Incidental Mutation 'IGL01458:Gadd45b'
ID 84891
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 # IGL01458
Quality Score
Status
Chromosome 10
Chromosomal Location 80765925-80768038 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80767075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 105 (L105P)
Ref Sequence ENSEMBL: ENSMUSP00000151426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015456] [ENSMUST00000220246]
AlphaFold P22339
Predicted Effect probably damaging
Transcript: ENSMUST00000015456
AA Change: L120P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000015456
Gene: ENSMUSG00000015312
AA Change: L120P

DomainStartEndE-ValueType
Pfam:Ribosomal_L7Ae 21 121 1.3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219449
Predicted Effect probably damaging
Transcript: ENSMUST00000220246
AA Change: L105P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik A T 9: 3,134,008 (GRCm39) noncoding transcript Het
Akap12 A G 10: 4,304,060 (GRCm39) E290G probably damaging Het
Akap6 T A 12: 52,933,601 (GRCm39) C364* probably null Het
Akr1c18 A T 13: 4,187,143 (GRCm39) Y198N probably damaging Het
Aurka T C 2: 172,210,899 (GRCm39) probably benign Het
Bloc1s6 T A 2: 122,586,135 (GRCm39) probably null Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Csn2 T C 5: 87,843,879 (GRCm39) probably benign Het
Dsc1 T C 18: 20,232,195 (GRCm39) E271G probably damaging Het
Eif1ad4 A T 12: 87,862,158 (GRCm39) K7* probably null Het
Evi5 G A 5: 107,963,513 (GRCm39) A354V probably damaging Het
Fcer2a T A 8: 3,738,151 (GRCm39) R137S probably benign Het
Fto A G 8: 92,168,344 (GRCm39) T266A probably benign Het
Fzd4 G A 7: 89,053,943 (GRCm39) V17I unknown Het
Galntl6 T C 8: 58,880,743 (GRCm39) S137G probably damaging Het
Gpr135 T C 12: 72,116,442 (GRCm39) M442V probably benign Het
Kcnq1 T A 7: 142,748,015 (GRCm39) Y330* probably null Het
Kdm5b A G 1: 134,549,724 (GRCm39) R1106G possibly damaging Het
Lrrc8e C T 8: 4,286,141 (GRCm39) R789W probably damaging Het
Myo16 T C 8: 10,485,853 (GRCm39) L644P probably damaging Het
Nbeal1 G T 1: 60,281,784 (GRCm39) probably null Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10ag56 C T 2: 87,139,826 (GRCm39) T251I probably damaging Het
Or1e29 A T 11: 73,667,532 (GRCm39) I207N probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Ovgp1 A G 3: 105,882,307 (GRCm39) N70D probably benign Het
Panx3 A T 9: 37,572,443 (GRCm39) M369K probably damaging Het
Plet1 A G 9: 50,406,017 (GRCm39) N52S probably benign Het
Prss1l T G 6: 41,373,621 (GRCm39) D161E probably benign Het
Psg18 A T 7: 18,088,741 (GRCm39) M1K probably null Het
Ptprz1 A T 6: 22,972,843 (GRCm39) D251V probably damaging Het
Serpinb6a A G 13: 34,114,064 (GRCm39) Y88H possibly damaging Het
Siglecf G A 7: 43,004,562 (GRCm39) R297Q possibly damaging Het
Tbx15 T C 3: 99,223,544 (GRCm39) V244A probably damaging Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Trim39 A G 17: 36,574,855 (GRCm39) probably benign Het
Vps37c T C 19: 10,687,781 (GRCm39) C81R probably damaging Het
Wdr62 A T 7: 29,941,187 (GRCm39) S744T probably benign Het
Zyg11a G A 4: 108,062,099 (GRCm39) T234I probably damaging Het
Other mutations in Gadd45b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02249:Gadd45b APN 10 80,766,967 (GRCm39) missense possibly damaging 0.84
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 2013-11-11