Incidental Mutation 'IGL01383:Eepd1'
ID78943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eepd1
Ensembl Gene ENSMUSG00000036611
Gene Nameendonuclease/exonuclease/phosphatase family domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL01383
Quality Score
Status
Chromosome9
Chromosomal Location25481547-25604110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25482482 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 14 (D14G)
Ref Sequence ENSEMBL: ENSMUSP00000047083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040677]
Predicted Effect probably damaging
Transcript: ENSMUST00000040677
AA Change: D14G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047083
Gene: ENSMUSG00000036611
AA Change: D14G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156237
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik C A 14: 5,051,570 probably null Het
4931409K22Rik A T 5: 24,548,294 N453K probably benign Het
Abca9 A C 11: 110,113,293 probably benign Het
Aox2 T A 1: 58,294,305 M227K probably benign Het
Asb5 T A 8: 54,550,509 L22H probably damaging Het
Atrx T C X: 105,802,075 D2309G probably damaging Het
Cand1 T A 10: 119,208,167 T1074S probably damaging Het
Ccdc114 T C 7: 45,939,700 S179P probably damaging Het
Cep97 T C 16: 55,911,607 E534G probably damaging Het
Cftr C A 6: 18,226,041 N329K probably benign Het
Clec7a T C 6: 129,472,640 T16A probably damaging Het
Col1a1 G A 11: 94,945,525 R674H probably damaging Het
Csf2rb2 T C 15: 78,297,043 S50G possibly damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gm13103 T G 4: 143,846,532 probably benign Het
Grin1 C A 2: 25,296,967 R694L possibly damaging Het
Gtf3c1 A G 7: 125,699,500 I151T probably damaging Het
Havcr2 T C 11: 46,469,548 S152P probably damaging Het
Hvcn1 T C 5: 122,237,703 V15A probably damaging Het
Map3k10 C T 7: 27,657,999 V785M probably benign Het
Mis18bp1 T C 12: 65,148,989 N667S probably benign Het
Mup3 A C 4: 62,085,959 Y106D probably damaging Het
Mypn G T 10: 63,135,797 N821K probably damaging Het
Olfr1386 T A 11: 49,471,053 W301R probably benign Het
Olfr152 A G 2: 87,782,873 D111G possibly damaging Het
Olfr209 A T 16: 59,361,953 N88K probably benign Het
Olfr547 A G 7: 102,534,933 Y62C probably benign Het
Pcdhb10 A T 18: 37,413,275 H468L probably benign Het
Prp2 C A 6: 132,599,878 P43T unknown Het
Psg26 A G 7: 18,480,254 V161A possibly damaging Het
Rab17 T G 1: 90,960,093 D115A probably damaging Het
Rrp1b T C 17: 32,058,578 F611L probably damaging Het
Skor1 T A 9: 63,146,556 T44S probably benign Het
Spaca5 T C X: 21,068,486 probably benign Het
Tatdn3 G A 1: 191,055,381 probably benign Het
Tbk1 T C 10: 121,576,279 D118G probably damaging Het
Tnfsf13b T C 8: 10,031,528 F230S probably damaging Het
Tnrc6c T C 11: 117,714,257 S73P probably benign Het
Vmn2r109 A G 17: 20,541,121 V658A possibly damaging Het
Vmn2r116 C T 17: 23,401,601 L770F probably damaging Het
Wwp2 T A 8: 107,533,291 probably null Het
Other mutations in Eepd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7063:Eepd1 UTSW 9 25483036 missense possibly damaging 0.93
Posted On2013-11-05