Incidental Mutation 'IGL02449:Dera'
ID 294089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dera
Ensembl Gene ENSMUSG00000030225
Gene Name deoxyribose-phosphate aldolase (putative)
Synonyms 2010002D22Rik, 2500002K03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02449
Quality Score
Status
Chromosome 6
Chromosomal Location 137754546-137857340 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 137780817 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000087675] [ENSMUST00000203216] [ENSMUST00000203693]
AlphaFold Q91YP3
Predicted Effect possibly damaging
Transcript: ENSMUST00000087675
AA Change: V122E

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000084959
Gene: ENSMUSG00000030225
AA Change: V122E

DomainStartEndE-ValueType
DeoC 49 299 1.16e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203046
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203136
Predicted Effect probably benign
Transcript: ENSMUST00000203216
SMART Domains Protein: ENSMUSP00000145264
Gene: ENSMUSG00000030225

DomainStartEndE-ValueType
Pfam:DeoC 2 97 1e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203693
AA Change: V122E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144935
Gene: ENSMUSG00000030225
AA Change: V122E

DomainStartEndE-ValueType
DeoC 49 271 4.4e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203754
Predicted Effect probably benign
Transcript: ENSMUST00000204356
Predicted Effect probably null
Transcript: ENSMUST00000204779
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,401,749 probably null Het
Akap6 A G 12: 53,140,188 T1462A probably damaging Het
Arl6ip6 T C 2: 53,192,526 probably benign Het
Ascc3 A T 10: 50,700,599 Q883H probably benign Het
Atp11a T A 8: 12,757,358 probably null Het
Cds1 G A 5: 101,815,928 G371D probably damaging Het
Col12a1 A G 9: 79,641,469 L2198P probably damaging Het
Cyp2d22 C T 15: 82,373,241 G241D probably benign Het
Dapk1 T C 13: 60,719,770 probably benign Het
Efcab6 A G 15: 84,010,033 V186A probably benign Het
Gm9637 T A 14: 19,402,436 noncoding transcript Het
Gpr180 T C 14: 118,160,120 L342P probably damaging Het
Heg1 T C 16: 33,738,725 probably null Het
Kcnab2 C A 4: 152,411,984 probably null Het
Lax1 A G 1: 133,680,136 V289A probably damaging Het
Ly6k T G 15: 74,797,085 D115A probably benign Het
Mcc A C 18: 44,459,958 I670S probably benign Het
Mpdz C A 4: 81,329,422 probably null Het
Mrgprb8 T A 7: 48,388,683 L34* probably null Het
Mtor T A 4: 148,533,921 H1730Q possibly damaging Het
Muc4 C T 16: 32,756,129 probably benign Het
Myh8 T C 11: 67,294,614 probably null Het
Naip5 A T 13: 100,222,175 V851E probably benign Het
Neb T C 2: 52,201,906 I1277V probably benign Het
Nlrp9a T C 7: 26,564,971 M683T probably benign Het
Npr2 A G 4: 43,646,641 Y663C probably damaging Het
Padi3 C T 4: 140,789,712 probably null Het
Pclo A G 5: 14,515,343 D41G probably damaging Het
Pds5a A T 5: 65,619,010 N80K probably damaging Het
Plec C T 15: 76,186,763 D812N possibly damaging Het
Psg20 A T 7: 18,684,408 probably benign Het
Ptch2 C A 4: 117,108,183 L322I possibly damaging Het
Ptprv T C 1: 135,111,336 noncoding transcript Het
Scn2b A G 9: 45,125,514 K107E probably damaging Het
Slc24a4 A C 12: 102,227,082 I226L probably benign Het
Spink4 A G 4: 40,929,190 M72V probably benign Het
Supt16 A T 14: 52,173,806 M676K possibly damaging Het
Svep1 A C 4: 58,070,296 C2497G possibly damaging Het
Tenm2 T A 11: 36,023,622 T2362S probably damaging Het
Tgm3 G T 2: 130,038,609 probably null Het
Trpa1 T A 1: 14,898,157 T462S probably damaging Het
Ucp2 G A 7: 100,498,810 V237M probably damaging Het
Vmn2r53 C A 7: 12,582,361 L510F probably damaging Het
Zan G A 5: 137,389,327 T4874M unknown Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp974 T A 7: 27,911,727 Y191F probably benign Het
Other mutations in Dera
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02134:Dera APN 6 137830271 missense probably damaging 1.00
IGL02220: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
R8676:Dera UTSW 6 137830204 missense probably damaging 1.00
Z1088:Dera UTSW 6 137837118 missense possibly damaging 0.87
Posted On 2015-04-16