Incidental Mutation 'IGL02134:Dera'
ID281230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dera
Ensembl Gene ENSMUSG00000030225
Gene Namedeoxyribose-phosphate aldolase (putative)
Synonyms2010002D22Rik, 2500002K03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02134
Quality Score
Status
Chromosome6
Chromosomal Location137754546-137857340 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 137830271 bp
ZygosityHeterozygous
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]
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: 42,669,690 N168S probably damaging Het
Angptl3 A T 4: 99,031,112 R36S probably damaging Het
Ap5z1 T C 5: 142,474,459 F514L probably benign Het
Arhgef39 C A 4: 43,497,578 probably null Het
Aste1 A G 9: 105,397,844 S11G probably damaging Het
Cadm4 T C 7: 24,499,561 V87A probably benign Het
Cd177 A G 7: 24,752,352 I413T probably benign Het
Col5a2 A G 1: 45,391,070 probably null Het
Ecm1 T C 3: 95,736,187 E283G probably damaging Het
Eml6 G T 11: 29,759,066 H24N probably benign Het
Etl4 A G 2: 20,806,429 K1425E possibly damaging Het
Fgd3 G A 13: 49,296,749 S8L possibly damaging Het
Gli1 T C 10: 127,336,500 E228G probably benign Het
Hivep3 A G 4: 120,133,574 probably benign Het
Iqcc A G 4: 129,619,025 S11P probably damaging Het
Itpkc G A 7: 27,227,875 Q205* probably null Het
Jmjd1c T A 10: 67,220,392 S530R possibly damaging Het
Kcnq1 A G 7: 143,183,716 H257R possibly damaging Het
Kcnt2 G A 1: 140,376,383 V164I probably benign Het
Lgr5 T C 10: 115,452,858 H603R possibly damaging Het
Lrp2 T C 2: 69,513,379 probably null Het
Lrrn2 A G 1: 132,937,817 M207V possibly damaging Het
Miip A G 4: 147,865,278 probably benign Het
Mrps35 T C 6: 147,048,310 probably benign Het
Nuf2 A T 1: 169,513,500 M184K probably benign Het
Olfr113 C T 17: 37,575,358 E22K probably benign Het
Olfr1234 A T 2: 89,362,828 N200K probably damaging Het
Olfr1494 C A 19: 13,749,801 R232S probably benign Het
Olfr452 A G 6: 42,790,464 T142A probably benign Het
Olfr951 A T 9: 39,394,534 I248F probably damaging Het
Os9 T C 10: 127,120,992 I42V possibly damaging Het
Rapgef4 A C 2: 72,180,061 Q177P probably damaging Het
Rhpn2 T C 7: 35,371,111 probably benign Het
Scn5a T C 9: 119,485,892 R1916G probably damaging Het
Serpine1 T A 5: 137,067,035 probably benign Het
Snd1 C T 6: 28,880,279 P684L possibly damaging Het
Tgds T C 14: 118,113,122 N340D probably benign Het
Trpc4 A T 3: 54,315,654 Y706F possibly damaging Het
Ttn T A 2: 76,753,822 D22314V probably damaging Het
Utrn G A 10: 12,643,419 T2263I probably damaging Het
Vmn1r11 A T 6: 57,138,037 T229S possibly damaging Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Zfp219 A G 14: 52,009,301 L78P probably damaging Het
Zfp629 T A 7: 127,611,870 T256S probably benign Het
Other mutations in Dera
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Dera APN 6 137780817 splice site probably null
IGL02449:Dera APN 6 137780817 splice site probably null
IGL03256:Dera APN 6 137779645 missense probably benign 0.00
R0644:Dera UTSW 6 137783048 missense probably benign 0.10
R0691:Dera UTSW 6 137796747 intron probably benign
R0733:Dera UTSW 6 137796848 missense probably damaging 1.00
R1478:Dera UTSW 6 137830195 missense possibly damaging 0.91
R3950:Dera UTSW 6 137837120 missense probably damaging 0.99
R3951:Dera UTSW 6 137837120 missense probably damaging 0.99
R3952:Dera UTSW 6 137837120 missense probably damaging 0.99
R4561:Dera UTSW 6 137780738 missense possibly damaging 0.83
R7687:Dera UTSW 6 137836880 missense
R7956:Dera UTSW 6 137836828 missense probably benign 0.02
Z1088:Dera UTSW 6 137837118 missense possibly damaging 0.87
Posted On2015-04-16