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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |