Incidental Mutation 'R2128:Endog'
ID 227691
Institutional Source Beutler Lab
Gene Symbol Endog
Ensembl Gene ENSMUSG00000015337
Gene Name endonuclease G
MMRRC Submission 040131-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2128 (G1)
Quality Score 140
Status Not validated
Chromosome 2
Chromosomal Location 30061525-30064057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30062048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 154 (D154E)
Ref Sequence ENSEMBL: ENSMUSP00000015481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015481] [ENSMUST00000100220]
AlphaFold O08600
Predicted Effect probably benign
Transcript: ENSMUST00000015481
AA Change: D154E

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000015481
Gene: ENSMUSG00000015337
AA Change: D154E

signal peptide 1 19 N/A INTRINSIC
low complexity region 30 62 N/A INTRINSIC
Endonuclease_NS 74 282 3.07e-79 SMART
NUC 75 282 3.37e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100220
SMART Domains Protein: ENSMUSP00000097793
Gene: ENSMUSG00000039660

coiled coil region 36 72 N/A INTRINSIC
Pfam:Methyltrn_RNA_3 75 365 2.5e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146466
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and have no detectable abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abca6 A G 11: 110,110,475 (GRCm39) I558T probably benign Het
Acot10 T C 15: 20,666,712 (GRCm39) T10A probably benign Het
Adgrl4 T A 3: 151,205,838 (GRCm39) D233E probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Arap1 T A 7: 101,058,527 (GRCm39) L1375H probably damaging Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Atp13a3 G A 16: 30,173,094 (GRCm39) A261V probably damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Cept1 A G 3: 106,420,195 (GRCm39) V213A probably damaging Het
Cit A G 5: 116,123,566 (GRCm39) D1469G possibly damaging Het
Cnga2 A G X: 71,051,394 (GRCm39) Y182C possibly damaging Het
Cox20 A G 1: 178,149,512 (GRCm39) I54V probably benign Het
Dhx8 C A 11: 101,629,235 (GRCm39) D261E probably benign Het
Dnah2 A T 11: 69,349,011 (GRCm39) I2486N probably benign Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Drd1 T C 13: 54,207,572 (GRCm39) Y207C probably damaging Het
Dtl C T 1: 191,290,222 (GRCm39) V222I probably damaging Het
Dync1h1 T C 12: 110,607,316 (GRCm39) Y2636H probably damaging Het
Epc1 A T 18: 6,462,954 (GRCm39) V14E probably damaging Het
Ercc4 C A 16: 12,965,798 (GRCm39) T810K probably damaging Het
Fam43b T A 4: 138,123,299 (GRCm39) N7I possibly damaging Het
Fgd1 T C X: 149,869,213 (GRCm39) probably null Het
Filip1 G T 9: 79,726,612 (GRCm39) T669N probably damaging Het
Fndc1 A G 17: 7,997,497 (GRCm39) probably benign Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Gatm T C 2: 122,431,017 (GRCm39) N274S probably damaging Het
Gdf9 A G 11: 53,328,334 (GRCm39) Y430C probably damaging Het
Gga1 C T 15: 78,772,648 (GRCm39) P260S probably damaging Het
Gm11595 A T 11: 99,663,327 (GRCm39) C118S unknown Het
Gm382 G T X: 125,970,274 (GRCm39) V820L possibly damaging Het
Gzmk T A 13: 113,308,548 (GRCm39) I179F probably damaging Het
Hsp90b1 T C 10: 86,531,570 (GRCm39) D421G probably damaging Het
Hus1 A G 11: 8,956,011 (GRCm39) M174T probably damaging Het
Ifngr2 T A 16: 91,359,761 (GRCm39) Y289* probably null Het
Il6st T A 13: 112,640,709 (GRCm39) H828Q probably benign Het
Impg2 T A 16: 56,038,742 (GRCm39) Y127N probably damaging Het
Irf3 T A 7: 44,651,168 (GRCm39) W345R probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Klhl42 A G 6: 147,003,251 (GRCm39) T342A probably benign Het
Kndc1 G T 7: 139,510,025 (GRCm39) R1289L probably damaging Het
Knl1 A T 2: 118,902,300 (GRCm39) T1334S possibly damaging Het
L3mbtl3 G T 10: 26,189,766 (GRCm39) D499E unknown Het
Ldhd T A 8: 112,353,680 (GRCm39) M478L probably benign Het
Loxl4 C G 19: 42,592,402 (GRCm39) E385D probably damaging Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 T A 4: 123,386,567 (GRCm39) I1017F probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mamdc4 T C 2: 25,459,270 (GRCm39) D195G probably damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Mycbp2 T C 14: 103,438,666 (GRCm39) M2072V probably benign Het
Nck1 A G 9: 100,379,600 (GRCm39) probably null Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Nek11 A T 9: 105,177,560 (GRCm39) D230E probably benign Het
Nit2 T C 16: 56,981,559 (GRCm39) K67E possibly damaging Het
Or12j2 C T 7: 139,916,342 (GRCm39) T189M probably damaging Het
Or5ae1 T C 7: 84,565,701 (GRCm39) F238S probably damaging Het
Or6a2 T C 7: 106,600,455 (GRCm39) D204G probably damaging Het
Or6c1 A T 10: 129,518,401 (GRCm39) V69E possibly damaging Het
Pakap A G 4: 57,854,890 (GRCm39) Y134C probably benign Het
Pccb G C 9: 100,867,884 (GRCm39) D347E probably damaging Het
Plcl1 T A 1: 55,736,997 (GRCm39) F779L probably damaging Het
Prune2 C A 19: 17,099,786 (GRCm39) D1763E probably benign Het
Pwwp2a A G 11: 43,596,145 (GRCm39) S437G probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rapgef4 T A 2: 72,056,897 (GRCm39) I552N possibly damaging Het
Scn7a A T 2: 66,528,330 (GRCm39) I720K probably damaging Het
Scn9a T A 2: 66,356,998 (GRCm39) N1101I probably damaging Het
Siglec1 A T 2: 130,922,417 (GRCm39) Y553N probably damaging Het
Slc22a23 A G 13: 34,387,953 (GRCm39) L381P possibly damaging Het
Slc7a11 T A 3: 50,338,558 (GRCm39) T284S probably damaging Het
Slc8a2 T A 7: 15,874,417 (GRCm39) probably null Het
Snx29 T A 16: 11,218,835 (GRCm39) S224T probably damaging Het
Stimate T C 14: 30,588,581 (GRCm39) Y103H probably damaging Het
Stox1 T C 10: 62,500,314 (GRCm39) T749A probably benign Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Top2a A C 11: 98,900,633 (GRCm39) V609G probably damaging Het
Trmt44 G A 5: 35,732,176 (GRCm39) P72S probably benign Het
Ttll3 G C 6: 113,389,895 (GRCm39) S760T probably benign Het
Ttn T C 2: 76,579,022 (GRCm39) D23957G probably damaging Het
Ttn G A 2: 76,664,241 (GRCm39) probably benign Het
Ubxn1 T G 19: 8,849,434 (GRCm39) V59G probably benign Het
Ubxn4 T C 1: 128,172,247 (GRCm39) S14P probably benign Het
Uso1 T A 5: 92,343,229 (GRCm39) M771K probably benign Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Vmn2r19 A G 6: 123,285,289 (GRCm39) probably null Het
Vps36 G T 8: 22,708,305 (GRCm39) probably null Het
Wnt3 A G 11: 103,703,474 (GRCm39) H319R possibly damaging Het
Zbtb26 G T 2: 37,326,563 (GRCm39) Q158K probably benign Het
Zfp648 T C 1: 154,080,353 (GRCm39) S171P probably benign Het
Other mutations in Endog
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Endog APN 2 30,062,912 (GRCm39) missense probably damaging 1.00
IGL01285:Endog APN 2 30,061,975 (GRCm39) splice site probably null
R1610:Endog UTSW 2 30,063,899 (GRCm39) missense probably damaging 1.00
R5485:Endog UTSW 2 30,061,663 (GRCm39) unclassified probably benign
R6022:Endog UTSW 2 30,062,921 (GRCm39) missense possibly damaging 0.74
R6975:Endog UTSW 2 30,061,648 (GRCm39) unclassified probably benign
R7214:Endog UTSW 2 30,062,902 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-09-17