Incidental Mutation 'IGL02249:Gadd45b'
ID286316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gadd45b
Ensembl Gene ENSMUSG00000015312
Gene Namegrowth arrest and DNA-damage-inducible 45 beta
SynonymsMyd118
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.790) question?
Stock #IGL02249
Quality Score
Status
Chromosome10
Chromosomal Location80930073-80932204 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80931133 bp
ZygosityHeterozygous
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]
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: 53,185,272 K23* probably null Het
Abca1 A T 4: 53,068,739 L1333* probably null Het
Adcy6 C A 15: 98,599,914 M452I probably damaging Het
Adsl G A 15: 80,960,475 R173H probably benign Het
Ank3 A G 10: 69,882,370 T484A probably damaging Het
Apol10a A G 15: 77,488,509 D115G probably damaging Het
Bard1 A G 1: 71,053,669 S529P probably damaging Het
C2 A G 17: 34,864,508 probably benign Het
Cftr T A 6: 18,277,871 I956N possibly damaging Het
Cwc15 A G 9: 14,503,681 T110A probably benign Het
Dsg4 A T 18: 20,461,304 I497F possibly damaging Het
Glb1l3 A T 9: 26,831,268 S307R possibly damaging Het
Greb1l G A 18: 10,532,961 G843R probably damaging Het
H2-M11 A T 17: 36,547,937 Y123F probably benign Het
Hal G A 10: 93,497,538 A323T probably damaging Het
Il4ra T C 7: 125,567,224 F47L probably benign Het
Klra10 T A 6: 130,279,404 N96Y probably benign Het
Mki67 T A 7: 135,700,522 M928L possibly damaging Het
Myh15 T A 16: 49,110,484 V607D probably damaging Het
Ndufaf2 A G 13: 108,081,391 W74R probably damaging Het
Noc4l C A 5: 110,653,215 probably benign Het
Olfr623 T A 7: 103,660,366 I295F probably damaging Het
Papss1 T A 3: 131,602,011 W274R probably damaging Het
Pax3 C T 1: 78,195,325 V83I probably damaging Het
Prmt5 C T 14: 54,509,865 R485H probably damaging Het
Ptprq A G 10: 107,582,359 Y1719H probably damaging Het
Ranbp2 A T 10: 58,480,078 I2207F possibly damaging Het
Rock2 T A 12: 16,971,041 probably benign Het
Sema3c G A 5: 17,662,963 R124H probably damaging Het
Serpina1e G A 12: 103,951,134 T92M probably benign Het
Sgip1 T C 4: 102,911,470 L83P probably benign Het
Tm9sf2 C T 14: 122,123,750 S68L probably damaging Het
Tmem178 A G 17: 80,989,806 T206A probably damaging Het
Tmem207 A T 16: 26,517,867 Y46N possibly damaging Het
Tmem57 T C 4: 134,828,312 I283M possibly damaging Het
Tyk2 A G 9: 21,120,407 L429P probably damaging Het
Other mutations in Gadd45b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Gadd45b APN 10 80931241 missense probably damaging 1.00
BB009:Gadd45b UTSW 10 80930335 missense possibly damaging 0.76
BB019:Gadd45b UTSW 10 80930335 missense possibly damaging 0.76
R0225:Gadd45b UTSW 10 80930347 missense probably benign 0.01
R7127:Gadd45b UTSW 10 80931165 missense probably benign 0.00
R7932:Gadd45b UTSW 10 80930335 missense possibly damaging 0.76
R8009:Gadd45b UTSW 10 80931150 missense probably benign 0.02
Posted On2015-04-16