Incidental Mutation 'IGL02369:Bach2'
ID |
290852 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bach2
|
Ensembl Gene |
ENSMUSG00000040270 |
Gene Name |
BTB and CNC homology, basic leucine zipper transcription factor 2 |
Synonyms |
E030004N02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02369
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
32238804-32586108 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32579975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 610
(I610M)
|
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: I610M
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043693 Gene: ENSMUSG00000040270 AA Change: I610M
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: I733M
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103815 Gene: ENSMUSG00000040270 AA Change: I733M
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: ENSMUST00000125263
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171600
AA Change: I733M
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000131592 Gene: ENSMUSG00000040270 AA Change: I733M
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
G |
T |
6: 39,551,678 (GRCm39) |
L148F |
probably damaging |
Het |
Arhgef10 |
G |
A |
8: 15,047,551 (GRCm39) |
R1138H |
probably damaging |
Het |
Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
Atp6v0b |
T |
A |
4: 117,742,850 (GRCm39) |
I79F |
possibly damaging |
Het |
Atp8b5 |
A |
T |
4: 43,334,205 (GRCm39) |
N324Y |
probably benign |
Het |
Casr |
G |
T |
16: 36,315,051 (GRCm39) |
D929E |
probably benign |
Het |
Cbln2 |
T |
C |
18: 86,731,479 (GRCm39) |
S96P |
probably damaging |
Het |
Cpxm1 |
T |
C |
2: 130,238,344 (GRCm39) |
K73E |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,814,645 (GRCm39) |
Y457C |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,535,000 (GRCm39) |
Y152H |
probably damaging |
Het |
Fbh1 |
A |
T |
2: 11,751,969 (GRCm39) |
S910T |
possibly damaging |
Het |
Gm10142 |
T |
C |
10: 77,551,947 (GRCm39) |
S103P |
probably benign |
Het |
Gm12886 |
A |
G |
4: 121,280,229 (GRCm39) |
S16P |
unknown |
Het |
Gpr146 |
T |
C |
5: 139,378,443 (GRCm39) |
Y82H |
probably benign |
Het |
Herc1 |
C |
T |
9: 66,399,293 (GRCm39) |
Q4282* |
probably null |
Het |
Htr2a |
A |
T |
14: 74,943,722 (GRCm39) |
E434V |
probably benign |
Het |
Iqsec3 |
T |
C |
6: 121,389,893 (GRCm39) |
|
probably benign |
Het |
Islr |
A |
C |
9: 58,064,907 (GRCm39) |
V200G |
probably damaging |
Het |
Katnal1 |
T |
C |
5: 148,815,737 (GRCm39) |
D400G |
probably benign |
Het |
Lonrf2 |
A |
G |
1: 38,850,913 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,294,980 (GRCm39) |
L3446Q |
probably damaging |
Het |
Med12l |
G |
A |
3: 59,164,794 (GRCm39) |
V1425I |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,251,100 (GRCm39) |
|
probably benign |
Het |
Nutm2 |
T |
G |
13: 50,623,944 (GRCm39) |
S214A |
probably benign |
Het |
Or10aa1 |
T |
A |
1: 173,869,539 (GRCm39) |
W8R |
possibly damaging |
Het |
Or2h1b |
A |
G |
17: 37,462,665 (GRCm39) |
F66S |
probably damaging |
Het |
Or5b99 |
T |
C |
19: 12,977,072 (GRCm39) |
S241P |
probably damaging |
Het |
Or6c33 |
C |
A |
10: 129,853,425 (GRCm39) |
A65E |
possibly damaging |
Het |
Pax5 |
A |
T |
4: 44,691,919 (GRCm39) |
M109K |
probably damaging |
Het |
Pfkfb2 |
G |
A |
1: 130,628,572 (GRCm39) |
R345W |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,342,977 (GRCm39) |
D105G |
unknown |
Het |
Prdm11 |
A |
G |
2: 92,805,864 (GRCm39) |
V362A |
probably benign |
Het |
Prex2 |
T |
C |
1: 11,171,393 (GRCm39) |
|
probably null |
Het |
Prl8a1 |
T |
C |
13: 27,760,924 (GRCm39) |
T103A |
possibly damaging |
Het |
Rgl1 |
T |
C |
1: 152,409,357 (GRCm39) |
I493V |
probably damaging |
Het |
Rimkla |
A |
G |
4: 119,335,146 (GRCm39) |
V79A |
possibly damaging |
Het |
Ryr2 |
A |
T |
13: 11,634,382 (GRCm39) |
S3791R |
possibly damaging |
Het |
Sh3rf2 |
C |
A |
18: 42,289,222 (GRCm39) |
S681* |
probably null |
Het |
Stmnd1 |
T |
A |
13: 46,439,029 (GRCm39) |
I87K |
probably benign |
Het |
Tspan8 |
C |
A |
10: 115,675,782 (GRCm39) |
F149L |
probably benign |
Het |
Tspan8 |
A |
C |
10: 115,675,783 (GRCm39) |
K150Q |
probably benign |
Het |
Ttn |
T |
C |
2: 76,772,720 (GRCm39) |
E2425G |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |