Mutagenetix > Incidental Mutation

Incidental Mutation 'R2066:Bach1'

226707

Institutional Source

Beutler Lab

Gene Symbol

Bach1

Ensembl Gene

ENSMUSG00000025612

Gene Name

BTB and CNC homology 1, basic leucine zipper transcription factor 1

Synonyms

MMRRC Submission

040071-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87698945-87733346 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87729625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 658 (K658N)

Ref Sequence

ENSEMBL: ENSMUSP00000026703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026703]

AlphaFold

P97302

PDB Structure

Structure of mouse Bach1 BTB domain [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026703
AA Change: K658N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: K658N

Domain	Start	End	E-Value	Type
BTB	34	130	1.23e-24	SMART
Blast:BTB	153	235	2e-29	BLAST
low complexity region	378	390	N/A	INTRINSIC
low complexity region	504	517	N/A	INTRINSIC
BRLZ	556	622	1.2e-12	SMART
low complexity region	699	717	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151046

Meta Mutation Damage Score

0.0777

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous null mice are healthy and fertile with no gross abnormalities but express elevated levels of HMOX1. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Acadl	C	T	1: 66,841,746		probably null	Het
Acss1	G	A	2: 150,668,131	Q23*	probably null	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
Akt3	A	G	1: 177,102,985	S136P	possibly damaging	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Ano5	T	G	7: 51,585,386	L639R	probably damaging	Het
Arhgap26	T	C	18: 39,306,728	S71P	probably damaging	Het
B3gnt2	A	G	11: 22,836,735	L151P	probably damaging	Het
Bdnf	C	A	2: 109,723,902	T207K	probably damaging	Het
Bod1l	G	T	5: 41,805,156	T2746K	probably damaging	Het
Brwd1	A	G	16: 96,046,465	S652P	probably benign	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Clasp2	T	A	9: 113,906,157	I1021N	possibly damaging	Het
Cnep1r1	G	T	8: 88,118,817		probably benign	Het
Cntn6	C	T	6: 104,861,822	R946*	probably null	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnajc13	A	T	9: 104,221,441	I471N	probably benign	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Emx2	A	G	19: 59,461,698	N149S	probably benign	Het
Fbln7	G	T	2: 128,877,466	R61L	probably damaging	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Filip1	A	G	9: 79,820,216	S374P	probably damaging	Het
Fry	T	A	5: 150,370,119		probably benign	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm2959	A	G	14: 42,413,701		noncoding transcript	Het
Gm9912	T	C	3: 149,185,159	T113A	unknown	Het
Hdlbp	A	G	1: 93,421,880		probably benign	Het
Hunk	G	A	16: 90,481,245		probably null	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Ints1	A	G	5: 139,767,496	V720A	probably benign	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Jpt2	G	A	17: 24,948,739	Q79*	probably null	Het
Lingo2	A	G	4: 35,709,179	L267P	probably benign	Het
Lonp2	A	G	8: 86,665,775	T490A	probably damaging	Het
Meiob	G	T	17: 24,818,316	R56L	probably damaging	Het
Mindy3	A	T	2: 12,419,249	S2T	probably damaging	Het
Mrm3	A	T	11: 76,250,321	D385V	probably damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Naf1	A	G	8: 66,887,780	D414G	probably damaging	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Nbea	A	G	3: 55,968,146	V1701A	probably damaging	Het
Nipal4	T	G	11: 46,156,795	D104A	probably damaging	Het
Npas4	A	G	19: 4,987,414	V284A	probably damaging	Het
Nup133	C	A	8: 123,914,575	D869Y	probably damaging	Het
Obscn	G	A	11: 59,135,732	A215V	possibly damaging	Het
Olfr1218	A	G	2: 89,054,899	Y176H	probably damaging	Het
Olfr870	G	T	9: 20,171,554	Q6K	probably benign	Het
Olfr938	T	C	9: 39,078,214	Y177C	probably damaging	Het
Pgs1	G	A	11: 118,014,570		probably benign	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Phldb2	A	T	16: 45,770,758	L970Q	probably damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Ppip5k1	A	G	2: 121,342,871		probably benign	Het
Prune2	A	G	19: 17,120,678	D1182G	possibly damaging	Het
Psg25	G	A	7: 18,529,562	T112I	probably damaging	Het
Sec61g	T	C	11: 16,508,124	T24A	probably benign	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Sorbs1	T	C	19: 40,365,028		probably null	Het
Sox2	C	A	3: 34,651,307	Q298K	possibly damaging	Het
Spatc1	T	A	15: 76,283,537		probably null	Het
Szt2	T	C	4: 118,373,980	M2529V	unknown	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tpp2	T	G	1: 43,978,438	I734S	possibly damaging	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Ttc28	C	A	5: 111,225,933	F1078L	probably benign	Het
Ttn	T	C	2: 76,714,373	N32795S	probably damaging	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Ugt2b36	T	C	5: 87,092,241	E95G	probably benign	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vstm2a	A	T	11: 16,261,483	I98F	probably benign	Het
Zdhhc13	T	A	7: 48,816,427	V284D	probably benign	Het
Zfp668	C	A	7: 127,867,031	R327L	probably damaging	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably damaging	Het

Other mutations in Bach1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01553:Bach1	APN	16	87722505	missense	probably damaging	1.00
R0626:Bach1	UTSW	16	87729471	missense	possibly damaging	0.94
R0701:Bach1	UTSW	16	87719989	missense	probably damaging	0.99
R1070:Bach1	UTSW	16	87720121	missense	probably benign	0.02
R1160:Bach1	UTSW	16	87715434	missense	probably benign	0.34
R2235:Bach1	UTSW	16	87720113	missense	probably damaging	1.00
R4716:Bach1	UTSW	16	87715379	start gained	probably benign
R4801:Bach1	UTSW	16	87722452	missense	probably damaging	0.99
R4802:Bach1	UTSW	16	87722452	missense	probably damaging	0.99
R4989:Bach1	UTSW	16	87719000	missense	possibly damaging	0.94
R5016:Bach1	UTSW	16	87719318	missense	possibly damaging	0.88
R5527:Bach1	UTSW	16	87719545	missense	probably benign	0.01
R5657:Bach1	UTSW	16	87719285	missense	probably benign	0.00
R6064:Bach1	UTSW	16	87729864	missense	probably damaging	1.00
R6384:Bach1	UTSW	16	87719857	nonsense	probably null
R7009:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7027:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7028:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7029:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7030:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7095:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7096:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7192:Bach1	UTSW	16	87729663	missense	possibly damaging	0.71
R7385:Bach1	UTSW	16	87729497	missense	probably damaging	0.99
R7571:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7572:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7623:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R7632:Bach1	UTSW	16	87720143	missense	probably benign	0.00
R7714:Bach1	UTSW	16	87718848	nonsense	probably null
R7715:Bach1	UTSW	16	87719971	missense	possibly damaging	0.82
R7746:Bach1	UTSW	16	87729633	missense	probably benign	0.00
R7896:Bach1	UTSW	16	87719005	missense	possibly damaging	0.63
R8129:Bach1	UTSW	16	87722426	missense	possibly damaging	0.51
R8169:Bach1	UTSW	16	87722502	missense	possibly damaging	0.93
R8296:Bach1	UTSW	16	87729579	missense	probably damaging	1.00
R8300:Bach1	UTSW	16	87719108	missense	probably benign
R8388:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R8389:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R8391:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R8480:Bach1	UTSW	16	87719275	missense	probably damaging	1.00
R8691:Bach1	UTSW	16	87719629	missense	probably benign
R8748:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R8749:Bach1	UTSW	16	87719291	missense	probably benign	0.10
R8952:Bach1	UTSW	16	87715465	missense	probably damaging	0.99
R9255:Bach1	UTSW	16	87722513	missense	possibly damaging	0.93
R9283:Bach1	UTSW	16	87719323	missense	probably benign
R9433:Bach1	UTSW	16	87719715	missense	probably benign	0.01
R9434:Bach1	UTSW	16	87719715	missense	probably benign	0.01
R9440:Bach1	UTSW	16	87719715	missense	probably benign	0.01
R9487:Bach1	UTSW	16	87729845	missense	probably benign
R9501:Bach1	UTSW	16	87719111	missense	probably benign	0.00
R9557:Bach1	UTSW	16	87719715	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCTGCACAGCAAAGTGAAAAG -3'
(R):5'- TCTGAGATCCCAGCACTCTG -3'

Sequencing Primer
(F):5'- GTGAAAAGGAGAGCTTGCTG -3'
(R):5'- GACAGGGTTCCAACAGCGTG -3'

Posted On

2014-09-17