Incidental Mutation 'R0014:Exog'
ID8059
Institutional Source Beutler Lab
Gene Symbol Exog
Ensembl Gene ENSMUSG00000042787
Gene Nameendo/exonuclease (5'-3'), endonuclease G-like
SynonymsENDOGL2, Endogl1, ENGL-a, ENGL-B
MMRRC Submission 038309-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #R0014 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location119444904-119465517 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119452278 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 218 (I218T)
Ref Sequence ENSEMBL: ENSMUSP00000129273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035094] [ENSMUST00000164213] [ENSMUST00000214140] [ENSMUST00000214462]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035094
AA Change: I194T

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035094
Gene: ENSMUSG00000042787
AA Change: I194T

DomainStartEndE-ValueType
Blast:Endonuclease_NS 1 53 1e-5 BLAST
Endonuclease_NS 76 287 2.01e-74 SMART
NUC 77 287 2.25e-103 SMART
low complexity region 348 363 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164213
AA Change: I218T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129273
Gene: ENSMUSG00000042787
AA Change: I218T

DomainStartEndE-ValueType
low complexity region 34 49 N/A INTRINSIC
Endonuclease_NS 100 311 2.01e-74 SMART
NUC 101 311 2.25e-103 SMART
low complexity region 372 387 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214140
Predicted Effect probably benign
Transcript: ENSMUST00000214462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215819
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 75.1%
  • 3x: 61.1%
  • 10x: 30.7%
  • 20x: 14.1%
Validation Efficiency 90% (62/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130409I23Rik T C 1: 181,055,131 F153L possibly damaging Het
Adam17 C T 12: 21,336,644 E445K probably benign Het
Als2 A G 1: 59,211,388 V399A possibly damaging Het
Ankrd52 C A 10: 128,386,452 T583K probably benign Het
Ccr5 T C 9: 124,124,621 F87S probably damaging Het
Clcc1 T A 3: 108,661,396 C10* probably null Het
Cngb3 T C 4: 19,396,685 I346T probably benign Het
Dmbx1 G T 4: 115,918,024 T358K probably damaging Het
Dpyd T C 3: 119,141,935 S670P probably damaging Het
Epc2 A T 2: 49,522,525 K172* probably null Het
F2rl2 A T 13: 95,700,909 N154I probably damaging Het
Fbxo30 T A 10: 11,289,859 Y108* probably null Het
Fhad1 A T 4: 141,928,408 L795Q probably damaging Het
Fyttd1 G A 16: 32,905,554 R175Q probably damaging Het
Gbp5 T A 3: 142,506,735 C395S probably damaging Het
Gen1 T C 12: 11,241,641 N716D probably benign Het
Gucy1b1 T C 3: 82,039,861 D347G probably damaging Het
Helz2 A G 2: 181,240,511 L163P probably damaging Het
Hmox2 T A 16: 4,765,033 L210Q probably damaging Het
Khdrbs3 A G 15: 69,024,835 T115A probably benign Het
Lrrk2 T C 15: 91,802,045 probably benign Het
Ncoa6 A C 2: 155,438,043 S18A possibly damaging Het
Neb G A 2: 52,287,156 A1391V probably damaging Het
Nek6 T C 2: 38,558,844 probably benign Het
Pclo C T 5: 14,680,451 probably benign Het
Pex1 G A 5: 3,626,141 probably benign Het
Pi4kb T G 3: 94,998,897 I612S probably damaging Het
Pitx2 T G 3: 129,218,499 S193A possibly damaging Het
Psma8 A G 18: 14,726,530 I86V possibly damaging Het
Slc7a2 T C 8: 40,911,028 L426P probably damaging Het
Tut1 T A 19: 8,962,447 L265Q possibly damaging Het
Wdr63 T C 3: 146,081,423 probably null Het
Zfp458 A G 13: 67,258,090 V95A possibly damaging Het
Other mutations in Exog
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Exog APN 9 119462526 missense probably damaging 0.98
IGL03013:Exog APN 9 119462613 missense possibly damaging 0.86
IGL03399:Exog APN 9 119446951 missense possibly damaging 0.83
R0102:Exog UTSW 9 119452253 missense possibly damaging 0.83
R0102:Exog UTSW 9 119452253 missense possibly damaging 0.83
R0508:Exog UTSW 9 119448378 splice site probably benign
R0754:Exog UTSW 9 119462506 missense probably benign 0.15
R1389:Exog UTSW 9 119462506 missense probably benign 0.15
R1552:Exog UTSW 9 119445110 missense unknown
R1777:Exog UTSW 9 119449818 missense probably damaging 1.00
R1961:Exog UTSW 9 119452266 missense possibly damaging 0.92
R3085:Exog UTSW 9 119462452 missense probably benign 0.42
R3799:Exog UTSW 9 119449810 missense probably damaging 1.00
R5618:Exog UTSW 9 119462751 missense probably damaging 0.99
R7310:Exog UTSW 9 119445003 missense unknown
R7320:Exog UTSW 9 119462478 missense possibly damaging 0.63
Z1177:Exog UTSW 9 119445080 missense not run
Z1177:Exog UTSW 9 119448498 missense not run
Posted On2012-11-20