Incidental Mutation 'R3950:Dera'
ID 307862
Institutional Source Beutler Lab
Gene Symbol Dera
Ensembl Gene ENSMUSG00000030225
Gene Name deoxyribose-phosphate aldolase (putative)
Synonyms 2010002D22Rik, 2500002K03Rik
MMRRC Submission 040930-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R3950 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 137754546-137857340 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137837120 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 100 (Y100C)
Ref Sequence ENSEMBL: ENSMUSP00000145264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087675] [ENSMUST00000203216] [ENSMUST00000203693]
AlphaFold Q91YP3
Predicted Effect probably damaging
Transcript: ENSMUST00000087675
AA Change: Y302C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084959
Gene: ENSMUSG00000030225
AA Change: Y302C

DomainStartEndE-ValueType
DeoC 49 299 1.16e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203216
AA Change: Y100C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145264
Gene: ENSMUSG00000030225
AA Change: Y100C

DomainStartEndE-ValueType
Pfam:DeoC 2 97 1e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000203507
AA Change: Y57C
Predicted Effect probably benign
Transcript: ENSMUST00000203693
SMART Domains Protein: ENSMUSP00000144935
Gene: ENSMUSG00000030225

DomainStartEndE-ValueType
DeoC 49 271 4.4e-50 SMART
Predicted Effect unknown
Transcript: ENSMUST00000204356
AA Change: Y79C
Predicted Effect probably benign
Transcript: ENSMUST00000204723
Predicted Effect unknown
Transcript: ENSMUST00000204779
AA Change: Y135C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205060
Meta Mutation Damage Score 0.3232 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,664,403 probably null Het
Ahnak2 A T 12: 112,785,789 I186N probably damaging Het
Appbp2 A G 11: 85,194,706 I458T probably damaging Het
Arhgef25 T C 10: 127,185,144 Y291C probably damaging Het
Ate1 T C 7: 130,467,292 Y415C probably damaging Het
B4galt4 G T 16: 38,768,022 A72S probably benign Het
C3 T C 17: 57,225,286 R178G probably benign Het
Cdh23 T C 10: 60,657,326 Y3C probably benign Het
Col11a1 T C 3: 114,121,445 probably null Het
Col22a1 A G 15: 71,977,358 F294L possibly damaging Het
Dync2h1 A T 9: 7,112,061 Y276* probably null Het
Eea1 A T 10: 96,042,134 N1389I probably damaging Het
Epha4 A T 1: 77,399,716 Y509N probably damaging Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Fezf1 T A 6: 23,247,420 K219* probably null Het
Fsd1 G A 17: 55,995,517 probably null Het
Haspin A G 11: 73,136,395 Y623H probably damaging Het
Hsd3b1 C T 3: 98,856,138 V56M possibly damaging Het
Hyou1 C T 9: 44,385,227 T483I probably damaging Het
Kdm2a A G 19: 4,343,232 L365S possibly damaging Het
Kdm6b G T 11: 69,405,615 P609T probably damaging Het
Klhl18 T A 9: 110,428,902 Y490F probably damaging Het
Ky C T 9: 102,542,428 Q545* probably null Het
L1td1 T C 4: 98,737,353 L595P probably benign Het
Map3k20 T G 2: 72,438,300 I550M probably damaging Het
Mug1 T A 6: 121,878,530 V941E probably damaging Het
Ndst1 T C 18: 60,697,139 N633S probably benign Het
Ninl A T 2: 150,952,488 I740K possibly damaging Het
Npepl1 A G 2: 174,121,113 N431D probably damaging Het
Olfr1128 T C 2: 87,545,065 T160A probably damaging Het
Pacs2 T C 12: 113,061,113 S408P probably damaging Het
Pard6b C T 2: 168,099,194 T367I probably damaging Het
Pcdhga7 A G 18: 37,716,515 E525G probably damaging Het
Pctp A G 11: 89,987,318 I130T probably benign Het
Pcx C T 19: 4,617,967 H506Y probably benign Het
Pdhx A G 2: 103,035,241 S199P probably damaging Het
Pdia2 C A 17: 26,197,616 probably null Het
Pif1 C A 9: 65,591,834 N445K probably damaging Het
Prickle4 T C 17: 47,688,582 K349E probably benign Het
Ptch1 T G 13: 63,524,959 E944A probably benign Het
Ptpdc1 A T 13: 48,589,194 M173K probably damaging Het
Rb1 A G 14: 73,262,662 L515P probably damaging Het
Rcvrn A G 11: 67,700,051 K154E probably damaging Het
Ros1 C T 10: 52,066,388 V2059I probably damaging Het
Rtn4ip1 T A 10: 43,909,897 probably null Het
Sema5a T C 15: 32,689,338 Y1050H probably damaging Het
Slc25a28 C T 19: 43,664,269 V318I probably benign Het
Srek1 G A 13: 103,744,895 R408W unknown Het
Synrg C T 11: 83,989,815 T444I probably damaging Het
Ticrr T C 7: 79,682,069 L776S probably damaging Het
Tmem127 T C 2: 127,248,657 L31P probably damaging Het
Tmprss15 T A 16: 79,073,186 T190S probably benign Het
Trip10 T A 17: 57,253,411 probably null Het
Ttc6 A G 12: 57,649,506 Y31C probably damaging Het
Unc80 A T 1: 66,622,570 H1718L possibly damaging Het
Zbtb38 A G 9: 96,687,546 F495S probably damaging Het
Zfp280d G T 9: 72,296,019 Q16H possibly damaging Het
Zfp521 A G 18: 13,846,346 S337P probably damaging Het
Zswim9 T A 7: 13,261,577 T218S possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- AGAACTGAGCGAGTCTCCAC -3'
(R):5'- AGATTCAGCTGGTTTGTTTCCC -3'

Sequencing Primer
(F):5'- TCCACCTCCTGCAAGGGAAG -3'
(R):5'- AGTTGATTTCAGGGGAGATTTTAATG -3'
Posted On 2015-04-17