Incidental Mutation 'I0000:Ddias'
ID17531
Institutional Source Beutler Lab
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 #I0000 (G3) of strain 635
Quality Score
Status Validated
Chromosome7
Chromosomal Location92857525-92874247 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92866640 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 15 (V15A)
Ref Sequence ENSEMBL: ENSMUSP00000032877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032877] [ENSMUST00000208356] [ENSMUST00000209074]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032877
AA Change: V15A

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032877
Gene: ENSMUSG00000030641
AA Change: V15A

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 possibly damaging
Transcript: ENSMUST00000208356
AA Change: V15A

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000209074
AA Change: V15A

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
Meta Mutation Damage Score 0.0568 question?
Coding Region Coverage
  • 1x: 90.9%
  • 3x: 86.6%
Validation Efficiency 67% (62/92)
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,238,655 V1933A probably damaging Het
Acsm4 T A 7: 119,711,192 F467I probably damaging Het
Ankrd55 A T 13: 112,348,725 probably benign Het
Bfsp1 T C 2: 143,845,968 Y179C probably damaging Het
Ccdc61 A G 7: 18,903,549 I51T probably damaging Het
Ccdc81 A G 7: 89,898,051 L43P probably damaging Het
Dpp6 A T 5: 27,398,922 T62S probably benign Het
Ereg G A 5: 91,089,209 C129Y probably benign Het
Fras1 G A 5: 96,740,829 G2745S probably damaging Het
Gzf1 C T 2: 148,686,620 probably benign Het
Herc2 T A 7: 56,136,729 probably benign Het
Hsd17b4 A G 18: 50,160,228 D278G probably benign Homo
Ifitm3 A G 7: 141,010,528 S40P possibly damaging Het
Klf5 C T 14: 99,303,475 T307M probably damaging Homo
Lnpep A T 17: 17,578,971 C141S probably damaging Homo
Mmp19 A T 10: 128,798,460 D362V probably benign Het
Olfr1245 T C 2: 89,575,153 Y191C probably damaging Het
Pnpla6 G A 8: 3,542,322 A1222T probably benign Het
Rbm26 C A 14: 105,153,567 R161L unknown Homo
Selenon G A 4: 134,542,701 probably benign Het
Sept11 A G 5: 93,165,259 T322A probably benign Het
Sh3bp4 T A 1: 89,137,796 D37E probably benign Het
Tango2 G A 16: 18,312,666 R80W possibly damaging Homo
Tjap1 C T 17: 46,259,029 C345Y probably damaging Homo
Wdr62 T C 7: 30,245,327 D455G probably benign Het
Zbtb48 A G 4: 152,019,858 I671T probably benign Het
Zfp318 T C 17: 46,399,559 L736P probably damaging Homo
Other mutations in Ddias
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02727:Ddias APN 7 92866622 missense probably damaging 0.98
IGL02820:Ddias APN 7 92859343 missense probably benign 0.07
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 On2013-01-31