Incidental Mutation 'R3952:Dera'
ID307994
Institutional Source Beutler Lab
Gene Symbol Dera
Ensembl Gene ENSMUSG00000030225
Gene Namedeoxyribose-phosphate aldolase (putative)
Synonyms2010002D22Rik, 2500002K03Rik
MMRRC Submission 040829-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3952 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location137754546-137857340 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 137837120 bp
ZygosityHeterozygous
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]
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: 100,615,296 probably benign Het
4833423E24Rik T C 2: 85,500,204 probably benign Het
4932414N04Rik T C 2: 68,664,403 probably null Het
Abi3bp C T 16: 56,604,038 T450I possibly damaging Het
Abl1 A T 2: 31,784,537 T213S probably damaging Het
Apc2 C T 10: 80,314,484 R1762W probably damaging Het
Arl2 G T 19: 6,134,677 T182N probably benign Het
Brd8 C G 18: 34,614,444 probably benign Het
Cdh23 T C 10: 60,657,326 Y3C probably benign Het
Clca3a2 A G 3: 144,803,061 Y666H probably damaging Het
Cmya5 A G 13: 93,089,199 V3127A possibly damaging Het
Copg1 G A 6: 87,905,216 A598T probably benign Het
Epha1 C A 6: 42,364,285 L535F probably damaging Het
Epha4 A T 1: 77,399,716 Y509N probably damaging Het
Ggcx G A 6: 72,426,558 G363R probably benign Het
Gm13101 C T 4: 143,965,786 W215* probably null Het
Hjurp G C 1: 88,277,215 probably benign Het
Kpna1 A T 16: 36,002,882 T35S probably benign Het
Map3k20 T G 2: 72,438,300 I550M probably damaging Het
Mgat4a A G 1: 37,450,414 probably benign Het
Mrpl48 T A 7: 100,559,923 probably benign Het
Ncapd2 T C 6: 125,186,784 K78E probably damaging Het
Ndst1 T C 18: 60,697,139 N633S probably benign Het
Olfr1128 T C 2: 87,545,065 T160A probably damaging Het
Olfr519 C A 7: 108,893,982 V142L probably benign Het
Olfr816 A G 10: 129,911,636 I214T probably benign Het
Pacs2 T C 12: 113,061,113 S408P probably damaging Het
Pcx C T 19: 4,617,967 H506Y probably benign Het
Pla2g6 G T 15: 79,313,096 P93T probably damaging Het
Prpmp5 G A 6: 132,312,694 P56S unknown Het
Rcor1 A G 12: 111,039,735 probably benign Het
Rtn4ip1 T A 10: 43,909,897 probably null Het
Sytl2 T A 7: 90,381,492 probably benign Het
Tia1 T C 6: 86,416,337 F53S probably damaging Het
Ticrr T C 7: 79,682,069 L776S probably damaging Het
Tmod1 A G 4: 46,078,315 N41S probably damaging Het
Ttn T C 2: 76,752,795 I22585V possibly damaging Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Ugt1a10 C A 1: 88,216,140 H361N probably damaging Het
Vmn1r118 G T 7: 20,912,008 Q114K probably damaging Het
Vps39 C T 2: 120,350,175 R43Q probably benign Het
Vwa5b2 T C 16: 20,598,361 *603Q probably null Het
Zeb1 G A 18: 5,772,716 A1002T probably benign Het
Zxdc A G 6: 90,370,467 probably null Het
Other mutations in Dera
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02134:Dera APN 6 137830271 missense probably damaging 1.00
IGL02220:Dera APN 6 137780817 unclassified probably null
IGL02449:Dera APN 6 137780817 unclassified 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
R4561:Dera UTSW 6 137780738 missense possibly damaging 0.83
R7687:Dera UTSW 6 137836880 missense
Z1088:Dera UTSW 6 137837118 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 On2015-04-17