Incidental Mutation 'R0360:Gabpa'
ID65693
Institutional Source Beutler Lab
Gene Symbol Gabpa
Ensembl Gene ENSMUSG00000008976
Gene NameGA repeat binding protein, alpha
SynonymsGABPalpha
MMRRC Submission 038566-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0360 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location84834925-84863779 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 84857387 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 317 (N317K)
Ref Sequence ENSEMBL: ENSMUSP00000109822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009120] [ENSMUST00000114184]
Predicted Effect possibly damaging
Transcript: ENSMUST00000009120
AA Change: N317K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000009120
Gene: ENSMUSG00000008976
AA Change: N317K

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 possibly damaging
Transcript: ENSMUST00000114184
AA Change: N317K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109822
Gene: ENSMUSG00000008976
AA Change: N317K

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
Meta Mutation Damage Score 0.2644 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 98% (93/95)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,611,128 probably benign Het
Adcyap1r1 G T 6: 55,475,523 probably benign Het
Ankrd6 T C 4: 32,836,424 T44A probably damaging Het
Ano7 A G 1: 93,388,658 D221G probably benign Het
Bhlhe40 C A 6: 108,664,750 N218K probably damaging Het
Bms1 A G 6: 118,405,290 V429A probably benign Het
C7 T A 15: 4,988,962 T800S probably benign Het
Camta2 G A 11: 70,683,310 T127I probably damaging Het
Ccdc13 T A 9: 121,798,216 N665I probably damaging Het
Ccdc157 T C 11: 4,146,663 E362G probably damaging Het
Ccdc73 T A 2: 104,981,007 N310K probably damaging Het
Cmklr1 A T 5: 113,614,517 L141H probably damaging Het
Cnst C A 1: 179,579,535 A49E probably benign Het
Col5a3 C T 9: 20,772,466 R1498Q unknown Het
Crybb3 T A 5: 113,075,953 I197F probably damaging Het
Cryzl1 G A 16: 91,707,267 P97S probably benign Het
Cubn T C 2: 13,310,507 probably benign Het
Cyp2d37-ps T C 15: 82,690,052 noncoding transcript Het
Cyp4a12b C A 4: 115,432,920 N223K probably benign Het
D16Ertd472e A T 16: 78,547,885 C112S probably benign Het
Dennd2a T C 6: 39,508,299 T349A probably benign Het
Dock5 G A 14: 67,822,680 probably benign Het
Dpp6 T C 5: 27,652,269 L404P probably damaging Het
Dsc3 T A 18: 19,971,582 T563S possibly damaging Het
Dync2h1 T A 9: 7,113,182 E214D possibly damaging Het
Elac2 A G 11: 64,979,310 Y67C probably damaging Het
Elmo1 A T 13: 20,564,493 K503* probably null Het
Eng T C 2: 32,679,137 S559P probably benign Het
Epc2 T A 2: 49,537,133 V563E possibly damaging Het
Fancm A G 12: 65,075,950 Y82C probably damaging Het
Flt4 A T 11: 49,636,991 M924L probably benign Het
Gchfr T G 2: 119,167,846 Y3* probably null Het
Gli3 G T 13: 15,724,764 G912V probably benign Het
Gm10295 C A 7: 71,350,613 C73F unknown Het
Gm10382 G T 5: 125,389,664 probably benign Het
Gm6614 A C 6: 141,982,327 probably benign Het
Gp1ba T C 11: 70,640,458 probably benign Het
Gpr146 G A 5: 139,379,178 probably benign Het
Hexdc T A 11: 121,212,143 H62Q probably benign Het
Hgd T A 16: 37,611,184 probably benign Het
Hs6st1 G A 1: 36,069,185 probably null Het
Icam4 A G 9: 21,029,821 Y123C probably damaging Het
Il24 A G 1: 130,883,937 V134A probably damaging Het
Iqcb1 G T 16: 36,872,308 A562S probably damaging Het
Iqgap2 A C 13: 95,731,275 probably benign Het
Islr2 T C 9: 58,199,744 T78A possibly damaging Het
Kif1b A G 4: 149,262,729 I330T probably damaging Het
Kirrel T C 3: 87,089,799 Y287C probably damaging Het
Klf10 C T 15: 38,296,846 V317M probably benign Het
Klhl9 T G 4: 88,720,290 K571N probably benign Het
Lin37 T C 7: 30,557,013 I97V possibly damaging Het
Lrrc37a C T 11: 103,500,640 V1320I possibly damaging Het
Lrrc74a A G 12: 86,737,795 H99R probably damaging Het
Maats1 T A 16: 38,298,297 probably null Het
Me3 T A 7: 89,786,414 probably null Het
Med13 T C 11: 86,329,161 probably benign Het
Myh6 A T 14: 54,948,347 Y1490* probably null Het
Myo10 T C 15: 25,804,368 L1583P probably damaging Het
Nkx6-3 A G 8: 23,157,706 E227G possibly damaging Het
Nlrp1a T A 11: 71,114,004 probably benign Het
Nlrp5-ps A C 7: 14,583,091 noncoding transcript Het
Nup188 T G 2: 30,326,479 I765S probably null Het
Obscn G A 11: 59,128,281 A969V probably benign Het
Olfr1080 A T 2: 86,553,779 L115Q probably damaging Het
Olfr348 T A 2: 36,787,440 M305K probably benign Het
Olfr76 G T 19: 12,119,853 D286E possibly damaging Het
Olfr96 T C 17: 37,226,043 L306P possibly damaging Het
Otogl T A 10: 107,770,650 probably benign Het
Pcnx3 G A 19: 5,665,583 R1472W probably damaging Het
Plekha5 G A 6: 140,591,747 R646K possibly damaging Het
Plscr4 T A 9: 92,488,761 probably benign Het
Pon2 G A 6: 5,266,156 Q288* probably null Het
Ptpn13 C A 5: 103,533,348 R805S probably damaging Het
Pyroxd2 A T 19: 42,747,553 V62D probably damaging Het
Rab37 G T 11: 115,156,964 C44F probably damaging Het
Rbm44 T C 1: 91,152,347 S52P probably benign Het
Rgl3 A G 9: 21,976,857 W454R probably damaging Het
Rita1 A G 5: 120,609,772 S154P probably benign Het
Scn5a T C 9: 119,522,599 D772G probably damaging Het
Sec23ip G A 7: 128,761,405 probably benign Het
Slc23a1 T A 18: 35,622,979 probably benign Het
Sparcl1 T A 5: 104,089,637 D444V probably damaging Het
Taar6 C A 10: 23,985,148 V167L probably benign Het
Tmcc3 T A 10: 94,578,545 N36K probably benign Het
Tmem200c T A 17: 68,840,548 V42E probably damaging Het
Trhde T C 10: 114,502,982 probably benign Het
Tshz3 A G 7: 36,770,533 E649G probably benign Het
Utp4 T C 8: 106,898,537 probably benign Het
Vmn1r30 A G 6: 58,435,277 V190A probably benign Het
Vmn1r35 A G 6: 66,678,843 I281T probably damaging Het
Vmn1r58 G T 7: 5,410,330 H300Q probably benign Het
Vmn1r84 A G 7: 12,361,872 L286P probably damaging Het
Vmn2r54 A T 7: 12,615,649 C669S probably damaging Het
Wdr61 A T 9: 54,727,578 probably benign Het
Zfp623 T C 15: 75,948,661 S489P probably benign Het
Other mutations in Gabpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Gabpa APN 16 84860601 makesense probably null
IGL03075:Gabpa APN 16 84852607 missense possibly damaging 0.82
glacier_bay UTSW 16 84860409 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
Predicted Primers
Posted On2013-08-08