Incidental Mutation 'IGL02085:Gabpb1'
ID |
283511 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02085
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
126469362-126518257 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 126481191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 319
(C319*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039978]
[ENSMUST00000103226]
[ENSMUST00000103227]
[ENSMUST00000110424]
[ENSMUST00000110425]
|
AlphaFold |
Q00420 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039978
AA Change: C318*
|
SMART Domains |
Protein: ENSMUSP00000037673 Gene: ENSMUSG00000027361 AA Change: C318*
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 |
probably null
Transcript: ENSMUST00000103226
AA Change: C319*
|
SMART Domains |
Protein: ENSMUSP00000099516 Gene: ENSMUSG00000027361 AA Change: C319*
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 |
probably null
Transcript: ENSMUST00000103227
AA Change: C318*
|
SMART Domains |
Protein: ENSMUSP00000099517 Gene: ENSMUSG00000027361 AA Change: C318*
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 null
Transcript: ENSMUST00000110424
AA Change: C318*
|
SMART Domains |
Protein: ENSMUSP00000106054 Gene: ENSMUSG00000027361 AA Change: C318*
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 null
Transcript: ENSMUST00000110425
AA Change: C319*
|
SMART Domains |
Protein: ENSMUSP00000106055 Gene: ENSMUSG00000027361 AA Change: C319*
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 |
noncoding transcript
Transcript: ENSMUST00000157575
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
A |
G |
9: 44,192,854 (GRCm39) |
|
probably null |
Het |
Akr1c14 |
T |
A |
13: 4,128,035 (GRCm39) |
C145* |
probably null |
Het |
Arhgef26 |
A |
G |
3: 62,367,145 (GRCm39) |
|
probably benign |
Het |
Asb9 |
A |
G |
X: 163,318,452 (GRCm39) |
M215V |
probably benign |
Het |
Atoh8 |
C |
A |
6: 72,212,157 (GRCm39) |
|
probably benign |
Het |
Atp6v1b1 |
T |
A |
6: 83,730,897 (GRCm39) |
|
probably benign |
Het |
Cep97 |
T |
C |
16: 55,735,868 (GRCm39) |
E310G |
probably damaging |
Het |
Ctrc |
C |
T |
4: 141,571,025 (GRCm39) |
D72N |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,349,011 (GRCm39) |
I2492T |
probably benign |
Het |
Emilin2 |
A |
G |
17: 71,582,144 (GRCm39) |
V194A |
probably damaging |
Het |
Epb41l5 |
T |
C |
1: 119,500,586 (GRCm39) |
T524A |
probably benign |
Het |
Fam91a1 |
A |
G |
15: 58,313,505 (GRCm39) |
N497S |
possibly damaging |
Het |
Galnt10 |
A |
G |
11: 57,673,104 (GRCm39) |
T487A |
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,981,961 (GRCm39) |
|
probably null |
Het |
Hmg20a |
C |
T |
9: 56,384,586 (GRCm39) |
Q119* |
probably null |
Het |
Ifi44l |
A |
G |
3: 151,468,477 (GRCm39) |
S18P |
unknown |
Het |
Immt |
T |
A |
6: 71,828,820 (GRCm39) |
V125E |
probably benign |
Het |
Ints13 |
T |
C |
6: 146,451,437 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,779,321 (GRCm39) |
G2574S |
probably benign |
Het |
Myoc |
T |
C |
1: 162,467,343 (GRCm39) |
C171R |
probably benign |
Het |
Ncbp1 |
C |
T |
4: 46,159,699 (GRCm39) |
T404M |
probably damaging |
Het |
Npy6r |
A |
G |
18: 44,408,998 (GRCm39) |
N140D |
probably damaging |
Het |
Nrxn2 |
A |
T |
19: 6,542,898 (GRCm39) |
M1041L |
possibly damaging |
Het |
Nsmaf |
G |
A |
4: 6,398,551 (GRCm39) |
P851L |
probably benign |
Het |
Nutm2 |
T |
A |
13: 50,627,829 (GRCm39) |
|
probably null |
Het |
Or10ak8 |
A |
G |
4: 118,773,947 (GRCm39) |
F239S |
probably damaging |
Het |
Or2g25 |
A |
G |
17: 37,970,579 (GRCm39) |
V215A |
probably benign |
Het |
Or4f61 |
A |
C |
2: 111,922,869 (GRCm39) |
M59R |
probably damaging |
Het |
Padi2 |
T |
G |
4: 140,654,468 (GRCm39) |
Y206* |
probably null |
Het |
Pcdh19 |
A |
T |
X: 132,582,007 (GRCm39) |
Y766* |
probably null |
Het |
Pde12 |
A |
G |
14: 26,387,619 (GRCm39) |
|
probably benign |
Het |
Ppl |
C |
T |
16: 4,907,680 (GRCm39) |
G872R |
probably benign |
Het |
Prkag3 |
C |
T |
1: 74,787,971 (GRCm39) |
|
probably benign |
Het |
Ptgfr |
T |
C |
3: 151,541,437 (GRCm39) |
T24A |
probably benign |
Het |
Rpe65 |
T |
C |
3: 159,321,283 (GRCm39) |
V365A |
probably benign |
Het |
Shank3 |
T |
C |
15: 89,388,118 (GRCm39) |
|
probably null |
Het |
Slco1a6 |
T |
C |
6: 142,032,200 (GRCm39) |
T642A |
probably benign |
Het |
Slco6d1 |
C |
A |
1: 98,371,468 (GRCm39) |
P275T |
probably damaging |
Het |
Smarca1 |
G |
T |
X: 46,964,109 (GRCm39) |
Q343K |
probably damaging |
Het |
Smoc2 |
A |
G |
17: 14,567,495 (GRCm39) |
T180A |
possibly damaging |
Het |
Tfrc |
G |
A |
16: 32,440,004 (GRCm39) |
V406I |
probably benign |
Het |
Tigit |
C |
T |
16: 43,469,473 (GRCm39) |
G206D |
probably benign |
Het |
Triobp |
G |
A |
15: 78,858,497 (GRCm39) |
|
probably benign |
Het |
Trmo |
T |
C |
4: 46,380,217 (GRCm39) |
Y384C |
probably damaging |
Het |
Vmn1r89 |
T |
A |
7: 12,953,465 (GRCm39) |
I67N |
probably damaging |
Het |
Wdr17 |
C |
A |
8: 55,140,771 (GRCm39) |
E194* |
probably null |
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 |
IGL02190:Gabpb1
|
APN |
2 |
126,495,469 (GRCm39) |
unclassified |
probably benign |
|
R0034:Gabpb1
|
UTSW |
2 |
126,500,454 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
|
Posted On |
2015-04-16 |