Incidental Mutation 'IGL00519:Gabpa'
ID3952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gabpa
Ensembl Gene ENSMUSG00000008976
Gene NameGA repeat binding protein, alpha
SynonymsGABPalpha
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00519
Quality Score
Status
Chromosome16
Chromosomal Location84834925-84863779 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to G at 84860601 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Glycine at position 455 (*455G)
Ref Sequence ENSEMBL: ENSMUSP00000109822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009120] [ENSMUST00000114184]
Predicted Effect probably null
Transcript: ENSMUST00000009120
AA Change: *455G
SMART Domains Protein: ENSMUSP00000009120
Gene: ENSMUSG00000008976
AA Change: *455G

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000114184
AA Change: *455G
SMART Domains Protein: ENSMUSP00000109822
Gene: ENSMUSG00000008976
AA Change: *455G

DomainStartEndE-ValueType
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: ENSMUST00000139101
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 43,569,525 N309K probably damaging Het
Asap1 G A 15: 64,110,942 P846S probably damaging Het
Atg10 A G 13: 91,154,211 probably benign Het
Cdk18 C A 1: 132,115,488 R433L probably benign Het
Celsr1 A G 15: 86,030,836 Y979H probably damaging Het
Cracr2b T C 7: 141,465,757 probably benign Het
Csmd2 T C 4: 128,483,473 F2049L probably benign Het
Cubn T C 2: 13,282,919 N3450D probably benign Het
Dmrt1 T C 19: 25,603,274 L350P probably damaging Het
Dnah5 A T 15: 28,444,218 D4054V probably benign Het
Dpp8 A T 9: 65,078,008 T783S probably damaging Het
Enpp3 T C 10: 24,787,772 T564A probably benign Het
Exoc6b T C 6: 84,989,453 K180E probably benign Het
Faf1 T A 4: 109,840,381 F301L probably benign Het
Fbxo7 A T 10: 86,029,064 E77V probably damaging Het
Hexim2 A T 11: 103,134,079 M1L probably benign Het
Lrrc24 T A 15: 76,718,063 N164I probably damaging Het
Lrrc8b G A 5: 105,481,725 A646T possibly damaging Het
Mansc1 T A 6: 134,610,806 Q136L possibly damaging Het
Mlxip T A 5: 123,447,205 V592E probably benign Het
Ncor2 T C 5: 125,084,924 T429A unknown Het
Tbcd A G 11: 121,575,321 N591S probably damaging Het
Tenm4 T C 7: 96,805,138 probably benign Het
Uri1 A G 7: 37,961,553 S522P probably damaging Het
Ush2a C T 1: 188,444,668 S1343L probably benign Het
Other mutations in Gabpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03075:Gabpa APN 16 84852607 missense possibly damaging 0.82
glacier_bay UTSW 16 84860409 missense possibly damaging 0.84
R0360:Gabpa UTSW 16 84857387 missense possibly damaging 0.84
R0364:Gabpa UTSW 16 84857387 missense possibly damaging 0.84
R1668:Gabpa UTSW 16 84846181 missense probably damaging 0.98
R2415:Gabpa UTSW 16 84844368 critical splice donor site probably null
R4867:Gabpa UTSW 16 84857468 missense probably benign 0.00
R5323:Gabpa UTSW 16 84857046 missense possibly damaging 0.84
R5404:Gabpa UTSW 16 84860463 missense probably damaging 1.00
R5504:Gabpa UTSW 16 84852558 missense probably benign
R5763:Gabpa UTSW 16 84860409 missense possibly damaging 0.84
R6853:Gabpa UTSW 16 84860499 missense probably damaging 0.99
R6897:Gabpa UTSW 16 84860473 missense probably benign
R7188:Gabpa UTSW 16 84846286 missense probably damaging 0.97
R7432:Gabpa UTSW 16 84857520 nonsense probably null
RF009:Gabpa UTSW 16 84844336 missense probably benign 0.40
X0023:Gabpa UTSW 16 84857529 missense probably damaging 0.99
Posted On2012-04-20