Incidental Mutation 'IGL02085:Gabpb1'
ID 283511
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02085
Quality Score
Status
Chromosome 2
Chromosomal Location 126469362-126518257 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 126481191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 319 (C319*)
Ref Sequence ENSEMBL: ENSMUSP00000106055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039978] [ENSMUST00000103226] [ENSMUST00000103227] [ENSMUST00000110424] [ENSMUST00000110425]
AlphaFold Q00420
Predicted Effect probably null
Transcript: ENSMUST00000039978
AA Change: C318*
SMART Domains Protein: ENSMUSP00000037673
Gene: ENSMUSG00000027361
AA Change: C318*

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 probably null
Transcript: ENSMUST00000103226
AA Change: C319*
SMART Domains Protein: ENSMUSP00000099516
Gene: ENSMUSG00000027361
AA Change: C319*

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 probably null
Transcript: ENSMUST00000103227
AA Change: C318*
SMART Domains Protein: ENSMUSP00000099517
Gene: ENSMUSG00000027361
AA Change: C318*

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 null
Transcript: ENSMUST00000110424
AA Change: C318*
SMART Domains Protein: ENSMUSP00000106054
Gene: ENSMUSG00000027361
AA Change: C318*

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 null
Transcript: ENSMUST00000110425
AA Change: C319*
SMART Domains Protein: ENSMUSP00000106055
Gene: ENSMUSG00000027361
AA Change: C319*

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 noncoding transcript
Transcript: ENSMUST00000157575
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,192,854 (GRCm39) probably null Het
Akr1c14 T A 13: 4,128,035 (GRCm39) C145* probably null Het
Arhgef26 A G 3: 62,367,145 (GRCm39) probably benign Het
Asb9 A G X: 163,318,452 (GRCm39) M215V probably benign Het
Atoh8 C A 6: 72,212,157 (GRCm39) probably benign Het
Atp6v1b1 T A 6: 83,730,897 (GRCm39) probably benign Het
Cep97 T C 16: 55,735,868 (GRCm39) E310G probably damaging Het
Ctrc C T 4: 141,571,025 (GRCm39) D72N possibly damaging Het
Dnah2 A G 11: 69,349,011 (GRCm39) I2492T probably benign Het
Emilin2 A G 17: 71,582,144 (GRCm39) V194A probably damaging Het
Epb41l5 T C 1: 119,500,586 (GRCm39) T524A probably benign Het
Fam91a1 A G 15: 58,313,505 (GRCm39) N497S possibly damaging Het
Galnt10 A G 11: 57,673,104 (GRCm39) T487A probably benign Het
Hecw2 T A 1: 53,981,961 (GRCm39) probably null Het
Hmg20a C T 9: 56,384,586 (GRCm39) Q119* probably null Het
Ifi44l A G 3: 151,468,477 (GRCm39) S18P unknown Het
Immt T A 6: 71,828,820 (GRCm39) V125E probably benign Het
Ints13 T C 6: 146,451,437 (GRCm39) probably benign Het
Lrp1b C T 2: 40,779,321 (GRCm39) G2574S probably benign Het
Myoc T C 1: 162,467,343 (GRCm39) C171R probably benign Het
Ncbp1 C T 4: 46,159,699 (GRCm39) T404M probably damaging Het
Npy6r A G 18: 44,408,998 (GRCm39) N140D probably damaging Het
Nrxn2 A T 19: 6,542,898 (GRCm39) M1041L possibly damaging Het
Nsmaf G A 4: 6,398,551 (GRCm39) P851L probably benign Het
Nutm2 T A 13: 50,627,829 (GRCm39) probably null Het
Or10ak8 A G 4: 118,773,947 (GRCm39) F239S probably damaging Het
Or2g25 A G 17: 37,970,579 (GRCm39) V215A probably benign Het
Or4f61 A C 2: 111,922,869 (GRCm39) M59R probably damaging Het
Padi2 T G 4: 140,654,468 (GRCm39) Y206* probably null Het
Pcdh19 A T X: 132,582,007 (GRCm39) Y766* probably null Het
Pde12 A G 14: 26,387,619 (GRCm39) probably benign Het
Ppl C T 16: 4,907,680 (GRCm39) G872R probably benign Het
Prkag3 C T 1: 74,787,971 (GRCm39) probably benign Het
Ptgfr T C 3: 151,541,437 (GRCm39) T24A probably benign Het
Rpe65 T C 3: 159,321,283 (GRCm39) V365A probably benign Het
Shank3 T C 15: 89,388,118 (GRCm39) probably null Het
Slco1a6 T C 6: 142,032,200 (GRCm39) T642A probably benign Het
Slco6d1 C A 1: 98,371,468 (GRCm39) P275T probably damaging Het
Smarca1 G T X: 46,964,109 (GRCm39) Q343K probably damaging Het
Smoc2 A G 17: 14,567,495 (GRCm39) T180A possibly damaging Het
Tfrc G A 16: 32,440,004 (GRCm39) V406I probably benign Het
Tigit C T 16: 43,469,473 (GRCm39) G206D probably benign Het
Triobp G A 15: 78,858,497 (GRCm39) probably benign Het
Trmo T C 4: 46,380,217 (GRCm39) Y384C probably damaging Het
Vmn1r89 T A 7: 12,953,465 (GRCm39) I67N probably damaging Het
Wdr17 C A 8: 55,140,771 (GRCm39) E194* probably null Het
Other mutations in Gabpb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Gabpb1 APN 2 126,495,520 (GRCm39) missense possibly damaging 0.83
IGL02190:Gabpb1 APN 2 126,495,469 (GRCm39) unclassified probably benign
R0034:Gabpb1 UTSW 2 126,500,454 (GRCm39) missense possibly damaging 0.94
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
Posted On 2015-04-16