Incidental Mutation 'R4716:Bach1'
ID 354079
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 041983-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4716 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 87495842-87530234 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 87512267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156958
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,471,088 (GRCm39) R578* probably null Het
Adam8 T A 7: 139,563,851 (GRCm39) D717V probably benign Het
Aknad1 T C 3: 108,682,417 (GRCm39) probably null Het
Alk A T 17: 72,512,937 (GRCm39) W341R probably damaging Het
Ankdd1b G A 13: 96,591,091 (GRCm39) Q101* probably null Het
Anpep A C 7: 79,476,380 (GRCm39) S829A probably benign Het
Armh3 A G 19: 45,948,781 (GRCm39) S233P probably damaging Het
Ate1 A T 7: 130,115,511 (GRCm39) C72S probably damaging Het
Atp6v0a4 G A 6: 38,037,999 (GRCm39) L533F probably damaging Het
Baz2b T C 2: 59,799,599 (GRCm39) D240G probably benign Het
Cdc14b C T 13: 64,357,014 (GRCm39) S21N probably damaging Het
Cdh3 A G 8: 107,270,520 (GRCm39) I466V probably benign Het
Cog1 A G 11: 113,547,923 (GRCm39) E137G probably damaging Het
Col4a2 A G 8: 11,452,224 (GRCm39) D180G probably damaging Het
Cyp2c40 A T 19: 39,791,105 (GRCm39) probably null Het
Dclk2 C T 3: 86,827,188 (GRCm39) R97H probably damaging Het
Ddx52 T C 11: 83,846,031 (GRCm39) probably null Het
Dhx58 C T 11: 100,587,797 (GRCm39) probably null Het
Dmp1 T A 5: 104,360,427 (GRCm39) S368T probably damaging Het
Dnah17 C A 11: 117,964,474 (GRCm39) V2435L probably benign Het
Dnajc7 A G 11: 100,510,402 (GRCm39) V10A probably benign Het
Dscam G T 16: 96,420,771 (GRCm39) T1705K possibly damaging Het
Dscaml1 G A 9: 45,361,890 (GRCm39) V217M probably damaging Het
Dync2h1 A G 9: 7,142,648 (GRCm39) probably null Het
F5 A G 1: 164,021,488 (GRCm39) D1321G probably damaging Het
Fam174a C T 1: 95,241,770 (GRCm39) P77S probably benign Het
Fars2 G A 13: 36,389,051 (GRCm39) R180H probably damaging Het
Fnbp1 T C 2: 30,945,532 (GRCm39) T154A probably benign Het
Fsip2 T A 2: 82,805,203 (GRCm39) N507K probably damaging Het
Glg1 G T 8: 111,887,407 (GRCm39) Y449* probably null Het
Gm15130 A T 2: 110,964,560 (GRCm39) Y187* probably null Het
Gm973 A T 1: 59,591,713 (GRCm39) K366* probably null Het
H2bc11 T A 13: 22,227,533 (GRCm39) V45E possibly damaging Het
Hao1 A G 2: 134,347,540 (GRCm39) I255T probably damaging Het
Herc6 T A 6: 57,575,423 (GRCm39) V148E probably damaging Het
Insm2 T A 12: 55,647,677 (GRCm39) C474S possibly damaging Het
Itch T C 2: 155,052,502 (GRCm39) probably null Het
Itga2 A G 13: 114,993,909 (GRCm39) V748A probably damaging Het
Itga9 T A 9: 118,510,826 (GRCm39) S452T probably damaging Het
Kdm4b C A 17: 56,693,178 (GRCm39) D338E probably benign Het
Krt40 G A 11: 99,431,045 (GRCm39) R155C probably damaging Het
Krtap16-1 A G 11: 99,876,000 (GRCm39) V468A probably damaging Het
Lactb2 G A 1: 13,708,619 (GRCm39) P143L probably damaging Het
Lrba C A 3: 86,550,021 (GRCm39) T2330K probably damaging Het
Lrp2bp A T 8: 46,466,208 (GRCm39) I106F probably benign Het
Luzp2 A G 7: 54,485,710 (GRCm39) K2E probably damaging Het
Lypd6 T C 2: 50,078,855 (GRCm39) probably null Het
Maml1 A T 11: 50,148,694 (GRCm39) D1015E probably benign Het
Mdfi T G 17: 48,131,906 (GRCm39) D106A possibly damaging Het
Olfm3 T C 3: 114,874,755 (GRCm39) M17T probably benign Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or2o1 A G 11: 49,051,717 (GRCm39) Y292C probably damaging Het
Or8c16 T A 9: 38,130,714 (GRCm39) N198K probably damaging Het
Or8g30 A G 9: 39,230,725 (GRCm39) F62L probably benign Het
Otud7b T G 3: 96,058,227 (GRCm39) L261V probably damaging Het
P2ry1 A G 3: 60,910,893 (GRCm39) N11D probably damaging Het
Pate2 T C 9: 35,596,978 (GRCm39) probably benign Het
Pcdhb16 A T 18: 37,612,458 (GRCm39) T473S probably benign Het
Per1 A G 11: 68,992,057 (GRCm39) E137G probably damaging Het
Phf11d T C 14: 59,590,791 (GRCm39) T189A probably benign Het
Pik3r5 C A 11: 68,386,030 (GRCm39) S738R possibly damaging Het
Pikfyve A G 1: 65,285,635 (GRCm39) Y913C possibly damaging Het
Pkd1 T G 17: 24,795,107 (GRCm39) S2265A probably damaging Het
Pkhd1l1 C A 15: 44,419,428 (GRCm39) N2964K probably damaging Het
Plch1 T G 3: 63,688,967 (GRCm39) D79A probably damaging Het
Pnliprp1 A C 19: 58,728,901 (GRCm39) T363P possibly damaging Het
Ppp1r10 T A 17: 36,240,352 (GRCm39) D547E probably benign Het
Prkdc T A 16: 15,628,701 (GRCm39) I3482K probably benign Het
Ptpn4 A G 1: 119,649,598 (GRCm39) Y333H probably damaging Het
Ptpru T A 4: 131,548,279 (GRCm39) M73L probably benign Het
Rrp12 A G 19: 41,865,867 (GRCm39) Y698H probably damaging Het
Scaf8 T C 17: 3,227,398 (GRCm39) F338L unknown Het
Slc17a1 G T 13: 24,064,576 (GRCm39) V347L probably benign Het
Slc1a2 T A 2: 102,578,883 (GRCm39) V263E probably damaging Het
Slc29a4 T C 5: 142,704,327 (GRCm39) V327A probably benign Het
Slc6a3 A C 13: 73,705,195 (GRCm39) I229L probably benign Het
Sos2 T C 12: 69,654,145 (GRCm39) I703V probably benign Het
Srpk1 T C 17: 28,840,982 (GRCm39) T15A probably benign Het
St6gal2 A T 17: 55,817,367 (GRCm39) Q510L probably benign Het
Stk24 T C 14: 121,532,130 (GRCm39) D289G possibly damaging Het
Taf2 T G 15: 54,929,364 (GRCm39) K64T probably benign Het
Tbx3 A G 5: 119,813,735 (GRCm39) E257G possibly damaging Het
Tmem102 A T 11: 69,695,022 (GRCm39) F317I probably damaging Het
Trav10 A G 14: 53,743,497 (GRCm39) S33G possibly damaging Het
Ttn T A 2: 76,745,408 (GRCm39) I5214F probably damaging Het
Ube2f T A 1: 91,182,002 (GRCm39) L2Q probably damaging Het
Ube4b A G 4: 149,429,069 (GRCm39) F857L probably damaging Het
Vmn2r18 T A 5: 151,485,602 (GRCm39) I631F possibly damaging Het
Zfp280d T A 9: 72,219,947 (GRCm39) S241T possibly damaging Het
Zfp638 T A 6: 83,956,544 (GRCm39) L1717* probably null Het
Zfp719 A G 7: 43,240,535 (GRCm39) N708D possibly damaging Het
Other mutations in Bach1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On 2015-10-21