Mutagenetix > Incidental Mutation

Incidental Mutation 'R9487:Bach1'

716707

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 #

R9487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87495842-87530234 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87526733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 732 (S732T)

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: S732T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: S732T

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,221,665 (GRCm39)	D55N	possibly damaging	Het
Abcc2	G	A	19: 43,806,471 (GRCm39)	G762S	probably damaging	Het
Acta2	C	A	19: 34,225,865 (GRCm39)	A110S	probably damaging	Het
Adam26a	T	C	8: 44,022,456 (GRCm39)	T345A	possibly damaging	Het
Anapc11	T	C	11: 120,496,250 (GRCm39)	*85R	probably null	Het
Ang2	A	C	14: 51,433,071 (GRCm39)	C104G	probably damaging	Het
Ankzf1	G	A	1: 75,174,596 (GRCm39)	V529I	probably benign	Het
Aox4	G	T	1: 58,288,097 (GRCm39)	V737F	probably benign	Het
Aqr	T	C	2: 113,934,528 (GRCm39)	N1371S	probably benign	Het
Bcr	T	A	10: 74,967,431 (GRCm39)	I555N	probably damaging	Het
Bicra	T	C	7: 15,705,717 (GRCm39)	T1575A	probably damaging	Het
Bop1	A	G	15: 76,338,076 (GRCm39)	L598P	probably damaging	Het
Cacna1d	A	T	14: 29,845,419 (GRCm39)	F605L	possibly damaging	Het
Capn15	C	T	17: 26,184,353 (GRCm39)	V109I	possibly damaging	Het
Cdkn1b	T	C	6: 134,897,815 (GRCm39)		probably benign	Het
Dnah2	T	C	11: 69,406,617 (GRCm39)	T542A	possibly damaging	Het
Dsc2	A	T	18: 20,180,276 (GRCm39)	I159N	probably damaging	Het
Ecel1	A	T	1: 87,075,716 (GRCm39)	V774E	probably damaging	Het
Eif5b	T	G	1: 38,084,560 (GRCm39)	C849W	probably damaging	Het
Eif5b	T	A	1: 38,058,451 (GRCm39)	L251*	probably null	Het
Ext2	T	C	2: 93,592,956 (GRCm39)	D416G	probably damaging	Het
Fancm	G	A	12: 65,153,388 (GRCm39)	W1281*	probably null	Het
Flvcr1	A	T	1: 190,743,829 (GRCm39)	I409K	possibly damaging	Het
Foxk1	T	C	5: 142,437,389 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,560,905 (GRCm39)	I1201F	possibly damaging	Het
Gabra5	A	G	7: 57,157,873 (GRCm39)		probably benign	Het
Gmpr2	G	A	14: 55,915,778 (GRCm39)	V319I	probably damaging	Het
Gna12	A	T	5: 140,746,338 (GRCm39)	L369Q	probably damaging	Het
Gpr160	A	G	3: 30,950,914 (GRCm39)	R329G	probably benign	Het
H2-M10.3	T	C	17: 36,677,423 (GRCm39)	H285R	probably benign	Het
H2-M2	A	T	17: 37,793,424 (GRCm39)	V194E	probably benign	Het
Hephl1	G	A	9: 14,995,830 (GRCm39)	R431W	possibly damaging	Het
Hr	A	G	14: 70,793,877 (GRCm39)	T46A	probably benign	Het
Hr	A	G	14: 70,794,205 (GRCm39)	H126R	possibly damaging	Het
Hsf1	T	G	15: 76,382,398 (GRCm39)	D256E	probably benign	Het
Ifi208	C	T	1: 173,510,961 (GRCm39)	T372I	probably damaging	Het
Ifi47	T	G	11: 48,986,620 (GRCm39)	F129C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Irag2	A	G	6: 145,120,257 (GRCm39)	I491V	probably benign	Het
Itga11	A	T	9: 62,670,171 (GRCm39)	N765I	probably benign	Het
Klhl22	T	A	16: 17,589,663 (GRCm39)	I108K	probably benign	Het
Lancl1	T	G	1: 67,073,381 (GRCm39)	H34P	probably benign	Het
Lcor	C	A	19: 41,573,685 (GRCm39)	N813K	probably damaging	Het
Mbd3l1	G	A	9: 18,396,274 (GRCm39)	G133D	probably benign	Het
Med12l	T	C	3: 59,155,353 (GRCm39)	F1178L	probably benign	Het
Mrm1	A	T	11: 84,705,531 (GRCm39)	N289K	probably damaging	Het
Myf6	A	G	10: 107,330,073 (GRCm39)	Y165H	probably benign	Het
Myo1g	C	A	11: 6,456,913 (GRCm39)	C971F	probably benign	Het
Myo3a	T	C	2: 22,245,862 (GRCm39)	M3T	probably benign	Het
Nsrp1	G	A	11: 76,937,114 (GRCm39)	R361*	probably null	Het
Or10d4	A	C	9: 39,580,611 (GRCm39)	Q86P	possibly damaging	Het
Or10h1b	C	A	17: 33,395,548 (GRCm39)	H57Q	possibly damaging	Het
Or4a69	T	C	2: 89,312,756 (GRCm39)	H241R	probably damaging	Het
Or4a77	T	C	2: 89,487,731 (GRCm39)	D18G	probably damaging	Het
Or5p6	A	T	7: 107,631,163 (GRCm39)	I129N	possibly damaging	Het
Or8b41	G	A	9: 38,054,866 (GRCm39)	C140Y	probably benign	Het
Or8k53	T	A	2: 86,177,846 (GRCm39)	D88V	probably benign	Het
Oscar	T	G	7: 3,614,663 (GRCm39)	Y103S	probably damaging	Het
Pdpr	A	G	8: 111,852,925 (GRCm39)	N610S	probably benign	Het
Ppp4r3b	T	C	11: 29,124,697 (GRCm39)	I56T	probably damaging	Het
Pxdn	T	A	12: 30,044,552 (GRCm39)	V510D	possibly damaging	Het
Rab11fip5	T	C	6: 85,324,913 (GRCm39)	S465G	possibly damaging	Het
Rasgrf2	T	C	13: 92,267,759 (GRCm39)	T82A	probably benign	Het
Scmh1	G	A	4: 120,320,284 (GRCm39)	W30*	probably null	Het
Sema4g	T	C	19: 44,981,071 (GRCm39)	Y40H	probably benign	Het
Serpinf2	A	T	11: 75,323,494 (GRCm39)	M404K	probably damaging	Het
Sgk3	T	C	1: 9,950,616 (GRCm39)		probably null	Het
Slc16a5	A	T	11: 115,360,738 (GRCm39)	Y307F	possibly damaging	Het
Slc39a5	G	A	10: 128,233,628 (GRCm39)	L290F	probably damaging	Het
Snx32	A	C	19: 5,547,736 (GRCm39)	D191E	probably damaging	Het
Sp4	T	C	12: 118,262,859 (GRCm39)	I396V	probably benign	Het
Srrd	A	G	5: 112,490,765 (GRCm39)	V42A	unknown	Het
Stim1	A	G	7: 102,080,257 (GRCm39)	H547R	unknown	Het
Svep1	G	A	4: 58,070,517 (GRCm39)	A2423V	probably benign	Het
Tep1	A	G	14: 51,066,687 (GRCm39)	S2304P	possibly damaging	Het
Tkt	C	G	14: 30,281,795 (GRCm39)	S104R	probably benign	Het
Tkt	T	C	14: 30,281,796 (GRCm39)	S105P	probably damaging	Het
Tln1	A	T	4: 43,542,893 (GRCm39)	N1365K	probably damaging	Het
Topaz1	G	T	9: 122,604,707 (GRCm39)	A1104S	probably benign	Het
Trmt2a	A	G	16: 18,068,814 (GRCm39)	H270R	probably damaging	Het
Ttll10	G	T	4: 156,127,616 (GRCm39)	T389K	probably benign	Het
Tubal3	A	G	13: 3,980,674 (GRCm39)	I129V	probably benign	Het
Ucp3	A	G	7: 100,131,123 (GRCm39)	E192G	probably damaging	Het
Usp47	A	G	7: 111,677,063 (GRCm39)	D448G	probably damaging	Het
Vmn2r98	T	A	17: 19,301,496 (GRCm39)	L833M	possibly damaging	Het
Vps13d	A	G	4: 144,807,869 (GRCm39)		probably null	Het
Wdr7	A	G	18: 63,910,939 (GRCm39)	D777G	possibly damaging	Het
Zcchc8	A	G	5: 123,847,300 (GRCm39)	I213T	probably damaging	Het
Zfp281	T	C	1: 136,555,143 (GRCm39)	I707T	probably damaging	Het
Zfp335	T	C	2: 164,735,395 (GRCm39)	H1158R	probably damaging	Het
Zfp692	C	T	11: 58,199,765 (GRCm39)	T118M	probably damaging	Het
Zfr2	T	A	10: 81,075,969 (GRCm39)	L192Q	probably benign	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
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
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'- GACGGCGAGCTTGCTTTTAC -3'
(R):5'- TCTCCTATGAAAACCAAGGAGAACG -3'

Sequencing Primer
(F):5'- CGAGCTTGCTTTTACATCGG -3'
(R):5'- CCAAGGAGAACGCAGGATCAC -3'

Posted On

2022-07-18