Incidental Mutation 'IGL03075:Gabpa'
| ID |
417652 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabpa
|
| Ensembl Gene |
ENSMUSG00000008976 |
| Gene Name |
GA repeat binding protein, alpha |
| Synonyms |
GABPalpha |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03075
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
84631813-84660667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84649495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 234
(V234D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009120]
[ENSMUST00000114184]
|
| AlphaFold |
Q00422 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009120
AA Change: V234D
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000009120
Gene: ENSMUSG00000008976
AA Change: V234D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GABP-alpha
|
34 |
122 |
1.6e-45 |
PFAM |
|
low complexity region
|
128 |
141 |
N/A |
INTRINSIC |
|
SAM_PNT
|
170 |
251 |
2.99e-40 |
SMART |
|
ETS
|
319 |
404 |
1.95e-56 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114184
AA Change: V234D
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109822
Gene: ENSMUSG00000008976
AA Change: V234D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GABP-alpha
|
36 |
119 |
4.9e-33 |
PFAM |
|
low complexity region
|
128 |
141 |
N/A |
INTRINSIC |
|
SAM_PNT
|
170 |
251 |
2.99e-40 |
SMART |
|
ETS
|
319 |
404 |
1.95e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148035
|
| 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 one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene die early in embryonic development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
G |
A |
13: 4,322,254 (GRCm39) |
R263C |
probably damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,223,012 (GRCm39) |
S217T |
probably damaging |
Het |
| Crtc3 |
G |
A |
7: 80,254,151 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
A |
T |
6: 76,931,713 (GRCm39) |
M642K |
probably benign |
Het |
| Ddx56 |
A |
T |
11: 6,211,632 (GRCm39) |
H491Q |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,939,040 (GRCm39) |
E208G |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,069,987 (GRCm39) |
|
probably benign |
Het |
| Gjb4 |
A |
G |
4: 127,245,386 (GRCm39) |
V185A |
possibly damaging |
Het |
| Hlcs |
C |
T |
16: 93,939,706 (GRCm39) |
A149T |
probably damaging |
Het |
| Il1f10 |
T |
A |
2: 24,183,188 (GRCm39) |
I44N |
possibly damaging |
Het |
| Itih4 |
A |
G |
14: 30,614,240 (GRCm39) |
I397V |
probably benign |
Het |
| Kat6b |
C |
T |
14: 21,711,638 (GRCm39) |
R820* |
probably null |
Het |
| Mmp17 |
T |
C |
5: 129,672,138 (GRCm39) |
L137P |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,071,662 (GRCm39) |
N493S |
probably benign |
Het |
| Myo9b |
A |
T |
8: 71,807,171 (GRCm39) |
Q1589L |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,298 (GRCm39) |
L285Q |
probably damaging |
Het |
| Or5ac20 |
T |
A |
16: 59,104,291 (GRCm39) |
T190S |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,127,417 (GRCm39) |
I834V |
probably benign |
Het |
| P2ry12 |
A |
T |
3: 59,125,579 (GRCm39) |
V32D |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,101,660 (GRCm39) |
V1052A |
probably damaging |
Het |
| Prss38 |
A |
C |
11: 59,263,881 (GRCm39) |
V277G |
probably damaging |
Het |
| Rell2 |
G |
T |
18: 38,090,734 (GRCm39) |
R137L |
probably damaging |
Het |
| Ro60 |
A |
C |
1: 143,646,509 (GRCm39) |
S79A |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Skint4 |
T |
C |
4: 111,944,239 (GRCm39) |
L17P |
probably damaging |
Het |
| Slco1a6 |
C |
T |
6: 142,048,875 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
T |
A |
1: 189,621,029 (GRCm39) |
I230F |
probably damaging |
Het |
| Sv2b |
G |
T |
7: 74,786,068 (GRCm39) |
H451N |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,961,997 (GRCm39) |
|
probably benign |
Het |
| Tmprss9 |
A |
G |
10: 80,719,863 (GRCm39) |
D144G |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,171,196 (GRCm39) |
Y247H |
probably damaging |
Het |
| Zc3h15 |
T |
C |
2: 83,492,535 (GRCm39) |
Y337H |
possibly damaging |
Het |
|
| Other mutations in Gabpa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Gabpa
|
APN |
16 |
84,657,489 (GRCm39) |
makesense |
probably null |
|
|
glacier_bay
|
UTSW |
16 |
84,657,297 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0360:Gabpa
|
UTSW |
16 |
84,654,275 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0364:Gabpa
|
UTSW |
16 |
84,654,275 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1668:Gabpa
|
UTSW |
16 |
84,643,069 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2415:Gabpa
|
UTSW |
16 |
84,641,256 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4867:Gabpa
|
UTSW |
16 |
84,654,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5323:Gabpa
|
UTSW |
16 |
84,653,934 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5404:Gabpa
|
UTSW |
16 |
84,657,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5504:Gabpa
|
UTSW |
16 |
84,649,446 (GRCm39) |
missense |
probably benign |
|
|
R5763:Gabpa
|
UTSW |
16 |
84,657,297 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6853:Gabpa
|
UTSW |
16 |
84,657,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6897:Gabpa
|
UTSW |
16 |
84,657,361 (GRCm39) |
missense |
probably benign |
|
|
R7188:Gabpa
|
UTSW |
16 |
84,643,174 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7432:Gabpa
|
UTSW |
16 |
84,654,408 (GRCm39) |
nonsense |
probably null |
|
|
R9011:Gabpa
|
UTSW |
16 |
84,638,209 (GRCm39) |
splice site |
probably benign |
|
|
R9258:Gabpa
|
UTSW |
16 |
84,653,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9509:Gabpa
|
UTSW |
16 |
84,649,395 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9616:Gabpa
|
UTSW |
16 |
84,649,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF009:Gabpa
|
UTSW |
16 |
84,641,224 (GRCm39) |
missense |
probably benign |
0.40 |
|
X0023:Gabpa
|
UTSW |
16 |
84,654,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation