Mutagenetix > Incidental Mutation

Incidental Mutation 'R4827:Btbd2'

372514

Institutional Source

Beutler Lab

Gene Symbol

Btbd2

Ensembl Gene

ENSMUSG00000003344

Gene Name

BTB domain containing 2

Synonyms

4930512K17Rik, 2610037C03Rik

MMRRC Submission

042443-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R4827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80478457-80492328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80482223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 244 (I244T)

Ref Sequence

ENSEMBL: ENSMUSP00000120751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003434] [ENSMUST00000126980]

AlphaFold

E9PUS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000003434
AA Change: I259T

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

SMART Domains

Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
AA Change: I259T

Domain	Start	End	E-Value	Type
low complexity region	27	68	N/A	INTRINSIC
BTB	115	215	9.96e-25	SMART
BACK	220	328	6.36e-13	SMART
Pfam:PHR	373	522	7.1e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000126980
AA Change: I244T

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

SMART Domains

Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
AA Change: I244T

Domain	Start	End	E-Value	Type
low complexity region	12	53	N/A	INTRINSIC
BTB	100	200	9.96e-25	SMART
BACK	205	313	6.36e-13	SMART
Pfam:PHR	358	508	4.3e-54	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000131876
AA Change: I128T

SMART Domains

Protein: ENSMUSP00000120780
Gene: ENSMUSG00000003344
AA Change: I128T

Domain	Start	End	E-Value	Type
BTB	2	85	4.38e-12	SMART
BACK	90	199	1.21e-13	SMART
PDB:3NO8\|B	234	256	1e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151794

Meta Mutation Damage Score

0.8531

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

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. [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
Adck1	A	G	12: 88,413,489 (GRCm39)	R274G	probably benign	Het
Agbl5	T	G	5: 31,053,158 (GRCm39)	S83R	probably damaging	Het
Ankib1	A	G	5: 3,751,907 (GRCm39)	I711T	probably damaging	Het
Arnt	T	A	3: 95,397,224 (GRCm39)		probably null	Het
Atad2	C	G	15: 57,971,744 (GRCm39)	V702L	probably benign	Het
B4galnt4	A	G	7: 140,648,392 (GRCm39)	E636G	probably benign	Het
Cenpc1	A	T	5: 86,182,290 (GRCm39)	N531K	possibly damaging	Het
Ces3b	T	A	8: 105,813,527 (GRCm39)	M266K	probably benign	Het
Cfap54	A	T	10: 92,737,937 (GRCm39)		probably benign	Het
Coq8a	A	G	1: 179,994,903 (GRCm39)	V590A	possibly damaging	Het
Drc7	A	G	8: 95,798,267 (GRCm39)	Y504C	probably damaging	Het
Elovl4	T	C	9: 83,688,091 (GRCm39)	M1V	probably null	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fads2	A	G	19: 10,059,958 (GRCm39)	F239L	probably benign	Het
Gcc2	A	T	10: 58,121,953 (GRCm39)		probably null	Het
Ggact	C	T	14: 123,128,987 (GRCm39)	R76H	probably benign	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm3739	A	T	14: 18,506,218 (GRCm39)	F13I	probably damaging	Het
Gng2	T	C	14: 19,925,898 (GRCm39)	K65E	possibly damaging	Het
Gnmt	A	G	17: 47,038,245 (GRCm39)	Y94H	possibly damaging	Het
Gzme	C	A	14: 56,356,755 (GRCm39)	R69M	probably null	Het
Hdc	G	A	2: 126,436,233 (GRCm39)	P546L	probably benign	Het
Ibtk	C	A	9: 85,610,607 (GRCm39)	V326F	probably benign	Het
Inpp5b	G	T	4: 124,637,643 (GRCm39)		probably benign	Het
Kcnh7	A	T	2: 62,546,564 (GRCm39)	C1006S	probably benign	Het
Kcnk18	A	T	19: 59,208,362 (GRCm39)	N66I	probably damaging	Het
Lpar6	T	A	14: 73,476,190 (GRCm39)	N50K	probably damaging	Het
Lrba	G	T	3: 86,267,457 (GRCm39)	D1716Y	possibly damaging	Het
Ltf	T	A	9: 110,856,445 (GRCm39)		probably benign	Het
Map3k6	A	G	4: 132,976,160 (GRCm39)	T794A	possibly damaging	Het
Mcm8	A	G	2: 132,665,174 (GRCm39)	T217A	probably damaging	Het
Meaf6	A	G	4: 124,996,713 (GRCm39)	E141G	probably damaging	Het
Mmp13	A	G	9: 7,278,880 (GRCm39)	T324A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msl2	T	G	9: 100,979,350 (GRCm39)	F575V	probably benign	Het
Ncoa4-ps	C	T	12: 119,225,529 (GRCm39)		noncoding transcript	Het
Nlrp2	A	T	7: 5,331,950 (GRCm39)	W149R	possibly damaging	Het
Ntng1	C	A	3: 110,042,727 (GRCm39)	C33F	probably damaging	Het
Nxn	A	G	11: 76,152,418 (GRCm39)	Y359H	probably benign	Het
Olfml2a	A	C	2: 38,850,033 (GRCm39)	D583A	probably damaging	Het
Or12j5	A	C	7: 140,083,583 (GRCm39)	L263R	probably damaging	Het
Or1e32	A	T	11: 73,705,547 (GRCm39)	Y120*	probably null	Het
Or2t48	A	G	11: 58,420,422 (GRCm39)	I130T	probably damaging	Het
Or4b1b	A	T	2: 90,112,547 (GRCm39)	I124N	probably damaging	Het
Or51ac3	A	T	7: 103,213,752 (GRCm39)	S245T	probably damaging	Het
Pcdha4	T	C	18: 37,086,251 (GRCm39)	S145P	probably damaging	Het
Pcsk2	A	T	2: 143,643,099 (GRCm39)	K459*	probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Plch2	A	G	4: 155,075,570 (GRCm39)	F653S	probably damaging	Het
Plpp3	T	C	4: 105,088,167 (GRCm39)	I296T	probably benign	Het
Polr2b	A	G	5: 77,490,398 (GRCm39)	E846G	probably benign	Het
Ptpro	A	T	6: 137,419,708 (GRCm39)	N157Y	probably damaging	Het
Ralgapa1	A	G	12: 55,723,222 (GRCm39)	L1815P	probably damaging	Het
Sap18	A	G	14: 58,036,020 (GRCm39)	N69D	probably damaging	Het
Sncg	C	A	14: 34,095,284 (GRCm39)	V74F	probably damaging	Het
Spata31e2	T	C	1: 26,724,923 (GRCm39)	K86E	possibly damaging	Het
Spmip4	A	C	6: 50,572,836 (GRCm39)	S26A	possibly damaging	Het
Tmem186	A	T	16: 8,453,681 (GRCm39)	Y193*	probably null	Het
Trrap	A	G	5: 144,737,758 (GRCm39)	S1045G	probably benign	Het
Tti2	T	G	8: 31,640,998 (GRCm39)	S41A	probably benign	Het
Unc13c	T	C	9: 73,838,568 (GRCm39)	E761G	probably damaging	Het
Vamp2	T	A	11: 68,980,637 (GRCm39)	D68E	probably benign	Het
Vmn1r200	A	T	13: 22,579,265 (GRCm39)	M14L	probably benign	Het
Vps35	T	A	8: 86,000,186 (GRCm39)	D480V	possibly damaging	Het
Zfp462	T	C	4: 55,012,213 (GRCm39)	L1393P	probably damaging	Het
Zfp512	G	A	5: 31,630,158 (GRCm39)	M274I	probably benign	Het
Znfx1	C	G	2: 166,886,151 (GRCm39)	G803A	possibly damaging	Het

Other mutations in Btbd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
brachio	UTSW	10	80,481,365 (GRCm39)	missense	probably damaging	1.00
R0245:Btbd2	UTSW	10	80,483,640 (GRCm39)	missense	probably damaging	1.00
R1794:Btbd2	UTSW	10	80,479,747 (GRCm39)	missense	probably damaging	1.00
R1960:Btbd2	UTSW	10	80,480,539 (GRCm39)	missense	probably benign	0.06
R5197:Btbd2	UTSW	10	80,482,253 (GRCm39)	missense	probably damaging	0.98
R5372:Btbd2	UTSW	10	80,484,475 (GRCm39)	missense	probably damaging	0.99
R6108:Btbd2	UTSW	10	80,481,365 (GRCm39)	missense	probably damaging	1.00
R6316:Btbd2	UTSW	10	80,480,612 (GRCm39)	missense	probably damaging	0.98
R6355:Btbd2	UTSW	10	80,481,183 (GRCm39)	missense	possibly damaging	0.81
R6872:Btbd2	UTSW	10	80,480,166 (GRCm39)	missense	probably damaging	0.99
R7016:Btbd2	UTSW	10	80,484,449 (GRCm39)	missense	probably damaging	1.00
R7300:Btbd2	UTSW	10	80,480,100 (GRCm39)	missense	probably damaging	1.00
R7524:Btbd2	UTSW	10	80,482,278 (GRCm39)	missense	probably damaging	0.97
R7617:Btbd2	UTSW	10	80,482,226 (GRCm39)	missense	probably damaging	1.00
R7756:Btbd2	UTSW	10	80,484,440 (GRCm39)	missense	probably benign	0.05
R7762:Btbd2	UTSW	10	80,479,390 (GRCm39)	missense	probably damaging	1.00
R8696:Btbd2	UTSW	10	80,480,515 (GRCm39)	missense	possibly damaging	0.83
R9321:Btbd2	UTSW	10	80,483,675 (GRCm39)	missense	probably damaging	0.99
R9484:Btbd2	UTSW	10	80,480,103 (GRCm39)	missense	probably benign	0.01
R9655:Btbd2	UTSW	10	80,492,045 (GRCm39)	missense	probably benign	0.40
R9784:Btbd2	UTSW	10	80,484,481 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCAGGTATCACAGTGATCC -3'
(R):5'- TGTCAGATACCCATGGCTCC -3'

Sequencing Primer
(F):5'- GGTAAGTCCTCAGACACAGGC -3'
(R):5'- CATGCTGGGCAGACTGGTAG -3'

Posted On

2016-03-01