Incidental Mutation 'R0034:Gabpb1'
ID 64572
Institutional Source Beutler Lab
Gene Symbol Gabpb1
Ensembl Gene ENSMUSG00000027361
Gene Name GA repeat binding protein, beta 1
Synonyms E4TF1-53, GABPB1-1, E4TF1-47, BABPB2, E4TF1, NRF2B1, E4Tf1B, GABPB1-2, NRF2B2
MMRRC Submission 038328-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0034 (G1)
Quality Score 95
Status Validated
Chromosome 2
Chromosomal Location 126469362-126518257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126500454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 15 (R15Q)
Ref Sequence ENSEMBL: ENSMUSP00000106055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039978] [ENSMUST00000089745] [ENSMUST00000103226] [ENSMUST00000103227] [ENSMUST00000110424] [ENSMUST00000110425] [ENSMUST00000124972] [ENSMUST00000137335]
AlphaFold Q00420
Predicted Effect possibly damaging
Transcript: ENSMUST00000039978
AA Change: R15Q

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037673
Gene: ENSMUSG00000027361
AA Change: R15Q

DomainStartEndE-ValueType
Blast:ANK 5 34 1e-8 BLAST
ANK 37 66 3.36e-2 SMART
ANK 70 99 9.7e-8 SMART
ANK 103 132 1.76e-5 SMART
ANK 136 166 3.58e2 SMART
low complexity region 206 244 N/A INTRINSIC
low complexity region 249 259 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000089745
AA Change: R15Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087177
Gene: ENSMUSG00000027361
AA Change: R15Q

DomainStartEndE-ValueType
Blast:ANK 5 34 4e-9 BLAST
ANK 37 66 3.36e-2 SMART
ANK 70 99 9.7e-8 SMART
ANK 103 132 1.76e-5 SMART
ANK 136 166 3.58e2 SMART
low complexity region 206 230 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000103226
AA Change: R15Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099516
Gene: ENSMUSG00000027361
AA Change: R15Q

DomainStartEndE-ValueType
Blast:ANK 5 34 1e-8 BLAST
ANK 37 66 3.36e-2 SMART
ANK 70 99 9.7e-8 SMART
ANK 103 132 1.76e-5 SMART
ANK 136 166 3.58e2 SMART
low complexity region 206 245 N/A INTRINSIC
low complexity region 250 260 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000103227
AA Change: R15Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099517
Gene: ENSMUSG00000027361
AA Change: R15Q

DomainStartEndE-ValueType
Blast:ANK 5 34 3e-8 BLAST
ANK 37 66 3.36e-2 SMART
ANK 70 99 9.7e-8 SMART
ANK 103 132 1.76e-5 SMART
ANK 136 166 3.58e2 SMART
low complexity region 206 244 N/A INTRINSIC
low complexity region 249 259 N/A INTRINSIC
coiled coil region 328 381 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110424
AA Change: R15Q

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106054
Gene: ENSMUSG00000027361
AA Change: R15Q

DomainStartEndE-ValueType
Blast:ANK 5 34 3e-8 BLAST
ANK 37 66 3.36e-2 SMART
ANK 70 99 9.7e-8 SMART
ANK 103 132 1.76e-5 SMART
ANK 136 166 3.58e2 SMART
low complexity region 206 244 N/A INTRINSIC
low complexity region 249 259 N/A INTRINSIC
coiled coil region 328 381 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110425
AA Change: R15Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106055
Gene: ENSMUSG00000027361
AA Change: R15Q

DomainStartEndE-ValueType
Blast:ANK 5 34 3e-8 BLAST
ANK 37 66 3.36e-2 SMART
ANK 70 99 9.7e-8 SMART
ANK 103 132 1.76e-5 SMART
ANK 136 166 3.58e2 SMART
low complexity region 206 245 N/A INTRINSIC
low complexity region 250 260 N/A INTRINSIC
coiled coil region 329 382 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000124972
AA Change: R15Q

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117355
Gene: ENSMUSG00000027361
AA Change: R15Q

DomainStartEndE-ValueType
Blast:ANK 5 34 1e-10 BLAST
ANK 37 66 3.36e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000137335
AA Change: R15Q

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130263
Meta Mutation Damage Score 0.1640 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 98% (64/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality by E12.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik C T 7: 136,989,321 (GRCm39) R60Q probably benign Het
Angpt4 C T 2: 151,771,311 (GRCm39) T209I probably benign Het
Ap3b1 T C 13: 94,616,393 (GRCm39) probably benign Het
Aplp1 A C 7: 30,143,867 (GRCm39) V56G probably damaging Het
Asns G A 6: 7,676,299 (GRCm39) P419L probably damaging Het
Atxn7 A T 14: 14,100,846 (GRCm38) H844L probably damaging Het
Cd14 A G 18: 36,859,288 (GRCm39) Y56H probably benign Het
Cd300lb C T 11: 114,819,225 (GRCm39) V135I probably damaging Het
Cep152 C T 2: 125,425,813 (GRCm39) A851T probably benign Het
Cfap74 C T 4: 155,545,344 (GRCm39) probably benign Het
Col28a1 T A 6: 8,175,708 (GRCm39) I47L probably benign Het
Dnaaf9 T C 2: 130,578,492 (GRCm39) H664R probably damaging Het
Eef1d T C 15: 75,774,808 (GRCm39) T200A probably benign Het
Exoc1l A G 5: 76,664,377 (GRCm39) I155M probably damaging Het
Faap100 A T 11: 120,262,973 (GRCm39) M795K probably benign Het
Gata4 C A 14: 63,438,933 (GRCm39) M381I probably benign Het
Gm5114 A G 7: 39,058,282 (GRCm39) S446P possibly damaging Het
Gnb1 T A 4: 155,636,146 (GRCm39) N155K probably benign Het
Haspin G A 11: 73,029,044 (GRCm39) T15M probably damaging Het
Heatr5a A G 12: 51,971,955 (GRCm39) L745P probably damaging Het
Kcng3 T A 17: 83,895,812 (GRCm39) probably benign Het
Kif15 A T 9: 122,828,350 (GRCm39) N887I possibly damaging Het
Kif26a T C 12: 112,135,397 (GRCm39) probably benign Het
Kif9 G A 9: 110,348,679 (GRCm39) C738Y probably benign Het
Kifc2 G T 15: 76,551,300 (GRCm39) C613F probably benign Het
Klf12 A G 14: 100,224,865 (GRCm39) probably null Het
Lrp1 A T 10: 127,381,520 (GRCm39) I3826N probably benign Het
Map2k4 A G 11: 65,610,437 (GRCm39) probably benign Het
Myo7b A G 18: 32,093,913 (GRCm39) S2006P probably damaging Het
Or51m1 T C 7: 103,578,708 (GRCm39) V226A probably benign Het
Pax4 T C 6: 28,442,448 (GRCm39) T285A probably benign Het
Pcdhb5 A G 18: 37,455,137 (GRCm39) N506D probably damaging Het
Pkhd1l1 G A 15: 44,367,405 (GRCm39) G768S probably benign Het
Plb1 G T 5: 32,430,457 (GRCm39) G138V probably benign Het
Poln A C 5: 34,272,762 (GRCm39) V398G possibly damaging Het
Poteg A G 8: 27,952,105 (GRCm39) probably benign Het
Rapgef1 C A 2: 29,614,780 (GRCm39) probably benign Het
Rbm43 A T 2: 51,815,722 (GRCm39) D166E probably benign Het
Rhobtb2 T C 14: 70,026,137 (GRCm39) T602A probably benign Het
Samd3 G A 10: 26,147,398 (GRCm39) probably benign Het
Sbno2 A C 10: 79,894,174 (GRCm39) probably benign Het
Sec1 A G 7: 45,328,759 (GRCm39) V96A probably benign Het
Senp7 A C 16: 55,973,933 (GRCm39) S385R possibly damaging Het
Sgk3 T C 1: 9,955,902 (GRCm39) V301A probably damaging Het
Sgpl1 A T 10: 60,938,392 (GRCm39) M467K probably damaging Het
Slc22a26 A G 19: 7,779,618 (GRCm39) I66T probably benign Het
Stra6 G A 9: 58,058,752 (GRCm39) probably null Het
Tfrc T A 16: 32,434,214 (GRCm39) probably null Het
Tmem30b T C 12: 73,592,779 (GRCm39) Y112C probably damaging Het
Trap1 A T 16: 3,886,894 (GRCm39) probably benign Het
Trpc1 A G 9: 95,631,814 (GRCm39) S43P probably damaging Het
Tsku T C 7: 98,001,870 (GRCm39) T154A possibly damaging Het
Uroc1 T C 6: 90,322,292 (GRCm39) V272A probably damaging Het
Vmn1r69 T A 7: 10,314,738 (GRCm39) probably benign Het
Vmn2r1 T A 3: 63,997,435 (GRCm39) W364R probably damaging Het
Wnk2 G T 13: 49,221,556 (GRCm39) T377K possibly damaging Het
Zfta C A 19: 7,397,724 (GRCm39) H90Q probably damaging Het
Zscan20 T C 4: 128,479,455 (GRCm39) N1012S probably damaging Het
Other mutations in Gabpb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Gabpb1 APN 2 126,495,520 (GRCm39) missense possibly damaging 0.83
IGL02085:Gabpb1 APN 2 126,481,191 (GRCm39) nonsense probably null
IGL02190:Gabpb1 APN 2 126,495,469 (GRCm39) unclassified probably benign
R0114:Gabpb1 UTSW 2 126,495,494 (GRCm39) missense probably damaging 0.98
R0800:Gabpb1 UTSW 2 126,472,248 (GRCm39) missense probably damaging 0.99
R0925:Gabpb1 UTSW 2 126,494,185 (GRCm39) missense probably damaging 1.00
R1467:Gabpb1 UTSW 2 126,494,247 (GRCm39) missense probably damaging 0.99
R1467:Gabpb1 UTSW 2 126,494,247 (GRCm39) missense probably damaging 0.99
R1497:Gabpb1 UTSW 2 126,481,169 (GRCm39) missense possibly damaging 0.96
R1569:Gabpb1 UTSW 2 126,494,171 (GRCm39) missense probably benign 0.09
R2860:Gabpb1 UTSW 2 126,495,494 (GRCm39) missense probably damaging 0.98
R2861:Gabpb1 UTSW 2 126,495,494 (GRCm39) missense probably damaging 0.98
R5284:Gabpb1 UTSW 2 126,494,277 (GRCm39) missense possibly damaging 0.93
R5984:Gabpb1 UTSW 2 126,488,573 (GRCm39) missense probably damaging 0.99
R7200:Gabpb1 UTSW 2 126,481,222 (GRCm39) missense possibly damaging 0.73
R7781:Gabpb1 UTSW 2 126,481,120 (GRCm39) missense possibly damaging 0.84
R8525:Gabpb1 UTSW 2 126,494,194 (GRCm39) missense possibly damaging 0.90
R8730:Gabpb1 UTSW 2 126,492,484 (GRCm39) missense possibly damaging 0.95
R9709:Gabpb1 UTSW 2 126,500,488 (GRCm39) missense probably benign 0.33
R9723:Gabpb1 UTSW 2 126,488,648 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- AGTTTACTACACAGATCTCCCTGCCTC -3'
(R):5'- GACTCACAGTACCTGACTCCTTACCTT -3'

Sequencing Primer
(F):5'- tcacagccatccgtaacaag -3'
(R):5'- TTAAACCAACTTTGCTCAGGC -3'
Posted On 2013-08-06