Incidental Mutation 'R3906:Ddi2'
ID474494
Institutional Source Beutler Lab
Gene Symbol Ddi2
Ensembl Gene ENSMUSG00000078515
Gene NameDNA-damage inducible protein 2
Synonyms
MMRRC Submission 040813-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.917) question?
Stock #R3906 (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 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 39 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
Ank2 A G 3: 127,016,898 L513P probably damaging Het
Cacng1 C A 11: 107,716,292 V34L probably benign Het
Cd1d1 A G 3: 86,998,756 W71R probably damaging Het
Cdhr3 A G 12: 33,053,428 F397L probably damaging Het
Ces2a A G 8: 104,739,308 I325V probably benign Het
Ctsq C T 13: 61,038,771 V140M probably damaging Het
Cyp4f18 A G 8: 72,001,082 probably benign Het
Dsg3 G A 18: 20,538,499 G754R probably damaging Het
Endod1 T A 9: 14,380,855 Y39F probably benign Het
F11 A G 8: 45,248,638 S353P probably damaging Het
Fn1 C T 1: 71,607,913 G1482R probably damaging Het
Fpr2 A G 17: 17,893,549 K269R probably benign Het
Frk T G 10: 34,584,056 L216V probably benign Het
Gan G A 8: 117,194,134 V370M probably damaging Het
Grik1 A G 16: 88,006,449 I285T probably benign Het
Hspa1a C T 17: 34,971,727 V67M probably damaging Het
Kbtbd8 T A 6: 95,126,584 Y405N probably damaging Het
Kcnj4 G T 15: 79,485,745 H11Q probably benign Het
Kif26a T A 12: 112,176,890 S1193T probably benign Het
Kmt2e A G 5: 23,501,626 N1396D probably benign Het
Lasp1 G A 11: 97,799,827 V12M probably damaging Het
Lrrk1 G T 7: 66,294,903 T653K possibly damaging Het
Meiob A G 17: 24,827,948 Y182C probably benign Het
Myh6 T C 14: 54,956,955 D739G probably benign Het
Ninl T C 2: 150,980,119 D21G probably damaging Het
Olfr1504 C T 19: 13,887,706 C168Y probably damaging Het
Olfr743 C T 14: 50,533,754 T114I probably benign Het
Pacsin2 A C 15: 83,379,055 V125G probably damaging Het
Pfas G A 11: 68,988,286 probably benign Het
Pla2g4f C T 2: 120,300,499 R825Q probably benign Het
Prkd1 A T 12: 50,388,426 V506E possibly damaging Het
Psmd2 A G 16: 20,655,642 D316G probably benign Het
Ryr2 T A 13: 11,738,209 D1742V possibly damaging Het
Szt2 G A 4: 118,378,269 probably benign Het
Ugt8a T C 3: 125,914,982 T160A possibly damaging Het
Xrcc6 A G 15: 82,029,571 T378A probably benign 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
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
T0722:Ddi2 UTSW 4 141713473 start gained probably benign
Predicted Primers
Posted On2017-04-14