Incidental Mutation 'R0034:Gabpb1'
ID |
64572 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabpb1
|
Ensembl Gene |
ENSMUSG00000027361 |
Gene Name |
GA repeat binding protein, beta 1 |
Synonyms |
E4TF1-53, GABPB1-1, E4TF1-47, BABPB2, E4TF1, NRF2B1, E4Tf1B, GABPB1-2, NRF2B2 |
MMRRC Submission |
038328-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0034 (G1)
|
Quality Score |
95 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
126469362-126518257 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 126500454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 15
(R15Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039978]
[ENSMUST00000089745]
[ENSMUST00000103226]
[ENSMUST00000103227]
[ENSMUST00000110424]
[ENSMUST00000110425]
[ENSMUST00000124972]
[ENSMUST00000137335]
|
AlphaFold |
Q00420 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039978
AA Change: R15Q
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000037673 Gene: ENSMUSG00000027361 AA Change: R15Q
Domain | Start | End | E-Value | Type |
Blast:ANK
|
5 |
34 |
1e-8 |
BLAST |
ANK
|
37 |
66 |
3.36e-2 |
SMART |
ANK
|
70 |
99 |
9.7e-8 |
SMART |
ANK
|
103 |
132 |
1.76e-5 |
SMART |
ANK
|
136 |
166 |
3.58e2 |
SMART |
low complexity region
|
206 |
244 |
N/A |
INTRINSIC |
low complexity region
|
249 |
259 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089745
AA Change: R15Q
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000087177 Gene: ENSMUSG00000027361 AA Change: R15Q
Domain | Start | End | E-Value | Type |
Blast:ANK
|
5 |
34 |
4e-9 |
BLAST |
ANK
|
37 |
66 |
3.36e-2 |
SMART |
ANK
|
70 |
99 |
9.7e-8 |
SMART |
ANK
|
103 |
132 |
1.76e-5 |
SMART |
ANK
|
136 |
166 |
3.58e2 |
SMART |
low complexity region
|
206 |
230 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103226
AA Change: R15Q
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099516 Gene: ENSMUSG00000027361 AA Change: R15Q
Domain | Start | End | E-Value | Type |
Blast:ANK
|
5 |
34 |
1e-8 |
BLAST |
ANK
|
37 |
66 |
3.36e-2 |
SMART |
ANK
|
70 |
99 |
9.7e-8 |
SMART |
ANK
|
103 |
132 |
1.76e-5 |
SMART |
ANK
|
136 |
166 |
3.58e2 |
SMART |
low complexity region
|
206 |
245 |
N/A |
INTRINSIC |
low complexity region
|
250 |
260 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103227
AA Change: R15Q
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099517 Gene: ENSMUSG00000027361 AA Change: R15Q
Domain | Start | End | E-Value | Type |
Blast:ANK
|
5 |
34 |
3e-8 |
BLAST |
ANK
|
37 |
66 |
3.36e-2 |
SMART |
ANK
|
70 |
99 |
9.7e-8 |
SMART |
ANK
|
103 |
132 |
1.76e-5 |
SMART |
ANK
|
136 |
166 |
3.58e2 |
SMART |
low complexity region
|
206 |
244 |
N/A |
INTRINSIC |
low complexity region
|
249 |
259 |
N/A |
INTRINSIC |
coiled coil region
|
328 |
381 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110424
AA Change: R15Q
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000106054 Gene: ENSMUSG00000027361 AA Change: R15Q
Domain | Start | End | E-Value | Type |
Blast:ANK
|
5 |
34 |
3e-8 |
BLAST |
ANK
|
37 |
66 |
3.36e-2 |
SMART |
ANK
|
70 |
99 |
9.7e-8 |
SMART |
ANK
|
103 |
132 |
1.76e-5 |
SMART |
ANK
|
136 |
166 |
3.58e2 |
SMART |
low complexity region
|
206 |
244 |
N/A |
INTRINSIC |
low complexity region
|
249 |
259 |
N/A |
INTRINSIC |
coiled coil region
|
328 |
381 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110425
AA Change: R15Q
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106055 Gene: ENSMUSG00000027361 AA Change: R15Q
Domain | Start | End | E-Value | Type |
Blast:ANK
|
5 |
34 |
3e-8 |
BLAST |
ANK
|
37 |
66 |
3.36e-2 |
SMART |
ANK
|
70 |
99 |
9.7e-8 |
SMART |
ANK
|
103 |
132 |
1.76e-5 |
SMART |
ANK
|
136 |
166 |
3.58e2 |
SMART |
low complexity region
|
206 |
245 |
N/A |
INTRINSIC |
low complexity region
|
250 |
260 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
382 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124972
AA Change: R15Q
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117355 Gene: ENSMUSG00000027361 AA Change: R15Q
Domain | Start | End | E-Value | Type |
Blast:ANK
|
5 |
34 |
1e-10 |
BLAST |
ANK
|
37 |
66 |
3.36e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137335
AA Change: R15Q
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130263
|
Meta Mutation Damage Score |
0.1640 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
Validation Efficiency |
98% (64/65) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality by E12.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430038I01Rik |
C |
T |
7: 136,989,321 (GRCm39) |
R60Q |
probably benign |
Het |
Angpt4 |
C |
T |
2: 151,771,311 (GRCm39) |
T209I |
probably benign |
Het |
Ap3b1 |
T |
C |
13: 94,616,393 (GRCm39) |
|
probably benign |
Het |
Aplp1 |
A |
C |
7: 30,143,867 (GRCm39) |
V56G |
probably damaging |
Het |
Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
Atxn7 |
A |
T |
14: 14,100,846 (GRCm38) |
H844L |
probably damaging |
Het |
Cd14 |
A |
G |
18: 36,859,288 (GRCm39) |
Y56H |
probably benign |
Het |
Cd300lb |
C |
T |
11: 114,819,225 (GRCm39) |
V135I |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
Cfap74 |
C |
T |
4: 155,545,344 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
A |
6: 8,175,708 (GRCm39) |
I47L |
probably benign |
Het |
Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
Eef1d |
T |
C |
15: 75,774,808 (GRCm39) |
T200A |
probably benign |
Het |
Exoc1l |
A |
G |
5: 76,664,377 (GRCm39) |
I155M |
probably damaging |
Het |
Faap100 |
A |
T |
11: 120,262,973 (GRCm39) |
M795K |
probably benign |
Het |
Gata4 |
C |
A |
14: 63,438,933 (GRCm39) |
M381I |
probably benign |
Het |
Gm5114 |
A |
G |
7: 39,058,282 (GRCm39) |
S446P |
possibly damaging |
Het |
Gnb1 |
T |
A |
4: 155,636,146 (GRCm39) |
N155K |
probably benign |
Het |
Haspin |
G |
A |
11: 73,029,044 (GRCm39) |
T15M |
probably damaging |
Het |
Heatr5a |
A |
G |
12: 51,971,955 (GRCm39) |
L745P |
probably damaging |
Het |
Kcng3 |
T |
A |
17: 83,895,812 (GRCm39) |
|
probably benign |
Het |
Kif15 |
A |
T |
9: 122,828,350 (GRCm39) |
N887I |
possibly damaging |
Het |
Kif26a |
T |
C |
12: 112,135,397 (GRCm39) |
|
probably benign |
Het |
Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
Kifc2 |
G |
T |
15: 76,551,300 (GRCm39) |
C613F |
probably benign |
Het |
Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
Lrp1 |
A |
T |
10: 127,381,520 (GRCm39) |
I3826N |
probably benign |
Het |
Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
Myo7b |
A |
G |
18: 32,093,913 (GRCm39) |
S2006P |
probably damaging |
Het |
Or51m1 |
T |
C |
7: 103,578,708 (GRCm39) |
V226A |
probably benign |
Het |
Pax4 |
T |
C |
6: 28,442,448 (GRCm39) |
T285A |
probably benign |
Het |
Pcdhb5 |
A |
G |
18: 37,455,137 (GRCm39) |
N506D |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,367,405 (GRCm39) |
G768S |
probably benign |
Het |
Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
Poteg |
A |
G |
8: 27,952,105 (GRCm39) |
|
probably benign |
Het |
Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
Rhobtb2 |
T |
C |
14: 70,026,137 (GRCm39) |
T602A |
probably benign |
Het |
Samd3 |
G |
A |
10: 26,147,398 (GRCm39) |
|
probably benign |
Het |
Sbno2 |
A |
C |
10: 79,894,174 (GRCm39) |
|
probably benign |
Het |
Sec1 |
A |
G |
7: 45,328,759 (GRCm39) |
V96A |
probably benign |
Het |
Senp7 |
A |
C |
16: 55,973,933 (GRCm39) |
S385R |
possibly damaging |
Het |
Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
Sgpl1 |
A |
T |
10: 60,938,392 (GRCm39) |
M467K |
probably damaging |
Het |
Slc22a26 |
A |
G |
19: 7,779,618 (GRCm39) |
I66T |
probably benign |
Het |
Stra6 |
G |
A |
9: 58,058,752 (GRCm39) |
|
probably null |
Het |
Tfrc |
T |
A |
16: 32,434,214 (GRCm39) |
|
probably null |
Het |
Tmem30b |
T |
C |
12: 73,592,779 (GRCm39) |
Y112C |
probably damaging |
Het |
Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
Trpc1 |
A |
G |
9: 95,631,814 (GRCm39) |
S43P |
probably damaging |
Het |
Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
Uroc1 |
T |
C |
6: 90,322,292 (GRCm39) |
V272A |
probably damaging |
Het |
Vmn1r69 |
T |
A |
7: 10,314,738 (GRCm39) |
|
probably benign |
Het |
Vmn2r1 |
T |
A |
3: 63,997,435 (GRCm39) |
W364R |
probably damaging |
Het |
Wnk2 |
G |
T |
13: 49,221,556 (GRCm39) |
T377K |
possibly damaging |
Het |
Zfta |
C |
A |
19: 7,397,724 (GRCm39) |
H90Q |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
probably damaging |
Het |
|
Other mutations in Gabpb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01615:Gabpb1
|
APN |
2 |
126,495,520 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02085:Gabpb1
|
APN |
2 |
126,481,191 (GRCm39) |
nonsense |
probably null |
|
IGL02190:Gabpb1
|
APN |
2 |
126,495,469 (GRCm39) |
unclassified |
probably benign |
|
R0114:Gabpb1
|
UTSW |
2 |
126,495,494 (GRCm39) |
missense |
probably damaging |
0.98 |
R0800:Gabpb1
|
UTSW |
2 |
126,472,248 (GRCm39) |
missense |
probably damaging |
0.99 |
R0925:Gabpb1
|
UTSW |
2 |
126,494,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Gabpb1
|
UTSW |
2 |
126,494,247 (GRCm39) |
missense |
probably damaging |
0.99 |
R1467:Gabpb1
|
UTSW |
2 |
126,494,247 (GRCm39) |
missense |
probably damaging |
0.99 |
R1497:Gabpb1
|
UTSW |
2 |
126,481,169 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1569:Gabpb1
|
UTSW |
2 |
126,494,171 (GRCm39) |
missense |
probably benign |
0.09 |
R2860:Gabpb1
|
UTSW |
2 |
126,495,494 (GRCm39) |
missense |
probably damaging |
0.98 |
R2861:Gabpb1
|
UTSW |
2 |
126,495,494 (GRCm39) |
missense |
probably damaging |
0.98 |
R5284:Gabpb1
|
UTSW |
2 |
126,494,277 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5984:Gabpb1
|
UTSW |
2 |
126,488,573 (GRCm39) |
missense |
probably damaging |
0.99 |
R7200:Gabpb1
|
UTSW |
2 |
126,481,222 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7781:Gabpb1
|
UTSW |
2 |
126,481,120 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8525:Gabpb1
|
UTSW |
2 |
126,494,194 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8730:Gabpb1
|
UTSW |
2 |
126,492,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9709:Gabpb1
|
UTSW |
2 |
126,500,488 (GRCm39) |
missense |
probably benign |
0.33 |
R9723:Gabpb1
|
UTSW |
2 |
126,488,648 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTTACTACACAGATCTCCCTGCCTC -3'
(R):5'- GACTCACAGTACCTGACTCCTTACCTT -3'
Sequencing Primer
(F):5'- tcacagccatccgtaacaag -3'
(R):5'- TTAAACCAACTTTGCTCAGGC -3'
|
Posted On |
2013-08-06 |