Mutagenetix > Incidental Mutation

Incidental Mutation 'R9433:Bach1'

713144

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9433 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87495842-87530234 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 87516603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 381 (S381R)

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: S381R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: S381R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Adgrv1	A	T	13: 81,714,471 (GRCm39)	F937L	probably benign	Het
Adipor2	A	T	6: 119,336,486 (GRCm39)	F159Y	probably damaging	Het
Ahcyl1	A	G	3: 107,575,645 (GRCm39)	V380A	probably damaging	Het
Akp3	A	G	1: 87,053,517 (GRCm39)	K157E	probably benign	Het
Arpc1a	T	A	5: 145,045,203 (GRCm39)	I364N	possibly damaging	Het
Brms1l	G	A	12: 55,912,863 (GRCm39)		probably null	Het
Camk1d	A	G	2: 5,680,777 (GRCm39)	S6P	unknown	Het
Ccdc112	C	A	18: 46,424,040 (GRCm39)	V233L	probably benign	Het
Ccdc113	A	T	8: 96,272,613 (GRCm39)	N240I	possibly damaging	Het
Ccdc168	A	T	1: 44,095,668 (GRCm39)	V1810E	possibly damaging	Het
Ccdc6	T	C	10: 70,004,951 (GRCm39)	V232A	possibly damaging	Het
Cct5	A	G	15: 31,592,883 (GRCm39)	I409T	possibly damaging	Het
Cd96	A	G	16: 45,856,298 (GRCm39)	Y583H	probably damaging	Het
Cdh22	C	T	2: 164,954,329 (GRCm39)	V731M	probably benign	Het
Clcn1	C	T	6: 42,282,494 (GRCm39)	P521S	probably damaging	Het
Clec18a	C	T	8: 111,808,322 (GRCm39)	A27T	probably benign	Het
Cnnm2	C	T	19: 46,750,807 (GRCm39)	A199V	probably benign	Het
Copg1	G	A	6: 87,880,478 (GRCm39)	A494T	possibly damaging	Het
Cpsf2	A	G	12: 101,948,252 (GRCm39)	E16G	probably damaging	Het
Cyp2j5	T	A	4: 96,552,244 (GRCm39)	I2F	probably benign	Het
Dgkg	T	A	16: 22,384,065 (GRCm39)	N463Y	probably damaging	Het
Dnah11	T	C	12: 117,976,007 (GRCm39)	D2804G	probably damaging	Het
Efcab12	T	C	6: 115,792,995 (GRCm39)	N488D	probably benign	Het
Etv5	G	A	16: 22,254,668 (GRCm39)	P64L	probably damaging	Het
Fbrs	A	G	7: 127,084,272 (GRCm39)	E468G	probably benign	Het
Fcho1	A	T	8: 72,169,468 (GRCm39)	M146K	probably benign	Het
Gad1	A	T	2: 70,423,807 (GRCm39)	M405L		Het
Gcc2	T	A	10: 58,106,592 (GRCm39)	H609Q	probably benign	Het
Gm11983	A	T	11: 6,786,902 (GRCm39)	M75K	unknown	Het
Gm4353	T	A	7: 115,682,871 (GRCm39)	I237F	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hcn4	A	G	9: 58,731,222 (GRCm39)	D143G	unknown	Het
Id1	T	A	2: 152,578,430 (GRCm39)	V57D	probably damaging	Het
Ifna13	T	C	4: 88,562,540 (GRCm39)	Q28R	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Lonrf2	G	A	1: 38,875,538 (GRCm39)		probably benign	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Mia2	A	G	12: 59,148,371 (GRCm39)	E77G	probably damaging	Het
Muc16	T	A	9: 18,483,937 (GRCm39)	Q6945L	probably benign	Het
Nos2	G	A	11: 78,850,490 (GRCm39)	R1116H	probably damaging	Het
Or2w4	C	T	13: 21,795,224 (GRCm39)	C305Y	probably benign	Het
Parpbp	A	C	10: 87,975,858 (GRCm39)	V85G	probably benign	Het
Pcmtd2	C	T	2: 181,496,837 (GRCm39)	H273Y	possibly damaging	Het
Pcp4l1	C	T	1: 171,001,998 (GRCm39)	G54D	probably damaging	Het
Pkdrej	T	C	15: 85,704,070 (GRCm39)	H622R	probably benign	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Pnpla8	T	C	12: 44,330,305 (GRCm39)	S286P	probably damaging	Het
Prss36	C	T	7: 127,533,339 (GRCm39)	V631I	probably benign	Het
Ptpn9	A	T	9: 56,964,010 (GRCm39)	N381I	possibly damaging	Het
Ranbp9	A	T	13: 43,576,041 (GRCm39)	I222N	probably damaging	Het
Rev1	T	C	1: 38,092,173 (GRCm39)	T1249A	probably damaging	Het
Ripply2	G	T	9: 86,901,715 (GRCm39)	W80C	probably damaging	Het
Rnaseh2b	C	A	14: 62,602,722 (GRCm39)	P235Q	probably benign	Het
Sacs	T	A	14: 61,443,997 (GRCm39)	F2014L	probably damaging	Het
Serpinb9f	A	G	13: 33,518,238 (GRCm39)	N246S	probably benign	Het
Sh3pxd2a	A	T	19: 47,255,539 (GRCm39)	S1088T	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	A	G	4: 112,137,432 (GRCm39)	I367V	probably benign	Het
Slc20a2	G	T	8: 23,051,211 (GRCm39)	E415*	probably null	Het
Slc5a1	T	A	5: 33,310,025 (GRCm39)	S418T	probably benign	Het
Spats2	G	T	15: 99,076,446 (GRCm39)	G175*	probably null	Het
Srebf1	A	T	11: 60,095,015 (GRCm39)	F485L	possibly damaging	Het
St8sia4	A	G	1: 95,555,364 (GRCm39)	V222A		Het
Stab1	C	T	14: 30,865,531 (GRCm39)	E1786K	probably benign	Het
Stat2	A	G	10: 128,112,657 (GRCm39)	M58V	probably benign	Het
Stat5a	A	G	11: 100,765,870 (GRCm39)	T319A	probably benign	Het
Sufu	A	G	19: 46,385,532 (GRCm39)		probably benign	Het
Tle6	T	A	10: 81,426,880 (GRCm39)	I579F	probably damaging	Het
Tmem131l	A	T	3: 83,845,459 (GRCm39)	D390E	probably benign	Het
Trim33	T	A	3: 103,228,979 (GRCm39)		probably null	Het
Usp54	A	G	14: 20,611,678 (GRCm39)	V1046A	probably benign	Het
Vit	G	A	17: 78,932,413 (GRCm39)	G507R	probably damaging	Het
Vmn2r59	A	G	7: 41,695,590 (GRCm39)	I274T	probably damaging	Het
Vmn2r67	T	A	7: 84,804,917 (GRCm39)	K65M	possibly damaging	Het
Vmn2r86	C	T	10: 130,282,567 (GRCm39)	G683E	possibly damaging	Het
Vwa8	T	C	14: 79,335,871 (GRCm39)		probably null	Het
Zdhhc14	A	G	17: 5,781,779 (GRCm39)	D333G	probably benign	Het
Zup1	G	A	10: 33,795,355 (GRCm39)	S568L	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
R7028: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
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'- AGCCTTACACACATATGAGCAG -3'
(R):5'- AGTTGTGAAAGTCCGCTGGC -3'

Sequencing Primer
(F):5'- CTTACACACATATGAGCAGTCAGGTG -3'
(R):5'- GGGGCTCTCACTGATCCTGATAC -3'

Posted On

2022-05-16