Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Bach1'

57551

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

038815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0626 (G1)

Quality Score

175

Status

Not validated

Chromosome

Chromosomal Location

87495842-87530234 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87526359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 607 (D607G)

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: D607G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: D607G

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

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,679,547 (GRCm39)		probably benign	Het
6430571L13Rik	T	A	9: 107,219,707 (GRCm39)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,527,736 (GRCm39)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,727,937 (GRCm39)	A85S	probably benign	Het
Acsl5	A	T	19: 55,272,904 (GRCm39)	M340L	probably benign	Het
Adam29	T	A	8: 56,324,612 (GRCm39)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,312,628 (GRCm39)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,312,441 (GRCm39)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,872,291 (GRCm39)	E510G	probably benign	Het
Angel1	A	G	12: 86,764,487 (GRCm39)		probably null	Het
Aox3	T	G	1: 58,211,458 (GRCm39)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,451,507 (GRCm39)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,066,193 (GRCm39)	D4387E	probably benign	Het
Apobr	T	C	7: 126,185,827 (GRCm39)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 68,203,108 (GRCm39)		probably null	Het
Aspm	G	T	1: 139,419,339 (GRCm39)	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,655,937 (GRCm39)	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,046,162 (GRCm39)		probably null	Het
Batf3	A	G	1: 190,832,935 (GRCm39)	D27G	probably damaging	Het
Baz1a	G	T	12: 55,022,055 (GRCm39)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,553,883 (GRCm39)	V86M	probably benign	Het
Birc7	A	G	2: 180,573,098 (GRCm39)	I172V	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,364,563 (GRCm39)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,612,520 (GRCm39)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,950,671 (GRCm39)	Y37H	probably benign	Het
Clasrp	A	T	7: 19,318,418 (GRCm39)		probably benign	Het
Clec2d	T	A	6: 129,160,090 (GRCm39)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,639,539 (GRCm39)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,349,422 (GRCm39)	D245V	probably benign	Het
Col5a1	T	A	2: 27,818,255 (GRCm39)	L160*	probably null	Het
Col6a6	T	C	9: 105,654,943 (GRCm39)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,951,490 (GRCm39)	H142Q	probably benign	Het
Cr2	A	C	1: 194,853,419 (GRCm39)	S20A	possibly damaging	Het
Ct45a	G	A	X: 55,590,399 (GRCm39)	P134L	probably benign	Het
Cyp2j5	A	T	4: 96,547,749 (GRCm39)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 130,703,811 (GRCm39)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,323,838 (GRCm39)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,368,509 (GRCm39)	S1709T	probably benign	Het
Dop1b	T	C	16: 93,560,844 (GRCm39)	V776A	probably damaging	Het
Emc3	T	C	6: 113,492,992 (GRCm39)	T220A	probably benign	Het
Entpd1	A	C	19: 40,715,769 (GRCm39)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,824,699 (GRCm39)	I229F	probably damaging	Het
Fancc	G	A	13: 63,465,205 (GRCm39)	P501S	probably damaging	Het
Fasn	T	C	11: 120,702,751 (GRCm39)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,819,302 (GRCm39)	I5012V	probably benign	Het
Glce	T	C	9: 61,968,282 (GRCm39)	T290A	probably benign	Het
Gns	G	A	10: 121,219,349 (GRCm39)		probably null	Het
Gsdma2	A	G	11: 98,542,810 (GRCm39)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,415,887 (GRCm39)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,674,470 (GRCm39)		probably null	Het
Jup	A	T	11: 100,267,589 (GRCm39)	M578K	probably benign	Het
Kir3dl1	G	A	X: 135,434,594 (GRCm39)		probably null	Het
Krt75	A	G	15: 101,482,025 (GRCm39)	F81S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Maged2	T	A	X: 149,594,830 (GRCm39)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,333,382 (GRCm39)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm39)	V74G	possibly damaging	Het
Naca	A	G	10: 127,877,031 (GRCm39)		probably benign	Het
Nav3	T	G	10: 109,659,325 (GRCm39)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,257,099 (GRCm39)	T293S	probably benign	Het
Numb	A	G	12: 83,842,614 (GRCm39)	Y510H	probably damaging	Het
Nynrin	T	G	14: 56,105,492 (GRCm39)	L834R	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2ak5	G	T	11: 58,611,347 (GRCm39)	H176N	probably benign	Het
Or8g18	T	A	9: 39,149,162 (GRCm39)	N186I	possibly damaging	Het
Otog	T	C	7: 45,920,797 (GRCm39)	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 24,996,554 (GRCm39)	V43A	possibly damaging	Het
Pcnx1	A	G	12: 82,030,450 (GRCm39)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 101,564,437 (GRCm39)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,111,765 (GRCm39)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,152,329 (GRCm39)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,794,549 (GRCm39)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,764,075 (GRCm39)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,087,359 (GRCm39)	R16*	probably null	Het
Polm	C	A	11: 5,786,207 (GRCm39)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,767,721 (GRCm39)	M1T	probably null	Het
Ptprh	G	A	7: 4,567,271 (GRCm39)	L534F	probably benign	Het
Rabl6	C	T	2: 25,482,778 (GRCm39)		probably null	Het
Rap2a	A	G	14: 120,716,403 (GRCm39)	S89G	probably damaging	Het
Rara	A	T	11: 98,862,406 (GRCm39)		probably null	Het
Reck	A	G	4: 43,930,295 (GRCm39)	D623G	probably benign	Het
Relt	A	T	7: 100,498,023 (GRCm39)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm39)		probably null	Het
Rtn4rl2	T	G	2: 84,710,763 (GRCm39)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,738,505 (GRCm39)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,435,495 (GRCm39)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,158,241 (GRCm39)	M107K	probably benign	Het
Smg1	T	C	7: 117,781,606 (GRCm39)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,063,734 (GRCm39)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,506,179 (GRCm39)	S465P	probably benign	Het
Sp4	A	G	12: 118,263,314 (GRCm39)	L244P	probably damaging	Het
Sulf1	A	G	1: 12,887,716 (GRCm39)		probably null	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Tbx10	C	A	19: 4,047,873 (GRCm39)	D206E	probably benign	Het
Tcea2	C	T	2: 181,329,431 (GRCm39)	P275S	probably damaging	Het
Tns3	C	A	11: 8,443,121 (GRCm39)	R414L	probably benign	Het
Trip11	T	C	12: 101,852,235 (GRCm39)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 87,073,720 (GRCm39)	K213R	probably null	Het
Unc80	A	G	1: 66,647,601 (GRCm39)	S1514G	probably benign	Het
Usp7	G	T	16: 8,511,778 (GRCm39)	Q867K	possibly damaging	Het
Vim	T	C	2: 13,579,463 (GRCm39)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,450,007 (GRCm39)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,610,517 (GRCm39)	Y58*	probably null	Het
Wdr36	C	A	18: 32,983,584 (GRCm39)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,532,359 (GRCm39)	W465R	probably damaging	Het
Zscan4d	T	A	7: 10,898,946 (GRCm39)	R110S	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
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
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'- AGGCAGCATTCAGCAGGGTCTTAC -3'
(R):5'- TTCGAGACAATGCCGAAGGTCAG -3'

Sequencing Primer
(F):5'- CATTCAGCAGGGTCTTACTGAAG -3'
(R):5'- CTGCTGACAGAAGTCTGAGATCC -3'

Posted On

2013-07-11