Incidental Mutation 'R8169:Bach1'
ID 633996
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 067595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8169 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 87495842-87530234 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87519390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 560 (C560Y)
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: C560Y

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: C560Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (80/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik C A 5: 139,349,812 (GRCm39) G79V probably damaging Het
4930562C15Rik T A 16: 4,684,082 (GRCm39) Y226N probably benign Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Casq2 G T 3: 102,017,628 (GRCm39) A103S possibly damaging Het
Cfap100 A G 6: 90,394,656 (GRCm39) F57S Het
Clca3a2 A T 3: 144,783,653 (GRCm39) L654Q probably damaging Het
Cntnap5c T A 17: 58,411,765 (GRCm39) probably null Het
Cplane2 A G 4: 140,945,530 (GRCm39) H127R probably damaging Het
Crtc2 G C 3: 90,170,883 (GRCm39) G652A probably damaging Het
Csnk1g2 A G 10: 80,475,636 (GRCm39) D401G probably damaging Het
Dars1 T C 1: 128,304,002 (GRCm39) N242D probably null Het
Dnah10 T C 5: 124,877,946 (GRCm39) L2677P probably damaging Het
Dnal1 G A 12: 84,171,330 (GRCm39) A3T probably benign Het
Dpep2 C T 8: 106,722,849 (GRCm39) V60I Het
Eeig1 T C 2: 32,453,760 (GRCm39) I203T probably benign Het
Ehmt2 T A 17: 35,122,339 (GRCm39) I302N probably benign Het
Eif3a C T 19: 60,750,628 (GRCm39) R1309Q unknown Het
Eno4 T A 19: 58,935,084 (GRCm39) Y100N probably benign Het
Ephx2 A T 14: 66,349,602 (GRCm39) probably null Het
Fbxw14 A T 9: 109,106,284 (GRCm39) I251K probably benign Het
Fcgbp T C 7: 27,784,919 (GRCm39) probably null Het
Foxm1 A C 6: 128,348,671 (GRCm39) probably null Het
Fscn3 T A 6: 28,430,328 (GRCm39) I166N possibly damaging Het
Gdpd4 G T 7: 97,621,335 (GRCm39) V193L probably benign Het
Gnpat T G 8: 125,606,869 (GRCm39) C352G probably benign Het
H2-Q7 T A 17: 35,658,910 (GRCm39) Y120* probably null Het
Klri1 G A 6: 129,694,070 (GRCm39) R6C probably benign Het
Kmo T C 1: 175,476,729 (GRCm39) V154A probably benign Het
Kmt2c A G 5: 25,559,685 (GRCm39) L1031P probably damaging Het
Lrrc14b T G 13: 74,511,286 (GRCm39) T265P possibly damaging Het
Lrrc2 C T 9: 110,809,954 (GRCm39) T330I probably benign Het
Lyn T A 4: 3,783,050 (GRCm39) S428T probably damaging Het
Lypd10 T A 7: 24,412,000 (GRCm39) M60K probably benign Het
Mfsd8 T A 3: 40,791,550 (GRCm39) M59L probably benign Het
Mok T A 12: 110,774,799 (GRCm39) Q341L probably benign Het
Muc21 T C 17: 35,932,072 (GRCm39) T705A unknown Het
Myh3 C A 11: 66,979,856 (GRCm39) N598K probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrp4e A G 7: 23,019,931 (GRCm39) I139M probably benign Het
Or11g25 T C 14: 50,723,692 (GRCm39) V259A probably benign Het
Or3a10 T A 11: 73,935,707 (GRCm39) Q131L possibly damaging Het
Or4b13 G A 2: 90,082,442 (GRCm39) R297* probably null Het
Or51g2 A G 7: 102,622,545 (GRCm39) L218P probably damaging Het
Or52n2b A T 7: 104,565,619 (GRCm39) Y295N possibly damaging Het
Osbpl7 G A 11: 96,945,676 (GRCm39) S312N probably damaging Het
Paxip1 A G 5: 27,977,093 (GRCm39) L323P unknown Het
Pcdh18 T A 3: 49,699,684 (GRCm39) H926L probably damaging Het
Pcm1 T G 8: 41,763,153 (GRCm39) S1460R possibly damaging Het
Pdha2 A G 3: 140,917,155 (GRCm39) S118P possibly damaging Het
Pdss1 A T 2: 22,791,824 (GRCm39) Y86F probably benign Het
Ppargc1a A T 5: 51,631,026 (GRCm39) D534E probably benign Het
Prune2 A G 19: 17,102,455 (GRCm39) K2538R probably benign Het
Ptprq A T 10: 107,418,351 (GRCm39) I1675N probably damaging Het
Rgma C T 7: 73,025,630 (GRCm39) P3L probably benign Het
Ros1 A G 10: 51,940,768 (GRCm39) probably null Het
Sema4g C T 19: 44,987,410 (GRCm39) R519W probably damaging Het
Serpinc1 T A 1: 160,820,971 (GRCm39) F139L probably damaging Het
Slc22a29 A G 19: 8,184,696 (GRCm39) I198T probably damaging Het
Slc4a5 T C 6: 83,280,373 (GRCm39) V1007A probably benign Het
Sptbn1 T C 11: 30,147,783 (GRCm39) Y17C possibly damaging Het
Tex261 C A 6: 83,751,999 (GRCm39) probably null Het
Timmdc1 T A 16: 38,331,148 (GRCm39) T128S probably benign Het
Tmem120b C A 5: 123,237,999 (GRCm39) Y96* probably null Het
Tmem196 T A 12: 119,982,311 (GRCm39) F182I possibly damaging Het
Tnxb G A 17: 34,918,181 (GRCm39) V2365M possibly damaging Het
Tph1 T C 7: 46,303,233 (GRCm39) silent Het
Trmt9b A T 8: 36,978,857 (GRCm39) K153N probably damaging Het
Trpc1 G A 9: 95,592,323 (GRCm39) Q551* probably null Het
Tubgcp3 T C 8: 12,666,099 (GRCm39) N828D probably benign Het
Unc13a C A 8: 72,108,933 (GRCm39) G478W probably damaging Het
Usp15 T A 10: 122,961,798 (GRCm39) T627S Het
Vmn1r115 A T 7: 20,578,144 (GRCm39) I256N probably damaging Het
Vmn2r6 T A 3: 64,447,310 (GRCm39) K585N probably benign Het
Vsir G T 10: 60,194,047 (GRCm39) probably null Het
Xirp2 A G 2: 67,343,543 (GRCm39) D1928G probably benign Het
Xylt1 A G 7: 117,249,846 (GRCm39) Y672C probably damaging Het
Yrdc A G 4: 124,744,880 (GRCm39) S105G probably benign Het
Zfc3h1 T A 10: 115,254,616 (GRCm39) N1403K probably damaging Het
Zfp160 A T 17: 21,247,298 (GRCm39) H616L probably damaging Het
Zfp637 T A 6: 117,822,252 (GRCm39) F127I probably damaging Het
Zfp69 G T 4: 120,787,731 (GRCm39) A528D probably damaging Het
Zpr1 T A 9: 46,189,645 (GRCm39) L342Q 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
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
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'- TGTAACAGGTGACTTCCCGTG -3'
(R):5'- GAACTCTGAATCTTACCTTGGAAC -3'

Sequencing Primer
(F):5'- GACTTCCCGTGTCACTGACGTAG -3'
(R):5'- CTCTGAATCTTACCTTGGAACTTAAG -3'
Posted On 2020-07-13