Incidental Mutation 'R0754:Exog'
ID 70374
Institutional Source Beutler Lab
Gene Symbol Exog
Ensembl Gene ENSMUSG00000042787
Gene Name exo/endonuclease G
Synonyms Endogl1, ENGL-B, ENDOGL2, ENGL-a
MMRRC Submission 038934-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R0754 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 119274026-119294584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119291572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 283 (Q283R)
Ref Sequence ENSEMBL: ENSMUSP00000129273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035094] [ENSMUST00000164213] [ENSMUST00000214140] [ENSMUST00000214462]
AlphaFold Q8C163
Predicted Effect probably benign
Transcript: ENSMUST00000035094
AA Change: Q259R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000035094
Gene: ENSMUSG00000042787
AA Change: Q259R

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 benign
Transcript: ENSMUST00000164213
AA Change: Q283R

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129273
Gene: ENSMUSG00000042787
AA Change: Q283R

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: 98.8%
  • 10x: 97.4%
  • 20x: 94.9%
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: 2 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Polr3a G A 14: 24,534,232 (GRCm39) P91L probably damaging Het
Sis T C 3: 72,859,864 (GRCm39) Q297R probably damaging 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
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
R5618:Exog UTSW 9 119,291,817 (GRCm39) missense probably damaging 0.99
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'- AGGCCGTTTCCTGTATGGCATC -3'
(R):5'- ACAGACCGGGCTCCATCAATCTTC -3'

Sequencing Primer
(F):5'- CCTGTATGGCATCTACAGAGG -3'
(R):5'- TCCTCGTGCTCAGGTACAG -3'
Posted On 2013-09-30