Incidental Mutation 'IGL02249:Gadd45b'
ID 286316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gadd45b
Ensembl Gene ENSMUSG00000015312
Gene Name growth arrest and DNA-damage-inducible 45 beta
Synonyms Myd118
Accession Numbers
Essential gene? Possibly essential (E-score: 0.732) question?
Stock # IGL02249
Quality Score
Status
Chromosome 10
Chromosomal Location 80765925-80768038 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80766967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 69 (D69G)
Ref Sequence ENSEMBL: ENSMUSP00000151426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015456] [ENSMUST00000220246]
AlphaFold P22339
Predicted Effect possibly damaging
Transcript: ENSMUST00000015456
AA Change: D84G

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000015456
Gene: ENSMUSG00000015312
AA Change: D84G

DomainStartEndE-ValueType
Pfam:Ribosomal_L7Ae 21 121 1.3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219449
Predicted Effect possibly damaging
Transcript: ENSMUST00000220246
AA Change: D69G

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
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 a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus affects immune response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T A 1: 53,224,431 (GRCm39) K23* probably null Het
Abca1 A T 4: 53,068,739 (GRCm39) L1333* probably null Het
Adcy6 C A 15: 98,497,795 (GRCm39) M452I probably damaging Het
Adsl G A 15: 80,844,676 (GRCm39) R173H probably benign Het
Ank3 A G 10: 69,718,200 (GRCm39) T484A probably damaging Het
Apol10a A G 15: 77,372,709 (GRCm39) D115G probably damaging Het
Bard1 A G 1: 71,092,828 (GRCm39) S529P probably damaging Het
C2 A G 17: 35,083,484 (GRCm39) probably benign Het
Cftr T A 6: 18,277,870 (GRCm39) I956N possibly damaging Het
Cwc15 A G 9: 14,414,977 (GRCm39) T110A probably benign Het
Dsg4 A T 18: 20,594,361 (GRCm39) I497F possibly damaging Het
Glb1l3 A T 9: 26,742,564 (GRCm39) S307R possibly damaging Het
Greb1l G A 18: 10,532,961 (GRCm39) G843R probably damaging Het
H2-M11 A T 17: 36,858,829 (GRCm39) Y123F probably benign Het
Hal G A 10: 93,333,400 (GRCm39) A323T probably damaging Het
Il4ra T C 7: 125,166,396 (GRCm39) F47L probably benign Het
Klra10 T A 6: 130,256,367 (GRCm39) N96Y probably benign Het
Maco1 T C 4: 134,555,623 (GRCm39) I283M possibly damaging Het
Mki67 T A 7: 135,302,251 (GRCm39) M928L possibly damaging Het
Myh15 T A 16: 48,930,847 (GRCm39) V607D probably damaging Het
Ndufaf2 A G 13: 108,217,925 (GRCm39) W74R probably damaging Het
Noc4l C A 5: 110,801,081 (GRCm39) probably benign Het
Or51b6b T A 7: 103,309,573 (GRCm39) I295F probably damaging Het
Papss1 T A 3: 131,307,772 (GRCm39) W274R probably damaging Het
Pax3 C T 1: 78,171,962 (GRCm39) V83I probably damaging Het
Prmt5 C T 14: 54,747,322 (GRCm39) R485H probably damaging Het
Ptprq A G 10: 107,418,220 (GRCm39) Y1719H probably damaging Het
Ranbp2 A T 10: 58,315,900 (GRCm39) I2207F possibly damaging Het
Rock2 T A 12: 17,021,042 (GRCm39) probably benign Het
Sema3c G A 5: 17,867,961 (GRCm39) R124H probably damaging Het
Serpina1e G A 12: 103,917,393 (GRCm39) T92M probably benign Het
Sgip1 T C 4: 102,768,667 (GRCm39) L83P probably benign Het
Tm9sf2 C T 14: 122,361,162 (GRCm39) S68L probably damaging Het
Tmem178 A G 17: 81,297,235 (GRCm39) T206A probably damaging Het
Tmem207 A T 16: 26,336,617 (GRCm39) Y46N possibly damaging Het
Tyk2 A G 9: 21,031,703 (GRCm39) L429P probably damaging Het
Other mutations in Gadd45b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Gadd45b APN 10 80,767,075 (GRCm39) missense probably damaging 1.00
BB009:Gadd45b UTSW 10 80,766,169 (GRCm39) missense possibly damaging 0.76
BB019:Gadd45b UTSW 10 80,766,169 (GRCm39) missense possibly damaging 0.76
R0225:Gadd45b UTSW 10 80,766,181 (GRCm39) missense probably benign 0.01
R7127:Gadd45b UTSW 10 80,766,999 (GRCm39) missense probably benign 0.00
R7932:Gadd45b UTSW 10 80,766,169 (GRCm39) missense possibly damaging 0.76
R8009:Gadd45b UTSW 10 80,766,984 (GRCm39) missense probably benign 0.02
R9375:Gadd45b UTSW 10 80,766,284 (GRCm39) missense probably benign 0.19
Posted On 2015-04-16