Incidental Mutation 'IGL02395:Ddi2'
ID294301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddi2
Ensembl Gene ENSMUSG00000078515
Gene NameDNA-damage inducible protein 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.926) question?
Stock #IGL02395
Quality Score
Status
Chromosome4
Chromosomal Location141677549-141723419 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 141695414 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 329 (R329Q)
Ref Sequence ENSEMBL: ENSMUSP00000099542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102484] [ENSMUST00000177592]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102484
AA Change: R329Q

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099542
Gene: ENSMUSG00000078515
AA Change: R329Q

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: ENSMUST00000177592
SMART Domains Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515

DomainStartEndE-ValueType
low complexity region 315 320 N/A INTRINSIC
UBA 538 575 8.12e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,480,960 C540S probably damaging Het
Cdk5 A G 5: 24,419,637 V252A possibly damaging Het
Dennd2c T A 3: 103,157,765 F678I probably benign Het
Ect2 T C 3: 27,150,106 D18G probably damaging Het
Efcab11 C A 12: 99,854,609 probably null Het
Eri2 T C 7: 119,787,810 E162G probably damaging Het
Fam120b T C 17: 15,402,515 S252P probably damaging Het
Filip1 G A 9: 79,898,410 P21S probably benign Het
Kmt5b T A 19: 3,814,887 D627E probably benign Het
Krt83 T C 15: 101,487,952 D254G probably benign Het
Man1a2 T C 3: 100,644,537 probably null Het
Mapk15 T C 15: 75,998,170 S380P probably benign Het
Mrpl48 G T 7: 100,546,344 probably benign Het
Nme8 T A 13: 19,677,908 I184L possibly damaging Het
Nrk A G X: 138,976,186 E712G probably damaging Het
Olfr1030 A G 2: 85,984,082 T81A possibly damaging Het
Olfr1215 T A 2: 89,002,163 T42S probably benign Het
Olfr1347 C T 7: 6,488,803 V17M possibly damaging Het
Olfr731 C A 14: 50,238,429 G152V probably damaging Het
Plekho1 A T 3: 95,995,564 Y36* probably null Het
Slco1a5 T A 6: 142,275,487 H11L probably damaging Het
Tiam2 T A 17: 3,421,481 M466K possibly damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tnfrsf22 A T 7: 143,643,316 N95K probably damaging Het
Vmn1r90 T C 7: 14,561,897 Y92C probably damaging Het
Zc2hc1a T A 3: 7,528,624 L214* probably null Het
Zcchc17 C A 4: 130,337,127 V90F probably damaging Het
Zcchc7 T C 4: 44,761,868 probably benign Het
Zmiz1 T C 14: 25,656,763 V821A probably damaging 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
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 intron probably null
R3906:Ddi2 UTSW 4 141684281 missense probably benign 0.05
R3907:Ddi2 UTSW 4 141684281 missense probably benign 0.05
R3908: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
R7921:Ddi2 UTSW 4 141685250 missense probably benign 0.22
T0722:Ddi2 UTSW 4 141713473 start gained probably benign
Posted On2015-04-16