Incidental Mutation 'R8877:Ddit3'
ID 676646
Institutional Source Beutler Lab
Gene Symbol Ddit3
Ensembl Gene ENSMUSG00000025408
Gene Name DNA-damage inducible transcript 3
Synonyms chop, CHOP-10, CHOP10, gadd153, C/EBP homoologous protein 10
MMRRC Submission 068745-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8877 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127126662-127132160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127131884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 144 (I144T)
Ref Sequence ENSEMBL: ENSMUSP00000026475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026475] [ENSMUST00000037290] [ENSMUST00000139091] [ENSMUST00000171564] [ENSMUST00000230446]
AlphaFold P35639
Predicted Effect probably damaging
Transcript: ENSMUST00000026475
AA Change: I144T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026475
Gene: ENSMUSG00000025408
AA Change: I144T

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
BRLZ 94 160 1.23e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000037290
SMART Domains Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354

DomainStartEndE-ValueType
PDB:4BL7|A 1 220 1e-118 PDB
low complexity region 221 233 N/A INTRINSIC
Pfam:tRNA-synt_1g 268 660 6.8e-142 PFAM
WHEP-TRS 847 902 7.95e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134778
SMART Domains Protein: ENSMUSP00000118031
Gene: ENSMUSG00000040354

DomainStartEndE-ValueType
SCOP:d1f4la1 5 91 2e-10 SMART
WHEP-TRS 129 184 7.95e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139091
AA Change: I144T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118339
Gene: ENSMUSG00000025408
AA Change: I144T

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
BRLZ 94 160 1.23e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171564
SMART Domains Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354

DomainStartEndE-ValueType
low complexity region 17 26 N/A INTRINSIC
Pfam:GST_C 94 180 1e-6 PFAM
low complexity region 205 213 N/A INTRINSIC
low complexity region 221 233 N/A INTRINSIC
Pfam:tRNA-synt_1g 268 660 9.6e-149 PFAM
WHEP-TRS 855 910 7.95e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230446
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased apoptosis in different cell types. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,288,704 (GRCm39) probably null Het
Acp2 G A 2: 91,036,129 (GRCm39) R109H probably damaging Het
Adamts8 T C 9: 30,862,688 (GRCm39) S298P probably damaging Het
Anxa7 A G 14: 20,517,548 (GRCm39) V157A probably benign Het
Arid3b T C 9: 57,740,904 (GRCm39) K181E probably damaging Het
Armt1 A G 10: 4,400,864 (GRCm39) T204A possibly damaging Het
Brip1 A C 11: 86,043,532 (GRCm39) V344G possibly damaging Het
Ccdc40 C T 11: 119,153,992 (GRCm39) S1088L probably damaging Het
Ccdc93 A T 1: 121,403,867 (GRCm39) H332L probably benign Het
Celsr3 A G 9: 108,706,877 (GRCm39) D1120G probably damaging Het
Cep104 T A 4: 154,077,985 (GRCm39) I631N probably damaging Het
Col17a1 C T 19: 47,637,197 (GRCm39) A1354T unknown Het
Cpa2 T C 6: 30,541,692 (GRCm39) L10P probably damaging Het
Creg2 G T 1: 39,689,861 (GRCm39) T83K probably benign Het
Dmxl1 A G 18: 50,011,292 (GRCm39) I1150V possibly damaging Het
Eprs1 C T 1: 185,148,071 (GRCm39) R1278* probably null Het
Esco1 A G 18: 10,575,017 (GRCm39) V685A probably damaging Het
Gid8 C T 2: 180,358,710 (GRCm39) A125V probably damaging Het
Gin1 A G 1: 97,710,941 (GRCm39) D208G possibly damaging Het
Gja10 G A 4: 32,602,441 (GRCm39) probably benign Het
Grin2d T C 7: 45,503,699 (GRCm39) I679V probably damaging Het
Gsto2 C A 19: 47,873,176 (GRCm39) R184S probably damaging Het
Hira T A 16: 18,770,854 (GRCm39) H830Q probably benign Het
Hmcn1 G A 1: 150,514,659 (GRCm39) T3571I probably benign Het
Khnyn T C 14: 56,131,782 (GRCm39) V568A possibly damaging Het
Kif13a T A 13: 46,954,921 (GRCm39) probably null Het
Larp4b T C 13: 9,193,835 (GRCm39) V161A probably benign Het
Larp6 T A 9: 60,644,850 (GRCm39) M330K probably benign Het
Lhfpl6 A G 3: 52,950,974 (GRCm39) R83G possibly damaging Het
Mavs A G 2: 131,087,489 (GRCm39) N329S possibly damaging Het
Mep1b T A 18: 21,221,630 (GRCm39) N193K possibly damaging Het
Msantd5f6 T A 4: 73,322,468 (GRCm39) R12* probably null Het
Mttp A T 3: 137,818,317 (GRCm39) D380E probably damaging Het
Nbeal2 G A 9: 110,459,311 (GRCm39) T1939I probably damaging Het
Nsun7 A T 5: 66,453,294 (GRCm39) R670* probably null Het
Obsl1 G A 1: 75,473,167 (GRCm39) R1019* probably null Het
Or10ak12 A G 4: 118,666,482 (GRCm39) V193A probably damaging Het
Or5w11 T C 2: 87,459,212 (GRCm39) M19T probably damaging Het
Phc3 C T 3: 30,968,271 (GRCm39) V922I probably damaging Het
Pip5kl1 T C 2: 32,468,951 (GRCm39) V190A possibly damaging Het
Plekhg2 G T 7: 28,060,278 (GRCm39) T993N possibly damaging Het
Psg26 C T 7: 18,217,865 (GRCm39) V18I probably benign Het
Slc11a1 A G 1: 74,419,424 (GRCm39) Y187C probably damaging Het
Smarcd3 A G 5: 24,798,990 (GRCm39) S323P possibly damaging Het
Spen G T 4: 141,199,137 (GRCm39) Y3163* probably null Het
Stx4a T A 7: 127,447,633 (GRCm39) V259D probably damaging Het
Synj2 T C 17: 6,087,941 (GRCm39) S1331P probably damaging Het
Tmprss11c G A 5: 86,385,540 (GRCm39) Q311* probably null Het
Tpo T A 12: 30,142,738 (GRCm39) N662I probably damaging Het
Trav13d-4 C A 14: 53,995,350 (GRCm39) D101E probably damaging Het
Trbv14 G A 6: 41,112,292 (GRCm39) A30T probably benign Het
Unc80 T C 1: 66,567,144 (GRCm39) S917P possibly damaging Het
Zc3h6 T A 2: 128,856,319 (GRCm39) C466* probably null Het
Zfp462 T C 4: 55,011,097 (GRCm39) V1021A probably damaging Het
Zfp51 T C 17: 21,682,017 (GRCm39) M72T probably damaging Het
Zfp704 C T 3: 9,674,416 (GRCm39) E122K unknown Het
Zfyve26 T C 12: 79,334,152 (GRCm39) K289E probably benign Het
Other mutations in Ddit3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7368:Ddit3 UTSW 10 127,131,776 (GRCm39) missense probably damaging 1.00
R7818:Ddit3 UTSW 10 127,131,662 (GRCm39) missense probably benign 0.00
R8314:Ddit3 UTSW 10 127,131,590 (GRCm39) critical splice acceptor site probably null
R8407:Ddit3 UTSW 10 127,131,318 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTTCTATGGCCCAGGAGGAAG -3'
(R):5'- TGTACCGTCTATGTGCAAGCC -3'

Sequencing Primer
(F):5'- TATGGCCCAGGAGGAAGAGGAG -3'
(R):5'- TCTATGTGCAAGCCGAGCC -3'
Posted On 2021-07-15