Incidental Mutation 'R8435:Bach2'
ID 653939
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 067824-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8435 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 32238804-32586108 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32501682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 20 (C20S)
Ref Sequence ENSEMBL: ENSMUSP00000131592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037416] [ENSMUST00000108180] [ENSMUST00000171600]
AlphaFold P97303
Predicted Effect probably damaging
Transcript: ENSMUST00000037416
AA Change: C20S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043693
Gene: ENSMUSG00000040270
AA Change: C20S

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 possibly damaging
Transcript: ENSMUST00000108180
AA Change: C20S

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103815
Gene: ENSMUSG00000040270
AA Change: C20S

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 possibly damaging
Transcript: ENSMUST00000171600
AA Change: C20S

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131592
Gene: ENSMUSG00000040270
AA Change: C20S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik G T 12: 24,146,881 (GRCm39) T30K possibly damaging Het
Adam20 C T 8: 41,248,072 (GRCm39) P61S probably damaging Het
Akip1 C T 7: 109,304,193 (GRCm39) S90L unknown Het
Atp13a5 C T 16: 29,099,747 (GRCm39) probably null Het
Atp1a1 A G 3: 101,490,078 (GRCm39) Y684H probably benign Het
Cage1 T C 13: 38,203,161 (GRCm39) I634M possibly damaging Het
Cckbr T C 7: 105,075,280 (GRCm39) S17P probably benign Het
Celsr2 T C 3: 108,321,715 (GRCm39) T366A probably benign Het
Cps1 G A 1: 67,251,589 (GRCm39) V1196I probably benign Het
Ddc A T 11: 11,814,902 (GRCm39) S188T probably damaging Het
Eml4 T C 17: 83,729,070 (GRCm39) C82R possibly damaging Het
Fig4 T A 10: 41,161,670 (GRCm39) H31L probably benign Het
Fkbp5 T C 17: 28,621,752 (GRCm39) D366G possibly damaging Het
Ift80 A G 3: 68,892,787 (GRCm39) S134P probably damaging Het
Lacc1 A T 14: 77,272,475 (GRCm39) V107D possibly damaging Het
Lcp2 A G 11: 34,004,316 (GRCm39) E51G probably damaging Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Lrp1 A G 10: 127,392,199 (GRCm39) Y2815H probably damaging Het
Lrp4 T C 2: 91,307,998 (GRCm39) L481P probably damaging Het
Ltbp4 C A 7: 27,034,870 (GRCm39) R97L unknown Het
Mbnl1 G A 3: 60,437,090 (GRCm39) W13* probably null Het
Neb T A 2: 52,157,729 (GRCm39) T2293S probably benign Het
Nrg3 CCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGC 14: 39,194,654 (GRCm39) probably benign Het
Odr4 T G 1: 150,258,020 (GRCm39) K205T possibly damaging Het
Or56b1 A T 7: 104,285,657 (GRCm39) T259S probably benign Het
Or5v1 A G 17: 37,809,676 (GRCm39) I45V probably benign Het
Or8a1b T A 9: 37,622,846 (GRCm39) H243L probably damaging Het
Pcmt1 G A 10: 7,515,825 (GRCm39) P221L possibly damaging Het
Plag1 T A 4: 3,905,648 (GRCm39) D14V probably benign Het
Ppp4r3a A G 12: 101,049,048 (GRCm39) S28P probably benign Het
Rab11fip5 T A 6: 85,314,522 (GRCm39) I1232F possibly damaging Het
Rpl18a C T 8: 71,348,341 (GRCm39) G114D possibly damaging Het
Rtel1 A G 2: 180,995,897 (GRCm39) D927G possibly damaging Het
Shcbp1 C T 8: 4,798,734 (GRCm39) C395Y probably benign Het
Slc22a28 T A 19: 8,048,565 (GRCm39) T361S probably benign Het
Slc35f5 C T 1: 125,488,994 (GRCm39) R5* probably null Het
Slc37a4 G A 9: 44,310,759 (GRCm39) C121Y probably damaging Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Tc2n C T 12: 101,615,376 (GRCm39) W483* probably null Het
Tex101 G A 7: 24,367,791 (GRCm39) T187I probably damaging Het
Trpc6 T C 9: 8,610,441 (GRCm39) L303P probably damaging Het
Trpv5 A T 6: 41,647,827 (GRCm39) Y329N probably damaging Het
Tshz1 C A 18: 84,032,149 (GRCm39) S753I probably damaging Het
Ttn G A 2: 76,546,264 (GRCm39) T32383I probably damaging Het
Txlnb A G 10: 17,703,544 (GRCm39) E234G probably damaging Het
Vmn1r120 T A 7: 20,787,557 (GRCm39) R51S probably benign Het
Vmn2r17 A T 5: 109,576,172 (GRCm39) T348S probably benign Het
Zdhhc21 T C 4: 82,753,714 (GRCm39) Y158C probably damaging Het
Zfp236 C T 18: 82,658,366 (GRCm39) G632D 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
R6770:Bach2 UTSW 4 32,575,240 (GRCm39) missense possibly damaging 0.81
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
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'- GATGCTTAGTAGTCCTGCTCC -3'
(R):5'- AGTGCACGTCTAACTTCCACC -3'

Sequencing Primer
(F):5'- CCTCTGCCAGGGCTCATG -3'
(R):5'- TGTACCTCCTCAGGCAAGCTG -3'
Posted On 2020-10-20