Incidental Mutation 'R6770:Bach2'
ID 532117
Institutional Source Beutler Lab
Gene Symbol Bach2
Ensembl Gene ENSMUSG00000040270
Gene Name BTB and CNC homology, basic leucine zipper transcription factor 2
Synonyms E030004N02Rik
MMRRC Submission 044886-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6770 (G1)
Quality Score 186.009
Status Validated
Chromosome 4
Chromosomal Location 32238804-32586108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32575240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 489 (V489I)
Ref Sequence ENSEMBL: ENSMUSP00000043693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037416] [ENSMUST00000108180] [ENSMUST00000171600]
AlphaFold P97303
Predicted Effect possibly damaging
Transcript: ENSMUST00000037416
AA Change: V489I

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043693
Gene: ENSMUSG00000040270
AA Change: V489I

DomainStartEndE-ValueType
BTB 37 133 3.21e-28 SMART
low complexity region 276 287 N/A INTRINSIC
low complexity region 313 326 N/A INTRINSIC
low complexity region 328 343 N/A INTRINSIC
BRLZ 520 584 2.3e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108180
AA Change: V612I

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103815
Gene: ENSMUSG00000040270
AA Change: V612I

DomainStartEndE-ValueType
BTB 37 133 3.21e-28 SMART
low complexity region 276 287 N/A INTRINSIC
low complexity region 313 326 N/A INTRINSIC
low complexity region 328 343 N/A INTRINSIC
low complexity region 514 527 N/A INTRINSIC
BRLZ 643 707 2.3e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171600
AA Change: V612I

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000131592
Gene: ENSMUSG00000040270
AA Change: V612I

DomainStartEndE-ValueType
BTB 37 133 3.21e-28 SMART
low complexity region 276 287 N/A INTRINSIC
low complexity region 313 326 N/A INTRINSIC
low complexity region 328 343 N/A INTRINSIC
low complexity region 514 527 N/A INTRINSIC
BRLZ 643 707 2.3e-14 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (45/45)
MGI Phenotype PHENOTYPE: Homozygous null mice display impaired B cell differentiation and reduced B cell numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adk A G 14: 21,284,982 (GRCm39) K102E probably damaging Het
Bin1 A G 18: 32,539,202 (GRCm39) E45G probably damaging Het
Btnl4 A G 17: 34,693,011 (GRCm39) Y135H probably benign Het
Btnl9 T C 11: 49,066,392 (GRCm39) probably null Het
Cdh10 A G 15: 18,985,308 (GRCm39) D324G probably benign Het
Cfi T C 3: 129,652,379 (GRCm39) S269P probably benign Het
Ctbp1 G A 5: 33,408,204 (GRCm39) Q243* probably null Het
Dnajc1 G T 2: 18,222,082 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fbxo39 T G 11: 72,208,622 (GRCm39) S325A possibly damaging Het
Gbe1 T C 16: 70,198,726 (GRCm39) S140P probably damaging Het
Gbe1 T A 16: 70,111,153 (GRCm39) L38Q possibly damaging Het
Gm5114 T C 7: 39,057,967 (GRCm39) S551G possibly damaging Het
Ina C T 19: 47,003,366 (GRCm39) probably benign Het
Irs3 A G 5: 137,643,475 (GRCm39) V103A possibly damaging Het
Ldb2 T A 5: 44,826,738 (GRCm39) T66S probably damaging Het
Lrp4 C T 2: 91,327,648 (GRCm39) A1499V probably benign Het
Nde1 G A 16: 14,006,242 (GRCm39) V96I probably damaging Het
Nrap T C 19: 56,370,969 (GRCm39) probably null Het
Nrxn1 G T 17: 90,344,607 (GRCm39) N435K probably damaging Het
Obscn T C 11: 58,934,862 (GRCm39) D5256G possibly damaging Het
Or1e25 A G 11: 73,493,804 (GRCm39) T133A probably benign Het
Or4a75 A G 2: 89,448,206 (GRCm39) V110A probably benign Het
Or52n20 T A 7: 104,320,725 (GRCm39) I272N probably damaging Het
Or8c14-ps1 T C 9: 38,101,479 (GRCm39) F153L possibly damaging Het
Otoa T A 7: 120,744,837 (GRCm39) M865K probably benign Het
Otud1 A G 2: 19,663,993 (GRCm39) E374G probably benign Het
Pigz T A 16: 31,764,568 (GRCm39) L542H probably damaging Het
Plekhg5 A G 4: 152,187,536 (GRCm39) T101A probably benign Het
Ppic A T 18: 53,544,657 (GRCm39) V51E probably benign Het
Ptpn14 G A 1: 189,564,970 (GRCm39) V186M probably damaging Het
Ryr2 T A 13: 11,753,348 (GRCm39) T1658S probably damaging Het
Scn7a T A 2: 66,559,528 (GRCm39) probably null Het
Siva1 G A 12: 112,614,358 (GRCm39) C73Y probably damaging Het
Slc4a1ap G A 5: 31,685,226 (GRCm39) probably null Het
Sltm A G 9: 70,492,059 (GRCm39) I683V unknown Het
Srgap2 A T 1: 131,226,248 (GRCm39) C22S probably benign Het
Stxbp1 C T 2: 32,709,901 (GRCm39) R64H probably benign Het
Suv39h2 T C 2: 3,473,588 (GRCm39) N114S possibly damaging Het
Tas2r136 T C 6: 132,754,345 (GRCm39) I261V probably benign Het
Trav14-2 A C 14: 53,878,629 (GRCm39) H76P probably damaging Het
Ttc28 T C 5: 111,434,006 (GRCm39) S2316P probably damaging Het
Ubr4 T C 4: 139,216,493 (GRCm39) I5141T unknown Het
Usp46 A G 5: 74,193,015 (GRCm39) V87A probably benign Het
Zfp423 T C 8: 88,508,445 (GRCm39) N612S probably damaging Het
Other mutations in Bach2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01749:Bach2 APN 4 32,580,261 (GRCm39) missense probably damaging 1.00
IGL02137:Bach2 APN 4 32,501,621 (GRCm39) start gained probably benign
IGL02281:Bach2 APN 4 32,562,513 (GRCm39) missense possibly damaging 0.78
IGL02333:Bach2 APN 4 32,575,334 (GRCm39) nonsense probably null
IGL02369:Bach2 APN 4 32,579,975 (GRCm39) missense possibly damaging 0.85
IGL02533:Bach2 APN 4 32,562,451 (GRCm39) missense probably benign 0.00
Magnificat UTSW 4 32,563,324 (GRCm39) missense probably damaging 1.00
R0011:Bach2 UTSW 4 32,244,655 (GRCm39) intron probably benign
R1240:Bach2 UTSW 4 32,563,198 (GRCm39) missense probably damaging 1.00
R1501:Bach2 UTSW 4 32,562,279 (GRCm39) missense possibly damaging 0.86
R2004:Bach2 UTSW 4 32,580,055 (GRCm39) missense probably benign 0.36
R2171:Bach2 UTSW 4 32,501,662 (GRCm39) missense probably damaging 0.97
R3827:Bach2 UTSW 4 32,563,150 (GRCm39) missense probably damaging 1.00
R3829:Bach2 UTSW 4 32,563,150 (GRCm39) missense probably damaging 1.00
R3830:Bach2 UTSW 4 32,563,150 (GRCm39) missense probably damaging 1.00
R4564:Bach2 UTSW 4 32,563,338 (GRCm39) missense probably damaging 1.00
R4660:Bach2 UTSW 4 32,562,777 (GRCm39) missense probably benign
R5132:Bach2 UTSW 4 32,563,396 (GRCm39) intron probably benign
R5307:Bach2 UTSW 4 32,562,683 (GRCm39) missense probably benign 0.11
R5491:Bach2 UTSW 4 32,562,681 (GRCm39) missense probably damaging 1.00
R5860:Bach2 UTSW 4 32,580,268 (GRCm39) missense probably damaging 1.00
R5983:Bach2 UTSW 4 32,563,324 (GRCm39) missense probably damaging 1.00
R6331:Bach2 UTSW 4 32,238,816 (GRCm39) start gained probably benign
R6806:Bach2 UTSW 4 32,575,301 (GRCm39) missense possibly damaging 0.66
R7146:Bach2 UTSW 4 32,562,670 (GRCm39) missense probably damaging 1.00
R7691:Bach2 UTSW 4 32,580,271 (GRCm39) missense probably damaging 1.00
R8062:Bach2 UTSW 4 32,562,937 (GRCm39) missense probably damaging 1.00
R8192:Bach2 UTSW 4 32,562,294 (GRCm39) missense probably benign 0.04
R8425:Bach2 UTSW 4 32,562,316 (GRCm39) missense probably benign
R8435:Bach2 UTSW 4 32,501,682 (GRCm39) missense possibly damaging 0.82
R8829:Bach2 UTSW 4 32,562,028 (GRCm39) missense probably damaging 0.96
R8854:Bach2 UTSW 4 32,575,263 (GRCm39) missense possibly damaging 0.93
R9329:Bach2 UTSW 4 32,562,175 (GRCm39) missense possibly damaging 0.92
R9739:Bach2 UTSW 4 32,563,042 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTACTTCCCATGACTTGCTCA -3'
(R):5'- TGAATACAGTCCAGCTTCCTC -3'

Sequencing Primer
(F):5'- TGCAGAGGACCCAAGTTCAGTTC -3'
(R):5'- TCTTTCGACAGCGCTGG -3'
Posted On 2018-08-29