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)
|
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
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 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
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 |
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
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |