Mutagenetix > Incidental Mutation

Incidental Mutation 'R8129:Bach1'

631931

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

067558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87495842-87530234 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87519314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 535 (R535W)

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

possibly damaging
Transcript: ENSMUST00000026703
AA Change: R535W

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: R535W

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: 99.8%
3x: 99.6%
10x: 98.0%
20x: 85.2%

Validation Efficiency

98% (99/101)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,266,187 (GRCm39)	D161G	probably damaging	Het
Adamts19	T	C	18: 59,140,559 (GRCm39)		probably null	Het
Ahnak	A	T	19: 8,977,464 (GRCm39)	M1L	not run	Het
Appl1	A	G	14: 26,671,466 (GRCm39)	S329P	possibly damaging	Het
Bicc1	T	C	10: 70,915,033 (GRCm39)	D77G	probably benign	Het
Bub1b	T	A	2: 118,468,975 (GRCm39)	D913E	probably benign	Het
Cdhr2	G	T	13: 54,864,208 (GRCm39)		probably null	Het
Col25a1	T	C	3: 130,290,050 (GRCm39)	S247P	probably damaging	Het
Commd8	T	C	5: 72,320,164 (GRCm39)	M126V	unknown	Het
Dpysl4	C	T	7: 138,666,076 (GRCm39)	T13M	probably benign	Het
Epc1	A	G	18: 6,439,634 (GRCm39)	V776A	possibly damaging	Het
Fancg	G	T	4: 43,005,036 (GRCm39)		probably null	Het
Fdx1	T	C	9: 51,859,926 (GRCm39)	T135A	probably benign	Het
Fgf7	T	C	2: 125,877,765 (GRCm39)	V44A	probably benign	Het
Fgfr3	A	T	5: 33,891,250 (GRCm39)	M523L	probably damaging	Het
Focad	A	T	4: 88,151,000 (GRCm39)	H548L	unknown	Het
Ftsj3	C	A	11: 106,144,657 (GRCm39)	V111F	probably benign	Het
Gm28168	T	A	1: 117,857,483 (GRCm39)	D12E	probably damaging	Het
Gprin3	T	C	6: 59,330,844 (GRCm39)	T488A	probably benign	Het
Hormad2	C	A	11: 4,296,648 (GRCm39)	V279L	probably benign	Het
Hs6st1	A	G	1: 36,108,105 (GRCm39)	K123E	probably damaging	Het
Ice1	A	G	13: 70,754,320 (GRCm39)	S589P	probably benign	Het
Il1r1	T	A	1: 40,341,447 (GRCm39)	H286Q	probably benign	Het
Il1rl1	T	A	1: 40,490,987 (GRCm39)	C423S	probably damaging	Het
L1td1	A	T	4: 98,621,563 (GRCm39)	M42L	probably benign	Het
Large1	T	C	8: 73,542,585 (GRCm39)	D713G	probably damaging	Het
Llgl2	C	A	11: 115,741,737 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,260,624 (GRCm39)	V4536M	possibly damaging	Het
Map3k19	A	C	1: 127,750,420 (GRCm39)	L977R	possibly damaging	Het
Myo15a	A	T	11: 60,399,026 (GRCm39)	D1617V		Het
Nek3	A	G	8: 22,639,908 (GRCm39)	I189T	probably damaging	Het
Nrap	C	T	19: 56,355,068 (GRCm39)		probably null	Het
Omd	A	C	13: 49,745,565 (GRCm39)	D325A	probably damaging	Het
Or1x6	G	A	11: 50,939,210 (GRCm39)	R92K	probably benign	Het
Or4a76	C	A	2: 89,460,792 (GRCm39)	G150V	probably damaging	Het
Or52h7	A	G	7: 104,213,584 (GRCm39)	Y52C	probably benign	Het
Or5b118	A	T	19: 13,448,508 (GRCm39)	Y16F	probably damaging	Het
Pabpc6	C	T	17: 9,887,427 (GRCm39)	V375I	possibly damaging	Het
Pcdha5	A	G	18: 37,094,832 (GRCm39)	D447G	probably damaging	Het
Pla2r1	A	T	2: 60,262,944 (GRCm39)	W1032R	probably damaging	Het
Ppp2r5d	T	C	17: 46,995,263 (GRCm39)	Y524C	probably benign	Het
Ppp4r3b	T	C	11: 29,159,364 (GRCm39)	Y573H	probably damaging	Het
Prune2	T	C	19: 17,096,200 (GRCm39)	I568T	probably benign	Het
Ptpn22	G	A	3: 103,797,600 (GRCm39)		probably null	Het
Rbm12b1	A	G	4: 12,145,549 (GRCm39)	D507G	probably damaging	Het
Rdh7	A	G	10: 127,723,370 (GRCm39)	S162P	probably benign	Het
Rreb1	C	T	13: 38,113,775 (GRCm39)	A378V	probably benign	Het
Scaf11	A	G	15: 96,317,350 (GRCm39)	F738S	probably damaging	Het
Sdk1	C	A	5: 142,177,648 (GRCm39)	N2031K	probably benign	Het
Serpina3c	A	T	12: 104,118,056 (GRCm39)	L94Q	probably damaging	Het
Sgo2b	T	C	8: 64,381,834 (GRCm39)	S333G	possibly damaging	Het
Slc22a15	A	G	3: 101,822,658 (GRCm39)	V88A	possibly damaging	Het
Smarcad1	G	T	6: 65,044,078 (GRCm39)	D217Y	probably benign	Het
Sppl2a	A	G	2: 126,765,390 (GRCm39)	F244S	probably damaging	Het
Sspo	G	A	6: 48,443,959 (GRCm39)	D2156N	possibly damaging	Het
Taf2	G	A	15: 54,923,384 (GRCm39)	R298C	probably damaging	Het
Tap2	C	T	17: 34,424,672 (GRCm39)	T135I	probably benign	Het
Tbx15	G	T	3: 99,161,254 (GRCm39)	V20F	probably damaging	Het
Tes	A	T	6: 17,065,242 (GRCm39)		probably benign	Het
Tmem39b	A	T	4: 129,572,468 (GRCm39)	M378K	probably damaging	Het
Trim44	A	G	2: 102,230,848 (GRCm39)	V61A	unknown	Het
Ttll5	T	C	12: 85,937,858 (GRCm39)		probably null	Het
Tubgcp4	C	T	2: 121,004,109 (GRCm39)	T50I	possibly damaging	Het
Txndc17	G	A	11: 72,098,588 (GRCm39)	V47M	probably damaging	Het
Ubp1	A	G	9: 113,804,417 (GRCm39)	E494G	possibly damaging	Het
Utp20	A	T	10: 88,628,487 (GRCm39)	S936T	probably benign	Het
Wdr64	A	G	1: 175,603,154 (GRCm39)	D585G	probably damaging	Het
Wdtc1	A	T	4: 133,031,460 (GRCm39)		probably null	Het
Zfp292	A	G	4: 34,807,386 (GRCm39)	M1891T	probably damaging	Het
Zfp84	A	C	7: 29,475,862 (GRCm39)	I185L	probably benign	Het
Zmym4	A	G	4: 126,808,956 (GRCm39)	F364L	possibly 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
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'- ACTTAGGTGCATATGTGTGTCC -3'
(R):5'- TCCGACTCAAGGTTCTGGATAC -3'

Sequencing Primer
(F):5'- TGTAGCACCAGGAACTTCTG -3'
(R):5'- GGATACAGTCAAGTTTCCTCTTGCG -3'

Posted On

2020-06-30