Incidental Mutation 'R5491:Bach2'
| ID |
432078 |
| 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 |
043052-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5491 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
32238804-32586108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32562681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 383
(D383Y)
|
| 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: D383Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043693
Gene: ENSMUSG00000040270
AA Change: D383Y
| 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: D383Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103815
Gene: ENSMUSG00000040270
AA Change: D383Y
| 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: D383Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131592
Gene: ENSMUSG00000040270
AA Change: D383Y
| 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: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 89.9%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,462 (GRCm39) |
A182S |
possibly damaging |
Het |
| Aldh1l2 |
A |
T |
10: 83,358,649 (GRCm39) |
D2E |
probably benign |
Het |
| Cd248 |
T |
C |
19: 5,120,237 (GRCm39) |
L695P |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,580,861 (GRCm39) |
N132Y |
probably damaging |
Het |
| Cisd2 |
A |
T |
3: 135,114,601 (GRCm39) |
D123E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,615,435 (GRCm39) |
D1571V |
probably damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fbxo48 |
C |
T |
11: 16,904,280 (GRCm39) |
T144M |
probably damaging |
Het |
| Fbxo7 |
C |
A |
10: 85,883,890 (GRCm39) |
P497Q |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,925 (GRCm39) |
I596V |
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,657,905 (GRCm39) |
H88L |
possibly damaging |
Het |
| Gpat4 |
A |
G |
8: 23,670,680 (GRCm39) |
I133T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,485,576 (GRCm39) |
|
probably null |
Het |
| Ncaph |
T |
C |
2: 126,965,595 (GRCm39) |
T252A |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,439,783 (GRCm39) |
Y163* |
probably null |
Het |
| Neurod4 |
C |
T |
10: 130,106,936 (GRCm39) |
V113I |
possibly damaging |
Het |
| Or13j1 |
A |
G |
4: 43,705,990 (GRCm39) |
S193P |
probably damaging |
Het |
| Or3a1d |
A |
T |
11: 74,237,740 (GRCm39) |
H103Q |
probably benign |
Het |
| Or4f56 |
T |
A |
2: 111,703,907 (GRCm39) |
I98F |
probably benign |
Het |
| Pbxip1 |
T |
A |
3: 89,350,466 (GRCm39) |
M37K |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,137,590 (GRCm39) |
N184S |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,487,634 (GRCm39) |
P480L |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,246 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rassf1 |
T |
A |
9: 107,438,614 (GRCm39) |
M228K |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,139,303 (GRCm39) |
D231G |
probably damaging |
Het |
| She |
A |
T |
3: 89,739,097 (GRCm39) |
D96V |
probably damaging |
Het |
| Shisal1 |
C |
A |
15: 84,290,711 (GRCm39) |
V199L |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,749,627 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,562,702 (GRCm39) |
I28751F |
probably damaging |
Het |
| Zfp60 |
T |
G |
7: 27,447,940 (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 |
|
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'- TGTCGAGATGGACCGAAAAC -3'
(R):5'- AGTGTTCGGTTGGTCACACG -3'
Sequencing Primer
(F):5'- AGTACCCCTACTGGAGCCG -3'
(R):5'- TTGGTCACACGCGCTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation