Incidental Mutation 'R1610:Endog'
ID 176707
Institutional Source Beutler Lab
Gene Symbol Endog
Ensembl Gene ENSMUSG00000015337
Gene Name endonuclease G
Synonyms
MMRRC Submission 039647-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 30061525-30064057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30063899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 267 (I267F)
Ref Sequence ENSEMBL: ENSMUSP00000015481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015481] [ENSMUST00000100220]
AlphaFold O08600
Predicted Effect probably damaging
Transcript: ENSMUST00000015481
AA Change: I267F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015481
Gene: ENSMUSG00000015337
AA Change: I267F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I 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
R2128:Endog UTSW 2 30,062,048 (GRCm39) missense probably benign 0.12
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
(F):5'- GGTTAAGCATTGGTCCCCACCTTAC -3'
(R):5'- TTCCAGGAGGCCATACTCATCTCG -3'

Sequencing Primer
(F):5'- cttgttggaagttaggaaggc -3'
(R):5'- CTTTCTGGACCCAGGATGTAG -3'
Posted On 2014-04-24