Incidental Mutation 'IGL02727:Ddias'
ID305266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddias
Ensembl Gene ENSMUSG00000030641
Gene NameDNA damage-induced apoptosis suppressor
Synonymsnoxin, 4632434I11Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02727
Quality Score
Status
Chromosome7
Chromosomal Location92857525-92874247 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 92866622 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 21 (I21K)
Ref Sequence ENSEMBL: ENSMUSP00000146512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032877] [ENSMUST00000208356] [ENSMUST00000209074]
Predicted Effect probably damaging
Transcript: ENSMUST00000032877
AA Change: I21K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032877
Gene: ENSMUSG00000030641
AA Change: I21K

DomainStartEndE-ValueType
Pfam:Rep_fac-A_C 7 118 2.1e-14 PFAM
low complexity region 197 209 N/A INTRINSIC
low complexity region 242 253 N/A INTRINSIC
low complexity region 727 743 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207931
Predicted Effect probably damaging
Transcript: ENSMUST00000208356
AA Change: I21K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209074
AA Change: I21K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,187,565 T13A probably benign Het
Aldh1l2 T A 10: 83,506,605 K447I probably damaging Het
Ankrd17 A G 5: 90,244,292 S1840P possibly damaging Het
Ash1l A G 3: 89,023,037 I1940M probably benign Het
Bfar T G 16: 13,688,927 probably null Het
Bicra G T 7: 15,979,465 H937Q possibly damaging Het
Brip1 A T 11: 86,152,736 M334K probably benign Het
Camsap2 T G 1: 136,304,312 M182L probably benign Het
Ccdc144b T A 3: 36,032,916 R176S possibly damaging Het
Chd6 A T 2: 160,969,463 C1407S probably damaging Het
Cmya5 A G 13: 93,098,245 S112P possibly damaging Het
Csmd1 A T 8: 16,231,327 V728E probably damaging Het
Cyp2j6 T A 4: 96,545,764 Q103L probably benign Het
Derl2 A C 11: 71,013,210 probably benign Het
Dgka A T 10: 128,722,448 probably benign Het
Dusp11 T C 6: 85,961,492 D15G probably damaging Het
Enpp2 T C 15: 54,910,181 D110G probably damaging Het
Fkbp11 A T 15: 98,724,590 V134E probably damaging Het
Gm3248 T C 14: 5,945,036 T49A probably damaging Het
Lrmp T C 6: 145,174,618 S520P possibly damaging Het
Luzp2 T C 7: 55,172,191 probably benign Het
Manea T A 4: 26,328,126 E305V probably damaging Het
Manea C A 4: 26,328,127 E305* probably null Het
Megf6 A G 4: 154,253,149 probably null Het
Mrpl3 G T 9: 105,054,527 D59Y probably damaging Het
Myh9 T C 15: 77,791,742 Y248C probably benign Het
Nbeal2 G A 9: 110,639,285 probably benign Het
Olfr1386 G T 11: 49,471,066 G305V probably benign Het
Olfr161 T A 16: 3,593,326 I310K probably benign Het
Olfr713 G T 7: 107,036,695 C180F probably damaging Het
Olfr889 A G 9: 38,116,512 T239A probably damaging Het
Pax8 C A 2: 24,441,630 C147F probably damaging Het
Phf12 T C 11: 78,023,667 V96A possibly damaging Het
Psg18 A T 7: 18,345,950 I442K probably damaging Het
Pygl T A 12: 70,207,668 probably null Het
Rassf2 C A 2: 132,004,387 R150L probably benign Het
Rdh7 A T 10: 127,887,618 W123R probably damaging Het
Saal1 T C 7: 46,689,799 probably null Het
Sall1 T C 8: 89,030,755 D907G probably damaging Het
Spag1 T A 15: 36,234,818 F876I probably damaging Het
Syncrip G A 9: 88,479,879 A61V probably damaging Het
Trbv3 A T 6: 41,048,642 K55N probably benign Het
Vmn1r178 A G 7: 23,894,446 probably null Het
Vmn2r84 T C 10: 130,394,126 D39G possibly damaging Het
Other mutations in Ddias
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02820:Ddias APN 7 92859343 missense probably benign 0.07
I0000:Ddias UTSW 7 92866640 missense possibly damaging 0.69
R0094:Ddias UTSW 7 92859900 missense possibly damaging 0.61
R0482:Ddias UTSW 7 92859528 missense probably benign 0.41
R0883:Ddias UTSW 7 92859337 missense probably benign
R1131:Ddias UTSW 7 92859886 missense possibly damaging 0.92
R1722:Ddias UTSW 7 92860042 missense possibly damaging 0.63
R1758:Ddias UTSW 7 92859363 missense probably benign 0.03
R1937:Ddias UTSW 7 92858622 missense probably benign 0.07
R2067:Ddias UTSW 7 92859699 missense possibly damaging 0.79
R2124:Ddias UTSW 7 92858256 missense probably benign 0.00
R2483:Ddias UTSW 7 92859592 missense probably benign 0.13
R3623:Ddias UTSW 7 92859592 missense probably benign 0.13
R3690:Ddias UTSW 7 92860158 missense probably benign 0.24
R4015:Ddias UTSW 7 92859861 missense probably benign 0.06
R4021:Ddias UTSW 7 92861478 missense possibly damaging 0.57
R4022:Ddias UTSW 7 92861478 missense possibly damaging 0.57
R4384:Ddias UTSW 7 92858223 missense probably damaging 0.98
R4410:Ddias UTSW 7 92858079 missense probably benign 0.04
R4691:Ddias UTSW 7 92858816 missense probably damaging 0.99
R5653:Ddias UTSW 7 92858729 missense probably damaging 1.00
R6666:Ddias UTSW 7 92858081 missense probably benign
R6853:Ddias UTSW 7 92859565 missense possibly damaging 0.46
X0027:Ddias UTSW 7 92858995 missense probably damaging 0.99
Posted On2015-04-16