTGATTCTTGGACCAC -3'
(R):5'- GAAGCAGAGATCCCTCTCCAAG -3'

Posted On

2014-01-05