Mutagenetix > Incidental Mutation

Incidental Mutation 'R7028:Bach1'

546157

Institutional Source

Beutler Lab

Gene Symbol

Bach1

Ensembl Gene

ENSMUSG00000025612

Gene Name

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

Synonyms

6230421P05Rik

MMRRC Submission

045129-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7028 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87495842-87530234 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87516179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 240 (R240Q)

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 benign
Transcript: ENSMUST00000026703
AA Change: R240Q

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: R240Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,096,019 (GRCm39)	I804T	probably benign	Het
Abcb1b	A	T	5: 8,855,441 (GRCm39)	E25V	probably damaging	Het
Adamts9	G	T	6: 92,886,774 (GRCm39)	Y355*	probably null	Het
Akp3	A	G	1: 87,054,500 (GRCm39)	M303V	probably benign	Het
Ankrd35	A	T	3: 96,590,650 (GRCm39)	E312V	possibly damaging	Het
Arhgap40	T	C	2: 158,373,294 (GRCm39)		probably null	Het
Asxl1	T	C	2: 153,242,027 (GRCm39)	L859P	probably benign	Het
Atat1	A	G	17: 36,220,897 (GRCm39)	F11L	probably benign	Het
Ccdc7a	A	T	8: 129,608,075 (GRCm39)	H943Q	unknown	Het
Cep135	A	G	5: 76,764,695 (GRCm39)	T558A	probably benign	Het
Cfap99	A	G	5: 34,458,863 (GRCm39)	E86G	possibly damaging	Het
Cfhr2	C	T	1: 139,758,801 (GRCm39)		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Col17a1	G	A	19: 47,640,622 (GRCm39)	P992L	probably damaging	Het
Col7a1	C	T	9: 108,792,331 (GRCm39)	Q1294*	probably null	Het
Coq8b	T	A	7: 26,939,293 (GRCm39)	C148S	probably damaging	Het
Csmd2	A	G	4: 128,171,021 (GRCm39)	N338S		Het
Cspg5	T	A	9: 110,075,959 (GRCm39)	S232T	possibly damaging	Het
Cyp2c67	A	G	19: 39,628,341 (GRCm39)	V201A	possibly damaging	Het
Dlgap3	G	A	4: 127,089,310 (GRCm39)	R302H	possibly damaging	Het
Dpy19l2	T	C	9: 24,539,547 (GRCm39)	I469V	probably benign	Het
Fam135b	T	C	15: 71,343,412 (GRCm39)	D401G	probably damaging	Het
Gabbr1	G	T	17: 37,375,629 (GRCm39)	G453*	probably null	Het
Gclc	C	A	9: 77,695,498 (GRCm39)	A440D	probably damaging	Het
Glyat	T	C	19: 12,627,723 (GRCm39)	I106T	probably benign	Het
Gm12185	T	C	11: 48,799,071 (GRCm39)	N474S	possibly damaging	Het
Gm17079	T	C	14: 51,930,494 (GRCm39)	H117R		Het
Ift70a2	A	T	2: 75,806,613 (GRCm39)	L633*	probably null	Het
Ildr2	A	G	1: 166,131,098 (GRCm39)	D318G	probably damaging	Het
Kcnd2	G	A	6: 21,216,177 (GRCm39)		probably benign	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Kif3a	G	T	11: 53,477,733 (GRCm39)	G401*	probably null	Het
Lactbl1	T	A	4: 136,360,286 (GRCm39)	L155Q	probably damaging	Het
Lrp1b	T	A	2: 41,136,023 (GRCm39)	D1649V	probably benign	Het
Lrrc37	C	T	11: 103,505,363 (GRCm39)	A26T	probably benign	Het
Map2k1	A	G	9: 64,101,105 (GRCm39)	V191A	probably benign	Het
Mdm4	A	T	1: 132,931,547 (GRCm39)	C165S	probably benign	Het
Med27	G	A	2: 29,399,446 (GRCm39)	W92*	probably null	Het
Muc20	A	T	16: 32,614,616 (GRCm39)	S254T	probably benign	Het
Myh1	A	G	11: 67,111,247 (GRCm39)	E1562G	possibly damaging	Het
Nlrp2	C	G	7: 5,331,571 (GRCm39)	R275P	possibly damaging	Het
Notch2	T	A	3: 98,009,703 (GRCm39)	N543K	probably damaging	Het
Nup214	T	A	2: 31,924,168 (GRCm39)	S1566T	probably benign	Het
Nxnl1	T	G	8: 72,015,437 (GRCm39)	E157A	possibly damaging	Het
Obscn	A	G	11: 58,969,959 (GRCm39)	L61P	probably damaging	Het
Ogg1	A	T	6: 113,306,237 (GRCm39)	I145F	probably damaging	Het
Or10d5j	T	C	9: 39,867,641 (GRCm39)	T197A	probably benign	Het
Or2b2	A	G	13: 21,887,440 (GRCm39)	K90E	possibly damaging	Het
Or2f1	G	A	6: 42,721,337 (GRCm39)	R122H	probably benign	Het
Or51h5	T	C	7: 102,577,149 (GRCm39)	F105L	probably damaging	Het
Pclo	A	G	5: 14,763,461 (GRCm39)	D3978G	unknown	Het
Pla2g4e	T	G	2: 120,000,676 (GRCm39)	D687A	probably damaging	Het
Pla2r1	T	C	2: 60,288,737 (GRCm39)	K632E	probably damaging	Het
Plg	A	T	17: 12,610,723 (GRCm39)	Q212L	probably damaging	Het
Poldip3	A	T	15: 83,015,698 (GRCm39)	N306K	probably damaging	Het
Pspn	A	G	17: 57,306,978 (GRCm39)	L13P	possibly damaging	Het
Ralgapa1	T	C	12: 55,804,844 (GRCm39)	E484G	probably damaging	Het
Rbmxl1	G	T	8: 79,233,286 (GRCm39)	T19K	probably damaging	Het
Rora	G	A	9: 69,103,365 (GRCm39)	V31I	possibly damaging	Het
Skint5	C	A	4: 113,798,036 (GRCm39)	W182C	probably damaging	Het
Spata31d1c	A	T	13: 65,183,877 (GRCm39)	Q473L	probably damaging	Het
Tesk2	G	A	4: 116,659,884 (GRCm39)	W334*	probably null	Het
Tmem67	C	A	4: 12,075,484 (GRCm39)	V277L	probably benign	Het
Trhde	A	G	10: 114,354,082 (GRCm39)	M537T	probably damaging	Het
Tubb6	G	A	18: 67,534,981 (GRCm39)	M293I	probably benign	Het
Ube2ql1	A	T	13: 69,886,873 (GRCm39)	L196Q	probably damaging	Het
Ubn1	A	T	16: 4,873,188 (GRCm39)	N70I	probably damaging	Het
Ubtf	A	T	11: 102,205,806 (GRCm39)	S40T	probably benign	Het
Virma	C	T	4: 11,519,249 (GRCm39)	A782V	possibly damaging	Het
Xdh	G	T	17: 74,250,868 (GRCm39)	T28K	probably damaging	Het
Xpo4	A	G	14: 57,834,508 (GRCm39)	S691P	probably benign	Het
Zfat	A	C	15: 68,052,301 (GRCm39)	F491V	probably damaging	Het
Zfp623	T	G	15: 75,820,154 (GRCm39)	V370G	probably damaging	Het

Other mutations in Bach1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01553:Bach1	APN	16	87,519,393 (GRCm39)	missense	probably damaging	1.00
R0626:Bach1	UTSW	16	87,526,359 (GRCm39)	missense	possibly damaging	0.94
R0701:Bach1	UTSW	16	87,516,877 (GRCm39)	missense	probably damaging	0.99
R1070:Bach1	UTSW	16	87,517,009 (GRCm39)	missense	probably benign	0.02
R1160:Bach1	UTSW	16	87,512,322 (GRCm39)	missense	probably benign	0.34
R2066:Bach1	UTSW	16	87,526,513 (GRCm39)	missense	probably damaging	0.99
R2235:Bach1	UTSW	16	87,517,001 (GRCm39)	missense	probably damaging	1.00
R4716:Bach1	UTSW	16	87,512,267 (GRCm39)	start gained	probably benign
R4801:Bach1	UTSW	16	87,519,340 (GRCm39)	missense	probably damaging	0.99
R4802:Bach1	UTSW	16	87,519,340 (GRCm39)	missense	probably damaging	0.99
R4989:Bach1	UTSW	16	87,515,888 (GRCm39)	missense	possibly damaging	0.94
R5016:Bach1	UTSW	16	87,516,206 (GRCm39)	missense	possibly damaging	0.88
R5527:Bach1	UTSW	16	87,516,433 (GRCm39)	missense	probably benign	0.01
R5657:Bach1	UTSW	16	87,516,173 (GRCm39)	missense	probably benign	0.00
R6064:Bach1	UTSW	16	87,526,752 (GRCm39)	missense	probably damaging	1.00
R6384:Bach1	UTSW	16	87,516,745 (GRCm39)	nonsense	probably null
R7009:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R7027:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R7029:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R7030:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R7095:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R7096:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R7192:Bach1	UTSW	16	87,526,551 (GRCm39)	missense	possibly damaging	0.71
R7385:Bach1	UTSW	16	87,526,385 (GRCm39)	missense	probably damaging	0.99
R7571:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R7572:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R7623:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R7632:Bach1	UTSW	16	87,517,031 (GRCm39)	missense	probably benign	0.00
R7714:Bach1	UTSW	16	87,515,736 (GRCm39)	nonsense	probably null
R7715:Bach1	UTSW	16	87,516,859 (GRCm39)	missense	possibly damaging	0.82
R7746:Bach1	UTSW	16	87,526,521 (GRCm39)	missense	probably benign	0.00
R7896:Bach1	UTSW	16	87,515,893 (GRCm39)	missense	possibly damaging	0.63
R8129:Bach1	UTSW	16	87,519,314 (GRCm39)	missense	possibly damaging	0.51
R8169:Bach1	UTSW	16	87,519,390 (GRCm39)	missense	possibly damaging	0.93
R8296:Bach1	UTSW	16	87,526,467 (GRCm39)	missense	probably damaging	1.00
R8300:Bach1	UTSW	16	87,515,996 (GRCm39)	missense	probably benign
R8388:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R8389:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R8391:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R8480:Bach1	UTSW	16	87,516,163 (GRCm39)	missense	probably damaging	1.00
R8691:Bach1	UTSW	16	87,516,517 (GRCm39)	missense	probably benign
R8748:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R8749:Bach1	UTSW	16	87,516,179 (GRCm39)	missense	probably benign	0.10
R8952:Bach1	UTSW	16	87,512,353 (GRCm39)	missense	probably damaging	0.99
R9255:Bach1	UTSW	16	87,519,401 (GRCm39)	missense	possibly damaging	0.93
R9283:Bach1	UTSW	16	87,516,211 (GRCm39)	missense	probably benign
R9433:Bach1	UTSW	16	87,516,603 (GRCm39)	missense	probably benign	0.01
R9434:Bach1	UTSW	16	87,516,603 (GRCm39)	missense	probably benign	0.01
R9440:Bach1	UTSW	16	87,516,603 (GRCm39)	missense	probably benign	0.01
R9487:Bach1	UTSW	16	87,526,733 (GRCm39)	missense	probably benign
R9501:Bach1	UTSW	16	87,515,999 (GRCm39)	missense	probably benign	0.00
R9557:Bach1	UTSW	16	87,516,603 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCAGACGCCTCAGTGTGAC -3'
(R):5'- TGCAGAATCCTGAGGCAAG -3'

Sequencing Primer
(F):5'- TCAGTGTGACTCCCGCAG -3'
(R):5'- AATCCTGAGGCAAGGGTGTCC -3'

Posted On

2019-05-13