Incidental Mutation 'IGL03004:Ddit4l'
ID407488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddit4l
Ensembl Gene ENSMUSG00000046818
Gene NameDNA-damage-inducible transcript 4-like
Synonyms1700037B15Rik, REDD2, 1700108M02Rik, RTP801L
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL03004
Quality Score
Status
Chromosome3
Chromosomal Location137621612-137628333 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 137626205 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 111 (N111D)
Ref Sequence ENSEMBL: ENSMUSP00000058896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053855] [ENSMUST00000165845]
Predicted Effect probably benign
Transcript: ENSMUST00000053855
AA Change: N111D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000058896
Gene: ENSMUSG00000046818
AA Change: N111D

DomainStartEndE-ValueType
Pfam:RTP801_C 65 183 1.4e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116680
Predicted Effect probably benign
Transcript: ENSMUST00000165845
SMART Domains Protein: ENSMUSP00000127567
Gene: ENSMUSG00000046818

DomainStartEndE-ValueType
Pfam:RTP801_C 65 100 6.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167564
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,965,677 probably benign Het
Atrx A T X: 105,832,509 C78* probably null Het
Birc6 T A 17: 74,612,185 N1999K probably benign Het
Cdc42bpg G A 19: 6,311,383 R313Q probably benign Het
Clip3 A G 7: 30,292,364 Y55C probably damaging Het
Eprs T G 1: 185,381,833 M326R probably damaging Het
F8 C T X: 75,212,052 G2045D probably damaging Het
Fstl5 A G 3: 76,648,431 probably benign Het
Gm10577 T C 4: 101,020,329 probably benign Het
Heatr6 T C 11: 83,757,379 S133P probably benign Het
Itpr3 T G 17: 27,097,978 F736V possibly damaging Het
Klf8 T C X: 153,382,720 L95P probably damaging Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Map3k12 A G 15: 102,504,196 V247A possibly damaging Het
Obscn A G 11: 59,028,587 Y6211H probably damaging Het
Olfr348 A G 2: 36,787,182 Y219C probably damaging Het
Pip4k2b A G 11: 97,724,474 Y187H probably damaging Het
Rabggta A G 14: 55,719,230 probably benign Het
Ranbp3 T A 17: 56,707,207 V246E probably damaging Het
Rtf1 C A 2: 119,701,273 probably benign Het
Sema3b G A 9: 107,602,915 P208L possibly damaging Het
Smpd1 A G 7: 105,556,674 D416G possibly damaging Het
Spam1 T C 6: 24,796,914 V288A probably damaging Het
Stac A C 9: 111,602,540 S248A probably benign Het
Tmem178b C A 6: 40,245,581 R77S probably damaging Het
Vegfd T C X: 164,402,108 L352P probably benign Het
Vmn1r176 A T 7: 23,835,277 N150K probably damaging Het
Vmn1r230 T C 17: 20,847,510 probably benign Het
Vsig10 A G 5: 117,325,075 Y122C probably damaging Het
Xpo5 T A 17: 46,207,840 V121E probably damaging Het
Zrsr2 T C X: 163,939,401 Q285R probably benign Het
Other mutations in Ddit4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0265:Ddit4l UTSW 3 137624287 splice site probably benign
R0357:Ddit4l UTSW 3 137626185 missense probably benign 0.40
R1550:Ddit4l UTSW 3 137624275 critical splice donor site probably null
R6572:Ddit4l UTSW 3 137626350 missense probably benign 0.16
R6667:Ddit4l UTSW 3 137626121 missense probably benign 0.29
R7428:Ddit4l UTSW 3 137626170 missense probably damaging 1.00
Z1088:Ddit4l UTSW 3 137626362 missense probably benign 0.04
Posted On2016-08-02