Incidental Mutation 'R5402:Gmeb2'
ID 430029
Institutional Source Beutler Lab
Gene Symbol Gmeb2
Ensembl Gene ENSMUSG00000038705
Gene Name glucocorticoid modulatory element binding protein 2
Synonyms
MMRRC Submission 042973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R5402 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 180893242-180929828 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 180897750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049032] [ENSMUST00000130475] [ENSMUST00000130475] [ENSMUST00000141003] [ENSMUST00000141110]
AlphaFold P58929
Predicted Effect probably null
Transcript: ENSMUST00000049032
SMART Domains Protein: ENSMUSP00000037075
Gene: ENSMUSG00000038705

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
SAND 90 163 1.66e-42 SMART
coiled coil region 304 347 N/A INTRINSIC
low complexity region 414 426 N/A INTRINSIC
low complexity region 475 488 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123148
Predicted Effect probably null
Transcript: ENSMUST00000130475
SMART Domains Protein: ENSMUSP00000116479
Gene: ENSMUSG00000038705

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
SAND 90 163 1.66e-42 SMART
Predicted Effect probably null
Transcript: ENSMUST00000130475
SMART Domains Protein: ENSMUSP00000116479
Gene: ENSMUSG00000038705

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
SAND 90 163 1.66e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141003
SMART Domains Protein: ENSMUSP00000116854
Gene: ENSMUSG00000038705

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
Pfam:SAND 81 126 7.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141110
SMART Domains Protein: ENSMUSP00000115853
Gene: ENSMUSG00000038705

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,607,834 (GRCm39) D4079E probably benign Het
Bcar1 T C 8: 112,440,962 (GRCm39) D344G probably damaging Het
Car9 A G 4: 43,510,213 (GRCm39) N265S probably damaging Het
Ccr7 A G 11: 99,036,560 (GRCm39) S121P possibly damaging Het
Cgnl1 A G 9: 71,536,603 (GRCm39) L1278P probably damaging Het
Chst9 A T 18: 15,585,872 (GRCm39) S230R probably damaging Het
Cped1 G A 6: 22,143,951 (GRCm39) V566M probably benign Het
Csf2 A T 11: 54,138,489 (GRCm39) Y117* probably null Het
Cwf19l1 C T 19: 44,121,524 (GRCm39) probably null Het
Cyp2d34 C T 15: 82,503,287 (GRCm39) G69D probably damaging Het
Dync2h1 A T 9: 7,114,949 (GRCm39) V170E probably damaging Het
Ehbp1l1 T A 19: 5,766,348 (GRCm39) T388S possibly damaging Het
Etfa T C 9: 55,362,023 (GRCm39) I329M probably benign Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Fmnl2 G A 2: 53,018,794 (GRCm39) V1078I probably damaging Het
Fnip2 A G 3: 79,388,250 (GRCm39) L797P possibly damaging Het
Greb1l A G 18: 10,537,169 (GRCm39) T1045A probably benign Het
Hapln1 A G 13: 89,753,530 (GRCm39) N232S probably benign Het
Hibadh A T 6: 52,523,965 (GRCm39) M311K probably benign Het
Hus1 C T 11: 8,960,240 (GRCm39) probably null Het
Il31ra T C 13: 112,660,669 (GRCm39) E640G probably benign Het
L3mbtl4 T C 17: 68,762,769 (GRCm39) F101L probably damaging Het
Lbr A T 1: 181,647,526 (GRCm39) M417K probably benign Het
Lrig3 T G 10: 125,844,609 (GRCm39) L691R probably damaging Het
Mcm3ap T A 10: 76,319,148 (GRCm39) F792Y probably benign Het
Mst1 T C 9: 107,961,408 (GRCm39) probably null Het
Nova2 C A 7: 18,692,371 (GRCm39) T500K probably damaging Het
Nxph4 A T 10: 127,362,133 (GRCm39) C253S probably damaging Het
Or2t1 T C 14: 14,328,878 (GRCm38) Y256H probably damaging Het
Or4s2b T A 2: 88,508,492 (GRCm39) S98T possibly damaging Het
Pcdhga3 G A 18: 37,808,747 (GRCm39) R400Q probably benign Het
Pidd1 C A 7: 141,018,507 (GRCm39) A915S probably damaging Het
Plat T G 8: 23,262,738 (GRCm39) W148G probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Pramel27 G A 4: 143,578,225 (GRCm39) probably null Het
Ptdss1 A G 13: 67,081,663 (GRCm39) D31G possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Samd8 A G 14: 21,825,236 (GRCm39) D64G probably damaging Het
Scgb1b20 A G 7: 33,072,656 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc25a23 T C 17: 57,360,336 (GRCm39) I269V probably benign Het
Slc35f4 A T 14: 49,556,331 (GRCm39) S141T probably damaging Het
Srgap1 T C 10: 121,621,665 (GRCm39) M966V probably benign Het
Syne2 T A 12: 76,106,213 (GRCm39) V5526E probably damaging Het
Tcaf3 A G 6: 42,568,860 (GRCm39) S596P probably benign Het
Tg T A 15: 66,611,017 (GRCm39) I356N probably damaging Het
Ttc6 C T 12: 57,783,817 (GRCm39) R1759* probably null Het
Wdsub1 T C 2: 59,700,822 (GRCm39) N138D probably benign Het
Zfp1001 A G 2: 150,204,886 (GRCm39) I67V probably benign Het
Other mutations in Gmeb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Gmeb2 APN 2 180,900,836 (GRCm39) missense probably benign 0.18
IGL02882:Gmeb2 APN 2 180,907,676 (GRCm39) missense probably damaging 0.98
R0437:Gmeb2 UTSW 2 180,895,766 (GRCm39) missense possibly damaging 0.83
R1499:Gmeb2 UTSW 2 180,897,019 (GRCm39) missense probably benign 0.01
R2064:Gmeb2 UTSW 2 180,895,763 (GRCm39) missense probably benign 0.42
R2127:Gmeb2 UTSW 2 180,900,842 (GRCm39) missense probably benign 0.21
R2517:Gmeb2 UTSW 2 180,900,819 (GRCm39) missense probably benign 0.12
R3087:Gmeb2 UTSW 2 180,897,433 (GRCm39) splice site probably benign
R4202:Gmeb2 UTSW 2 180,895,766 (GRCm39) missense possibly damaging 0.83
R4470:Gmeb2 UTSW 2 180,906,938 (GRCm39) splice site probably null
R4936:Gmeb2 UTSW 2 180,896,039 (GRCm39) missense probably benign 0.04
R5296:Gmeb2 UTSW 2 180,897,779 (GRCm39) intron probably benign
R5708:Gmeb2 UTSW 2 180,906,782 (GRCm39) missense probably damaging 1.00
R5934:Gmeb2 UTSW 2 180,897,367 (GRCm39) missense possibly damaging 0.63
R7673:Gmeb2 UTSW 2 180,902,181 (GRCm39) missense probably benign 0.01
R8189:Gmeb2 UTSW 2 180,919,760 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTTGGATCCTAAACCCAGC -3'
(R):5'- AGCTGCTGAAGTTGAATGATAGC -3'

Sequencing Primer
(F):5'- GTTGGATCCTAAACCCAGCTAGGATC -3'
(R):5'- TGCTGAAGTTGAATGATAGCTCAGAG -3'
Posted On 2016-09-06