Incidental Mutation 'R7063:Eepd1'
ID548399
Institutional Source Beutler Lab
Gene Symbol Eepd1
Ensembl Gene ENSMUSG00000036611
Gene Nameendonuclease/exonuclease/phosphatase family domain containing 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #R7063 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location25481547-25604110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25483036 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 199 (R199G)
Ref Sequence ENSEMBL: ENSMUSP00000047083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040677]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040677
AA Change: R199G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047083
Gene: ENSMUSG00000036611
AA Change: R199G

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
Meta Mutation Damage Score 0.0785 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 A G 7: 16,565,113 V9A probably benign Het
Btbd6 A G 12: 112,977,512 Y148C probably damaging Het
C130060K24Rik A G 6: 65,441,403 probably benign Het
Casr T C 16: 36,494,574 I968V probably benign Het
Celf1 T C 2: 91,012,844 probably null Het
Chst2 G T 9: 95,405,568 R242S probably benign Het
Clca3a1 T A 3: 144,755,206 D228V probably damaging Het
Cwf19l2 A G 9: 3,430,532 Y288C probably benign Het
Cyp2r1 A G 7: 114,552,949 S49P probably damaging Het
Dnah5 A G 15: 28,233,248 E251G probably benign Het
Fat1 C T 8: 45,040,775 T3986I probably benign Het
Gbp4 G A 5: 105,118,448 R576C probably damaging Het
Glp1r A G 17: 30,925,558 Y235C probably damaging Het
Gm31371 G A 8: 19,903,412 C7Y Het
Gm6408 T C 5: 146,483,784 I158T probably benign Het
Gpr89 C G 3: 96,875,698 R312P probably damaging Het
Idh2 A G 7: 80,095,684 V403A probably damaging Het
Lclat1 A G 17: 73,239,991 E301G possibly damaging Het
Lgmn A G 12: 102,402,678 Y181H probably damaging Het
Lgr5 T C 10: 115,456,734 Y417C probably damaging Het
Man1a G T 10: 54,030,744 N311K probably damaging Het
Nat10 G A 2: 103,748,077 L228F probably benign Het
Olfr1417 A G 19: 11,828,184 F281L probably damaging Het
Olfr1445 A G 19: 12,884,085 D68G probably damaging Het
Olfr476 C A 7: 107,968,204 A269E probably benign Het
Olfr958 T G 9: 39,550,115 Y252S possibly damaging Het
Pcmtd2 T A 2: 181,854,983 Y130* probably null Het
Rapgef5 A G 12: 117,689,129 D62G possibly damaging Het
Serpina3m A T 12: 104,391,467 I217L probably benign Het
Supt16 T C 14: 52,172,048 R802G possibly damaging Het
Sypl2 A T 3: 108,217,655 M130K probably benign Het
Tmtc2 A T 10: 105,348,525 L503Q probably damaging Het
Ubald2 A G 11: 116,434,617 Q60R probably benign Het
Vav1 C T 17: 57,311,860 Q673* probably null Het
Vgll2 T C 10: 52,027,976 S312P probably benign Het
Vmn1r191 C T 13: 22,178,694 A297T probably benign Het
Vmn1r7 T A 6: 57,024,433 I281F possibly damaging Het
Vmn2r108 T C 17: 20,481,148 Y30C probably damaging Het
Vmn2r16 A G 5: 109,363,784 N619S probably damaging Het
Vstm5 A G 9: 15,239,253 probably benign Het
Zfp7 A G 15: 76,891,719 I654V possibly damaging Het
Zmat2 A G 18: 36,796,574 N129S probably null Het
Other mutations in Eepd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Eepd1 APN 9 25482482 missense probably damaging 1.00
IGL02110:Eepd1 APN 9 25603402 splice site probably benign
IGL02113:Eepd1 APN 9 25482713 missense probably damaging 1.00
IGL02188:Eepd1 APN 9 25581892 missense probably benign 0.01
IGL02930:Eepd1 APN 9 25483240 missense probably damaging 0.96
IGL03293:Eepd1 APN 9 25603412 missense possibly damaging 0.90
IGL03046:Eepd1 UTSW 9 25482685 missense probably damaging 1.00
R0970:Eepd1 UTSW 9 25603426 missense probably damaging 1.00
R1037:Eepd1 UTSW 9 25586783 missense possibly damaging 0.94
R1441:Eepd1 UTSW 9 25483203 missense probably benign
R1835:Eepd1 UTSW 9 25482868 missense possibly damaging 0.84
R3912:Eepd1 UTSW 9 25483304 missense probably damaging 1.00
R4245:Eepd1 UTSW 9 25594624 missense probably benign 0.00
R4704:Eepd1 UTSW 9 25482826 missense probably benign
R4838:Eepd1 UTSW 9 25589460 missense possibly damaging 0.56
R5153:Eepd1 UTSW 9 25586753 missense probably benign 0.37
R5634:Eepd1 UTSW 9 25603553 missense probably benign 0.12
R5994:Eepd1 UTSW 9 25603453 missense probably damaging 1.00
R6141:Eepd1 UTSW 9 25482984 missense probably benign 0.00
R6709:Eepd1 UTSW 9 25482868 missense probably benign 0.26
R8697:Eepd1 UTSW 9 25586702 missense probably benign
Predicted Primers PCR Primer
(F):5'- ATCACCTGACCACCACTGTG -3'
(R):5'- AGCCCTGTAAGTTCCACGTG -3'

Sequencing Primer
(F):5'- TCCTCGAGTCAATATCAACACAG -3'
(R):5'- TGTAAGTTCCACGTGGCCAAC -3'
Posted On2019-05-13