Mutagenetix > Incidental Mutation

Incidental Mutation 'R9326:Exog'

706532

Institutional Source

Beutler Lab

Gene Symbol

Exog

Ensembl Gene

ENSMUSG00000042787

Gene Name

exo/endonuclease G

Synonyms

Endogl1, ENGL-B, ENDOGL2, ENGL-a

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R9326 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119274026-119294584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119291554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 277 (N277S)

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: N253S

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

SMART Domains

Protein: ENSMUSP00000035094
Gene: ENSMUSG00000042787
AA Change: N253S

Domain	Start	End	E-Value	Type
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: N277S

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

SMART Domains

Protein: ENSMUSP00000129273
Gene: ENSMUSG00000042787
AA Change: N277S

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,849,882 (GRCm39)	Y230*	probably null	Het
Adamts14	A	G	10: 61,036,238 (GRCm39)	S1015P	probably benign	Het
Adamts8	A	G	9: 30,854,886 (GRCm39)	T252A	probably benign	Het
Adamtsl1	T	A	4: 86,150,804 (GRCm39)	S149T	possibly damaging	Het
Afp	A	G	5: 90,652,205 (GRCm39)	K399E	probably damaging	Het
Atp8b1	T	A	18: 64,706,344 (GRCm39)	S222C	probably damaging	Het
Ccdc88c	C	A	12: 100,995,109 (GRCm39)		probably benign	Het
Cfap276	C	T	3: 108,451,931 (GRCm39)	R159W	probably damaging	Het
Cip2a	G	A	16: 48,834,235 (GRCm39)		probably null	Het
Cluh	A	G	11: 74,554,902 (GRCm39)	K780R	probably benign	Het
Cope	C	A	8: 70,755,516 (GRCm39)	F20L	possibly damaging	Het
Cps1	G	T	1: 67,248,795 (GRCm39)	R1174L	probably damaging	Het
Csmd1	G	A	8: 16,049,803 (GRCm39)	T2271I	probably benign	Het
Ctbp2	A	G	7: 132,616,359 (GRCm39)	I192T	probably benign	Het
Dcun1d4	A	G	5: 73,680,018 (GRCm39)	T106A	probably benign	Het
Ddb2	A	T	2: 91,047,559 (GRCm39)	M240K	probably benign	Het
Ddx20	A	T	3: 105,591,735 (GRCm39)	V145D	probably damaging	Het
Ddx31	A	G	2: 28,749,008 (GRCm39)	D268G	probably damaging	Het
Drc7	A	G	8: 95,801,886 (GRCm39)	I716V	probably benign	Het
Epb41l4a	G	T	18: 33,961,261 (GRCm39)	Y424*	probably null	Het
Fzd7	T	C	1: 59,522,837 (GRCm39)	L240P	possibly damaging	Het
Gpr87	T	C	3: 59,086,609 (GRCm39)	T299A	probably damaging	Het
Hecw2	A	G	1: 54,079,369 (GRCm39)	Y95H	probably damaging	Het
Idh1	T	C	1: 65,205,416 (GRCm39)	Y183C	probably damaging	Het
Ighv14-4	T	A	12: 114,140,469 (GRCm39)	I7F	possibly damaging	Het
Il1rap	A	T	16: 26,495,641 (GRCm39)	I83F	probably damaging	Het
Jag1	A	G	2: 136,931,745 (GRCm39)	S609P	probably benign	Het
Klhl33	T	C	14: 51,134,615 (GRCm39)	E9G	possibly damaging	Het
Lama2	A	G	10: 26,906,193 (GRCm39)	F2421L	probably benign	Het
Lmod2	A	T	6: 24,597,999 (GRCm39)	I40F	probably damaging	Het
Lsm5	A	T	6: 56,681,616 (GRCm39)	L13Q	possibly damaging	Het
Man2c1	G	T	9: 57,042,904 (GRCm39)	C258F	probably damaging	Het
Mgst1	T	C	6: 138,120,023 (GRCm39)	S28P	probably benign	Het
Msh3	A	T	13: 92,400,307 (GRCm39)	V744E	probably benign	Het
Mtx2	C	T	2: 74,656,287 (GRCm39)		probably benign	Het
N4bp3	C	T	11: 51,535,313 (GRCm39)	R292H	probably benign	Het
Neto2	A	T	8: 86,369,063 (GRCm39)	W354R	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nutm1	A	T	2: 112,078,692 (GRCm39)	S1074R	possibly damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or10ag56	T	A	2: 87,139,730 (GRCm39)	M219K	probably benign	Het
Or5aq1	T	C	2: 86,966,647 (GRCm39)	H6R	probably benign	Het
Or7g29	A	T	9: 19,286,346 (GRCm39)	M277K	probably damaging	Het
Or8s8	T	C	15: 98,354,935 (GRCm39)	V248A	probably damaging	Het
Pi4kb	T	A	3: 94,900,506 (GRCm39)		probably null	Het
Rgsl1	C	T	1: 153,679,768 (GRCm39)	D103N	probably benign	Het
Rrbp1	G	A	2: 143,806,744 (GRCm39)	T958M	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Setd2	T	C	9: 110,378,671 (GRCm39)	C829R	probably benign	Het
Snd1	A	T	6: 28,795,842 (GRCm39)	R562*	probably null	Het
Snx27	A	T	3: 94,409,369 (GRCm39)	Y526N	probably damaging	Het
Stab2	A	G	10: 86,791,010 (GRCm39)	L483P	probably damaging	Het
Sybu	A	G	15: 44,537,019 (GRCm39)	S436P	probably damaging	Het
Thy1	A	G	9: 43,957,983 (GRCm39)	D37G	probably damaging	Het
Tmed8	A	T	12: 87,221,395 (GRCm39)	I126N	probably damaging	Het
Tmem161b	T	A	13: 84,440,602 (GRCm39)	L340*	probably null	Het
Tpr	C	T	1: 150,301,407 (GRCm39)	A1331V	possibly damaging	Het
Tprg1	G	A	16: 25,136,107 (GRCm39)	E33K	probably benign	Het
Vps26b	T	C	9: 26,930,627 (GRCm39)	N123D	probably damaging	Het
Wdr7	G	A	18: 63,872,260 (GRCm39)	S398N	probably benign	Het
Zbtb48	T	C	4: 152,111,509 (GRCm39)	D2G	probably damaging	Het
Zfp975	G	A	7: 42,311,837 (GRCm39)	R259*	probably null	Het
Zfp986	T	A	4: 145,626,451 (GRCm39)	H370Q	probably damaging	Het

Other mutations in Exog

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGCAAAACCTGGGAAGTGTC -3'
(R):5'- AGAACCTTCTCCAGTCTGGC -3'

Sequencing Primer
(F):5'- AACCTGGGAAGTGTCGGCAC -3'
(R):5'- CGTGCTCAGGTACAGAGTGAATTC -3'

Posted On

2022-04-18