Incidental Mutation 'R4950:Ddi1'
ID 381922
Institutional Source Beutler Lab
Gene Symbol Ddi1
Ensembl Gene ENSMUSG00000047619
Gene Name DNA-damage inducible 1
Synonyms 1700011N24Rik
MMRRC Submission 042547-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R4950 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 6265028-6266547 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6266073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 99 (S99P)
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: S99P

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000053223
Gene: ENSMUSG00000047619
AA Change: S99P

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifb9b A T 2: 154,153,579 (GRCm39) D215V probably damaging Het
Cacna1i A G 15: 80,252,872 (GRCm39) E625G probably damaging Het
Cage1 C T 13: 38,207,302 (GRCm39) S181N possibly damaging Het
Ccdc73 A C 2: 104,822,711 (GRCm39) I887L probably benign Het
Cfap65 T A 1: 74,945,495 (GRCm39) K1408* probably null Het
Cngb1 C A 8: 95,975,135 (GRCm39) G654W probably damaging Het
Cxcl15 A T 5: 90,943,104 (GRCm39) E35D possibly damaging Het
Disp3 A T 4: 148,342,583 (GRCm39) D622E possibly damaging Het
Dnajc22 G A 15: 98,999,615 (GRCm39) V267I probably benign Het
Dph5 G A 3: 115,722,292 (GRCm39) G257S probably benign Het
Elmo2 A T 2: 165,156,733 (GRCm39) probably null Het
Fam186a T C 15: 99,839,534 (GRCm39) R2237G unknown Het
Fez1 G A 9: 36,779,178 (GRCm39) R285Q probably damaging Het
Fsip2 A T 2: 82,777,276 (GRCm39) H101L probably damaging Het
Fsip2 G A 2: 82,807,758 (GRCm39) C1359Y probably benign Het
Fxyd7 G A 7: 30,746,815 (GRCm39) T15I probably benign Het
Gpr155 A T 2: 73,212,529 (GRCm39) D31E probably benign Het
Iho1 A C 9: 108,298,709 (GRCm39) S36R probably damaging Het
Irx6 A T 8: 93,405,428 (GRCm39) Y432F probably damaging Het
Itih5 A C 2: 10,239,892 (GRCm39) I340L probably damaging Het
Lao1 T C 4: 118,822,572 (GRCm39) L164S probably damaging Het
Mcoln3 T C 3: 145,845,274 (GRCm39) I490T probably damaging Het
Mef2b T C 8: 70,619,846 (GRCm39) Y311H probably damaging Het
Mras A T 9: 99,276,537 (GRCm39) L111Q probably damaging Het
Mrc1 A G 2: 14,276,091 (GRCm39) D475G probably damaging Het
Nrcam T C 12: 44,645,273 (GRCm39) I1155T probably damaging Het
Ntrk1 A G 3: 87,696,918 (GRCm39) probably null Het
Or7e165 G A 9: 19,695,027 (GRCm39) M199I probably benign Het
Or8b38 T C 9: 37,973,297 (GRCm39) I227T probably damaging Het
Parp9 A T 16: 35,768,377 (GRCm39) I186F probably damaging Het
Pcdhac2 T A 18: 37,278,283 (GRCm39) V421E probably benign Het
Pck1 T A 2: 172,996,620 (GRCm39) I178K probably benign Het
Pde6b A G 5: 108,578,569 (GRCm39) K836E probably benign Het
Ptprd T A 4: 76,058,752 (GRCm39) probably null Het
Pwp2 A G 10: 78,018,840 (GRCm39) Y56H probably benign Het
Rarb G A 14: 16,432,085 (GRCm38) probably benign Het
Rpain C G 11: 70,861,747 (GRCm39) H50Q probably benign Het
Rps9 CTGTTTG CTG 7: 3,707,758 (GRCm39) probably null Het
Rubcn A T 16: 32,663,563 (GRCm39) S358T probably damaging Het
Ryr2 G A 13: 11,756,897 (GRCm39) R1586C probably damaging Het
Slfn9 T C 11: 82,872,730 (GRCm39) I669V probably benign Het
Slx1b T C 7: 126,290,939 (GRCm39) probably benign Het
Spsb3 T A 17: 25,106,485 (GRCm39) probably benign Het
Tbx15 A G 3: 99,233,700 (GRCm39) I288V possibly damaging Het
Tlr2 C A 3: 83,744,639 (GRCm39) E481D probably damaging Het
Trim17 A T 11: 58,861,254 (GRCm39) D253V probably damaging Het
Trim69 A G 2: 122,009,227 (GRCm39) D429G probably damaging Het
Vstm5 A G 9: 15,169,090 (GRCm39) probably null Het
Vwa3b A G 1: 37,124,413 (GRCm39) Q337R probably benign Het
Zfp113 T C 5: 138,143,734 (GRCm39) N172S probably benign Het
Zfp607a T A 7: 27,578,176 (GRCm39) H415Q probably damaging Het
Zfp87 G A 13: 67,666,018 (GRCm39) T148I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATGCTTCGAATCAGGGCAGG -3'
(R):5'- TCAACCCTGACTTTGAGCTC -3'

Sequencing Primer
(F):5'- AATCAGGGCAGGGCTGTC -3'
(R):5'- TGAGCTCTCAAACTTCAGAGTC -3'
Posted On 2016-04-27