Incidental Mutation 'IGL02260:Ddi1'
ID286716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddi1
Ensembl Gene ENSMUSG00000047619
Gene NameDNA-damage inducible 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL02260
Quality Score
Status
Chromosome9
Chromosomal Location6262733-6269846 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 6265760 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 203 (M203K)
Ref Sequence ENSEMBL: ENSMUSP00000053223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051706] [ENSMUST00000058692] [ENSMUST00000168039] [ENSMUST00000214892]
PDB Structure
Solution Structure of the Ubiquitin-like Domain from Mouse Hypothetical 1700011N24Rik Protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000051706
AA Change: M203K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053223
Gene: ENSMUSG00000047619
AA Change: M203K

DomainStartEndE-ValueType
UBQ 3 77 4.57e-1 SMART
low complexity region 111 123 N/A INTRINSIC
low complexity region 191 202 N/A INTRINSIC
Pfam:Asp_protease 226 349 3.3e-63 PFAM
Pfam:RVP_2 229 362 3.6e-8 PFAM
Pfam:RVP 250 349 2.5e-8 PFAM
Pfam:Asp_protease_2 252 340 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058692
SMART Domains Protein: ENSMUSP00000056240
Gene: ENSMUSG00000032006

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CUB 48 164 5.38e-25 SMART
PDGF 265 358 4.58e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168039
SMART Domains Protein: ENSMUSP00000128388
Gene: ENSMUSG00000032006

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CUB 54 170 5.38e-25 SMART
PDGF 271 364 4.58e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214892
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C T 17: 57,447,891 A663V probably benign Het
Atg2b A T 12: 105,636,440 probably benign Het
B4galt6 T C 18: 20,700,747 I194V probably benign Het
Caprin1 T C 2: 103,779,369 Y188C probably damaging Het
Ccdc85a A G 11: 28,576,672 F284S possibly damaging Het
Ccdc88b A T 19: 6,855,349 probably benign Het
Cox18 C T 5: 90,217,525 V272I possibly damaging Het
Dars A T 1: 128,372,161 M362K probably benign Het
Dlg4 G A 11: 70,042,267 G500R probably damaging Het
Ebf3 G A 7: 137,206,190 P375S probably damaging Het
Eif5b T A 1: 38,045,456 L842M possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm5581 T C 6: 131,167,946 noncoding transcript Het
Mapk10 A T 5: 103,038,668 D29E probably benign Het
Mib2 C T 4: 155,661,171 R61H probably damaging Het
Mki67 A G 7: 135,701,968 S724P probably benign Het
Mtor T C 4: 148,538,301 I1946T probably damaging Het
Myh14 A G 7: 44,611,571 L1873P probably damaging Het
Myom1 C T 17: 71,108,315 Q1226* probably null Het
Neb A G 2: 52,205,656 L4858P probably damaging Het
Olfr1036 C A 2: 86,075,472 T244K possibly damaging Het
Olfr502 T C 7: 108,523,285 I222V probably benign Het
Olfr561 A T 7: 102,774,907 I128F probably damaging Het
Pcdhb14 C T 18: 37,450,033 H731Y probably benign Het
Prdm16 T C 4: 154,328,287 N1087S probably benign Het
Prdm2 C T 4: 143,134,587 G711D probably damaging Het
Proser1 G A 3: 53,478,944 G749D probably damaging Het
Ptch1 A T 13: 63,565,352 probably benign Het
Pus10 A T 11: 23,707,548 K233* probably null Het
Rasa2 A G 9: 96,544,319 Y825H probably benign Het
Tbcd T C 11: 121,603,278 F969S probably damaging Het
Tbp T A 17: 15,504,616 S133T probably damaging Het
Tnks C T 8: 34,842,983 G1062D probably damaging Het
Tnrc6b T A 15: 80,880,171 S625T probably damaging Het
Triobp T C 15: 78,966,362 S239P probably benign Het
Ubiad1 T C 4: 148,444,107 D115G probably benign Het
Uckl1 A G 2: 181,569,588 S483P probably damaging Het
Vill A G 9: 119,058,441 D91G probably benign Het
Wdr62 C A 7: 30,270,782 C200F probably damaging Het
Zfp341 G A 2: 154,642,049 C586Y possibly damaging Het
Zfp687 G A 3: 95,011,264 T399I possibly damaging Het
Zp1 G T 19: 10,916,714 probably benign Het
Zzz3 T A 3: 152,452,083 D263E probably benign Het
Other mutations in Ddi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Ddi1 APN 9 6265773 missense probably damaging 0.97
IGL01977:Ddi1 APN 9 6266226 missense probably benign 0.01
IGL02543:Ddi1 APN 9 6266183 missense possibly damaging 0.79
IGL02678:Ddi1 APN 9 6266106 missense probably benign
R0482:Ddi1 UTSW 9 6266144 missense probably damaging 0.96
R1313:Ddi1 UTSW 9 6265769 missense probably damaging 0.99
R1313:Ddi1 UTSW 9 6265769 missense probably damaging 0.99
R1588:Ddi1 UTSW 9 6265391 missense probably damaging 0.98
R1605:Ddi1 UTSW 9 6266012 missense probably benign 0.02
R1671:Ddi1 UTSW 9 6266225 missense possibly damaging 0.81
R4237:Ddi1 UTSW 9 6265799 missense probably benign 0.00
R4239:Ddi1 UTSW 9 6265799 missense probably benign 0.00
R4240:Ddi1 UTSW 9 6265799 missense probably benign 0.00
R4588:Ddi1 UTSW 9 6266003 missense probably benign 0.15
R4790:Ddi1 UTSW 9 6265761 missense probably benign 0.00
R4950:Ddi1 UTSW 9 6266073 missense probably benign 0.04
R5626:Ddi1 UTSW 9 6266003 missense probably benign
Posted On2015-04-16