Incidental Mutation 'R8697:Eepd1'
ID 668789
Institutional Source Beutler Lab
Gene Symbol Eepd1
Ensembl Gene ENSMUSG00000036611
Gene Name endonuclease/exonuclease/phosphatase family domain containing 1
Synonyms 2310005P05Rik
MMRRC Submission 068551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R8697 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 25392843-25515406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25497998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 361 (N361S)
Ref Sequence ENSEMBL: ENSMUSP00000047083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040677]
AlphaFold Q3TGW2
Predicted Effect probably benign
Transcript: ENSMUST00000040677
AA Change: N361S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047083
Gene: ENSMUSG00000036611
AA Change: N361S

DomainStartEndE-ValueType
HhH1 48 67 1.45e-1 SMART
HhH1 78 97 2.55e2 SMART
low complexity region 124 135 N/A INTRINSIC
HhH1 145 164 6.66e-1 SMART
Pfam:Exo_endo_phos 264 535 6.6e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik C T 1: 161,795,565 (GRCm39) A8T probably benign Het
Acacb T C 5: 114,351,441 (GRCm39) V1130A probably damaging Het
Ackr1 A G 1: 173,159,775 (GRCm39) F248S probably damaging Het
Alx4 G A 2: 93,505,657 (GRCm39) R253Q probably damaging Het
Ap3b2 T C 7: 81,122,783 (GRCm39) I485V possibly damaging Het
Aqp7 T C 4: 41,045,305 (GRCm39) E25G probably damaging Het
Cacna1g T C 11: 94,307,524 (GRCm39) N1753D probably benign Het
Cacna2d1 T A 5: 16,570,865 (GRCm39) N1063K possibly damaging Het
Cad T C 5: 31,231,945 (GRCm39) V1801A probably benign Het
Ccdc171 T C 4: 83,600,577 (GRCm39) W868R probably damaging Het
Cecr2 T C 6: 120,710,779 (GRCm39) Y165H probably damaging Het
Clip4 G T 17: 72,163,270 (GRCm39) G614V possibly damaging Het
Ctnnal1 T A 4: 56,838,986 (GRCm39) M236L probably damaging Het
Ctps1 T C 4: 120,399,947 (GRCm39) D470G probably benign Het
Dmwd A C 7: 18,812,113 (GRCm39) Q189P probably damaging Het
Dnah17 A G 11: 117,976,985 (GRCm39) I1869T possibly damaging Het
Ephb6 C T 6: 41,591,157 (GRCm39) H105Y probably damaging Het
Fkbp15 A T 4: 62,239,295 (GRCm39) Y603* probably null Het
Flt3 T C 5: 147,294,811 (GRCm39) Y420C possibly damaging Het
Frem2 T A 3: 53,433,249 (GRCm39) T2692S probably damaging Het
Gna12 T A 5: 140,771,200 (GRCm39) R157S probably benign Het
Gsdmc A T 15: 63,651,883 (GRCm39) S243T probably benign Het
Hectd1 A G 12: 51,819,320 (GRCm39) probably benign Het
Hoxd11 G A 2: 74,513,013 (GRCm39) G93R unknown Het
Hydin A G 8: 111,259,515 (GRCm39) I2496V probably benign Het
Igsf10 A G 3: 59,226,308 (GRCm39) I2455T probably benign Het
Ilvbl A T 10: 78,419,196 (GRCm39) R482* probably null Het
Itpr1 A G 6: 108,500,327 (GRCm39) Y2640C probably damaging Het
Kif20a C G 18: 34,761,584 (GRCm39) Q326E probably benign Het
Lamp1 A T 8: 13,224,448 (GRCm39) M371L possibly damaging Het
Lcn6 A G 2: 25,567,166 (GRCm39) N56D probably benign Het
Map3k10 A G 7: 27,362,784 (GRCm39) V434A probably benign Het
Mdga1 T C 17: 30,065,615 (GRCm39) N331S probably damaging Het
Mndal C A 1: 173,700,558 (GRCm39) E138* probably null Het
Morc3 T C 16: 93,667,908 (GRCm39) V762A probably benign Het
Ngef A T 1: 87,417,459 (GRCm39) F279Y probably damaging Het
Or10ac1 A G 6: 42,515,629 (GRCm39) V109A probably damaging Het
Or5m13b A T 2: 85,754,200 (GRCm39) K196I possibly damaging Het
Padi4 GGAGCTCCTGA GGA 4: 140,485,230 (GRCm39) probably null Het
Pcdhb4 G A 18: 37,441,832 (GRCm39) V381M probably benign Het
Ppm1d T C 11: 85,227,986 (GRCm39) Y301H possibly damaging Het
Rasgrf1 A G 9: 89,877,055 (GRCm39) T807A probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Sipa1l2 T C 8: 126,208,855 (GRCm39) K518E probably damaging Het
Skic3 A G 13: 76,328,274 (GRCm39) S1441G probably damaging Het
Slc52a3 A G 2: 151,846,396 (GRCm39) D119G probably damaging Het
Srsf4 C T 4: 131,628,042 (GRCm39) H379Y unknown Het
Ssr1 G T 13: 38,167,425 (GRCm39) S246* probably null Het
Tars2 C T 3: 95,653,374 (GRCm39) E509K possibly damaging Het
Tepsin G T 11: 119,988,354 (GRCm39) Y34* probably null Het
Tmtc2 A G 10: 105,205,831 (GRCm39) I488T probably damaging Het
Trgc2 A T 13: 19,491,514 (GRCm39) M69K Het
Ttn A G 2: 76,575,120 (GRCm39) W25258R probably damaging Het
Utp14b T C 1: 78,644,244 (GRCm39) M714T probably benign Het
Vwa3b T A 1: 37,115,461 (GRCm39) H308Q probably benign Het
Washc2 A G 6: 116,206,220 (GRCm39) D480G probably benign Het
Xcl1 C T 1: 164,763,008 (GRCm39) V18I unknown Het
Zcchc2 C A 1: 105,958,494 (GRCm39) N988K probably damaging Het
Other mutations in Eepd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Eepd1 APN 9 25,393,778 (GRCm39) missense probably damaging 1.00
IGL02110:Eepd1 APN 9 25,514,698 (GRCm39) splice site probably benign
IGL02113:Eepd1 APN 9 25,394,009 (GRCm39) missense probably damaging 1.00
IGL02188:Eepd1 APN 9 25,493,188 (GRCm39) missense probably benign 0.01
IGL02930:Eepd1 APN 9 25,394,536 (GRCm39) missense probably damaging 0.96
IGL03293:Eepd1 APN 9 25,514,708 (GRCm39) missense possibly damaging 0.90
IGL03046:Eepd1 UTSW 9 25,393,981 (GRCm39) missense probably damaging 1.00
R0970:Eepd1 UTSW 9 25,514,722 (GRCm39) missense probably damaging 1.00
R1037:Eepd1 UTSW 9 25,498,079 (GRCm39) missense possibly damaging 0.94
R1441:Eepd1 UTSW 9 25,394,499 (GRCm39) missense probably benign
R1835:Eepd1 UTSW 9 25,394,164 (GRCm39) missense possibly damaging 0.84
R3912:Eepd1 UTSW 9 25,394,600 (GRCm39) missense probably damaging 1.00
R4245:Eepd1 UTSW 9 25,505,920 (GRCm39) missense probably benign 0.00
R4704:Eepd1 UTSW 9 25,394,122 (GRCm39) missense probably benign
R4838:Eepd1 UTSW 9 25,500,756 (GRCm39) missense possibly damaging 0.56
R5153:Eepd1 UTSW 9 25,498,049 (GRCm39) missense probably benign 0.37
R5634:Eepd1 UTSW 9 25,514,849 (GRCm39) missense probably benign 0.12
R5994:Eepd1 UTSW 9 25,514,749 (GRCm39) missense probably damaging 1.00
R6141:Eepd1 UTSW 9 25,394,280 (GRCm39) missense probably benign 0.00
R6709:Eepd1 UTSW 9 25,394,164 (GRCm39) missense probably benign 0.26
R7063:Eepd1 UTSW 9 25,394,332 (GRCm39) missense possibly damaging 0.93
R8903:Eepd1 UTSW 9 25,394,518 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTCATTATGGAAGCACCCCATG -3'
(R):5'- GGGAGCTTCCAGAATAGGTAC -3'

Sequencing Primer
(F):5'- CCATGTGAGTGACCGTGAG -3'
(R):5'- GGGAGCTTCCAGAATAGGTACTAATC -3'
Posted On 2021-04-30