Incidental Mutation 'IGL01977:Ddi1'
ID 181741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddi1
Ensembl Gene ENSMUSG00000047619
Gene Name DNA-damage inducible 1
Synonyms 1700011N24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL01977
Quality Score
Status
Chromosome 9
Chromosomal Location 6265028-6266547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6266226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 48 (V48F)
Ref Sequence ENSEMBL: ENSMUSP00000053223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051706] [ENSMUST00000058692] [ENSMUST00000168039] [ENSMUST00000214892]
AlphaFold Q9DAF3
PDB Structure Solution Structure of the Ubiquitin-like Domain from Mouse Hypothetical 1700011N24Rik Protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000051706
AA Change: V48F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000053223
Gene: ENSMUSG00000047619
AA Change: V48F

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,841,986 (GRCm39) S1040T probably benign Het
Adam25 T C 8: 41,208,134 (GRCm39) Y467H probably benign Het
Ank1 A G 8: 23,605,449 (GRCm39) I1061V probably benign Het
Anxa10 T C 8: 62,529,348 (GRCm39) E123G probably damaging Het
Arhgap35 G A 7: 16,297,128 (GRCm39) L646F probably damaging Het
Atp8b5 A G 4: 43,320,590 (GRCm39) probably null Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Carmil3 A G 14: 55,730,993 (GRCm39) T87A probably damaging Het
Ccdc172 A G 19: 58,541,309 (GRCm39) D256G possibly damaging Het
Cep350 C T 1: 155,787,714 (GRCm39) A1375T probably benign Het
Chrdl2 A T 7: 99,671,263 (GRCm39) Q127L probably benign Het
Cyp2c29 T C 19: 39,279,341 (GRCm39) probably benign Het
Ddrgk1 C T 2: 130,497,166 (GRCm39) probably benign Het
Fastkd1 C T 2: 69,524,932 (GRCm39) V626I possibly damaging Het
Fgd5 A G 6: 92,001,543 (GRCm39) T755A probably benign Het
Fpgt G T 3: 154,793,655 (GRCm39) T124K probably damaging Het
Gnl2 G A 4: 124,941,405 (GRCm39) probably null Het
Got1 A T 19: 43,504,284 (GRCm39) S46T probably benign Het
Hbb-bt G T 7: 103,463,070 (GRCm39) H3N probably benign Het
Ikbke C T 1: 131,199,838 (GRCm39) probably benign Het
Il2rb A G 15: 78,365,897 (GRCm39) S467P probably benign Het
Kcnma1 A G 14: 23,580,367 (GRCm39) probably benign Het
Ltbp2 T C 12: 84,876,973 (GRCm39) N391D probably damaging Het
Npr3 A T 15: 11,858,804 (GRCm39) I360N probably damaging Het
Nradd G A 9: 110,451,237 (GRCm39) P44S possibly damaging Het
Or5m10 G T 2: 85,717,711 (GRCm39) C189F probably damaging Het
Or7h8 G A 9: 20,123,755 (GRCm39) V37I possibly damaging Het
Pcdh17 A G 14: 84,770,537 (GRCm39) E1005G possibly damaging Het
Pcdhb11 A G 18: 37,555,344 (GRCm39) T225A possibly damaging Het
Pja2 T C 17: 64,604,821 (GRCm39) D454G probably benign Het
Pon3 T C 6: 5,221,670 (GRCm39) Y320C probably damaging Het
Prl2a1 A G 13: 27,990,261 (GRCm39) D70G probably damaging Het
Proc T A 18: 32,260,472 (GRCm39) T218S probably benign Het
Proz G T 8: 13,116,913 (GRCm39) G155V probably damaging Het
Rab11fip3 T C 17: 26,286,977 (GRCm39) E392G possibly damaging Het
Rab3gap2 C T 1: 184,999,220 (GRCm39) R976* probably null Het
Shisa2 G A 14: 59,867,435 (GRCm39) C229Y probably damaging Het
Slc2a5 T C 4: 150,226,675 (GRCm39) V379A probably damaging Het
Slc31a2 A T 4: 62,214,197 (GRCm39) K47N probably damaging Het
Sult2a6 G A 7: 13,987,411 (GRCm39) T88I probably benign Het
Tbc1d14 T C 5: 36,662,381 (GRCm39) Y302C probably damaging Het
Thumpd3 C A 6: 113,036,927 (GRCm39) N275K possibly damaging Het
Tnks2 T C 19: 36,849,990 (GRCm39) probably null Het
Tube1 G A 10: 39,011,041 (GRCm39) probably benign Het
Umodl1 T A 17: 31,192,742 (GRCm39) Y290N probably damaging Het
Usp34 G A 11: 23,402,661 (GRCm39) E726K probably damaging Het
Vmn2r84 T A 10: 130,229,935 (GRCm39) D59V probably benign Het
Vps11 T A 9: 44,267,516 (GRCm39) probably benign Het
Wdr19 T C 5: 65,385,912 (GRCm39) Y631H probably benign Het
Wdr62 G A 7: 29,957,526 (GRCm39) H88Y probably damaging Het
Wdr93 A T 7: 79,402,253 (GRCm39) N184I probably damaging Het
Wnk4 T A 11: 101,156,240 (GRCm39) F473Y probably damaging Het
Zbtb16 A G 9: 48,568,483 (GRCm39) W661R probably damaging Het
Other mutations in Ddi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Ddi1 APN 9 6,265,773 (GRCm39) missense probably damaging 0.97
IGL02260:Ddi1 APN 9 6,265,760 (GRCm39) missense probably benign
IGL02543:Ddi1 APN 9 6,266,183 (GRCm39) missense possibly damaging 0.79
IGL02678:Ddi1 APN 9 6,266,106 (GRCm39) missense probably benign
R0482:Ddi1 UTSW 9 6,266,144 (GRCm39) missense probably damaging 0.96
R1313:Ddi1 UTSW 9 6,265,769 (GRCm39) missense probably damaging 0.99
R1313:Ddi1 UTSW 9 6,265,769 (GRCm39) missense probably damaging 0.99
R1588:Ddi1 UTSW 9 6,265,391 (GRCm39) missense probably damaging 0.98
R1605:Ddi1 UTSW 9 6,266,012 (GRCm39) missense probably benign 0.02
R1671:Ddi1 UTSW 9 6,266,225 (GRCm39) missense possibly damaging 0.81
R4237:Ddi1 UTSW 9 6,265,799 (GRCm39) missense probably benign 0.00
R4239:Ddi1 UTSW 9 6,265,799 (GRCm39) missense probably benign 0.00
R4240:Ddi1 UTSW 9 6,265,799 (GRCm39) missense probably benign 0.00
R4588:Ddi1 UTSW 9 6,266,003 (GRCm39) missense probably benign 0.15
R4790:Ddi1 UTSW 9 6,265,761 (GRCm39) missense probably benign 0.00
R4950:Ddi1 UTSW 9 6,266,073 (GRCm39) missense probably benign 0.04
R5626:Ddi1 UTSW 9 6,266,003 (GRCm39) missense probably benign
R7413:Ddi1 UTSW 9 6,265,670 (GRCm39) missense probably damaging 1.00
R8052:Ddi1 UTSW 9 6,265,787 (GRCm39) missense probably benign
R8260:Ddi1 UTSW 9 6,265,524 (GRCm39) missense probably damaging 1.00
R8285:Ddi1 UTSW 9 6,265,808 (GRCm39) missense probably benign 0.00
R8356:Ddi1 UTSW 9 6,266,249 (GRCm39) missense probably benign 0.09
R8885:Ddi1 UTSW 9 6,266,198 (GRCm39) missense probably benign 0.44
R9564:Ddi1 UTSW 9 6,265,730 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07