Incidental Mutation 'R9491:Gadd45a'
ID 716928
Institutional Source Beutler Lab
Gene Symbol Gadd45a
Ensembl Gene ENSMUSG00000036390
Gene Name growth arrest and DNA-damage-inducible 45 alpha
Synonyms Ddit1
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # R9491 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 67012080-67014391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67012730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 137 (D137E)
Ref Sequence ENSEMBL: ENSMUSP00000044034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043098] [ENSMUST00000204282] [ENSMUST00000204369]
AlphaFold P48316
Predicted Effect probably benign
Transcript: ENSMUST00000043098
AA Change: D137E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044034
Gene: ENSMUSG00000036390
AA Change: D137E

DomainStartEndE-ValueType
Pfam:Ribosomal_L7Ae 21 113 2.2e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204282
AA Change: I58N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145136
Gene: ENSMUSG00000036390
AA Change: I58N

DomainStartEndE-ValueType
PDB:2KG4|A 1 49 5e-25 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000204369
AA Change: D103E

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000145432
Gene: ENSMUSG00000036390
AA Change: D103E

DomainStartEndE-ValueType
Pfam:Ribosomal_L7Ae 11 81 2.2e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice show genomic instability, thymus hyperplasia, elevated radiation carcinogenesis, abnormal parturition and low frequency exencephaly. Females develop a lupus-like syndrome associated with high titers of autoantibodies, hematologic deficits, glomerulonephritis and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 G A 9: 106,312,994 (GRCm39) T142I probably damaging Het
Adcy9 T C 16: 4,236,052 (GRCm39) E453G probably damaging Het
Ank3 A C 10: 69,838,339 (GRCm39) probably null Het
Asmt G A X: 169,108,405 (GRCm39) G103D possibly damaging Het
Cap2 C T 13: 46,791,366 (GRCm39) P290S possibly damaging Het
Cfap43 A T 19: 47,800,505 (GRCm39) probably null Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Clstn1 T C 4: 149,731,929 (GRCm39) S950P probably damaging Het
Cluap1 G A 16: 3,758,732 (GRCm39) R398Q probably benign Het
Cmbl G T 15: 31,582,119 (GRCm39) V39L probably benign Het
Dapk1 A G 13: 60,877,369 (GRCm39) D536G probably benign Het
Ddx3y T A Y: 1,279,465 (GRCm39) D133V probably benign Het
Duox1 T A 2: 122,156,907 (GRCm39) S525T probably benign Het
Eif2s2 T C 2: 154,734,630 (GRCm39) probably benign Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Gmppa A G 1: 75,415,602 (GRCm39) D120G probably damaging Het
Gpr156 A T 16: 37,825,704 (GRCm39) R640S probably benign Het
Grik1 A T 16: 87,746,995 (GRCm39) M414K Het
Gtse1 C T 15: 85,755,734 (GRCm39) P466L probably damaging Het
H6pd T A 4: 150,080,366 (GRCm39) N160Y probably benign Het
Hectd4 T G 5: 121,452,981 (GRCm39) L496R probably damaging Het
Hnrnpk G T 13: 58,541,050 (GRCm39) Q441K probably benign Het
Incenp T C 19: 9,854,141 (GRCm39) K637E unknown Het
Irgc C T 7: 24,132,349 (GRCm39) R156H probably benign Het
Kazn C T 4: 141,845,436 (GRCm39) A383T Het
Lmln A G 16: 32,890,358 (GRCm39) E169G possibly damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mdfic T A 6: 15,799,852 (GRCm39) C326* probably null Het
Ncoa1 T A 12: 4,340,912 (GRCm39) D840V probably benign Het
Nkd1 A G 8: 89,300,875 (GRCm39) D81G probably benign Het
Or5an1c T C 19: 12,218,606 (GRCm39) T140A probably benign Het
Or8c10 T C 9: 38,278,971 (GRCm39) V33A possibly damaging Het
Parp4 G A 14: 56,832,828 (GRCm39) E384K probably damaging Het
Pcdhgb4 T A 18: 37,854,895 (GRCm39) L430H probably damaging Het
Pdgfrb A G 18: 61,212,056 (GRCm39) Y861C probably damaging Het
Pheta1 G A 5: 121,991,051 (GRCm39) A138T probably benign Het
Pipox T A 11: 77,772,359 (GRCm39) Y337F probably benign Het
Prcc A G 3: 87,774,671 (GRCm39) V377A probably benign Het
Prrg2 T A 7: 44,706,218 (GRCm39) Y133F probably damaging Het
Ptchd3 T C 11: 121,733,813 (GRCm39) V901A probably damaging Het
Rgl1 A G 1: 152,424,869 (GRCm39) L335P probably damaging Het
Setx T A 2: 29,037,835 (GRCm39) M1440K probably benign Het
Smchd1 A G 17: 71,667,020 (GRCm39) probably null Het
Tbpl2 T C 2: 23,986,532 (GRCm39) I6V probably benign Het
Tdrd12 T A 7: 35,188,689 (GRCm39) H516L Het
Tmem8b C T 4: 43,673,938 (GRCm39) R190C probably damaging Het
Tpmt A T 13: 47,180,752 (GRCm39) S196T probably benign Het
Trp63 A G 16: 25,695,472 (GRCm39) N478S unknown Het
Vstm5 T G 9: 15,168,586 (GRCm39) I50S probably damaging Het
Wdhd1 A T 14: 47,505,616 (GRCm39) C285* probably null Het
Zdhhc23 A C 16: 43,794,062 (GRCm39) V204G probably benign Het
Zfp653 T A 9: 21,969,622 (GRCm39) K215* probably null Het
Other mutations in Gadd45a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0940:Gadd45a UTSW 6 67,013,813 (GRCm39) missense possibly damaging 0.83
R3856:Gadd45a UTSW 6 67,013,989 (GRCm39) splice site probably null
R4842:Gadd45a UTSW 6 67,013,873 (GRCm39) missense probably damaging 1.00
R8190:Gadd45a UTSW 6 67,013,813 (GRCm39) missense possibly damaging 0.83
R8299:Gadd45a UTSW 6 67,014,183 (GRCm39) critical splice donor site probably null
Z1176:Gadd45a UTSW 6 67,013,720 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- AATCCTTGCATCAGCGTGGG -3'
(R):5'- TGGTAACCTCATGCAGAATGG -3'

Sequencing Primer
(F):5'- GGGAGTGACTGCTTGAGTAAC -3'
(R):5'- GCAAAACTCTGTGTAGTTCCG -3'
Posted On 2022-07-18