Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00331:Endog'

7243

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Endog

Ensembl Gene

ENSMUSG00000015337

Gene Name

endonuclease G

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00331

Quality Score

Status

Chromosome

Chromosomal Location

30061525-30064057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30062912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 184 (T184M)

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: T184M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015481
Gene: ENSMUSG00000015337
AA Change: T184M

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000146466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144093

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	A	1: 74,320,595 (GRCm39)		probably benign	Het
Adamts19	T	A	18: 59,140,397 (GRCm39)		probably benign	Het
Afg3l1	T	A	8: 124,214,128 (GRCm39)	F190I	probably benign	Het
Alms1	T	A	6: 85,618,353 (GRCm39)	S2800T	possibly damaging	Het
Alox5	A	T	6: 116,392,478 (GRCm39)	W348R	probably damaging	Het
Atp13a5	G	A	16: 29,085,766 (GRCm39)	Q823*	probably null	Het
Atp6v1b2	T	C	8: 69,541,586 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,076,462 (GRCm39)	I416M	possibly damaging	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Dmbt1	A	T	7: 130,701,020 (GRCm39)	Q1066L	possibly damaging	Het
Dnah5	A	G	15: 28,421,766 (GRCm39)	T3873A	probably damaging	Het
Fcgbp	T	C	7: 27,800,966 (GRCm39)		probably benign	Het
Flii	A	G	11: 60,606,659 (GRCm39)	I1061T	probably benign	Het
Hdac2	T	A	10: 36,873,067 (GRCm39)	N308K	probably damaging	Het
Hoxa2	T	G	6: 52,140,497 (GRCm39)	Y163S	probably damaging	Het
Hsd3b7	T	C	7: 127,402,144 (GRCm39)	L263P	probably damaging	Het
Klf17	T	C	4: 117,618,235 (GRCm39)	T41A	probably benign	Het
Lrrfip1	T	C	1: 90,996,343 (GRCm39)	M42T	probably damaging	Het
Mapk8ip1	C	T	2: 92,215,533 (GRCm39)	V614I	probably benign	Het
Mocs1	T	G	17: 49,742,292 (GRCm39)		probably null	Het
Moxd1	T	C	10: 24,158,453 (GRCm39)		probably benign	Het
Mterf1a	T	C	5: 3,941,610 (GRCm39)	E86G	probably damaging	Het
Muc4	A	G	16: 32,574,613 (GRCm39)	D1021G	probably benign	Het
Nomo1	T	C	7: 45,694,760 (GRCm39)	S212P	possibly damaging	Het
Or5b116	A	G	19: 13,422,988 (GRCm39)	D204G	probably benign	Het
Or8c15	T	A	9: 38,120,534 (GRCm39)	Y60N	probably damaging	Het
Phf21a	A	C	2: 92,178,374 (GRCm39)	T385P	probably damaging	Het
Piwil4	A	T	9: 14,626,327 (GRCm39)		probably benign	Het
Pknox1	T	C	17: 31,818,619 (GRCm39)		probably null	Het
Prr14l	T	C	5: 32,988,410 (GRCm39)	I362V	probably benign	Het
Sergef	C	T	7: 46,284,844 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,572,511 (GRCm39)	D948G	probably damaging	Het
Skor1	A	T	9: 63,053,723 (GRCm39)	L54Q	probably damaging	Het
Sntn	C	T	14: 13,679,086 (GRCm38)	Q87*	probably null	Het
Syde2	A	G	3: 145,720,096 (GRCm39)	K772E	possibly damaging	Het
Taf2	T	A	15: 54,934,845 (GRCm39)		probably null	Het
Tbc1d13	T	A	2: 30,030,523 (GRCm39)	Y113N	probably damaging	Het
Tmem154	T	C	3: 84,591,722 (GRCm39)	F91L	probably benign	Het
Tmem63a	A	G	1: 180,794,062 (GRCm39)	D533G	possibly damaging	Het
Tmprss15	A	T	16: 78,782,882 (GRCm39)	N712K	possibly damaging	Het
Trip12	A	T	1: 84,708,262 (GRCm39)	D603E	probably damaging	Het
Trmt11	T	C	10: 30,442,445 (GRCm39)	D246G	probably damaging	Het
Vmn1r174	T	A	7: 23,453,958 (GRCm39)	M208K	possibly damaging	Het
Wdr54	T	C	6: 83,132,755 (GRCm39)	H33R	probably benign	Het
Zfp207	A	G	11: 80,279,828 (GRCm39)	D111G	probably benign	Het

Other mutations in Endog

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20