Incidental Mutation 'R5618:Exog'
ID 439649
Institutional Source Beutler Lab
Gene Symbol Exog
Ensembl Gene ENSMUSG00000042787
Gene Name exo/endonuclease G
Synonyms Endogl1, ENGL-B, ENDOGL2, ENGL-a
MMRRC Submission 043277-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R5618 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 119274026-119294584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119291817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 365 (D365Y)
Ref Sequence ENSEMBL: ENSMUSP00000129273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035094] [ENSMUST00000164213] [ENSMUST00000214140] [ENSMUST00000214462]
AlphaFold Q8C163
Predicted Effect probably damaging
Transcript: ENSMUST00000035094
AA Change: D341Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035094
Gene: ENSMUSG00000042787
AA Change: D341Y

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: D365Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129273
Gene: ENSMUSG00000042787
AA Change: D365Y

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik G A 5: 107,696,065 (GRCm39) W167* probably null Het
Acvr1 C T 2: 58,352,955 (GRCm39) R335Q probably damaging Het
Atg7 A G 6: 114,650,660 (GRCm39) D67G probably damaging Het
Avil T C 10: 126,846,446 (GRCm39) F417S possibly damaging Het
AW551984 A T 9: 39,502,000 (GRCm39) L702Q probably damaging Het
Bcl7a A T 5: 123,499,265 (GRCm39) N95Y probably damaging Het
Cblb A G 16: 51,973,031 (GRCm39) D454G possibly damaging Het
Cc2d2a A T 5: 43,887,249 (GRCm39) Q1226H probably benign Het
Cct5 A G 15: 31,598,161 (GRCm39) S13P possibly damaging Het
Clca3a1 C T 3: 144,710,738 (GRCm39) E822K probably benign Het
Csgalnact2 A T 6: 118,103,277 (GRCm39) D228E probably damaging Het
Defb12 A T 8: 19,164,814 (GRCm39) M8K possibly damaging Het
Dipk1b T C 2: 26,524,887 (GRCm39) S96P probably damaging Het
Dysf A G 6: 84,083,806 (GRCm39) D736G probably benign Het
Fam222b T G 11: 78,045,066 (GRCm39) V81G probably benign Het
Fbl A G 7: 27,878,411 (GRCm39) E301G probably damaging Het
Fez1 A T 9: 36,755,228 (GRCm39) N76Y probably damaging Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
H2-Q4 T A 17: 35,598,901 (GRCm39) F57Y probably damaging Het
Ift88 T C 14: 57,718,965 (GRCm39) I650T possibly damaging Het
Kif1b A T 4: 149,354,346 (GRCm39) D231E possibly damaging Het
Lig4 A T 8: 10,022,021 (GRCm39) D586E probably benign Het
Mlc1 C A 15: 88,858,769 (GRCm39) L126F probably damaging Het
Muc4 A G 16: 32,754,253 (GRCm38) T1376A probably benign Het
Ncoa6 A T 2: 155,279,817 (GRCm39) D66E possibly damaging Het
Or6ae1 A G 7: 139,742,185 (GRCm39) V226A probably damaging Het
Or8b44 C T 9: 38,410,036 (GRCm39) Q24* probably null Het
Pard6a T C 8: 106,429,546 (GRCm39) V168A probably damaging Het
Pmpcb A G 5: 21,947,786 (GRCm39) N163S possibly damaging Het
Pramel27 A T 4: 143,577,263 (GRCm39) E15V possibly damaging Het
Prdm2 C T 4: 142,860,107 (GRCm39) C1061Y probably benign Het
Prkdc A G 16: 15,627,476 (GRCm39) Y3378C probably damaging Het
Sema6a A T 18: 47,415,015 (GRCm39) V425E probably damaging Het
Sema7a A T 9: 57,867,566 (GRCm39) E439D possibly damaging Het
Serpinf1 T A 11: 75,301,010 (GRCm39) T402S possibly damaging Het
Sf3a2 T C 10: 80,640,410 (GRCm39) probably benign Het
Skic3 T A 13: 76,321,545 (GRCm39) S1346T probably benign Het
Smchd1 A T 17: 71,762,722 (GRCm39) D172E probably damaging Het
Spag5 T G 11: 78,194,906 (GRCm39) I71S probably benign Het
Spata31d1d G A 13: 59,874,214 (GRCm39) A1107V probably benign Het
Svep1 A C 4: 58,070,537 (GRCm39) S2416R probably benign Het
Tbc1d9 A G 8: 83,969,221 (GRCm39) Y503C probably damaging Het
Tlr9 A T 9: 106,101,938 (GRCm39) I410F possibly damaging Het
Tmem87a C A 2: 120,199,787 (GRCm39) L452F probably benign Het
Tmprss11d A T 5: 86,454,154 (GRCm39) M217K probably benign Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Vmn2r80 T C 10: 78,984,755 (GRCm39) Y36H probably benign Het
Vmn2r87 A T 10: 130,315,817 (GRCm39) F83Y probably damaging Het
Vmp1 C T 11: 86,554,388 (GRCm39) R75H probably benign Het
Wapl T A 14: 34,413,863 (GRCm39) Y242N possibly damaging Het
Zfp473 T A 7: 44,391,156 (GRCm39) D6V probably benign Het
Other mutations in Exog
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Exog APN 9 119,291,592 (GRCm39) missense probably damaging 0.98
IGL03013:Exog APN 9 119,291,679 (GRCm39) missense possibly damaging 0.86
IGL03399:Exog APN 9 119,276,017 (GRCm39) missense possibly damaging 0.83
R0014:Exog UTSW 9 119,281,344 (GRCm39) missense probably damaging 0.96
R0102:Exog UTSW 9 119,281,319 (GRCm39) missense possibly damaging 0.83
R0102:Exog UTSW 9 119,281,319 (GRCm39) missense possibly damaging 0.83
R0508:Exog UTSW 9 119,277,444 (GRCm39) splice site probably benign
R0754:Exog UTSW 9 119,291,572 (GRCm39) missense probably benign 0.15
R1389:Exog UTSW 9 119,291,572 (GRCm39) missense probably benign 0.15
R1552:Exog UTSW 9 119,274,176 (GRCm39) missense unknown
R1777:Exog UTSW 9 119,278,884 (GRCm39) missense probably damaging 1.00
R1961:Exog UTSW 9 119,281,332 (GRCm39) missense possibly damaging 0.92
R3085:Exog UTSW 9 119,291,518 (GRCm39) missense probably benign 0.42
R3799:Exog UTSW 9 119,278,876 (GRCm39) missense probably damaging 1.00
R7310:Exog UTSW 9 119,274,069 (GRCm39) missense unknown
R7320:Exog UTSW 9 119,291,544 (GRCm39) missense possibly damaging 0.63
R8528:Exog UTSW 9 119,291,686 (GRCm39) missense probably damaging 1.00
R8693:Exog UTSW 9 119,276,108 (GRCm39) missense possibly damaging 0.51
R9326:Exog UTSW 9 119,291,554 (GRCm39) missense probably damaging 1.00
R9662:Exog UTSW 9 119,281,376 (GRCm39) missense probably benign
R9733:Exog UTSW 9 119,291,586 (GRCm39) missense possibly damaging 0.82
Z1177:Exog UTSW 9 119,277,564 (GRCm39) missense probably damaging 0.99
Z1177:Exog UTSW 9 119,274,146 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GACCTGGAGAAGATGTCAGGTC -3'
(R):5'- ACTGAGTTTTGAGCCCCGAG -3'

Sequencing Primer
(F):5'- TTTCCCCCGTCTGGATAGAAG -3'
(R):5'- TGAGCCCCGAGTCTTTGGAG -3'
Posted On 2016-11-08