Incidental Mutation 'R6806:Bach2'
| ID |
537471 |
| 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 |
044919-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6806 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
32238804-32586108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32575301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 509
(M509K)
|
| 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: M509K
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043693
Gene: ENSMUSG00000040270
AA Change: M509K
| 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: M632K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103815
Gene: ENSMUSG00000040270
AA Change: M632K
| 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: M632K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000131592
Gene: ENSMUSG00000040270
AA Change: M632K
| 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 |
0.0680 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
95% (39/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,075,669 (GRCm39) |
Y437C |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,345,207 (GRCm39) |
D132E |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,288,098 (GRCm39) |
S258P |
probably damaging |
Het |
| Ccdc186 |
T |
A |
19: 56,788,561 (GRCm39) |
K549N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,094 (GRCm39) |
R238H |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 99,868,374 (GRCm39) |
C30Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,342 (GRCm39) |
Q520R |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,411 (GRCm39) |
|
probably null |
Het |
| Ebna1bp2 |
T |
C |
4: 118,478,174 (GRCm39) |
C16R |
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,751,826 (GRCm39) |
Y579H |
possibly damaging |
Het |
| Ifi206 |
C |
T |
1: 173,309,137 (GRCm39) |
M286I |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,492,908 (GRCm39) |
V2478I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,950 (GRCm39) |
E6G |
unknown |
Het |
| Ltbp2 |
T |
C |
12: 84,856,012 (GRCm39) |
S744G |
possibly damaging |
Het |
| Magi3 |
T |
A |
3: 103,954,285 (GRCm39) |
N684I |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,449,206 (GRCm39) |
|
probably null |
Het |
| Nphp4 |
G |
T |
4: 152,622,558 (GRCm39) |
Q614H |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,217,509 (GRCm39) |
I11T |
probably damaging |
Het |
| Or51q1 |
G |
T |
7: 103,628,771 (GRCm39) |
R124L |
possibly damaging |
Het |
| Pank2 |
T |
C |
2: 131,104,627 (GRCm39) |
|
probably benign |
Het |
| Prss58 |
A |
T |
6: 40,874,666 (GRCm39) |
N58K |
probably damaging |
Het |
| Ptk7 |
C |
T |
17: 46,884,454 (GRCm39) |
V759M |
probably damaging |
Het |
| Rassf7 |
A |
G |
7: 140,796,722 (GRCm39) |
T28A |
probably damaging |
Het |
| Rbm45 |
C |
T |
2: 76,210,804 (GRCm39) |
T445I |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rsrc2 |
T |
G |
5: 123,877,594 (GRCm39) |
|
probably benign |
Het |
| Saxo2 |
A |
T |
7: 82,284,240 (GRCm39) |
I206N |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 86,011,640 (GRCm39) |
Y409N |
probably damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,851,032 (GRCm39) |
N365K |
probably benign |
Het |
| Stkld1 |
C |
G |
2: 26,833,922 (GRCm39) |
N136K |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,461,166 (GRCm39) |
D904G |
possibly damaging |
Het |
| Tmf1 |
G |
A |
6: 97,138,408 (GRCm39) |
R837* |
probably null |
Het |
| Tnn |
T |
C |
1: 159,948,278 (GRCm39) |
T812A |
possibly damaging |
Het |
| Trgj4 |
T |
C |
13: 19,526,365 (GRCm39) |
L15P |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,059,147 (GRCm39) |
I905V |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,786,308 (GRCm39) |
|
probably benign |
Het |
| Zfp446 |
T |
C |
7: 12,713,043 (GRCm39) |
L27P |
probably damaging |
Het |
| Zfp719 |
A |
G |
7: 43,235,809 (GRCm39) |
D57G |
possibly damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,985,766 (GRCm39) |
|
probably benign |
Het |
| Zfp978 |
G |
A |
4: 147,475,284 (GRCm39) |
R277K |
probably benign |
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 |
|
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'- CCCATGACTTGCTCATCTTAAAA -3'
(R):5'- GCTGAGTACCTGCCCACCA -3'
Sequencing Primer
(F):5'- TGCAGAGGACCCAAGTTCAGTTC -3'
(R):5'- AACTCACCAGTTTCCGTATTTCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation