Incidental Mutation 'R3908:Ddi2'
ID474641
Institutional Source Beutler Lab
Gene Symbol Ddi2
Ensembl Gene ENSMUSG00000078515
Gene NameDNA-damage inducible protein 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.910) question?
Stock #R3908 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location141677549-141723419 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 141684281 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 440 (D440G)
Ref Sequence ENSEMBL: ENSMUSP00000136018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102484] [ENSMUST00000105782] [ENSMUST00000177592]
Predicted Effect probably benign
Transcript: ENSMUST00000102484
SMART Domains Protein: ENSMUSP00000099542
Gene: ENSMUSG00000078515

DomainStartEndE-ValueType
Pfam:ubiquitin 10 79 3.1e-9 PFAM
low complexity region 177 189 N/A INTRINSIC
Pfam:Asp_protease 212 335 9.2e-65 PFAM
Pfam:RVP_2 219 348 3.7e-8 PFAM
Pfam:RVP 236 335 3.5e-8 PFAM
Pfam:Asp_protease_2 238 326 2.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105782
AA Change: D440G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101408
Gene: ENSMUSG00000040715
AA Change: D440G

DomainStartEndE-ValueType
low complexity region 315 320 N/A INTRINSIC
UBA 538 575 8.12e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177592
AA Change: D440G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515
AA Change: D440G

DomainStartEndE-ValueType
low complexity region 315 320 N/A INTRINSIC
UBA 538 575 8.12e-6 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,067,151 V1352A possibly damaging Het
Abcb7 G T X: 104,284,159 Q715K probably benign Het
Adamts3 C A 5: 89,861,355 G150C probably damaging Het
Cacng1 C A 11: 107,716,292 V34L probably benign Het
Esp34 A G 17: 38,559,641 D74G possibly damaging Het
Fanci T C 7: 79,433,509 V748A possibly damaging Het
Fat1 G C 8: 45,023,035 R1706T probably benign Het
Hspa1a C T 17: 34,971,727 V67M probably damaging Het
Il22 C T 10: 118,205,624 R81* probably null Het
Jak2 T A 19: 29,291,273 L583Q probably damaging Het
Kcnj4 G T 15: 79,485,745 H11Q probably benign Het
Kif11 A G 19: 37,390,721 I287V probably damaging Het
Lasp1 G A 11: 97,799,827 V12M probably damaging Het
Matr3 C T 18: 35,572,841 P273L probably damaging Het
Mpp4 T A 1: 59,149,037 H183L probably damaging Het
Mum1 T C 10: 80,238,316 V401A probably damaging Het
Myh10 T C 11: 68,771,059 probably null Het
Olfr652 T C 7: 104,564,641 I140T probably benign Het
Ppp1r12b A G 1: 134,842,732 S617P probably damaging Het
Psmb1 T C 17: 15,490,281 Y2C probably damaging Het
Serpinb9f A G 13: 33,327,936 T141A probably damaging Het
Slc38a4 T C 15: 97,012,994 probably null Het
Vmn2r9 C A 5: 108,847,919 A288S probably benign Het
Zbtb12 A T 17: 34,896,268 probably null Het
Other mutations in Ddi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Ddi2 APN 4 141695398 splice site probably benign
IGL02012:Ddi2 APN 4 141708218 critical splice donor site probably null
IGL02281:Ddi2 APN 4 141692419 missense probably benign 0.18
IGL02395:Ddi2 APN 4 141695414 missense possibly damaging 0.86
IGL03103:Ddi2 APN 4 141703168 missense probably damaging 1.00
IGL03220:Ddi2 APN 4 141708456 missense probably benign
R0350:Ddi2 UTSW 4 141685523 missense probably benign 0.30
R0467:Ddi2 UTSW 4 141685184 missense probably benign 0.02
R0577:Ddi2 UTSW 4 141684507 missense possibly damaging 0.50
R1706:Ddi2 UTSW 4 141683997 missense probably benign 0.00
R1801:Ddi2 UTSW 4 141683972 missense probably damaging 0.96
R1839:Ddi2 UTSW 4 141713526 missense probably benign 0.08
R1878:Ddi2 UTSW 4 141684149 missense probably benign 0.08
R2113:Ddi2 UTSW 4 141703280 splice site probably null
R3906:Ddi2 UTSW 4 141684281 missense probably benign 0.05
R3907:Ddi2 UTSW 4 141684281 missense probably benign 0.05
R4911:Ddi2 UTSW 4 141684402 missense probably benign 0.28
R5296:Ddi2 UTSW 4 141684765 missense probably benign 0.01
R5383:Ddi2 UTSW 4 141684852 missense probably damaging 1.00
R5768:Ddi2 UTSW 4 141685590 missense probably damaging 1.00
R5874:Ddi2 UTSW 4 141695469 missense probably damaging 0.97
R6359:Ddi2 UTSW 4 141684588 missense probably damaging 0.99
R6603:Ddi2 UTSW 4 141683870 missense probably damaging 1.00
R6991:Ddi2 UTSW 4 141685250 missense probably benign 0.22
R7108:Ddi2 UTSW 4 141705937 missense probably benign
R7838:Ddi2 UTSW 4 141685250 missense probably benign 0.22
T0722:Ddi2 UTSW 4 141713473 start gained probably benign
Predicted Primers
Posted On2017-04-14