Incidental Mutation 'IGL02134:Dera'
ID 281230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dera
Ensembl Gene ENSMUSG00000030225
Gene Name deoxyribose-phosphate aldolase
Synonyms 2500002K03Rik, 2010002D22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02134
Quality Score
Status
Chromosome 6
Chromosomal Location 137731093-137814894 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137807269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 239 (A239V)
Ref Sequence ENSEMBL: ENSMUSP00000144935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087675] [ENSMUST00000203216] [ENSMUST00000203693]
AlphaFold Q91YP3
Predicted Effect possibly damaging
Transcript: ENSMUST00000087675
AA Change: A239V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084959
Gene: ENSMUSG00000030225
AA Change: A239V

DomainStartEndE-ValueType
DeoC 49 299 1.16e-79 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203216
AA Change: A37V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145264
Gene: ENSMUSG00000030225
AA Change: A37V

DomainStartEndE-ValueType
Pfam:DeoC 2 97 1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203507
Predicted Effect probably damaging
Transcript: ENSMUST00000203693
AA Change: A239V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144935
Gene: ENSMUSG00000030225
AA Change: A239V

DomainStartEndE-ValueType
DeoC 49 271 4.4e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204356
Predicted Effect unknown
Transcript: ENSMUST00000204779
AA Change: A72V
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,980,581 (GRCm39) N168S probably damaging Het
Angptl3 A T 4: 98,919,349 (GRCm39) R36S probably damaging Het
Ap5z1 T C 5: 142,460,214 (GRCm39) F514L probably benign Het
Arhgef39 C A 4: 43,497,578 (GRCm39) probably null Het
Aste1 A G 9: 105,275,043 (GRCm39) S11G probably damaging Het
Cadm4 T C 7: 24,198,986 (GRCm39) V87A probably benign Het
Cd177 A G 7: 24,451,777 (GRCm39) I413T probably benign Het
Col5a2 A G 1: 45,430,230 (GRCm39) probably null Het
Ecm1 T C 3: 95,643,499 (GRCm39) E283G probably damaging Het
Eml6 G T 11: 29,709,066 (GRCm39) H24N probably benign Het
Etl4 A G 2: 20,811,240 (GRCm39) K1425E possibly damaging Het
Fgd3 G A 13: 49,450,225 (GRCm39) S8L possibly damaging Het
Gli1 T C 10: 127,172,369 (GRCm39) E228G probably benign Het
Hivep3 A G 4: 119,990,771 (GRCm39) probably benign Het
Iqcc A G 4: 129,512,818 (GRCm39) S11P probably damaging Het
Itpkc G A 7: 26,927,300 (GRCm39) Q205* probably null Het
Jmjd1c T A 10: 67,056,171 (GRCm39) S530R possibly damaging Het
Kcnq1 A G 7: 142,737,453 (GRCm39) H257R possibly damaging Het
Kcnt2 G A 1: 140,304,121 (GRCm39) V164I probably benign Het
Lgr5 T C 10: 115,288,763 (GRCm39) H603R possibly damaging Het
Lrp2 T C 2: 69,343,723 (GRCm39) probably null Het
Lrrn2 A G 1: 132,865,555 (GRCm39) M207V possibly damaging Het
Miip A G 4: 147,949,735 (GRCm39) probably benign Het
Mrps35 T C 6: 146,949,808 (GRCm39) probably benign Het
Nuf2 A T 1: 169,341,069 (GRCm39) M184K probably benign Het
Or10q1 C A 19: 13,727,165 (GRCm39) R232S probably benign Het
Or14j2 C T 17: 37,886,249 (GRCm39) E22K probably benign Het
Or2f2 A G 6: 42,767,398 (GRCm39) T142A probably benign Het
Or4a15 A T 2: 89,193,172 (GRCm39) N200K probably damaging Het
Or8g32 A T 9: 39,305,830 (GRCm39) I248F probably damaging Het
Os9 T C 10: 126,956,861 (GRCm39) I42V possibly damaging Het
Rapgef4 A C 2: 72,010,405 (GRCm39) Q177P probably damaging Het
Rhpn2 T C 7: 35,070,536 (GRCm39) probably benign Het
Scn5a T C 9: 119,314,958 (GRCm39) R1916G probably damaging Het
Serpine1 T A 5: 137,095,889 (GRCm39) probably benign Het
Snd1 C T 6: 28,880,278 (GRCm39) P684L possibly damaging Het
Tgds T C 14: 118,350,534 (GRCm39) N340D probably benign Het
Trpc4 A T 3: 54,223,075 (GRCm39) Y706F possibly damaging Het
Ttn T A 2: 76,584,166 (GRCm39) D22314V probably damaging Het
Utrn G A 10: 12,519,163 (GRCm39) T2263I probably damaging Het
Vmn1r11 A T 6: 57,115,022 (GRCm39) T229S possibly damaging Het
Zfp142 T G 1: 74,609,022 (GRCm39) H1488P probably damaging Het
Zfp219 A G 14: 52,246,758 (GRCm39) L78P probably damaging Het
Zfp629 T A 7: 127,211,042 (GRCm39) T256S probably benign Het
Other mutations in Dera
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Dera APN 6 137,757,815 (GRCm39) splice site probably null
IGL02449:Dera APN 6 137,757,815 (GRCm39) splice site probably null
IGL03256:Dera APN 6 137,756,643 (GRCm39) missense probably benign 0.00
R0644:Dera UTSW 6 137,760,046 (GRCm39) missense probably benign 0.10
R0691:Dera UTSW 6 137,773,745 (GRCm39) intron probably benign
R0733:Dera UTSW 6 137,773,846 (GRCm39) missense probably damaging 1.00
R1478:Dera UTSW 6 137,807,193 (GRCm39) missense possibly damaging 0.91
R3950:Dera UTSW 6 137,814,118 (GRCm39) missense probably damaging 0.99
R3951:Dera UTSW 6 137,814,118 (GRCm39) missense probably damaging 0.99
R3952:Dera UTSW 6 137,814,118 (GRCm39) missense probably damaging 0.99
R4561:Dera UTSW 6 137,757,736 (GRCm39) missense possibly damaging 0.83
R7687:Dera UTSW 6 137,813,878 (GRCm39) missense
R7956:Dera UTSW 6 137,813,826 (GRCm39) missense probably benign 0.02
R8676:Dera UTSW 6 137,807,202 (GRCm39) missense probably damaging 1.00
R9600:Dera UTSW 6 137,814,135 (GRCm39) missense probably benign 0.04
R9607:Dera UTSW 6 137,833,732 (GRCm39) missense unknown
R9608:Dera UTSW 6 137,813,876 (GRCm39) missense possibly damaging 0.81
Z1088:Dera UTSW 6 137,814,116 (GRCm39) missense possibly damaging 0.87
Posted On 2015-04-16