Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01298:Btbd1'

73217

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btbd1

Ensembl Gene

ENSMUSG00000025103

Gene Name

BTB (POZ) domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

81792074-81829431 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 81794307 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026092] [ENSMUST00000026093] [ENSMUST00000152620]

Predicted Effect

probably benign
Transcript: ENSMUST00000026092

SMART Domains

Protein: ENSMUSP00000026092
Gene: ENSMUSG00000025102

Domain	Start	End	E-Value	Type
DUF167	32	108	3.17e-28	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000026093

SMART Domains

Protein: ENSMUSP00000026093
Gene: ENSMUSG00000025103

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: ENSMUST00000142557

Predicted Effect

probably benign
Transcript: ENSMUST00000152620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208375

Coding Region Coverage

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	G	T	10: 75,333,492	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,504,226	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,710,528	N186T	probably benign	Het
Ank2	A	G	3: 126,959,720	V304A	possibly damaging	Het
Atg3	T	C	16: 45,171,673	M88T	possibly damaging	Het
Baz1a	G	T	12: 54,954,809	P142Q	probably damaging	Het
Cacnb3	T	C	15: 98,639,853	Y70H	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Cyp7a1	A	T	4: 6,275,517	W19R	probably damaging	Het
Dock10	T	A	1: 80,531,245	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,848,094	D58Y	unknown	Het
Gm7168	A	T	17: 13,949,858	T496S	probably benign	Het
Gpc5	A	G	14: 115,399,188	S428G	probably benign	Het
Haus8	T	C	8: 71,253,113	E309G	probably damaging	Het
Ice1	A	G	13: 70,604,904	L1021P	possibly damaging	Het
Krtap14	A	T	16: 88,825,727	H121Q	probably benign	Het
Nwd1	T	C	8: 72,662,331	V170A	probably benign	Het
Olfr338	T	A	2: 36,377,448	M224K	probably benign	Het
Olfr803	T	C	10: 129,692,029	Y4C	probably damaging	Het
Olfr938	G	A	9: 39,078,724	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,428,673	M96T	possibly damaging	Het
Pramel5	A	G	4: 144,271,162		probably benign	Het
Proc	T	C	18: 32,123,552	N354S	probably benign	Het
Prss40	T	G	1: 34,560,766	I47L	probably benign	Het
Tmprss7	T	C	16: 45,664,175	R541G	probably benign	Het
Togaram2	T	C	17: 71,716,513	V788A	possibly damaging	Het
Trbv19	T	C	6: 41,178,904	Y70H	probably damaging	Het
Ttk	C	T	9: 83,865,142	S678L	probably benign	Het
Vmn2r85	T	C	10: 130,418,821	T665A	probably benign	Het

Other mutations in Btbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07