Incidental Mutation 'R8248:Dcp1a'
ID 640393
Institutional Source Beutler Lab
Gene Symbol Dcp1a
Ensembl Gene ENSMUSG00000021962
Gene Name decapping mRNA 1A
Synonyms SMIF, Mitc1, 1110066A22Rik, D14Ertd817e, 4930568L04Rik
MMRRC Submission 067675-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R8248 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30201613-30249013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30244883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 570 (T570A)
Ref Sequence ENSEMBL: ENSMUSP00000022535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022535] [ENSMUST00000225196] [ENSMUST00000225286]
AlphaFold Q91YD3
Predicted Effect possibly damaging
Transcript: ENSMUST00000022535
AA Change: T570A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022535
Gene: ENSMUSG00000021962
AA Change: T570A

DomainStartEndE-ValueType
Pfam:DCP1 28 144 1.8e-44 PFAM
low complexity region 327 343 N/A INTRINSIC
low complexity region 457 472 N/A INTRINSIC
Pfam:mRNA_decap_C 559 601 6.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223658
Predicted Effect possibly damaging
Transcript: ENSMUST00000225196
AA Change: T570A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000225286
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,556 (GRCm39) D24G noncoding transcript Het
Adam32 A G 8: 25,391,486 (GRCm39) S343P possibly damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Ahi1 T A 10: 20,847,991 (GRCm39) D466E probably benign Het
Ahnak T A 19: 8,979,310 (GRCm39) V198E probably damaging Het
Ank2 T A 3: 126,731,434 (GRCm39) H658L possibly damaging Het
Atp8b5 T A 4: 43,366,072 (GRCm39) I781N probably damaging Het
Bloc1s6 A T 2: 122,584,565 (GRCm39) R47* probably null Het
Clk2 G A 3: 89,080,811 (GRCm39) V266M probably damaging Het
Cul9 A C 17: 46,840,940 (GRCm39) Y777D probably damaging Het
Dnajb2 T G 1: 75,220,226 (GRCm39) D248E Het
Dpy19l1 T C 9: 24,414,191 (GRCm39) H79R probably benign Het
Elmo1 T C 13: 20,784,371 (GRCm39) S643P probably damaging Het
Evi5 A G 5: 107,966,753 (GRCm39) probably null Het
Fam76b T C 9: 13,742,398 (GRCm39) C110R probably damaging Het
Galnt7 T A 8: 57,991,222 (GRCm39) K429N probably benign Het
Gm10142 T A 10: 77,551,950 (GRCm39) C104S probably damaging Het
Gm7298 A C 6: 121,764,402 (GRCm39) H1427P probably benign Het
Golga7b A T 19: 42,255,310 (GRCm39) I87F probably damaging Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
Gpr25 C A 1: 136,188,415 (GRCm39) R66L probably benign Het
H2-Q2 A G 17: 35,563,841 (GRCm39) N241D probably benign Het
Il1a T C 2: 129,144,881 (GRCm39) D179G probably benign Het
Itch T C 2: 155,048,303 (GRCm39) probably null Het
Itsn2 T C 12: 4,712,052 (GRCm39) V913A probably benign Het
Kdm1b T A 13: 47,225,354 (GRCm39) probably benign Het
Lama4 T C 10: 38,937,375 (GRCm39) I655T possibly damaging Het
Lats1 T A 10: 7,581,667 (GRCm39) S817R probably damaging Het
Lrrc8c A T 5: 105,755,733 (GRCm39) M503L probably benign Het
Mast4 T C 13: 102,875,229 (GRCm39) T1380A probably damaging Het
Mfap1a G T 2: 121,336,976 (GRCm39) T16K possibly damaging Het
Mroh2b C T 15: 4,960,586 (GRCm39) T773I probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nudt7 A G 8: 114,878,737 (GRCm39) Y255C probably benign Het
Pfas T C 11: 68,891,089 (GRCm39) T310A probably damaging Het
Pkhd1l1 T G 15: 44,406,942 (GRCm39) I2393R probably damaging Het
Pmm1 A C 15: 81,844,932 (GRCm39) L24R possibly damaging Het
Pram1 T C 17: 33,860,138 (GRCm39) V235A probably benign Het
Prg4 T C 1: 150,330,877 (GRCm39) T599A unknown Het
Prpf40b A G 15: 99,214,166 (GRCm39) K812E unknown Het
Qars1 G A 9: 108,386,651 (GRCm39) A155T probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgs6 A G 12: 83,184,478 (GRCm39) probably benign Het
Rom1 T A 19: 8,906,045 (GRCm39) R165W probably damaging Het
Rps6kb2 T A 19: 4,206,987 (GRCm39) probably benign Het
Ryr1 A T 7: 28,768,546 (GRCm39) W2808R probably damaging Het
Sh3gl1 A G 17: 56,326,038 (GRCm39) probably null Het
Slc22a30 A T 19: 8,347,563 (GRCm39) M279K probably benign Het
Snx11 A G 11: 96,660,759 (GRCm39) S184P unknown Het
Srgap1 A G 10: 121,640,722 (GRCm39) C692R probably damaging Het
Srgap3 T C 6: 112,700,104 (GRCm39) N982S probably damaging Het
Stac T A 9: 111,422,813 (GRCm39) D270V probably benign Het
Syn3 T A 10: 85,970,885 (GRCm39) I246F probably benign Het
Tnr T C 1: 159,719,663 (GRCm39) V980A probably damaging Het
Usp17le G T 7: 104,419,001 (GRCm39) A47E possibly damaging Het
Vmn2r118 T C 17: 55,917,936 (GRCm39) N192S probably benign Het
Zmym4 C A 4: 126,799,162 (GRCm39) V725L possibly damaging Het
Other mutations in Dcp1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:Dcp1a APN 14 30,227,528 (GRCm39) missense possibly damaging 0.52
IGL02698:Dcp1a APN 14 30,227,499 (GRCm39) splice site probably benign
IGL02799:Dcp1a UTSW 14 30,241,636 (GRCm39) critical splice donor site probably null
R0240:Dcp1a UTSW 14 30,206,551 (GRCm39) splice site probably benign
R0387:Dcp1a UTSW 14 30,241,636 (GRCm39) critical splice donor site probably null
R0646:Dcp1a UTSW 14 30,224,842 (GRCm39) missense probably damaging 1.00
R1781:Dcp1a UTSW 14 30,235,032 (GRCm39) missense probably benign 0.37
R1843:Dcp1a UTSW 14 30,240,940 (GRCm39) missense probably damaging 0.99
R2111:Dcp1a UTSW 14 30,241,327 (GRCm39) missense probably benign 0.00
R3176:Dcp1a UTSW 14 30,227,499 (GRCm39) splice site probably benign
R4948:Dcp1a UTSW 14 30,201,724 (GRCm39) missense probably damaging 1.00
R5541:Dcp1a UTSW 14 30,224,796 (GRCm39) missense probably damaging 1.00
R6178:Dcp1a UTSW 14 30,245,261 (GRCm39) makesense probably null
R7767:Dcp1a UTSW 14 30,201,775 (GRCm39) critical splice donor site probably null
R7818:Dcp1a UTSW 14 30,201,678 (GRCm39) missense probably damaging 0.99
R8248:Dcp1a UTSW 14 30,201,555 (GRCm39) intron probably benign
R8250:Dcp1a UTSW 14 30,244,883 (GRCm39) missense possibly damaging 0.87
R8271:Dcp1a UTSW 14 30,244,883 (GRCm39) missense possibly damaging 0.87
R8297:Dcp1a UTSW 14 30,244,883 (GRCm39) missense possibly damaging 0.87
R8302:Dcp1a UTSW 14 30,244,883 (GRCm39) missense possibly damaging 0.87
R8326:Dcp1a UTSW 14 30,241,527 (GRCm39) nonsense probably null
R8333:Dcp1a UTSW 14 30,244,883 (GRCm39) missense possibly damaging 0.87
R8818:Dcp1a UTSW 14 30,240,899 (GRCm39) missense possibly damaging 0.64
R9554:Dcp1a UTSW 14 30,201,691 (GRCm39) missense probably benign 0.01
R9599:Dcp1a UTSW 14 30,241,497 (GRCm39) missense probably benign
R9641:Dcp1a UTSW 14 30,241,132 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCTGTGTCCCGGCAGATTG -3'
(R):5'- CCCAGAGGCAGTTACAATGACAG -3'

Sequencing Primer
(F):5'- CAGATTGCAGGCTCTCCATTGG -3'
(R):5'- TGACAGTCCAGGTTTACAGC -3'
Posted On 2020-07-28