Mutagenetix > Incidental Mutations

Incidental Mutation 'R0164:Btbd1'

24339

Institutional Source

Beutler Lab

Gene Symbol

Btbd1

Ensembl Gene

ENSMUSG00000025103

Gene Name

BTB (POZ) domain containing 1

Synonyms

MMRRC Submission

038440-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R0164 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81792074-81829431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81801003 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 343 (Q343L)

Ref Sequence

ENSEMBL: ENSMUSP00000026093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026093]

Predicted Effect

probably benign
Transcript: ENSMUST00000026093
AA Change: Q343L

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026093
Gene: ENSMUSG00000025103
AA Change: Q343L

Domain	Start	End	E-Value	Type
low complexity region	5	45	N/A	INTRINSIC
BTB	75	181	2.73e-22	SMART
BACK	186	294	8.02e-10	SMART
Pfam:PHR	339	487	2.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208566

Meta Mutation Damage Score

0.3249

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

69% (18/26)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
4930522L14Rik	T	C	5: 109,736,847	K382E	probably damaging	Het
Adck1	A	G	12: 88,455,510	E297G	probably damaging	Het
Aldh3a2	C	T	11: 61,248,888	V473I	probably benign	Het
Arfgef3	A	T	10: 18,647,915	I369K	possibly damaging	Het
Atp1b3	T	C	9: 96,338,709	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,378,386	E520G	possibly damaging	Het
BB019430	A	T	10: 58,704,271		noncoding transcript	Het
Catsper1	A	G	19: 5,339,475	T473A	possibly damaging	Het
Chmp6	G	A	11: 119,915,523		probably null	Het
D130040H23Rik	T	C	8: 69,302,543	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,364,331		noncoding transcript	Het
Dcaf1	T	A	9: 106,844,145	S379T	possibly damaging	Het
Dhx58	T	C	11: 100,695,324	I624V	probably benign	Het
Disp3	T	C	4: 148,254,251	E821G	probably damaging	Het
Dlc1	T	A	8: 36,599,440	E464V	probably damaging	Het
Dnah10	G	A	5: 124,783,834	V2151I	probably damaging	Het
Dnah8	G	A	17: 30,748,665	G2617D	probably benign	Het
Dnah9	C	A	11: 65,918,804	E872*	probably null	Het
Dock9	T	C	14: 121,597,665	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,716,646	I310F	probably damaging	Het
Fggy	A	T	4: 95,837,654	I137F	probably damaging	Het
Gm14012	C	T	2: 128,238,016		noncoding transcript	Het
Gm14421	A	T	2: 177,056,722		noncoding transcript	Het
Gm5689	T	A	18: 42,173,543	D58E	probably damaging	Het
Grin2a	A	G	16: 9,994,821		probably null	Het
Incenp	A	G	19: 9,894,879	S72P	probably benign	Het
Klc3	T	A	7: 19,394,926	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,247,505	S88P	probably benign	Het
Lrrc49	G	A	9: 60,680,600	T93I	probably benign	Het
Mlycd	A	T	8: 119,407,641	Q294L	probably damaging	Het
Mrpl22	T	A	11: 58,171,821	I19N	probably benign	Het
Msh3	T	A	13: 92,349,209	K202N	probably damaging	Het
Mucl2	C	T	15: 103,899,179		probably null	Het
Ncam1	C	T	9: 49,568,409	D90N	probably damaging	Het
Nckap5	A	T	1: 126,024,407	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,186,731		probably null	Het
Nlrp1b	A	T	11: 71,164,099	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,469,150	N168K	possibly damaging	Het
Olfr1446	A	G	19: 12,890,445	L44P	probably damaging	Het
Ost4	T	C	5: 30,907,459	H26R	probably damaging	Het
Otog	G	A	7: 46,304,231	V2638M	probably damaging	Het
Otogl	A	T	10: 107,874,530	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,470,186	S282P	probably damaging	Het
Prkcg	G	A	7: 3,329,119	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,887,089		probably null	Het
Scmh1	T	C	4: 120,529,865		probably benign	Het
Sgo2b	T	C	8: 63,938,383	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,829,037	T5P	probably damaging	Het
Tdp2	A	G	13: 24,838,239	M214V	probably damaging	Het
Tmem204	A	G	17: 25,058,350	I187T	probably damaging	Het
Tmem208	T	G	8: 105,334,694	D117E	probably benign	Het
Tnks1bp1	C	T	2: 85,059,221	P631S	possibly damaging	Het
Tomm70a	T	C	16: 57,147,821	V517A	probably damaging	Het
Ttc7	T	C	17: 87,379,895	V801A	probably damaging	Het
Txndc5	A	T	13: 38,507,953	C146S	probably damaging	Het
Ube4b	G	T	4: 149,360,324	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008	Y504N	probably benign	Het
Ulk3	T	A	9: 57,590,686	I90N	probably damaging	Het
Unc13c	T	C	9: 73,694,892	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vmn2r91	A	C	17: 18,106,137	N228T	probably benign	Het
Wisp1	T	C	15: 66,919,210	L287P	probably damaging	Het
Zbtb6	G	T	2: 37,429,588	Y109*	probably null	Het
Zfp640	C	A	13: 66,670,974		noncoding transcript	Het
Zfp640	G	T	13: 66,670,998		noncoding transcript	Het
Zfp980	A	G	4: 145,701,997	D432G	probably benign	Het

Other mutations in Btbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01298:Btbd1	APN	7	81794307	splice site	probably null
IGL01476:Btbd1	APN	7	81801049	nonsense	probably null
IGL02261:Btbd1	APN	7	81805759	missense	probably damaging	0.98
R0164:Btbd1	UTSW	7	81801003	missense	probably benign	0.28
R0600:Btbd1	UTSW	7	81816006	missense	probably damaging	1.00
R1221:Btbd1	UTSW	7	81818257	missense	possibly damaging	0.79
R2159:Btbd1	UTSW	7	81801056	missense	possibly damaging	0.94
R3961:Btbd1	UTSW	7	81818335	nonsense	probably null
R4769:Btbd1	UTSW	7	81805810	missense	probably benign	0.04
R7159:Btbd1	UTSW	7	81818209	missense	probably benign	0.44
R7331:Btbd1	UTSW	7	81815972	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-04-16