Incidental Mutation 'R5323:Gabpa'
ID 404994
Institutional Source Beutler Lab
Gene Symbol Gabpa
Ensembl Gene ENSMUSG00000008976
Gene Name GA repeat binding protein, alpha
Synonyms GABPalpha
MMRRC Submission 042906-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5323 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 84631813-84660667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84653934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 272 (I272N)
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: I272N

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000009120
Gene: ENSMUSG00000008976
AA Change: I272N

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: I272N

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109822
Gene: ENSMUSG00000008976
AA Change: I272N

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T A 7: 82,206,269 (GRCm39) C784S probably damaging Het
Ahnak2 A T 12: 112,745,989 (GRCm39) probably benign Het
Apon A G 10: 128,090,907 (GRCm39) E195G probably damaging Het
Atxn10 A G 15: 85,275,944 (GRCm39) I334V probably benign Het
Camsap1 G T 2: 25,855,823 (GRCm39) A145E probably damaging Het
Capns1 G T 7: 29,887,147 (GRCm39) F243L possibly damaging Het
Catsper2 A T 2: 121,237,216 (GRCm39) I228N probably damaging Het
Ceacam14 A T 7: 17,549,402 (GRCm39) *264C probably null Het
Cel A C 2: 28,450,530 (GRCm39) V165G probably damaging Het
Cldnd1 T A 16: 58,550,016 (GRCm39) D66E possibly damaging Het
Cntnap5b T A 1: 100,311,275 (GRCm39) C589* probably null Het
Dnah3 T A 7: 119,620,234 (GRCm39) H1554L probably damaging Het
Fbxw25 T A 9: 109,492,573 (GRCm39) M55L probably benign Het
Fn1 T C 1: 71,636,591 (GRCm39) H2187R probably benign Het
Fsip2 A G 2: 82,818,489 (GRCm39) T4741A possibly damaging Het
Ganab T C 19: 8,886,049 (GRCm39) S212P probably benign Het
Ggt1 A G 10: 75,421,495 (GRCm39) probably null Het
Hpgds T C 6: 65,109,169 (GRCm39) T81A probably benign Het
Insr G A 8: 3,252,902 (GRCm39) T419I probably benign Het
Itgb7 A G 15: 102,140,059 (GRCm39) probably benign Het
Kcnt1 A G 2: 25,799,289 (GRCm39) I951V possibly damaging Het
Lrrc4c T A 2: 97,460,498 (GRCm39) C375S probably damaging Het
Muc17 G T 5: 137,175,537 (GRCm39) C44* probably null Het
Mycbpap A T 11: 94,394,330 (GRCm39) D313E probably benign Het
Neo1 A G 9: 58,813,931 (GRCm39) probably null Het
Ntsr2 C T 12: 16,709,934 (GRCm39) S405F probably benign Het
Nup153 G A 13: 46,870,682 (GRCm39) P21S probably benign Het
Obscn T A 11: 58,887,703 (GRCm39) E7705D probably benign Het
Ogn A G 13: 49,762,817 (GRCm39) D53G probably benign Het
Or10d5j A T 9: 39,868,125 (GRCm39) Y35* probably null Het
Or14j10 A T 17: 37,935,046 (GRCm39) I160K probably benign Het
Or5k8 G A 16: 58,645,066 (GRCm39) T2I probably benign Het
Or5p5 T C 7: 107,413,883 (GRCm39) F33L possibly damaging Het
Or9i1b A T 19: 13,896,980 (GRCm39) I199F possibly damaging Het
Pde6a G A 18: 61,365,983 (GRCm39) R236H possibly damaging Het
Pigk T A 3: 152,443,837 (GRCm39) M85K probably damaging Het
Pirb A C 7: 3,719,598 (GRCm39) I516S possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Pum2 T A 12: 8,794,706 (GRCm39) I737N probably damaging Het
Recql5 A T 11: 115,818,215 (GRCm39) C159S probably damaging Het
Rxrg A G 1: 167,452,573 (GRCm39) N125S probably benign Het
Sgip1 C A 4: 102,823,477 (GRCm39) N699K probably damaging Het
Shprh G A 10: 11,046,041 (GRCm39) probably null Het
Smcp C T 3: 92,491,454 (GRCm39) G131D unknown Het
St8sia6 A G 2: 13,798,188 (GRCm39) L23P possibly damaging Het
Stk32c T A 7: 138,699,276 (GRCm39) T335S probably benign Het
Stox1 G A 10: 62,499,812 (GRCm39) A916V possibly damaging Het
Syk A T 13: 52,785,753 (GRCm39) T297S probably benign Het
Tert G T 13: 73,796,490 (GRCm39) A1074S probably benign Het
Tex9 A T 9: 72,385,187 (GRCm39) D135E probably damaging Het
Tmem132a G A 19: 10,841,371 (GRCm39) H318Y possibly damaging Het
Ttn A G 2: 76,738,249 (GRCm39) S4097P probably benign Het
Ush2a A T 1: 188,553,874 (GRCm39) probably null Het
Usp36 A T 11: 118,156,020 (GRCm39) S586T probably benign Het
Vsig8 A G 1: 172,388,244 (GRCm39) S71G probably benign Het
Zfp318 G A 17: 46,697,662 (GRCm39) D173N probably damaging Het
Zfp638 T A 6: 83,939,076 (GRCm39) S936T probably damaging Het
Zic2 A G 14: 122,713,728 (GRCm39) Y214C probably damaging 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
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
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 PCR Primer
(F):5'- GATGCTTGCAACTCGGTTTC -3'
(R):5'- CTGCCAGAGAACTAGTCCAACTTAG -3'

Sequencing Primer
(F):5'- CTGAGTAGCATGTCTAAAAATGCTGC -3'
(R):5'- CCGGTGAACTTCTGTCTT -3'
Posted On 2016-07-22