Incidental Mutation 'R0360:Gabpa'
ID 65693
Institutional Source Beutler Lab
Gene Symbol Gabpa
Ensembl Gene ENSMUSG00000008976
Gene Name GA repeat binding protein, alpha
Synonyms GABPalpha
MMRRC Submission 038566-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0360 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 84631813-84660667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84654275 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q00422
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: 28,310,553 (GRCm39) probably benign Het
Adcyap1r1 G T 6: 55,452,508 (GRCm39) probably benign Het
Ankrd6 T C 4: 32,836,424 (GRCm39) T44A probably damaging Het
Ano7 A G 1: 93,316,380 (GRCm39) D221G probably benign Het
Bhlhe40 C A 6: 108,641,711 (GRCm39) N218K probably damaging Het
Bms1 A G 6: 118,382,251 (GRCm39) V429A probably benign Het
C7 T A 15: 5,018,444 (GRCm39) T800S probably benign Het
Camta2 G A 11: 70,574,136 (GRCm39) T127I probably damaging Het
Ccdc13 T A 9: 121,627,282 (GRCm39) N665I probably damaging Het
Ccdc157 T C 11: 4,096,663 (GRCm39) E362G probably damaging Het
Ccdc73 T A 2: 104,811,352 (GRCm39) N310K probably damaging Het
Cfap91 T A 16: 38,118,659 (GRCm39) probably null Het
Cmklr1 A T 5: 113,752,578 (GRCm39) L141H probably damaging Het
Cnst C A 1: 179,407,100 (GRCm39) A49E probably benign Het
Col5a3 C T 9: 20,683,762 (GRCm39) R1498Q unknown Het
Crybb3 T A 5: 113,223,819 (GRCm39) I197F probably damaging Het
Cryzl1 G A 16: 91,504,155 (GRCm39) P97S probably benign Het
Cubn T C 2: 13,315,318 (GRCm39) probably benign Het
Cyp2d37-ps T C 15: 82,574,253 (GRCm39) noncoding transcript Het
Cyp4a12b C A 4: 115,290,117 (GRCm39) N223K probably benign Het
D16Ertd472e A T 16: 78,344,773 (GRCm39) C112S probably benign Het
Dennd2a T C 6: 39,485,233 (GRCm39) T349A probably benign Het
Dock5 G A 14: 68,060,129 (GRCm39) probably benign Het
Dpp6 T C 5: 27,857,267 (GRCm39) L404P probably damaging Het
Dsc3 T A 18: 20,104,639 (GRCm39) T563S possibly damaging Het
Dync2h1 T A 9: 7,113,182 (GRCm39) E214D possibly damaging Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elmo1 A T 13: 20,748,663 (GRCm39) K503* probably null Het
Eng T C 2: 32,569,149 (GRCm39) S559P probably benign Het
Epc2 T A 2: 49,427,145 (GRCm39) V563E possibly damaging Het
Fancm A G 12: 65,122,724 (GRCm39) Y82C probably damaging Het
Flt4 A T 11: 49,527,818 (GRCm39) M924L probably benign Het
Gchfr T G 2: 118,998,327 (GRCm39) Y3* probably null Het
Gli3 G T 13: 15,899,349 (GRCm39) G912V probably benign Het
Gm10295 C A 7: 71,000,361 (GRCm39) C73F unknown Het
Gm10382 G T 5: 125,466,728 (GRCm39) probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Gpr146 G A 5: 139,364,933 (GRCm39) probably benign Het
Hexd T A 11: 121,102,969 (GRCm39) H62Q probably benign Het
Hgd T A 16: 37,431,546 (GRCm39) probably benign Het
Hs6st1 G A 1: 36,108,266 (GRCm39) probably null Het
Icam4 A G 9: 20,941,117 (GRCm39) Y123C probably damaging Het
Il24 A G 1: 130,811,674 (GRCm39) V134A probably damaging Het
Iqcb1 G T 16: 36,692,670 (GRCm39) A562S probably damaging Het
Iqgap2 A C 13: 95,867,783 (GRCm39) probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Kif1b A G 4: 149,347,186 (GRCm39) I330T probably damaging Het
Kirrel1 T C 3: 86,997,106 (GRCm39) Y287C probably damaging Het
Klf10 C T 15: 38,297,090 (GRCm39) V317M probably benign Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Lin37 T C 7: 30,256,438 (GRCm39) I97V possibly damaging Het
Lrrc37a C T 11: 103,391,466 (GRCm39) V1320I possibly damaging Het
Lrrc74a A G 12: 86,784,569 (GRCm39) H99R probably damaging Het
Me3 T A 7: 89,435,622 (GRCm39) probably null Het
Med13 T C 11: 86,219,987 (GRCm39) probably benign Het
Myh6 A T 14: 55,185,804 (GRCm39) Y1490* probably null Het
Myo10 T C 15: 25,804,454 (GRCm39) L1583P probably damaging Het
Nkx6-3 A G 8: 23,647,722 (GRCm39) E227G possibly damaging Het
Nlrp1a T A 11: 71,004,830 (GRCm39) probably benign Het
Nlrp5-ps A C 7: 14,317,016 (GRCm39) noncoding transcript Het
Nup188 T G 2: 30,216,491 (GRCm39) I765S probably null Het
Obscn G A 11: 59,019,107 (GRCm39) A969V probably benign Het
Or11a4 T C 17: 37,536,934 (GRCm39) L306P possibly damaging Het
Or1j19 T A 2: 36,677,452 (GRCm39) M305K probably benign Het
Or5a1 G T 19: 12,097,217 (GRCm39) D286E possibly damaging Het
Or8k33 A T 2: 86,384,123 (GRCm39) L115Q probably damaging Het
Otogl T A 10: 107,606,511 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,715,611 (GRCm39) R1472W probably damaging Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plscr4 T A 9: 92,370,814 (GRCm39) probably benign Het
Pon2 G A 6: 5,266,156 (GRCm39) Q288* probably null Het
Ptpn13 C A 5: 103,681,214 (GRCm39) R805S probably damaging Het
Pyroxd2 A T 19: 42,735,992 (GRCm39) V62D probably damaging Het
Rab37 G T 11: 115,047,790 (GRCm39) C44F probably damaging Het
Rbm44 T C 1: 91,080,069 (GRCm39) S52P probably benign Het
Rgl3 A G 9: 21,888,153 (GRCm39) W454R probably damaging Het
Rita1 A G 5: 120,747,837 (GRCm39) S154P probably benign Het
Scn5a T C 9: 119,351,665 (GRCm39) D772G probably damaging Het
Sec23ip G A 7: 128,363,129 (GRCm39) probably benign Het
Skic8 A T 9: 54,634,862 (GRCm39) probably benign Het
Slc23a1 T A 18: 35,756,032 (GRCm39) probably benign Het
Slco1a8 A C 6: 141,928,053 (GRCm39) probably benign Het
Sparcl1 T A 5: 104,237,503 (GRCm39) D444V probably damaging Het
Taar6 C A 10: 23,861,046 (GRCm39) V167L probably benign Het
Tmcc3 T A 10: 94,414,407 (GRCm39) N36K probably benign Het
Tmem200c T A 17: 69,147,543 (GRCm39) V42E probably damaging Het
Trhde T C 10: 114,338,887 (GRCm39) probably benign Het
Tshz3 A G 7: 36,469,958 (GRCm39) E649G probably benign Het
Utp4 T C 8: 107,625,169 (GRCm39) probably benign Het
Vmn1r30 A G 6: 58,412,262 (GRCm39) V190A probably benign Het
Vmn1r35 A G 6: 66,655,827 (GRCm39) I281T probably damaging Het
Vmn1r58 G T 7: 5,413,329 (GRCm39) H300Q probably benign Het
Vmn1r84 A G 7: 12,095,799 (GRCm39) L286P probably damaging Het
Vmn2r54 A T 7: 12,349,576 (GRCm39) C669S probably damaging Het
Zfp623 T C 15: 75,820,510 (GRCm39) S489P probably benign Het
Other mutations in Gabpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Gabpa APN 16 84,657,489 (GRCm39) makesense probably null
IGL03075:Gabpa APN 16 84,649,495 (GRCm39) missense possibly damaging 0.82
glacier_bay UTSW 16 84,657,297 (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
Predicted Primers
Posted On 2013-08-08