Incidental Mutation 'R6064:Bach1'
ID 483988
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 044228-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6064 (G1)
Quality Score 198.009
Status Not validated
Chromosome 16
Chromosomal Location 87495842-87530234 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87526752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 738 (D738G)
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 damaging
Transcript: ENSMUST00000026703
AA Change: D738G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: D738G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 C T 5: 50,117,667 (GRCm39) D1294N probably damaging Het
Atf1 A G 15: 100,150,029 (GRCm39) T92A probably benign Het
Catsper3 T C 13: 55,954,065 (GRCm39) F278L probably damaging Het
Chsy3 GT G 18: 59,309,238 (GRCm39) 163 probably null Het
Cmya5 T A 13: 93,226,157 (GRCm39) N2977I probably damaging Het
Cnbd1 T A 4: 18,895,084 (GRCm39) E219D probably benign Het
Dst A G 1: 34,233,132 (GRCm39) D3556G probably damaging Het
Duox1 A G 2: 122,151,243 (GRCm39) E306G probably benign Het
Fstl5 T A 3: 76,229,605 (GRCm39) F135L probably benign Het
Fyb1 A C 15: 6,668,349 (GRCm39) K514T probably damaging Het
Gsap T A 5: 21,434,223 (GRCm39) C280S possibly damaging Het
Lrig1 T C 6: 94,603,428 (GRCm39) E240G probably damaging Het
Macc1 A T 12: 119,409,400 (GRCm39) H56L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Muc6 T C 7: 141,234,640 (GRCm39) R696G probably damaging Het
Nup210 T C 6: 91,032,273 (GRCm39) I32V probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Or5d16 A G 2: 87,773,828 (GRCm39) M48T probably benign Het
Or5h17 T G 16: 58,820,186 (GRCm39) I46S probably damaging Het
Ovch2 T C 7: 107,395,779 (GRCm39) T80A probably damaging Het
Rad51ap2 T A 12: 11,507,418 (GRCm39) Y447N possibly damaging Het
Rb1cc1 A G 1: 6,319,958 (GRCm39) T1126A probably benign Het
Scgb1b10 T C 7: 31,800,627 (GRCm39) L72S probably damaging Het
Slc25a33 A G 4: 149,836,921 (GRCm39) V141A probably benign Het
Tbx21 T C 11: 97,005,737 (GRCm39) Y76C probably damaging Het
Tmem235 T C 11: 117,753,764 (GRCm39) V107A possibly damaging Het
Vnn1 G T 10: 23,770,807 (GRCm39) A12S probably benign Het
Zfp606 T G 7: 12,214,960 (GRCm39) W63G possibly damaging Het
Zfp788 T A 7: 41,297,878 (GRCm39) F119L probably benign 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
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
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'- GACGGCGAGCTTGCTTTTAC -3'
(R):5'- CATCCAATTTCCCATCATTCAAGAG -3'

Sequencing Primer
(F):5'- CAGTGTGTCTGACGTGCCTC -3'
(R):5'- GAACATCTCCTATGAAAACCAAGGAG -3'
Posted On 2017-07-14