Incidental Mutation 'R5983:Bach2'
| ID |
481515 |
| 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 |
044164-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
32238804-32586108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32563324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 597
(E597V)
|
| 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: E474V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043693
Gene: ENSMUSG00000040270
AA Change: E474V
| 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: E597V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103815
Gene: ENSMUSG00000040270
AA Change: E597V
| 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: E597V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131592
Gene: ENSMUSG00000040270
AA Change: E597V
| 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 |
0.1342 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (29/29) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,807,942 (GRCm39) |
M861K |
probably benign |
Het |
| Abhd18 |
T |
A |
3: 40,864,979 (GRCm39) |
F73L |
probably damaging |
Het |
| Abraxas1 |
A |
G |
5: 100,955,777 (GRCm39) |
V237A |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,974,378 (GRCm39) |
Y208C |
probably damaging |
Het |
| Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
| Ccdc170 |
A |
T |
10: 4,470,851 (GRCm39) |
R232* |
probably null |
Het |
| Cfap100 |
A |
C |
6: 90,396,373 (GRCm39) |
|
probably benign |
Het |
| Dppa2 |
G |
A |
16: 48,136,204 (GRCm39) |
M185I |
probably benign |
Het |
| Ecsit |
C |
T |
9: 21,989,443 (GRCm39) |
|
probably null |
Het |
| Fbxw26 |
A |
G |
9: 109,547,033 (GRCm39) |
I464T |
possibly damaging |
Het |
| Grm8 |
T |
C |
6: 27,760,220 (GRCm39) |
K370R |
probably benign |
Het |
| Ide |
C |
T |
19: 37,249,549 (GRCm39) |
|
probably null |
Het |
| Katnip |
T |
A |
7: 125,449,545 (GRCm39) |
W870R |
probably damaging |
Het |
| Morn3 |
T |
C |
5: 123,175,851 (GRCm39) |
D179G |
possibly damaging |
Het |
| Nkapd1 |
A |
G |
9: 50,519,142 (GRCm39) |
S157P |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,964,471 (GRCm39) |
D102E |
probably benign |
Het |
| Or5an10 |
T |
A |
19: 12,276,467 (GRCm39) |
I10F |
probably benign |
Het |
| Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
| Rsph9 |
A |
G |
17: 46,440,406 (GRCm39) |
M230T |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,442,648 (GRCm39) |
V1565M |
probably damaging |
Het |
| Serpina3n |
T |
C |
12: 104,375,288 (GRCm39) |
L120P |
probably damaging |
Het |
| Spsb2 |
A |
C |
6: 124,786,711 (GRCm39) |
E148A |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,896 (GRCm39) |
M627K |
probably damaging |
Het |
| Tmem147 |
T |
C |
7: 30,427,484 (GRCm39) |
D111G |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,572,725 (GRCm39) |
V17729A |
possibly damaging |
Het |
| Vmn2r104 |
G |
A |
17: 20,261,970 (GRCm39) |
P387S |
probably damaging |
Het |
| Zfp940 |
C |
T |
7: 29,544,477 (GRCm39) |
V477M |
possibly damaging |
Het |
| Zw10 |
A |
G |
9: 48,988,745 (GRCm39) |
|
probably null |
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 |
|
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'- CGTATTCCTACGCAGAGGAC -3'
(R):5'- GGTCACCTTTAACCTTGACACC -3'
Sequencing Primer
(F):5'- TCCTACGCAGAGGACGGGAG -3'
(R):5'- AATGCCTCCATGAGATCTGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation