Incidental Mutation 'IGL00987:Gabpb2'
| ID |
27180 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabpb2
|
| Ensembl Gene |
ENSMUSG00000038766 |
| Gene Name |
GA repeat binding protein, beta 2 |
| Synonyms |
1810015F01Rik, 9430006E19Rik, Gabpb2-1, A430024B14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00987
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95089077-95125227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 95107502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 191
(V191G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098873]
[ENSMUST00000107204]
[ENSMUST00000107209]
[ENSMUST00000136139]
|
| AlphaFold |
P81069 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000070774
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098873
AA Change: V191G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096470
Gene: ENSMUSG00000038766
AA Change: V191G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
5 |
34 |
3e-10 |
BLAST |
|
ANK
|
37 |
66 |
3.41e-3 |
SMART |
|
ANK
|
70 |
99 |
1.18e-6 |
SMART |
|
ANK
|
103 |
132 |
3.76e-5 |
SMART |
|
ANK
|
136 |
165 |
1.1e2 |
SMART |
|
low complexity region
|
280 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
310 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107204
|
| SMART Domains |
Protein: ENSMUSP00000102822
Gene: ENSMUSG00000038766
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
5 |
34 |
5e-11 |
BLAST |
|
ANK
|
37 |
66 |
3.41e-3 |
SMART |
|
ANK
|
70 |
99 |
1.18e-6 |
SMART |
|
ANK
|
103 |
132 |
3.76e-5 |
SMART |
|
ANK
|
136 |
166 |
1.48e3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107209
AA Change: V191G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102827
Gene: ENSMUSG00000038766
AA Change: V191G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
5 |
34 |
3e-10 |
BLAST |
|
ANK
|
37 |
66 |
3.41e-3 |
SMART |
|
ANK
|
70 |
99 |
1.18e-6 |
SMART |
|
ANK
|
103 |
132 |
3.76e-5 |
SMART |
|
ANK
|
136 |
165 |
1.1e2 |
SMART |
|
low complexity region
|
280 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
310 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136139
AA Change: V191G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121283
Gene: ENSMUSG00000038766
AA Change: V191G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
5 |
34 |
3e-10 |
BLAST |
|
ANK
|
37 |
66 |
3.41e-3 |
SMART |
|
ANK
|
70 |
99 |
1.18e-6 |
SMART |
|
ANK
|
103 |
132 |
3.76e-5 |
SMART |
|
ANK
|
136 |
165 |
1.1e2 |
SMART |
|
low complexity region
|
280 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
310 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155555
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele are viable with normal T and B cell development but show increased B cell proliferation in response to B cell receptor stimulation, and moderately increased antibody production and germinal center responses when challenged with T-dependent antigens. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot9 |
T |
C |
X: 154,078,177 (GRCm39) |
I241T |
probably benign |
Het |
| Atp5mc3 |
T |
A |
2: 73,740,270 (GRCm39) |
R19* |
probably null |
Het |
| Celf4 |
T |
C |
18: 25,620,007 (GRCm39) |
D420G |
probably damaging |
Het |
| Cideb |
C |
A |
14: 55,992,017 (GRCm39) |
R179L |
possibly damaging |
Het |
| Cmtr1 |
G |
A |
17: 29,916,143 (GRCm39) |
R591H |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,169,130 (GRCm39) |
S34T |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,390,389 (GRCm39) |
Y80H |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,401 (GRCm39) |
E304G |
probably damaging |
Het |
| Fam135a |
A |
C |
1: 24,094,979 (GRCm39) |
L130V |
probably damaging |
Het |
| Fancb |
A |
T |
X: 163,774,594 (GRCm39) |
K410N |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,345,893 (GRCm39) |
H197R |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,365 (GRCm39) |
V105A |
unknown |
Het |
| Hectd3 |
T |
A |
4: 116,856,840 (GRCm39) |
D462E |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,315,334 (GRCm39) |
V1139L |
probably benign |
Het |
| Itgal |
T |
C |
7: 126,901,183 (GRCm39) |
F190L |
probably damaging |
Het |
| Krt87 |
G |
A |
15: 101,336,327 (GRCm39) |
H109Y |
probably benign |
Het |
| Lmf2 |
T |
C |
15: 89,238,771 (GRCm39) |
Y115C |
probably benign |
Het |
| Papolg |
T |
A |
11: 23,826,377 (GRCm39) |
Y259F |
possibly damaging |
Het |
| Parn |
T |
C |
16: 13,485,467 (GRCm39) |
I10V |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,102,989 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,583,465 (GRCm39) |
Q1003L |
possibly damaging |
Het |
| Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,701 (GRCm39) |
L317P |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,634,620 (GRCm39) |
|
probably benign |
Het |
| Prdm16 |
G |
A |
4: 154,426,426 (GRCm39) |
T453M |
possibly damaging |
Het |
| Rnf144b |
A |
T |
13: 47,360,969 (GRCm39) |
E36D |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,750,388 (GRCm39) |
T1961I |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,627,177 (GRCm39) |
K305I |
probably damaging |
Het |
| Tbc1d7 |
A |
T |
13: 43,312,797 (GRCm39) |
I32N |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,917,529 (GRCm39) |
F623L |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,541,016 (GRCm39) |
G297R |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,551,297 (GRCm39) |
|
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,649 (GRCm39) |
N151D |
probably damaging |
Het |
|
| Other mutations in Gabpb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02277:Gabpb2
|
APN |
3 |
95,096,595 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1724:Gabpb2
|
UTSW |
3 |
95,113,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Gabpb2
|
UTSW |
3 |
95,096,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4208:Gabpb2
|
UTSW |
3 |
95,111,245 (GRCm39) |
splice site |
probably benign |
|
|
R4656:Gabpb2
|
UTSW |
3 |
95,096,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Gabpb2
|
UTSW |
3 |
95,097,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7643:Gabpb2
|
UTSW |
3 |
95,107,536 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7848:Gabpb2
|
UTSW |
3 |
95,097,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8375:Gabpb2
|
UTSW |
3 |
95,112,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Gabpb2
|
UTSW |
3 |
95,111,998 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Gabpb2
|
UTSW |
3 |
95,098,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-04-17 |
Incidental Mutation