Mutagenetix > Incidental Mutation

Incidental Mutation 'R7331:Btbd1'

569238

Institutional Source

Beutler Lab

Gene Symbol

Btbd1

Ensembl Gene

ENSMUSG00000025103

Gene Name

BTB domain containing 1

Synonyms

1190005H08Rik

MMRRC Submission

045424-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R7331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81441822-81479179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81465720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 209 (I209L)

Ref Sequence

ENSEMBL: ENSMUSP00000026093 (fasta)

Gene Model

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

AlphaFold

P58544

Predicted Effect

probably damaging
Transcript: ENSMUST00000026093
AA Change: I209L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026093
Gene: ENSMUSG00000025103
AA Change: I209L

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

Meta Mutation Damage Score

0.7092

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (48/48)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,331,728 (GRCm39)	H47L	possibly damaging	Het
Adgrf5	T	C	17: 43,748,484 (GRCm39)	S438P	probably damaging	Het
Atg16l2	C	A	7: 100,948,255 (GRCm39)	K96N	probably damaging	Het
Bglap2	A	T	3: 88,285,567 (GRCm39)	M35K	possibly damaging	Het
Cdc34	T	C	10: 79,521,146 (GRCm39)	Y148H	probably damaging	Het
Clcc1	A	G	3: 108,575,394 (GRCm39)	D157G	probably damaging	Het
Csmd2	A	T	4: 128,458,021 (GRCm39)		probably null	Het
Ctsj	G	A	13: 61,151,645 (GRCm39)	S90L	probably benign	Het
Cycs	A	G	6: 50,542,532 (GRCm39)	F37L	probably benign	Het
Dync2li1	T	A	17: 84,955,086 (GRCm39)	C248*	probably null	Het
Dzank1	A	T	2: 144,332,190 (GRCm39)	I382N	probably benign	Het
Eif4a3l2	G	A	6: 116,529,130 (GRCm39)	V336I	probably benign	Het
Enpp2	T	C	15: 54,739,066 (GRCm39)	I406V	probably damaging	Het
Ero1b	A	G	13: 12,615,015 (GRCm39)	E282G	probably damaging	Het
Fastkd5	A	T	2: 130,457,647 (GRCm39)	N314K	possibly damaging	Het
Fbh1	A	T	2: 11,768,797 (GRCm39)	C300S	probably benign	Het
Fchsd1	T	C	18: 38,101,823 (GRCm39)	I49V	possibly damaging	Het
Foxn1	A	G	11: 78,249,615 (GRCm39)	Y637H	probably damaging	Het
Gabarap	A	G	11: 69,885,298 (GRCm39)	E101G	possibly damaging	Het
Gm7247	A	G	14: 51,601,792 (GRCm39)	R22G	probably damaging	Het
Gm7694	A	T	1: 170,129,180 (GRCm39)	D116E	possibly damaging	Het
Gm9508	A	G	10: 77,532,629 (GRCm39)	C147R	unknown	Het
Gpr152	A	G	19: 4,192,608 (GRCm39)	M50V	probably damaging	Het
Hunk	T	A	16: 90,269,450 (GRCm39)	N331K	possibly damaging	Het
Il1r2	A	G	1: 40,162,409 (GRCm39)	T351A	probably benign	Het
Iqub	A	G	6: 24,500,393 (GRCm39)	V287A	possibly damaging	Het
Lix1	A	T	17: 17,647,474 (GRCm39)	T47S	probably benign	Het
Lrp1b	A	T	2: 40,553,622 (GRCm39)		probably null	Het
Nup107	G	A	10: 117,606,103 (GRCm39)	T500I	probably damaging	Het
Phf21b	G	C	15: 84,675,295 (GRCm39)	R405G	probably benign	Het
Piezo2	A	G	18: 63,241,101 (GRCm39)	V709A	probably damaging	Het
Psme3ip1	T	A	8: 95,309,564 (GRCm39)	K143*	probably null	Het
Rfc1	T	C	5: 65,468,387 (GRCm39)	T109A	probably damaging	Het
Rpa1	A	G	11: 75,203,941 (GRCm39)	V302A	probably damaging	Het
Ryr2	A	G	13: 11,760,517 (GRCm39)	I1522T	probably benign	Het
Ryr3	C	A	2: 112,594,010 (GRCm39)	R2578L	possibly damaging	Het
Scgb2b18	C	T	7: 32,872,681 (GRCm39)	W41*	probably null	Het
Sdccag8	C	G	1: 176,695,856 (GRCm39)	Q387E	possibly damaging	Het
Slc25a17	G	A	15: 81,213,346 (GRCm39)	T119M	probably damaging	Het
Slc45a4	G	T	15: 73,477,489 (GRCm39)	Q16K	probably benign	Het
Slc4a1	G	A	11: 102,252,245 (GRCm39)		probably benign	Het
Slc7a14	T	C	3: 31,311,880 (GRCm39)	T47A	probably benign	Het
Stard6	A	G	18: 70,616,553 (GRCm39)	R71G	probably damaging	Het
Tecr	A	G	8: 84,298,564 (GRCm39)	V321A	probably damaging	Het
Ttc3	T	A	16: 94,195,218 (GRCm39)	F290L	probably benign	Het
Uqcc1	A	G	2: 155,753,731 (GRCm39)	V48A	probably benign	Het
V1rd19	T	A	7: 23,703,308 (GRCm39)	I258N	probably damaging	Het
Zar1	T	A	5: 72,737,655 (GRCm39)	E249V	possibly damaging	Het
Zfp101	T	C	17: 33,601,559 (GRCm39)	T66A	possibly damaging	Het
Zyx	A	G	6: 42,328,593 (GRCm39)	H230R	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
R2159:Btbd1	UTSW	7	81,450,804 (GRCm39)	missense	possibly damaging	0.94
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
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'- TCTCAAGAGTACTGTCACTAAGATG -3'
(R):5'- GACCGTTGATATTGTGACACATTAG -3'

Sequencing Primer
(F):5'- GATGAAAGAAAGTACACCTCCTTAAG -3'
(R):5'- TGTGACACATTAGTATTCTTTAGCC -3'

Posted On

2019-09-13