Mutagenetix > Incidental Mutation

Incidental Mutation 'R2159:Btbd1'

235048

Institutional Source

Beutler Lab

Gene Symbol

Btbd1

Ensembl Gene

ENSMUSG00000025103

Gene Name

BTB domain containing 1

Synonyms

1190005H08Rik

MMRRC Submission

040162-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R2159 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81441822-81479179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81450804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 325 (D325E)

Ref Sequence

ENSEMBL: ENSMUSP00000026093 (fasta)

Gene Model

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

AlphaFold

P58544

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026093
AA Change: D325E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026093
Gene: ENSMUSG00000025103
AA Change: D325E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	G	A	12: 81,607,241 (GRCm39)	P174S	probably benign	Het
Aida	C	T	1: 183,103,234 (GRCm39)	P185S	probably benign	Het
Alg11	T	G	8: 22,555,861 (GRCm39)	I374R	probably benign	Het
Ano9	T	C	7: 140,688,030 (GRCm39)	I229V	probably benign	Het
Apob	A	T	12: 8,060,081 (GRCm39)	L2821F	probably benign	Het
Atp10b	C	T	11: 43,042,680 (GRCm39)	T80I	possibly damaging	Het
BC024139	T	C	15: 76,005,688 (GRCm39)	H478R	probably damaging	Het
Camk2a	G	A	18: 61,090,257 (GRCm39)	C199Y	probably damaging	Het
Casp3	A	G	8: 47,087,323 (GRCm39)	D90G	probably damaging	Het
Ccnt2	A	G	1: 127,702,891 (GRCm39)	H71R	probably benign	Het
Cdk2ap1	G	A	5: 124,486,667 (GRCm39)	R65*	probably null	Het
Cebpb	G	T	2: 167,531,173 (GRCm39)	A78S	probably benign	Het
Col5a3	A	G	9: 20,682,606 (GRCm39)	F1613L	unknown	Het
Cpd	T	C	11: 76,688,467 (GRCm39)	D935G	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cwc27	A	G	13: 104,940,837 (GRCm39)	I174T	probably damaging	Het
Cyp21a1	C	A	17: 35,021,378 (GRCm39)	R331L	probably benign	Het
Dnah5	A	G	15: 28,252,691 (GRCm39)	T795A	probably benign	Het
Eif2ak2	A	G	17: 79,181,447 (GRCm39)	V100A	possibly damaging	Het
Foxa3	A	G	7: 18,748,109 (GRCm39)	V339A	probably benign	Het
Gp2	T	C	7: 119,051,507 (GRCm39)	D236G	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gzmd	T	A	14: 56,368,153 (GRCm39)	H102L	probably damaging	Het
Klk1b1	A	T	7: 43,619,857 (GRCm39)	I139F	probably damaging	Het
Lcmt2	G	A	2: 120,969,766 (GRCm39)	P439L	probably damaging	Het
Loxl4	C	T	19: 42,588,446 (GRCm39)	A570T	probably damaging	Het
Mga	T	A	2: 119,750,124 (GRCm39)	H674Q	probably damaging	Het
Mybpc3	A	T	2: 90,955,715 (GRCm39)	K583M	probably damaging	Het
Ncoa6	G	T	2: 155,249,633 (GRCm39)	P1224T	probably damaging	Het
Nostrin	A	G	2: 69,011,266 (GRCm39)		probably null	Het
Or13e8	T	C	4: 43,697,110 (GRCm39)	H21R	probably benign	Het
Or4c3	A	T	2: 89,851,882 (GRCm39)	V176E	probably damaging	Het
Oxsr1	A	C	9: 119,133,880 (GRCm39)	D58E	possibly damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Phf10	C	T	17: 15,172,926 (GRCm39)	E304K	probably damaging	Het
Prmt5	T	C	14: 54,752,795 (GRCm39)	T139A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptp4a3	A	G	15: 73,623,865 (GRCm39)	T32A	probably benign	Het
Pwwp2b	A	T	7: 138,834,844 (GRCm39)	D95V	possibly damaging	Het
Rad51ap2	T	C	12: 11,507,752 (GRCm39)	L558S	possibly damaging	Het
Rapgef4	A	G	2: 72,005,225 (GRCm39)	D80G	probably damaging	Het
Sec24a	T	G	11: 51,603,177 (GRCm39)	H757P	probably damaging	Het
Sema4d	T	C	13: 51,874,571 (GRCm39)	N129D	probably damaging	Het
Serpini1	A	G	3: 75,531,251 (GRCm39)	T323A	probably benign	Het
Setd1a	G	A	7: 127,384,661 (GRCm39)	R504H	possibly damaging	Het
Sftpb	T	C	6: 72,286,770 (GRCm39)	C226R	probably damaging	Het
Sp8	T	C	12: 118,812,441 (GRCm39)	S99P	possibly damaging	Het
Srgap3	A	G	6: 112,748,339 (GRCm39)	F438L	probably damaging	Het
Stim2	T	C	5: 54,267,156 (GRCm39)	Y365H	probably damaging	Het
Stk36	A	G	1: 74,673,896 (GRCm39)	Q1263R	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Troap	G	T	15: 98,975,467 (GRCm39)	A184S	probably damaging	Het
Ttn	G	A	2: 76,729,671 (GRCm39)		probably benign	Het
Vmn2r108	C	A	17: 20,689,363 (GRCm39)	A531S	probably benign	Het
Vmn2r12	T	A	5: 109,239,340 (GRCm39)	I408F	probably benign	Het
Vmn2r8	T	A	5: 108,950,169 (GRCm39)	E226V	probably benign	Het
Vmo1	A	G	11: 70,404,608 (GRCm39)	F131S	probably benign	Het
Vwf	T	C	6: 125,603,304 (GRCm39)	F885L	probably damaging	Het
Wdpcp	A	T	11: 21,807,476 (GRCm39)	M618L	probably benign	Het
Wdr90	T	C	17: 26,070,715 (GRCm39)	E1072G	probably benign	Het

Other mutations in Btbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01298:Btbd1	APN	7	81,444,055 (GRCm39)	splice site	probably null
IGL01476:Btbd1	APN	7	81,450,797 (GRCm39)	nonsense	probably null
IGL02261:Btbd1	APN	7	81,455,507 (GRCm39)	missense	probably damaging	0.98
R0164:Btbd1	UTSW	7	81,450,751 (GRCm39)	missense	probably benign	0.28
R0164:Btbd1	UTSW	7	81,450,751 (GRCm39)	missense	probably benign	0.28
R0600:Btbd1	UTSW	7	81,465,754 (GRCm39)	missense	probably damaging	1.00
R1221:Btbd1	UTSW	7	81,468,005 (GRCm39)	missense	possibly damaging	0.79
R3961:Btbd1	UTSW	7	81,468,083 (GRCm39)	nonsense	probably null
R4769:Btbd1	UTSW	7	81,455,558 (GRCm39)	missense	probably benign	0.04
R7159:Btbd1	UTSW	7	81,467,957 (GRCm39)	missense	probably benign	0.44
R7331:Btbd1	UTSW	7	81,465,720 (GRCm39)	missense	probably damaging	1.00
R9197:Btbd1	UTSW	7	81,443,363 (GRCm39)	missense	probably damaging	1.00
R9310:Btbd1	UTSW	7	81,478,985 (GRCm39)	missense	probably damaging	1.00
R9522:Btbd1	UTSW	7	81,479,081 (GRCm39)	missense	unknown
R9686:Btbd1	UTSW	7	81,455,598 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCTCATCCTGTATTAAGCAAAC -3'
(R):5'- CAGGTTAGCCTCAAAGCGATTG -3'

Sequencing Primer
(F):5'- ATACTTGTTAACAACCTCTCACAAG -3'
(R):5'- TTAGCCTCAAAGCGATTGACTAAAAC -3'

Posted On

2014-10-01