Incidental Mutation 'R7030:Bach1'
ID 546282
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 045131-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7030 (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 87516179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 240 (R240Q)
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: R240Q

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026703
Gene: ENSMUSG00000025612
AA Change: R240Q

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (92/94)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 G T 4: 144,430,173 (GRCm39) A272D possibly damaging Het
Abr A T 11: 76,350,038 (GRCm39) I347N probably damaging Het
Acbd4 T A 11: 102,994,985 (GRCm39) L50Q probably damaging Het
Acsl5 T G 19: 55,261,251 (GRCm39) Y69* probably null Het
Agtpbp1 G A 13: 59,652,108 (GRCm39) T401I probably damaging Het
Ap3m2 C T 8: 23,289,807 (GRCm39) E99K probably damaging Het
Arhgef28 A T 13: 98,124,769 (GRCm39) S504R possibly damaging Het
Arsj T A 3: 126,232,752 (GRCm39) D499E probably damaging Het
Camk2b T C 11: 5,939,575 (GRCm39) D232G probably damaging Het
Casc3 C T 11: 98,713,359 (GRCm39) P258S possibly damaging Het
Catspere2 T A 1: 177,845,280 (GRCm39) I100N probably damaging Het
Ccdc80 T A 16: 44,943,252 (GRCm39) N787K possibly damaging Het
Celsr1 C A 15: 85,789,679 (GRCm39) C2653F probably damaging Het
Cep170 T C 1: 176,584,051 (GRCm39) E11G probably damaging Het
Chia1 A C 3: 106,022,641 (GRCm39) N12H probably damaging Het
Chrna4 T C 2: 180,671,334 (GRCm39) T141A probably damaging Het
Col25a1 T C 3: 130,272,671 (GRCm39) probably null Het
Dcstamp A T 15: 39,622,929 (GRCm39) I417F probably damaging Het
Dnah5 A G 15: 28,238,738 (GRCm39) I427V probably benign Het
Dnah5 A G 15: 28,333,208 (GRCm39) E2203G probably benign Het
Dnmt3c A T 2: 153,559,345 (GRCm39) S409C probably damaging Het
Dock6 A T 9: 21,724,375 (GRCm39) M1541K probably damaging Het
Dzip1l C T 9: 99,547,888 (GRCm39) T714I probably benign Het
Exoc6b T C 6: 84,825,807 (GRCm39) R535G probably damaging Het
Fam83h A G 15: 75,876,588 (GRCm39) S250P probably benign Het
Fat4 C T 3: 39,036,107 (GRCm39) T3253I probably damaging Het
Fer1l6 T A 15: 58,501,227 (GRCm39) F1302I probably damaging Het
Fmnl1 T G 11: 103,085,600 (GRCm39) probably benign Het
Gckr C A 5: 31,459,554 (GRCm39) F201L possibly damaging Het
Gm10036 A G 18: 15,966,292 (GRCm39) T148A probably benign Het
Gm5142 G A 14: 59,415,909 (GRCm39) S83F probably benign Het
Gpr37 A T 6: 25,689,004 (GRCm39) V31D possibly damaging Het
Gramd2b A T 18: 56,618,321 (GRCm39) Y207F probably damaging Het
Hr T C 14: 70,801,124 (GRCm39) probably null Het
Igf2r A G 17: 12,952,753 (GRCm39) L231P probably damaging Het
Ighv1-66 A T 12: 115,557,157 (GRCm39) W3R probably damaging Het
Insyn2b T A 11: 34,352,030 (GRCm39) V24E probably damaging Het
Kcnu1 T C 8: 26,408,491 (GRCm39) S101P probably benign Het
Klhl23 T G 2: 69,664,310 (GRCm39) V553G probably damaging Het
Lrp1 T C 10: 127,388,745 (GRCm39) I3235V probably damaging Het
Mb A T 15: 76,900,256 (GRCm39) I57N probably damaging Het
Micu1 T C 10: 59,624,843 (GRCm39) I295T possibly damaging Het
Mink1 G A 11: 70,498,601 (GRCm39) V589I possibly damaging Het
Mndal T C 1: 173,703,160 (GRCm39) K82E probably damaging Het
Mroh1 A C 15: 76,321,517 (GRCm39) K1066T probably benign Het
Muc5b T A 7: 141,396,192 (GRCm39) N149K unknown Het
Myo7b G T 18: 32,104,626 (GRCm39) L1404I probably damaging Het
Nlrc4 A G 17: 74,753,001 (GRCm39) S461P probably damaging Het
Nudt12 A T 17: 59,310,348 (GRCm39) D418E probably benign Het
Or2g7 T A 17: 38,378,948 (GRCm39) D295E probably benign Het
Or5g27 G T 2: 85,409,746 (GRCm39) R54S possibly damaging Het
Pcdha1 A G 18: 37,292,326 (GRCm39) H817R probably damaging Het
Pcdha4 A G 18: 37,087,080 (GRCm39) Y421C probably damaging Het
Pcf11 T C 7: 92,306,886 (GRCm39) D1094G probably benign Het
Pck2 A T 14: 55,785,223 (GRCm39) D427V probably damaging Het
Pclo A G 5: 14,726,421 (GRCm39) T1760A probably benign Het
Pdzk1ip1 T A 4: 114,950,188 (GRCm39) Y83N probably damaging Het
Pgs1 T C 11: 117,893,312 (GRCm39) I213T probably damaging Het
Plin4 T A 17: 56,410,969 (GRCm39) T1021S probably damaging Het
Plxnb1 T A 9: 108,941,375 (GRCm39) I1677N probably damaging Het
Pm20d2 T C 4: 33,174,752 (GRCm39) E378G possibly damaging Het
Prkcq T G 2: 11,231,661 (GRCm39) probably null Het
Psmd2 C T 16: 20,480,883 (GRCm39) P780L probably damaging Het
Pvr A G 7: 19,639,105 (GRCm39) S392P possibly damaging Het
Rad51ap2 G C 12: 11,507,432 (GRCm39) L451F possibly damaging Het
Rbm20 A G 19: 53,823,197 (GRCm39) E598G probably damaging Het
Rho A T 6: 115,912,504 (GRCm39) N123Y possibly damaging Het
Rictor T C 15: 6,737,934 (GRCm39) probably null Het
Rilpl2 T G 5: 124,606,656 (GRCm39) K186T probably damaging Het
Rps6ka4 A C 19: 6,816,992 (GRCm39) L61R probably damaging Het
Sds C A 5: 120,618,890 (GRCm39) Q118K probably benign Het
Septin1 C T 7: 126,816,157 (GRCm39) R91K probably benign Het
Sf3a3 A G 4: 124,616,673 (GRCm39) Y185C probably damaging Het
Shtn1 T C 19: 58,998,266 (GRCm39) M376V possibly damaging Het
Slc6a9 A G 4: 117,714,633 (GRCm39) T189A possibly damaging Het
Slc7a6 T G 8: 106,922,606 (GRCm39) V464G possibly damaging Het
Smg8 T A 11: 86,975,919 (GRCm39) D554V probably damaging Het
Sox8 A G 17: 25,789,082 (GRCm39) probably null Het
Spata31e4 G T 13: 50,857,019 (GRCm39) V886L possibly damaging Het
Spats2l T A 1: 57,918,689 (GRCm39) V41D probably damaging Het
Sult2a3 A T 7: 13,801,493 (GRCm39) F282Y probably damaging Het
Svs3a T G 2: 164,132,091 (GRCm39) Y220D probably damaging Het
Teddm1a T A 1: 153,768,369 (GRCm39) Y278N probably damaging Het
Tlk1 T C 2: 70,552,272 (GRCm39) Y526C probably damaging Het
Tmc3 T A 7: 83,266,025 (GRCm39) probably null Het
Ttn T A 2: 76,596,583 (GRCm39) E20110V probably damaging Het
Tulp4 A G 17: 6,264,941 (GRCm39) D235G probably damaging Het
Usp50 T C 2: 126,622,395 (GRCm39) Y55C possibly damaging Het
Vmn1r224 T C 17: 20,639,789 (GRCm39) L122P probably benign Het
Vmn2r62 A G 7: 42,438,473 (GRCm39) L121P possibly damaging Het
Whrn G T 4: 63,413,368 (GRCm39) probably benign Het
Zer1 G T 2: 30,001,033 (GRCm39) H129Q probably benign Het
Zfand4 G A 6: 116,282,618 (GRCm39) A64T 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
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
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'- TTCAGACGCCTCAGTGTGAC -3'
(R):5'- TGCAGAATCCTGAGGCAAG -3'

Sequencing Primer
(F):5'- TCAGTGTGACTCCCGCAG -3'
(R):5'- AATCCTGAGGCAAGGGTGTCC -3'
Posted On 2019-05-13