Incidental Mutation 'R4564:Bach2'
| ID |
343232 |
| 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 |
041789-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4564 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
32238804-32586108 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 32563338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 602
(S602A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037416]
[ENSMUST00000108180]
[ENSMUST00000171600]
|
| AlphaFold |
P97303 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037416
AA Change: S479A
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043693
Gene: ENSMUSG00000040270
AA Change: S479A
| 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: S602A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103815
Gene: ENSMUSG00000040270
AA Change: S602A
| 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: S602A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131592
Gene: ENSMUSG00000040270
AA Change: S602A
| 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 |
0.0858 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
97% (58/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad3a |
C |
T |
4: 155,831,766 (GRCm39) |
|
probably null |
Het |
| Ccl19 |
G |
T |
4: 42,756,295 (GRCm39) |
S12R |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,675,402 (GRCm39) |
|
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
| Cnot3 |
G |
A |
7: 3,656,257 (GRCm39) |
R181H |
probably damaging |
Het |
| Dicer1 |
T |
A |
12: 104,671,010 (GRCm39) |
K1011* |
probably null |
Het |
| Dip2b |
G |
A |
15: 100,055,139 (GRCm39) |
W99* |
probably null |
Het |
| Fpr-rs6 |
A |
T |
17: 20,403,168 (GRCm39) |
Y64* |
probably null |
Het |
| Fubp1 |
C |
A |
3: 151,928,573 (GRCm39) |
Y480* |
probably null |
Het |
| Gfra1 |
T |
C |
19: 58,227,682 (GRCm39) |
|
probably null |
Het |
| Gm10770 |
T |
C |
2: 150,020,831 (GRCm39) |
T229A |
probably benign |
Het |
| Gm826 |
A |
C |
2: 160,153,913 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,197,095 (GRCm39) |
V217I |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,488,494 (GRCm39) |
I3595T |
probably benign |
Het |
| Lmln |
A |
G |
16: 32,930,226 (GRCm39) |
E561G |
probably benign |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
T |
A |
7: 80,018,586 (GRCm39) |
Y91F |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,028,135 (GRCm39) |
T319A |
probably damaging |
Het |
| Mcm6 |
G |
T |
1: 128,271,196 (GRCm39) |
H474Q |
probably damaging |
Het |
| Mn1 |
C |
G |
5: 111,568,533 (GRCm39) |
N834K |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Niban3 |
T |
C |
8: 72,057,704 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,326,647 (GRCm39) |
D44G |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,324,789 (GRCm39) |
G1235R |
probably damaging |
Het |
| Olfml2a |
C |
T |
2: 38,850,306 (GRCm39) |
T674I |
probably benign |
Het |
| Or4f58 |
A |
G |
2: 111,852,112 (GRCm39) |
L29P |
possibly damaging |
Het |
| Pgap6 |
A |
G |
17: 26,336,837 (GRCm39) |
R252G |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,942,488 (GRCm39) |
A1779V |
probably benign |
Het |
| Ppil3 |
T |
A |
1: 58,470,481 (GRCm39) |
D123V |
probably damaging |
Het |
| Prr23a3 |
A |
G |
9: 98,747,190 (GRCm39) |
E48G |
probably damaging |
Het |
| Prr5l |
T |
C |
2: 101,577,094 (GRCm39) |
E110G |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,149,396 (GRCm39) |
T839M |
probably benign |
Het |
| Rasgrf2 |
G |
A |
13: 92,033,773 (GRCm39) |
Q544* |
probably null |
Het |
| Riok3 |
C |
A |
18: 12,281,936 (GRCm39) |
R302S |
probably damaging |
Het |
| Rnf145 |
A |
G |
11: 44,439,635 (GRCm39) |
K144E |
probably benign |
Het |
| Sin3b |
A |
C |
8: 73,480,209 (GRCm39) |
T904P |
probably damaging |
Het |
| Skint4 |
C |
T |
4: 111,977,066 (GRCm39) |
T152M |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,828,943 (GRCm39) |
I350V |
probably benign |
Het |
| Slc6a11 |
G |
T |
6: 114,108,323 (GRCm39) |
G29V |
probably benign |
Het |
| Speg |
A |
C |
1: 75,368,478 (GRCm39) |
H676P |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,648 (GRCm39) |
H227Q |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,680,404 (GRCm39) |
S399P |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,921,219 (GRCm39) |
M1264K |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,809,961 (GRCm39) |
L1119P |
possibly damaging |
Het |
| Upf2 |
A |
C |
2: 6,032,123 (GRCm39) |
T890P |
unknown |
Het |
| Upk1b |
T |
A |
16: 38,600,469 (GRCm39) |
K170N |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,886,485 (GRCm39) |
Y32F |
probably damaging |
Het |
| Vps11 |
A |
G |
9: 44,272,894 (GRCm39) |
F12S |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,741 (GRCm39) |
C1915S |
possibly damaging |
Het |
| Zfp346 |
A |
C |
13: 55,261,520 (GRCm39) |
R103S |
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 |
|
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'- CGTATTCCTACGCAGAGGAC -3'
(R):5'- GGTCACCTTTAACCTTGACACC -3'
Sequencing Primer
(F):5'- GCAGCCTCCCTCTCTGTGAG -3'
(R):5'- AATGCCTCCATGAGATCTGG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation