Incidental Mutation 'R7413:Ddi1'
ID 575221
Institutional Source Beutler Lab
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 # R7413 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 6265028-6266547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6265670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 233 (M233K)
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 damaging
Transcript: ENSMUST00000051706
AA Change: M233K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053223
Gene: ENSMUSG00000047619
AA Change: M233K

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,895,524 (GRCm39) probably null Het
Agbl4 A T 4: 111,514,495 (GRCm39) D502V probably benign Het
Akap5 T A 12: 76,375,678 (GRCm39) V370E possibly damaging Het
Alms1 T C 6: 85,605,288 (GRCm39) C1844R probably benign Het
Apaf1 T C 10: 90,831,542 (GRCm39) K1191E probably benign Het
Bsn C T 9: 108,016,690 (GRCm39) R107Q possibly damaging Het
Catsperb G T 12: 101,447,307 (GRCm39) R269L probably damaging Het
Ccer1 T C 10: 97,529,804 (GRCm39) S156P unknown Het
Cdh16 C T 8: 105,346,572 (GRCm39) A241T probably benign Het
Cdk5rap2 A G 4: 70,172,972 (GRCm39) S1367P probably damaging Het
Cds2 C T 2: 132,135,235 (GRCm39) P42L probably benign Het
Col15a1 T C 4: 47,245,431 (GRCm39) Y61H possibly damaging Het
Dclre1a G A 19: 56,531,082 (GRCm39) P755S probably damaging Het
Dpp4 T C 2: 62,187,333 (GRCm39) Y474C probably damaging Het
Epha7 T A 4: 28,871,838 (GRCm39) M389K probably benign Het
Ephb3 T C 16: 21,033,457 (GRCm39) F181S probably damaging Het
Epor G A 9: 21,874,776 (GRCm39) probably benign Het
Fbp2 C A 13: 62,985,067 (GRCm39) V285L probably benign Het
Flnc A T 6: 29,452,258 (GRCm39) D1694V probably damaging Het
Ganab T A 19: 8,882,339 (GRCm39) M98K probably benign Het
Gcm2 A G 13: 41,259,230 (GRCm39) S80P probably damaging Het
Gls A G 1: 52,254,735 (GRCm39) S247P probably benign Het
Gne T C 4: 44,044,857 (GRCm39) N426D probably benign Het
Ifne A T 4: 88,797,840 (GRCm39) *193R probably null Het
Igf2r G T 17: 12,917,115 (GRCm39) S1595* probably null Het
Krt26 C T 11: 99,225,887 (GRCm39) M226I probably benign Het
Lars2 G A 9: 123,288,568 (GRCm39) V805I probably benign Het
Lrrc57 C A 2: 120,436,577 (GRCm39) R177L probably damaging Het
Lrrn1 A G 6: 107,546,083 (GRCm39) E627G probably benign Het
Magel2 CCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCT 7: 62,027,592 (GRCm39) probably benign Het
Mdga1 A T 17: 30,069,647 (GRCm39) V133E probably damaging Het
Med12l A G 3: 58,998,971 (GRCm39) T644A probably benign Het
Meis1 T A 11: 18,938,357 (GRCm39) D218V probably damaging Het
Myo15b A G 11: 115,768,970 (GRCm39) E1439G Het
Naa12 T C 18: 80,254,874 (GRCm39) V56A possibly damaging Het
Nckipsd G A 9: 108,691,280 (GRCm39) V401I probably benign Het
Nrg3 T C 14: 38,092,669 (GRCm39) I655V probably damaging Het
Oprm1 A T 10: 6,778,919 (GRCm39) I107F probably damaging Het
Or4k42 A C 2: 111,319,933 (GRCm39) I190R probably benign Het
Or52n3 A T 7: 104,530,057 (GRCm39) I48F probably benign Het
Or5p51 T C 7: 107,444,721 (GRCm39) D73G probably damaging Het
Osbpl7 T C 11: 96,945,704 (GRCm39) probably null Het
Pcdh18 T G 3: 49,699,232 (GRCm39) S1077R possibly damaging Het
Pcdhb16 A T 18: 37,611,975 (GRCm39) K312* probably null Het
Plekhh2 A T 17: 84,873,724 (GRCm39) E336D probably benign Het
Ptprd A T 4: 76,165,076 (GRCm39) S49T probably benign Het
Pxdn A G 12: 30,052,927 (GRCm39) I1035V probably benign Het
Rlf C T 4: 121,007,297 (GRCm39) G671D probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,128 (GRCm39) probably benign Het
Selenbp2 A G 3: 94,607,404 (GRCm39) Q275R probably benign Het
Slc10a1 G T 12: 81,007,396 (GRCm39) F128L probably benign Het
Slitrk1 A T 14: 109,149,357 (GRCm39) Y451* probably null Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Stambpl1 G C 19: 34,204,116 (GRCm39) G69R probably damaging Het
Surf4 G T 2: 26,814,455 (GRCm39) R149S probably benign Het
Tmem151a T C 19: 5,132,702 (GRCm39) Y168C probably damaging Het
Ttc39c A G 18: 12,861,746 (GRCm39) K416R possibly damaging Het
Tut4 T C 4: 108,406,533 (GRCm39) I1367T possibly damaging Het
Vit T C 17: 78,932,309 (GRCm39) I472T probably damaging Het
Vmn1r212 A C 13: 23,067,718 (GRCm39) L205R probably damaging Het
Wscd2 T C 5: 113,715,402 (GRCm39) I414T probably benign Het
Zfp1005 A C 2: 150,108,081 (GRCm39) T14P possibly damaging Het
Other mutations in Ddi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Ddi1 APN 9 6,265,773 (GRCm39) missense probably damaging 0.97
IGL01977:Ddi1 APN 9 6,266,226 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- AGATGAACGCGGCCCATAATC -3'
(R):5'- TGCTTAGTGGAAACCTTGAGAC -3'

Sequencing Primer
(F):5'- GCGGCCCATAATCCTCTGTG -3'
(R):5'- AGACATTTTCTCAGGTCCTGATG -3'
Posted On 2019-10-07