Incidental Mutation 'R1961:Exog'
ID317942
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 039975-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #R1961 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location119444904-119465517 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119452266 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 190 (E190G)
Ref Sequence ENSEMBL: ENSMUSP00000035094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035094] [ENSMUST00000164213] [ENSMUST00000214140] [ENSMUST00000214462]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035094
AA Change: E190G

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035094
Gene: ENSMUSG00000042787
AA Change: E190G

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 possibly damaging
Transcript: ENSMUST00000164213
AA Change: E214G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129273
Gene: ENSMUSG00000042787
AA Change: E214G

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 0.224 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 99% (93/94)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A G 6: 96,165,269 S265P possibly damaging Het
3110001I22Rik T A 16: 13,677,728 H230Q probably benign Het
Abcc1 T C 16: 14,396,393 Y191H probably damaging Het
Abcc4 C A 14: 118,611,456 G495C probably damaging Het
Abcc4 C A 14: 118,611,459 V494L possibly damaging Het
Acsm4 T C 7: 119,708,740 Y367H probably benign Het
Adam21 A T 12: 81,559,508 Y493* probably null Het
Add2 T C 6: 86,096,756 F209S probably damaging Het
Adgre4 T C 17: 55,791,497 S136P probably benign Het
Aff4 T G 11: 53,372,999 L282R probably damaging Het
Akt3 A G 1: 177,096,995 I178T probably damaging Het
Ap3m1 T C 14: 21,041,015 Y174C probably damaging Het
Atl1 A G 12: 69,953,500 E308G probably benign Het
Atp8b5 T G 4: 43,369,688 V942G probably damaging Het
B3gntl1 A G 11: 121,644,525 probably null Het
Btrc T G 19: 45,527,343 I480S probably damaging Het
Cacna1c A T 6: 118,630,322 I1366N probably benign Het
Ccdc113 T A 8: 95,540,831 N141K probably benign Het
Ccdc167 T C 17: 29,704,431 N77D possibly damaging Het
Ccser1 T C 6: 61,313,646 probably benign Het
Cenpe A G 3: 135,242,493 E1230G probably damaging Het
Clec12a A C 6: 129,350,481 T21P possibly damaging Het
Cyp26c1 T A 19: 37,687,377 F230I probably damaging Het
Fam162b A G 10: 51,590,334 W30R probably benign Het
Fam172a C A 13: 77,902,720 H50N probably benign Het
Fndc3b G A 3: 27,456,451 Q841* probably null Het
Frzb T A 2: 80,424,601 Y197F probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,577,224 probably null Het
Gabrb1 G A 5: 71,700,336 R43Q probably benign Het
Gm21060 A T 19: 61,297,007 H21Q possibly damaging Het
Gm4825 A G 15: 85,511,044 noncoding transcript Het
Gm5581 A C 6: 131,168,162 noncoding transcript Het
Gm9894 T C 13: 67,763,915 noncoding transcript Het
Gpr15 T A 16: 58,718,007 I240L probably benign Het
Gria4 A T 9: 4,519,546 probably benign Het
Grid2 T C 6: 63,908,893 L91S probably damaging Het
Igsf5 A C 16: 96,378,351 T215P probably damaging Het
Kif13a G A 13: 46,864,838 probably benign Het
Kif21a G A 15: 90,970,848 A703V probably damaging Het
Kif27 T G 13: 58,293,123 R1159S probably benign Het
Kifc2 T A 15: 76,662,825 L226H probably damaging Het
Klf10 T C 15: 38,295,996 H435R probably damaging Het
Masp1 T C 16: 23,452,932 Y623C probably damaging Het
Megf10 T A 18: 57,212,354 C118S probably damaging Het
Mical3 A G 6: 120,982,607 V909A possibly damaging Het
Mmrn2 A G 14: 34,398,475 probably null Het
Mpeg1 G A 19: 12,462,911 V578M probably damaging Het
Nlrp2 T C 7: 5,327,738 E553G probably damaging Het
Nmi A T 2: 51,948,620 S301T probably benign Het
Nr2f2 G T 7: 70,358,155 T193K possibly damaging Het
Ntng2 T C 2: 29,197,098 N404S probably damaging Het
Olfr54 T G 11: 51,027,475 S158A probably benign Het
Olfr594 T C 7: 103,219,997 V93A probably benign Het
Oplah G A 15: 76,297,464 T1119I probably damaging Het
Otoa T A 7: 121,118,569 D336E probably benign Het
Pde4b A G 4: 102,597,460 E108G probably damaging Het
Pdgfrb G A 18: 61,061,505 R118H possibly damaging Het
Phactr4 G A 4: 132,377,248 T256I probably benign Het
Pla2g3 C T 11: 3,490,983 T316I probably benign Het
Plekhg4 A G 8: 105,381,464 E982G probably damaging Het
Pmfbp1 T G 8: 109,530,144 probably benign Het
Pot1b A T 17: 55,662,531 Y546N probably damaging Het
Rab11fip5 C A 6: 85,348,991 Q144H possibly damaging Het
Reep3 A T 10: 67,039,499 probably null Het
Rgl2 T C 17: 33,933,615 L400P probably damaging Het
Rnf122 A G 8: 31,124,846 probably benign Het
Scgb1b21 G T 7: 33,527,378 noncoding transcript Het
Sec63 A T 10: 42,823,886 K647N probably damaging Het
Sema4a C T 3: 88,438,176 probably benign Het
Serpinf1 C T 11: 75,416,419 V31I probably benign Het
Sez6l C T 5: 112,424,615 probably benign Het
Shank3 T C 15: 89,557,964 S1612P possibly damaging Het
Slc19a3 G A 1: 83,022,798 T166M probably benign Het
Slc22a29 C A 19: 8,169,193 R415M probably benign Het
Slc38a11 A T 2: 65,330,339 F304I possibly damaging Het
Slitrk1 T A 14: 108,912,190 N363I probably damaging Het
Slx4ip A G 2: 137,067,681 T129A probably benign Het
Spop T C 11: 95,491,711 V332A possibly damaging Het
Sptlc1 A C 13: 53,358,880 D147E probably benign Het
Tnpo1 T C 13: 98,852,932 Y754C probably damaging Het
Tox C A 4: 6,688,886 V493L probably damaging Het
Ttbk1 A C 17: 46,480,224 F45V probably damaging Het
Ttc27 T A 17: 74,780,856 M472K probably damaging Het
Ttll7 A G 3: 146,915,795 probably benign Het
Ttn A T 2: 76,721,760 C22851S probably benign Het
Ttn T A 2: 76,798,212 M14535L possibly damaging Het
Txlna T C 4: 129,640,262 T54A probably benign Het
Usp33 T C 3: 152,380,628 V668A probably damaging Het
Vmn2r28 C A 7: 5,481,071 C710F possibly damaging Het
Vmn2r8 T A 5: 108,798,095 M549L probably benign Het
Vwa5b2 T C 16: 20,602,191 probably null Het
Wnk1 T C 6: 119,969,247 I648M probably 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
R0014:Exog UTSW 9 119452278 missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- CTCTGGGAGGAGCTGAGAG -3'
(R):5'- GCACCTGATAAACAATGCTGAA -3'

Sequencing Primer
(F):5'- TCCTGGGTCTGCAGAAGAATATACC -3'
(R):5'- TGCTGAATACATGAAGCAGAGCATC -3'
Posted On2015-05-19