Incidental Mutation 'R7368:Ddit3'
ID 571940
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 045452-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7368 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127126662-127132160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127131776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 108 (G108D)
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: G108D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026475
Gene: ENSMUSG00000025408
AA Change: G108D

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: G108D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118339
Gene: ENSMUSG00000025408
AA Change: G108D

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (61/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A T 12: 84,659,639 (GRCm39) F153I possibly damaging Het
Adcy1 G A 11: 7,094,765 (GRCm39) V564I probably damaging Het
Apol9b T C 15: 77,620,134 (GRCm39) I310T possibly damaging Het
Arhgef28 C A 13: 98,133,370 (GRCm39) V366F probably benign Het
B020004C17Rik C T 14: 57,254,773 (GRCm39) T199I possibly damaging Het
Carmil2 C T 8: 106,417,467 (GRCm39) T575I possibly damaging Het
Catsper1 A T 19: 5,386,691 (GRCm39) Q308L unknown Het
Cpa2 T A 6: 30,551,989 (GRCm39) S239T probably damaging Het
Cyrib A T 15: 63,810,507 (GRCm39) probably null Het
Dnah3 T C 7: 119,628,239 (GRCm39) I1473V probably benign Het
Dscam A G 16: 96,445,131 (GRCm39) V1520A probably benign Het
Edc4 TAGTAGCAGCAGCAGTAGCAGCAGCAG TAGTAGCAGCAGCAG 8: 106,615,037 (GRCm39) probably benign Het
Ednrb T A 14: 104,057,453 (GRCm39) I370F probably benign Het
Ehd3 A G 17: 74,134,457 (GRCm39) E272G possibly damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Fkbp11 T C 15: 98,622,307 (GRCm39) K189E unknown Het
Frem1 T A 4: 82,884,381 (GRCm39) E1190D probably benign Het
Gabrg2 A C 11: 41,867,390 (GRCm39) Y76* probably null Het
Gm11437 T A 11: 84,058,298 (GRCm39) probably benign Het
Gm8947 C A 1: 151,068,847 (GRCm39) Q227K probably benign Het
Gm9195 A G 14: 72,717,496 (GRCm39) F279S probably damaging Het
Gpbp1l1 T C 4: 116,430,655 (GRCm39) I42T probably benign Het
Hdac5 A T 11: 102,088,207 (GRCm39) V939E probably null Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Kitl A T 10: 99,851,943 (GRCm39) I21F probably benign Het
Krt1 T C 15: 101,755,307 (GRCm39) D484G probably damaging Het
Larp1 C A 11: 57,938,904 (GRCm39) P527T probably damaging Het
Lrp5 A G 19: 3,670,085 (GRCm39) V673A possibly damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Mmp27 G A 9: 7,577,318 (GRCm39) V228M probably damaging Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo15a G T 11: 60,381,741 (GRCm39) probably null Het
Myt1 A G 2: 181,424,384 (GRCm39) K26E possibly damaging Het
Nek1 T A 8: 61,542,741 (GRCm39) I777N probably benign Het
Nlrc5 C T 8: 95,203,021 (GRCm39) R374* probably null Het
Nol8 T C 13: 49,814,695 (GRCm39) S268P probably benign Het
Nynrin T A 14: 56,107,968 (GRCm39) L1025Q probably damaging Het
Or8h9 A G 2: 86,789,602 (GRCm39) S67P probably damaging Het
Osbpl3 A T 6: 50,325,078 (GRCm39) L140H probably damaging Het
Pcnt T C 10: 76,235,835 (GRCm39) N1382S probably benign Het
Pef1 T A 4: 130,021,178 (GRCm39) L244* probably null Het
Phf11a T C 14: 59,518,174 (GRCm39) E191G probably benign Het
Polr3a A T 14: 24,517,144 (GRCm39) D702E probably damaging Het
Ptch1 C T 13: 63,659,798 (GRCm39) G1285D probably benign Het
Ptpn3 T C 4: 57,221,993 (GRCm39) D566G probably damaging Het
Pwp2 C T 10: 78,018,314 (GRCm39) G126R probably damaging Het
Scgb1b12 T C 7: 32,033,992 (GRCm39) I84T probably damaging Het
Sh2b1 A T 7: 126,067,685 (GRCm39) D618E possibly damaging Het
Slc35f5 T A 1: 125,512,256 (GRCm39) V352E probably damaging Het
Sppl2c A G 11: 104,078,430 (GRCm39) E410G probably damaging Het
St6galnac2 T C 11: 116,570,805 (GRCm39) Y261C probably damaging Het
Stra6 G A 9: 58,058,543 (GRCm39) R468Q probably benign Het
Taf3 T C 2: 9,921,188 (GRCm39) H924R unknown Het
Tbx18 C A 9: 87,612,750 (GRCm39) V50L probably benign Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Unc45b C T 11: 82,833,321 (GRCm39) T845I probably benign Het
Usp15 T C 10: 123,032,798 (GRCm39) D8G possibly damaging Het
Vmn2r91 A G 17: 18,356,540 (GRCm39) I736V possibly damaging Het
Vps13c C A 9: 67,821,355 (GRCm39) D1288E probably benign Het
Zfp458 T A 13: 67,405,300 (GRCm39) M380L probably benign Het
Zfp638 A G 6: 83,906,437 (GRCm39) N201D possibly damaging Het
Other mutations in Ddit3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8877:Ddit3 UTSW 10 127,131,884 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGGTTTGTATGCCTCTCCTGAAC -3'
(R):5'- CCACTGTTCATGCTTGGTGC -3'

Sequencing Primer
(F):5'- AGAATCAAAAACCTTCACTACTCTTG -3'
(R):5'- CTTGGTGCAGGCTGACCATG -3'
Posted On 2019-09-13