Mutagenetix > Incidental Mutation

Incidental Mutation 'R7756:Btbd2'

597561

Institutional Source

Beutler Lab

Gene Symbol

Btbd2

Ensembl Gene

ENSMUSG00000003344

Gene Name

BTB domain containing 2

Synonyms

4930512K17Rik, 2610037C03Rik

MMRRC Submission

045812-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.331) question?

Stock #

R7756 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80478457-80492328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80484440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 159 (I159V)

Ref Sequence

ENSEMBL: ENSMUSP00000003434 (fasta)

Gene Model

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

AlphaFold

E9PUS2

Predicted Effect

probably benign
Transcript: ENSMUST00000003434
AA Change: I159V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
AA Change: I159V

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 benign
Transcript: ENSMUST00000126980
AA Change: I144V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
AA Change: I144V

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

SMART Domains

Protein: ENSMUSP00000120780
Gene: ENSMUSG00000003344
AA Change: I28V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd60	T	C	2: 173,410,562 (GRCm39)	*319W	probably null	Het
Bpnt2	A	T	4: 4,769,385 (GRCm39)	H243Q	probably damaging	Het
Brd4	A	G	17: 32,417,956 (GRCm39)	I1157T	unknown	Het
Card6	G	A	15: 5,129,378 (GRCm39)	Q673*	probably null	Het
Cdyl	T	A	13: 36,056,624 (GRCm39)	Y585N	probably damaging	Het
Cep192	A	C	18: 67,989,384 (GRCm39)	I1844L	possibly damaging	Het
Cfap99	G	T	5: 34,459,952 (GRCm39)	C105F	probably damaging	Het
Clcn6	T	C	4: 148,113,896 (GRCm39)	D54G	probably damaging	Het
Dennd5a	T	C	7: 109,520,714 (GRCm39)	N381S	possibly damaging	Het
Disp1	A	C	1: 182,871,298 (GRCm39)	V374G	probably damaging	Het
Dock4	C	T	12: 40,760,878 (GRCm39)	T522I	probably benign	Het
Fcer1a	A	G	1: 173,049,142 (GRCm39)	L223P	probably damaging	Het
Fstl4	C	A	11: 53,059,123 (GRCm39)	D527E	possibly damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm5460	A	T	14: 33,757,114 (GRCm39)	T64S	probably benign	Het
Gys1	T	C	7: 45,097,726 (GRCm39)	V491A	probably benign	Het
Hoxa9	A	T	6: 52,202,542 (GRCm39)	N181K	probably benign	Het
Ift81	A	T	5: 122,689,088 (GRCm39)	L676H	probably damaging	Het
Inava	A	G	1: 136,144,171 (GRCm39)	S422P	probably benign	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Lin7c	T	A	2: 109,726,717 (GRCm39)	I122K	probably damaging	Het
Malt1	A	G	18: 65,606,190 (GRCm39)	I622V	probably benign	Het
Megf8	T	C	7: 25,041,850 (GRCm39)		probably null	Het
Morc2b	A	G	17: 33,355,981 (GRCm39)	V597A	probably damaging	Het
Nr1h5	T	C	3: 102,856,925 (GRCm39)	I196V	probably benign	Het
Or10d4	T	C	9: 39,580,371 (GRCm39)	M6T	probably benign	Het
Or2a20	T	A	6: 43,193,950 (GRCm39)	Y34*	probably null	Het
Or8g2	T	G	9: 39,821,621 (GRCm39)	I174S	possibly damaging	Het
Pdlim1	G	A	19: 40,231,986 (GRCm39)	P131S	probably benign	Het
Plekhh1	T	C	12: 79,117,578 (GRCm39)	I858T	probably benign	Het
Pls1	T	C	9: 95,658,897 (GRCm39)	N197S	probably benign	Het
Pnma8a	A	T	7: 16,695,224 (GRCm39)	T360S	probably benign	Het
Pon1	A	T	6: 5,168,344 (GRCm39)	D354E	probably benign	Het
Rbp3	G	A	14: 33,676,732 (GRCm39)	V227M	probably benign	Het
Shcbp1	T	C	8: 4,794,545 (GRCm39)	K416R	probably damaging	Het
Slc20a2	T	G	8: 23,025,508 (GRCm39)	I70S	probably damaging	Het
Slc7a11	A	G	3: 50,326,809 (GRCm39)	I484T	probably benign	Het
Snrpa	A	G	7: 26,892,371 (GRCm39)	V63A	possibly damaging	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,126,597 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,201,427 (GRCm39)	E1259G	probably benign	Het
Suds3	T	G	5: 117,253,802 (GRCm39)	D26A	unknown	Het
Tnrc18	A	G	5: 142,772,907 (GRCm39)	S641P		Het
Tspan32	A	G	7: 142,570,959 (GRCm39)	N189D	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Usp40	G	T	1: 87,894,922 (GRCm39)	T866K	probably damaging	Het
Vmn1r220	G	A	13: 23,367,877 (GRCm39)	T273I	probably benign	Het
Yes1	C	T	5: 32,842,024 (GRCm39)	T516I	probably damaging	Het
Zbtb4	A	G	11: 69,669,368 (GRCm39)	E697G	probably benign	Het
Zfp994	T	C	17: 22,419,828 (GRCm39)	T374A	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
R4827:Btbd2	UTSW	10	80,482,223 (GRCm39)	missense	probably damaging	1.00
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
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'- TCTGTCTCTTCTCCAGGAAAGC -3'
(R):5'- TTTCCGGTTCCCTCCTAGAAGG -3'

Sequencing Primer
(F):5'- CTTCTCCAGGAAAGCTCTAGC -3'
(R):5'- AGGTCTGGAAAGGCCTCTG -3'

Posted On

2019-11-26