Incidental Mutation 'IGL00978:Gmeb2'
ID27021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmeb2
Ensembl Gene ENSMUSG00000038705
Gene Nameglucocorticoid modulatory element binding protein 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock #IGL00978
Quality Score
Status
Chromosome2
Chromosomal Location181251449-181288035 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 181259043 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 187 (V187E)
Ref Sequence ENSEMBL: ENSMUSP00000037075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049032] [ENSMUST00000130475] [ENSMUST00000141003] [ENSMUST00000141110]
Predicted Effect probably benign
Transcript: ENSMUST00000049032
AA Change: V187E

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000037075
Gene: ENSMUSG00000038705
AA Change: V187E

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 benign
Transcript: ENSMUST00000130475
AA Change: V187E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000116479
Gene: ENSMUSG00000038705
AA Change: V187E

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009L18Rik T C 11: 120,350,947 probably benign Het
Alpk2 A T 18: 65,291,534 probably benign Het
Angptl8 T C 9: 21,837,053 probably benign Het
AU040320 T A 4: 126,828,839 D383E probably benign Het
Cep97 C T 16: 55,924,960 probably benign Het
Clcn4 A T 7: 7,287,673 L649H probably damaging Het
Col5a2 T C 1: 45,376,739 N1416S probably benign Het
Erbb2 C T 11: 98,435,630 P1027S probably damaging Het
Eya1 A G 1: 14,270,701 probably benign Het
Gfm2 T C 13: 97,162,977 I402T probably benign Het
Hectd1 T C 12: 51,791,390 H662R possibly damaging Het
Ifne T C 4: 88,880,031 Q50R probably benign Het
Kidins220 A G 12: 25,057,474 D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 D146V probably damaging Het
Krt36 T C 11: 100,102,948 I355V probably damaging Het
Lrrcc1 T A 3: 14,536,128 S73R possibly damaging Het
Ltbp3 A T 19: 5,754,019 H853L probably benign Het
Map3k5 G A 10: 20,141,567 R1369Q probably damaging Het
Mcm8 A G 2: 132,821,406 N148S probably benign Het
Mylk3 A T 8: 85,355,526 L211* probably null Het
Nras T C 3: 103,058,916 probably benign Het
Olfr135 A T 17: 38,208,982 I246F probably damaging Het
Olfr670 A T 7: 104,960,716 N5K probably damaging Het
Os9 A T 10: 127,120,509 Y66N probably damaging Het
Pitpnm1 A G 19: 4,101,228 D15G possibly damaging Het
Reg3a A T 6: 78,382,301 R95* probably null Het
Rnf17 C T 14: 56,512,271 P1425S probably damaging Het
Smad2 T C 18: 76,299,775 probably benign Het
Ttll5 C T 12: 85,933,482 Q76* probably null Het
Uri1 A T 7: 37,996,731 probably benign Het
Vmn2r102 G T 17: 19,678,923 probably null Het
Vmn2r70 T G 7: 85,563,799 M467L probably benign Het
Zfp318 T A 17: 46,413,726 D2218E possibly damaging Het
Zfp692 T C 11: 58,314,029 I405T possibly damaging Het
Zfp692 A G 11: 58,309,998 H235R possibly damaging Het
Other mutations in Gmeb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02882:Gmeb2 APN 2 181265883 missense probably damaging 0.98
R0437:Gmeb2 UTSW 2 181253973 missense possibly damaging 0.83
R1499:Gmeb2 UTSW 2 181255226 missense probably benign 0.01
R2064:Gmeb2 UTSW 2 181253970 missense probably benign 0.42
R2127:Gmeb2 UTSW 2 181259049 missense probably benign 0.21
R2517:Gmeb2 UTSW 2 181259026 missense probably benign 0.12
R3087:Gmeb2 UTSW 2 181255640 splice site probably benign
R4202:Gmeb2 UTSW 2 181253973 missense possibly damaging 0.83
R4470:Gmeb2 UTSW 2 181265145 intron probably null
R4936:Gmeb2 UTSW 2 181254246 missense probably benign 0.04
R5296:Gmeb2 UTSW 2 181255986 intron probably benign
R5402:Gmeb2 UTSW 2 181255957 splice site probably null
R5708:Gmeb2 UTSW 2 181264989 missense probably damaging 1.00
R5934:Gmeb2 UTSW 2 181255574 missense possibly damaging 0.63
R7673:Gmeb2 UTSW 2 181260388 missense probably benign 0.01
Posted On2013-04-17