Incidental Mutation 'R0577:Ddi2'
ID 56258
Institutional Source Beutler Lab
Gene Symbol Ddi2
Ensembl Gene ENSMUSG00000078515
Gene Name DNA-damage inducible protein 2
Synonyms 1110056G13Rik, 1700027M01Rik, 9130022E05Rik
MMRRC Submission 038767-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R0577 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 141410874-141450730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141411818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 365 (C365S)
Ref Sequence ENSEMBL: ENSMUSP00000136018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102484] [ENSMUST00000105782] [ENSMUST00000177592]
AlphaFold A2ADY9
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 possibly damaging
Transcript: ENSMUST00000105782
AA Change: C365S

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101408
Gene: ENSMUSG00000040715
AA Change: C365S

DomainStartEndE-ValueType
low complexity region 315 320 N/A INTRINSIC
UBA 538 575 8.12e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000177592
AA Change: C365S

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515
AA Change: C365S

DomainStartEndE-ValueType
low complexity region 315 320 N/A INTRINSIC
UBA 538 575 8.12e-6 SMART
Meta Mutation Damage Score 0.2608 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,769,910 (GRCm39) H336Q probably benign Het
Abcc2 A T 19: 43,807,840 (GRCm39) D827V probably damaging Het
Asph G T 4: 9,604,620 (GRCm39) A139E probably benign Het
Bag3 T C 7: 128,125,611 (GRCm39) M10T probably benign Het
Bod1l T C 5: 41,952,230 (GRCm39) D2894G probably damaging Het
Cdk12 T C 11: 98,094,332 (GRCm39) S47P probably damaging Het
Dchs1 C T 7: 105,413,462 (GRCm39) V1118I possibly damaging Het
Eef1g A G 19: 8,950,406 (GRCm39) D264G probably benign Het
Fbxw17 T C 13: 50,585,619 (GRCm39) L274P probably benign Het
Gpc6 A G 14: 117,673,420 (GRCm39) T226A probably benign Het
Klf12 T A 14: 100,260,585 (GRCm39) Y48F probably damaging Het
Klhdc4 C T 8: 122,548,090 (GRCm39) A67T probably damaging Het
Macir C T 1: 97,589,551 (GRCm39) probably null Het
Madd C T 2: 90,968,740 (GRCm39) E1596K possibly damaging Het
Mov10l1 A G 15: 88,889,930 (GRCm39) Y533C probably damaging Het
Mtif2 G T 11: 29,490,862 (GRCm39) probably null Het
Mtmr6 G A 14: 60,534,087 (GRCm39) V442I possibly damaging Het
Or4k15b C T 14: 50,272,249 (GRCm39) G204R probably damaging Het
Or5ac23 A T 16: 59,149,061 (GRCm39) D270E probably benign Het
Or9i16 T C 19: 13,865,167 (GRCm39) T136A probably damaging Het
Pdcd11 A G 19: 47,087,271 (GRCm39) N277S probably benign Het
Pias2 A T 18: 77,184,977 (GRCm39) L12F probably damaging Het
Potefam1 G T 2: 111,024,694 (GRCm39) Q57K probably benign Het
Rnf213 G T 11: 119,334,106 (GRCm39) R3105L probably damaging Het
Rps11 A G 7: 44,772,274 (GRCm39) V111A probably benign Het
Rrs1 C A 1: 9,616,026 (GRCm39) probably null Het
Thsd7a T C 6: 12,321,047 (GRCm39) T1543A possibly damaging Het
Vmn2r86 C A 10: 130,288,444 (GRCm39) R352S probably benign Het
Zfp141 T C 7: 42,125,938 (GRCm39) N178S probably benign Het
Zfp955a A T 17: 33,461,068 (GRCm39) F355I probably damaging 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
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
R5874:Ddi2 UTSW 4 141,422,780 (GRCm39) missense probably damaging 0.97
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'- GTGGATGCTTCATCTTCTACCGCAG -3'
(R):5'- CCTAGTGTAGCACATCTCGCTTCAG -3'

Sequencing Primer
(F):5'- TTCTACCGCAGCACAAGGG -3'
(R):5'- GAGCCTGTGGAACATTCCATC -3'
Posted On 2013-07-11