Incidental Mutation 'R5874:Ddi2'
ID 455370
Institutional Source Beutler Lab
Gene Symbol Ddi2
Ensembl Gene ENSMUSG00000078515
Gene Name DNA-damage inducible protein 2
Synonyms 1110056G13Rik, 1700027M01Rik, 9130022E05Rik
MMRRC Submission 044081-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R5874 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 141410874-141450730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141422780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 311 (S311P)
Ref Sequence ENSEMBL: ENSMUSP00000099542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102484] [ENSMUST00000177592]
AlphaFold A2ADY9
Predicted Effect probably damaging
Transcript: ENSMUST00000102484
AA Change: S311P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099542
Gene: ENSMUSG00000078515
AA Change: S311P

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
Meta Mutation Damage Score 0.6369 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency 98% (86/88)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G A 7: 29,280,610 (GRCm39) noncoding transcript Het
Adam17 T C 12: 21,379,087 (GRCm39) D654G possibly damaging Het
Ankhd1 A T 18: 36,773,322 (GRCm39) H1373L possibly damaging Het
Ankrd17 T C 5: 90,416,656 (GRCm39) probably benign Het
Calu A G 6: 29,372,617 (GRCm39) D112G probably damaging Het
Camk2a G C 18: 61,076,272 (GRCm39) probably benign Het
Cpn1 C A 19: 43,944,951 (GRCm39) R452L probably benign Het
Csmd3 T A 15: 47,507,666 (GRCm39) E2780V probably damaging Het
Ctnna2 T C 6: 76,879,413 (GRCm39) T824A probably benign Het
Cuedc2 C T 19: 46,319,824 (GRCm39) V164M possibly damaging Het
Cyp2d34 T A 15: 82,503,243 (GRCm39) D74V probably benign Het
Ddx10 A C 9: 53,140,498 (GRCm39) I301R possibly damaging Het
Dmpk T C 7: 18,826,007 (GRCm39) probably benign Het
Dnah7b C T 1: 46,230,885 (GRCm39) T1381I probably damaging Het
Dst T A 1: 34,218,670 (GRCm39) N1703K probably damaging Het
Dtwd1 T A 2: 126,000,359 (GRCm39) H98Q probably damaging Het
Ecel1 A C 1: 87,075,731 (GRCm39) V769G probably benign Het
Eno4 T C 19: 58,935,238 (GRCm39) V150A probably benign Het
Evc2 C T 5: 37,574,883 (GRCm39) probably benign Het
Ext1 T A 15: 52,965,148 (GRCm39) Q406L possibly damaging Het
Foxf2 A G 13: 31,810,775 (GRCm39) H238R probably benign Het
Frem2 C G 3: 53,444,910 (GRCm39) G2407A probably benign Het
Fzd10 A G 5: 128,678,364 (GRCm39) E28G probably benign Het
Galnt15 T C 14: 31,774,324 (GRCm39) F363L probably damaging Het
Gm1758 C T 16: 14,325,037 (GRCm39) noncoding transcript Het
Gm5866 C T 5: 52,739,956 (GRCm39) noncoding transcript Het
Heatr9 T A 11: 83,405,426 (GRCm39) M345L probably benign Het
Il23r A T 6: 67,408,629 (GRCm39) F404Y possibly damaging Het
Lrrc8a T C 2: 30,147,148 (GRCm39) I654T probably damaging Het
Napg A T 18: 63,111,091 (GRCm39) K18* probably null Het
Ndst3 A T 3: 123,355,556 (GRCm39) W573R probably damaging Het
Nin T C 12: 70,077,692 (GRCm39) S1038G possibly damaging Het
Nudt12 T A 17: 59,317,279 (GRCm39) R123* probably null Het
Oas1g T A 5: 121,015,081 (GRCm39) N361Y probably benign Het
Or5p51 T A 7: 107,444,377 (GRCm39) I188L probably benign Het
Or7a35 T A 10: 78,853,191 (GRCm39) F12I possibly damaging Het
Or8h10 A T 2: 86,808,786 (GRCm39) M118K probably damaging Het
Osbpl10 T C 9: 115,055,828 (GRCm39) F667L probably damaging Het
Phldb2 T C 16: 45,621,988 (GRCm39) D664G probably damaging Het
Piezo2 C T 18: 63,160,972 (GRCm39) V2263M probably damaging Het
Pkd1l1 A G 11: 8,858,688 (GRCm39) L615P probably damaging Het
Pnpla7 G A 2: 24,901,661 (GRCm39) M562I probably benign Het
Pou2af2 A T 9: 51,201,672 (GRCm39) L128* probably null Het
Ppp1r13b C A 12: 111,811,423 (GRCm39) R155L probably damaging Het
Pygb C T 2: 150,628,798 (GRCm39) P4L probably benign Het
Rbm44 T C 1: 91,084,562 (GRCm39) probably null Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Rin3 A G 12: 102,356,102 (GRCm39) Y801C probably damaging Het
Rnf112 A G 11: 61,340,273 (GRCm39) V619A probably damaging Het
Rnf182 A G 13: 43,821,563 (GRCm39) E38G probably benign Het
Scgb2b24 T A 7: 33,436,830 (GRCm39) Y94F probably damaging Het
Serac1 C A 17: 6,094,188 (GRCm39) probably benign Het
Shld2 T C 14: 33,967,215 (GRCm39) T114A probably benign Het
Slc6a19 A T 13: 73,832,487 (GRCm39) V402D probably damaging Het
Slco1a8 A T 6: 141,917,961 (GRCm39) H638Q probably benign Het
Slco2b1 T A 7: 99,316,301 (GRCm39) M410L probably benign Het
Smarca2 T C 19: 26,753,469 (GRCm39) probably benign Het
Sned1 A G 1: 93,193,067 (GRCm39) Y409C probably damaging Het
Sorcs2 A G 5: 36,386,555 (GRCm39) V161A probably damaging Het
Spring1 T C 5: 118,397,504 (GRCm39) V162A probably damaging Het
Sptb T C 12: 76,645,501 (GRCm39) E2029G possibly damaging Het
Stx7 T A 10: 24,058,659 (GRCm39) probably null Het
Taf4b T C 18: 14,937,611 (GRCm39) V228A probably benign Het
Tbc1d1 A G 5: 64,507,273 (GRCm39) *1163W probably null Het
Tor4a G A 2: 25,084,847 (GRCm39) A352V probably damaging Het
Trpm4 A G 7: 44,977,173 (GRCm39) F81S probably damaging Het
Ttn T A 2: 76,780,436 (GRCm39) D1105V probably damaging Het
Vcf1 T A 11: 113,568,220 (GRCm39) R78S probably damaging Het
Yju2b T A 8: 84,985,177 (GRCm39) D364V possibly damaging Het
Zfp551 A G 7: 12,150,101 (GRCm39) L436P probably damaging Het
Zfp975 G T 7: 42,312,312 (GRCm39) D100E probably benign Het
Zswim3 A G 2: 164,662,032 (GRCm39) I171V probably benign Het
Zwint C T 10: 72,492,294 (GRCm39) probably benign Het
Other mutations in Ddi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Ddi2 APN 4 141,422,709 (GRCm39) splice site probably benign
IGL02012:Ddi2 APN 4 141,435,529 (GRCm39) critical splice donor site probably null
IGL02281:Ddi2 APN 4 141,419,730 (GRCm39) missense probably benign 0.18
IGL02395:Ddi2 APN 4 141,422,725 (GRCm39) missense possibly damaging 0.86
IGL03103:Ddi2 APN 4 141,430,479 (GRCm39) missense probably damaging 1.00
IGL03220:Ddi2 APN 4 141,435,767 (GRCm39) missense probably benign
R0350:Ddi2 UTSW 4 141,412,834 (GRCm39) missense probably benign 0.30
R0467:Ddi2 UTSW 4 141,412,495 (GRCm39) missense probably benign 0.02
R0577:Ddi2 UTSW 4 141,411,818 (GRCm39) missense possibly damaging 0.50
R1706:Ddi2 UTSW 4 141,411,308 (GRCm39) missense probably benign 0.00
R1801:Ddi2 UTSW 4 141,411,283 (GRCm39) missense probably damaging 0.96
R1839:Ddi2 UTSW 4 141,440,837 (GRCm39) missense probably benign 0.08
R1878:Ddi2 UTSW 4 141,411,460 (GRCm39) missense probably benign 0.08
R2113:Ddi2 UTSW 4 141,430,591 (GRCm39) splice site probably null
R3906:Ddi2 UTSW 4 141,411,592 (GRCm39) missense probably benign 0.05
R3907:Ddi2 UTSW 4 141,411,592 (GRCm39) missense probably benign 0.05
R3908:Ddi2 UTSW 4 141,411,592 (GRCm39) missense probably benign 0.05
R4911:Ddi2 UTSW 4 141,411,713 (GRCm39) missense probably benign 0.28
R5296:Ddi2 UTSW 4 141,412,076 (GRCm39) missense probably benign 0.01
R5383:Ddi2 UTSW 4 141,412,163 (GRCm39) missense probably damaging 1.00
R5768:Ddi2 UTSW 4 141,412,901 (GRCm39) missense probably damaging 1.00
R6359:Ddi2 UTSW 4 141,411,899 (GRCm39) missense probably damaging 0.99
R6603:Ddi2 UTSW 4 141,411,181 (GRCm39) missense probably damaging 1.00
R6991:Ddi2 UTSW 4 141,412,561 (GRCm39) missense probably benign 0.22
R7108:Ddi2 UTSW 4 141,433,248 (GRCm39) missense probably benign
R7838:Ddi2 UTSW 4 141,412,561 (GRCm39) missense probably benign 0.22
R8935:Ddi2 UTSW 4 141,412,600 (GRCm39) missense probably damaging 0.97
R9015:Ddi2 UTSW 4 141,412,747 (GRCm39) missense probably benign 0.00
R9095:Ddi2 UTSW 4 141,419,590 (GRCm39) missense probably benign 0.03
R9709:Ddi2 UTSW 4 141,412,429 (GRCm39) missense probably benign 0.25
R9711:Ddi2 UTSW 4 141,422,734 (GRCm39) missense probably benign 0.20
R9760:Ddi2 UTSW 4 141,411,196 (GRCm39) missense probably damaging 1.00
T0722:Ddi2 UTSW 4 141,440,784 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TAGAGACACAGCTCCAGTGCTC -3'
(R):5'- TAACAGTAGCTCCGTCCAGTC -3'

Sequencing Primer
(F):5'- AAAGTCTTTCACGTGCAGGC -3'
(R):5'- GTAGCTCCGTCCAGTCCACTTC -3'
Posted On 2017-02-10