Incidental Mutation 'R3952:Dera'
ID 307994
Institutional Source Beutler Lab
Gene Symbol Dera
Ensembl Gene ENSMUSG00000030225
Gene Name deoxyribose-phosphate aldolase
Synonyms 2500002K03Rik, 2010002D22Rik
MMRRC Submission 040829-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3952 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 137731093-137814894 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137814118 bp (GRCm39)
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 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,451,158 (GRCm39) probably benign Het
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Abi3bp C T 16: 56,424,401 (GRCm39) T450I possibly damaging Het
Abl1 A T 2: 31,674,549 (GRCm39) T213S probably damaging Het
Apc2 C T 10: 80,150,318 (GRCm39) R1762W probably damaging Het
Arl2 G T 19: 6,184,707 (GRCm39) T182N probably benign Het
Brd8 C G 18: 34,747,497 (GRCm39) probably benign Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Clca3a2 A G 3: 144,508,822 (GRCm39) Y666H probably damaging Het
Cmya5 A G 13: 93,225,707 (GRCm39) V3127A possibly damaging Het
Copg1 G A 6: 87,882,198 (GRCm39) A598T probably benign Het
Epha1 C A 6: 42,341,219 (GRCm39) L535F probably damaging Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fads2b T C 2: 85,330,548 (GRCm39) probably benign Het
Ggcx G A 6: 72,403,541 (GRCm39) G363R probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kpna1 A T 16: 35,823,252 (GRCm39) T35S probably benign Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Mgat4a A G 1: 37,489,495 (GRCm39) probably benign Het
Mrpl48 T A 7: 100,209,130 (GRCm39) probably benign Het
Ncapd2 T C 6: 125,163,747 (GRCm39) K78E probably damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Or10a3n C A 7: 108,493,189 (GRCm39) V142L probably benign Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Or6c69 A G 10: 129,747,505 (GRCm39) I214T probably benign Het
Pacs2 T C 12: 113,024,733 (GRCm39) S408P probably damaging Het
Pcx C T 19: 4,667,995 (GRCm39) H506Y probably benign Het
Pla2g6 G T 15: 79,197,296 (GRCm39) P93T probably damaging Het
Pramel28 C T 4: 143,692,356 (GRCm39) W215* probably null Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rcor1 A G 12: 111,006,169 (GRCm39) probably benign Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Sytl2 T A 7: 90,030,700 (GRCm39) probably benign Het
Tia1 T C 6: 86,393,319 (GRCm39) F53S probably damaging Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Tmod1 A G 4: 46,078,315 (GRCm39) N41S probably damaging Het
Ttn T C 2: 76,583,139 (GRCm39) I22585V possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt1a10 C A 1: 88,143,862 (GRCm39) H361N probably damaging Het
Vmn1r118 G T 7: 20,645,933 (GRCm39) Q114K probably damaging Het
Vps39 C T 2: 120,180,656 (GRCm39) R43Q probably benign Het
Vwa5b2 T C 16: 20,417,111 (GRCm39) *603Q probably null Het
Zeb1 G A 18: 5,772,716 (GRCm39) A1002T probably benign Het
Zxdc A G 6: 90,347,449 (GRCm39) probably null Het
Other mutations in Dera
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02134:Dera APN 6 137,807,269 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGAACTGAGCGAGTCTCCAC -3'
(R):5'- TCCACATTTAGATTCAGCTGGTTTG -3'

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