Incidental Mutation 'R5127:Ddit4'
ID 394825
Institutional Source Beutler Lab
Gene Symbol Ddit4
Ensembl Gene ENSMUSG00000020108
Gene Name DNA-damage-inducible transcript 4
Synonyms 5830413E08Rik, Dig2, REDD1, Rtp801
MMRRC Submission 042715-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R5127 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 59785497-59787592 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59786491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 186 (I186T)
Ref Sequence ENSEMBL: ENSMUSP00000020308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020308]
AlphaFold Q9D3F7
Predicted Effect probably damaging
Transcript: ENSMUST00000020308
AA Change: I186T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020308
Gene: ENSMUSG00000020108
AA Change: I186T

DomainStartEndE-ValueType
low complexity region 45 59 N/A INTRINSIC
Pfam:RTP801_C 101 220 3.2e-47 PFAM
Meta Mutation Damage Score 0.7274 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 93% (42/45)
MGI Phenotype PHENOTYPE: Homozygous null mice show resistance to hyperoxia-induced retinopathy. Mice homozygous for another knock-out allele exhibit normal testis development and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,902,826 (GRCm39) K497E probably damaging Het
4933413J09Rik A G 14: 26,097,462 (GRCm39) noncoding transcript Het
Aox1 A T 1: 58,069,185 (GRCm39) I4F probably benign Het
Arhgef5 A T 6: 43,250,148 (GRCm39) N300Y probably damaging Het
B530045E10Rik A G 10: 99,257,983 (GRCm39) noncoding transcript Het
Ccnb1 C G 13: 100,918,283 (GRCm39) Q121H possibly damaging Het
Cdh20 A G 1: 104,875,073 (GRCm39) E285G probably damaging Het
Cfap54 A T 10: 92,722,249 (GRCm39) probably null Het
Col6a3 A G 1: 90,696,067 (GRCm39) C2667R unknown Het
Cts8 C T 13: 61,401,149 (GRCm39) V126M probably damaging Het
Dag1 A T 9: 108,084,771 (GRCm39) I790N possibly damaging Het
Dnajc11 T A 4: 152,054,271 (GRCm39) probably benign Het
Farsa A G 8: 85,595,593 (GRCm39) D495G probably benign Het
Gm1527 T A 3: 28,957,567 (GRCm39) I157N probably damaging Het
Gm5773 T A 3: 93,680,735 (GRCm39) W136R probably benign Het
Hpse C A 5: 100,867,403 (GRCm39) A20S unknown Het
Igfn1 A G 1: 135,887,634 (GRCm39) Y2477H probably damaging Het
Kcnh5 A G 12: 74,944,858 (GRCm39) V797A probably benign Het
Kptn T A 7: 15,859,710 (GRCm39) C311* probably null Het
Lpcat2 A T 8: 93,635,819 (GRCm39) N407I possibly damaging Het
Lrp1 T A 10: 127,375,503 (GRCm39) probably benign Het
Ovol2 C T 2: 144,159,780 (GRCm39) C120Y probably damaging Het
Pcdhac2 G T 18: 37,277,352 (GRCm39) E111* probably null Het
Pknox1 C T 17: 31,809,713 (GRCm39) P106S probably benign Het
Plet1 C T 9: 50,415,595 (GRCm39) T155I probably benign Het
Ppfia2 A G 10: 106,671,621 (GRCm39) K444R probably damaging Het
Prrc2c A T 1: 162,525,415 (GRCm39) I397N unknown Het
Ranbp1 A G 16: 18,065,151 (GRCm39) probably null Het
Raver2 T C 4: 100,960,182 (GRCm39) C221R probably damaging Het
Reps1 A G 10: 17,969,628 (GRCm39) T244A probably benign Het
Slc22a16 G A 10: 40,449,953 (GRCm39) V130I probably benign Het
Stmnd1 G A 13: 46,453,071 (GRCm39) S249N probably benign Het
Styx A G 14: 45,610,961 (GRCm39) probably null Het
Sult1b1 T G 5: 87,669,407 (GRCm39) N147T probably damaging Het
Tbc1d2 G A 4: 46,633,639 (GRCm39) probably benign Het
Tm4sf1 T G 3: 57,200,289 (GRCm39) I109L possibly damaging Het
Ufl1 T C 4: 25,256,010 (GRCm39) E423G probably benign Het
Unc13c T C 9: 73,840,654 (GRCm39) I66V probably benign Het
Wfdc10 C T 2: 164,499,060 (GRCm39) Q57* probably null Het
Zeb1os1 T C 18: 5,567,390 (GRCm39) noncoding transcript Het
Zfp369 A T 13: 65,426,847 (GRCm39) probably benign Het
Other mutations in Ddit4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5642:Ddit4 UTSW 10 59,787,327 (GRCm39) missense probably benign
R7350:Ddit4 UTSW 10 59,787,317 (GRCm39) missense probably damaging 0.99
R8260:Ddit4 UTSW 10 59,787,277 (GRCm39) missense probably benign 0.00
R9030:Ddit4 UTSW 10 59,786,515 (GRCm39) missense probably damaging 1.00
R9385:Ddit4 UTSW 10 59,787,178 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCACCACAGAAATTCCTTGTC -3'
(R):5'- TGTGTGCCAACCTGATGCAG -3'

Sequencing Primer
(F):5'- AGAAATTCCTTGTCTTCACTTTGGG -3'
(R):5'- AACCTGATGCAGCTGCTG -3'
Posted On 2016-06-21