Incidental Mutation 'R3827:Bach2'
ID |
273796 |
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 |
040775-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3827 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
32238804-32586108 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32563150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 539
(L539H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037416]
[ENSMUST00000108180]
[ENSMUST00000171600]
|
AlphaFold |
P97303 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037416
|
SMART Domains |
Protein: ENSMUSP00000043693 Gene: ENSMUSG00000040270
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 |
probably damaging
Transcript: ENSMUST00000108180
AA Change: L539H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103815 Gene: ENSMUSG00000040270 AA Change: L539H
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 |
noncoding transcript
Transcript: ENSMUST00000126225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149084
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171600
AA Change: L539H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131592 Gene: ENSMUSG00000040270 AA Change: L539H
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 |
|
Meta Mutation Damage Score |
0.0795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,110,467 (GRCm39) |
N878S |
probably benign |
Het |
Cntnap5a |
G |
A |
1: 116,045,409 (GRCm39) |
D342N |
probably benign |
Het |
Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
Dpp10 |
G |
A |
1: 123,339,519 (GRCm39) |
T336I |
possibly damaging |
Het |
Ehmt2 |
T |
C |
17: 35,125,741 (GRCm39) |
S625P |
possibly damaging |
Het |
Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
Gab2 |
T |
A |
7: 96,872,948 (GRCm39) |
I117N |
probably damaging |
Het |
Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
Gper1 |
T |
C |
5: 139,412,755 (GRCm39) |
S367P |
probably benign |
Het |
Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
H2-Q6 |
A |
T |
17: 35,644,655 (GRCm39) |
N148I |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,090,732 (GRCm39) |
|
probably null |
Het |
Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
Or52e19 |
T |
A |
7: 102,959,009 (GRCm39) |
I27N |
probably benign |
Het |
Paip1 |
T |
A |
13: 119,566,768 (GRCm39) |
M1K |
probably null |
Het |
Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
Skint6 |
G |
T |
4: 112,794,634 (GRCm39) |
L712I |
probably benign |
Het |
Slc35a4 |
C |
A |
18: 36,816,041 (GRCm39) |
N290K |
probably damaging |
Het |
Slco1a5 |
T |
A |
6: 142,198,975 (GRCm39) |
D230V |
probably damaging |
Het |
Sox21 |
C |
T |
14: 118,472,870 (GRCm39) |
E60K |
possibly damaging |
Het |
Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
Sulf1 |
G |
A |
1: 12,887,656 (GRCm39) |
V277I |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,033,805 (GRCm39) |
R3685G |
probably benign |
Het |
Tmem203 |
T |
A |
2: 25,146,018 (GRCm39) |
W113R |
possibly damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,914,787 (GRCm39) |
V784E |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,548 (GRCm39) |
T56A |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
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 |
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 |
|
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'- ACAAAGACCTTTCGGAGCCG -3'
(R):5'- AGAATGATCCAGACTCGTCACTG -3'
Sequencing Primer
(F):5'- CCGGTGCCAAAAAGTCTATG -3'
(R):5'- CAGACTCGTCACTGGAATTGG -3'
|
Posted On |
2015-04-02 |