Mutagenetix > Incidental Mutation

Incidental Mutation 'R8693:Exog'

668509

Institutional Source

Beutler Lab

Gene Symbol

Exog

Ensembl Gene

ENSMUSG00000042787

Gene Name

exo/endonuclease G

Synonyms

Endogl1, ENGL-B, ENDOGL2, ENGL-a

MMRRC Submission

068547-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R8693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119274026-119294584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119276108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 110 (Q110R)

Ref Sequence

ENSEMBL: ENSMUSP00000129273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035094] [ENSMUST00000164213] [ENSMUST00000214140] [ENSMUST00000214462]

AlphaFold

Q8C163

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035094
AA Change: Q86R

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035094
Gene: ENSMUSG00000042787
AA Change: Q86R

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

possibly damaging
Transcript: ENSMUST00000164213
AA Change: Q110R

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129273
Gene: ENSMUSG00000042787
AA Change: Q110R

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 damaging
Transcript: ENSMUST00000214140
AA Change: Q86R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000214462

Coding Region Coverage

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,810,474 (GRCm39)	S924P	probably benign	Het
Acacb	A	G	5: 114,364,844 (GRCm39)	H1508R	probably damaging	Het
Adam34	T	C	8: 44,104,641 (GRCm39)	M335V	probably benign	Het
Akap8	A	T	17: 32,529,625 (GRCm39)	N438K	probably damaging	Het
Alpi	C	A	1: 87,026,405 (GRCm39)	G529C	unknown	Het
Arhgap30	T	C	1: 171,225,094 (GRCm39)	V50A	probably damaging	Het
Armh1	T	C	4: 117,088,960 (GRCm39)	E145G	probably damaging	Het
Ccdc177	A	G	12: 80,804,582 (GRCm39)	L564P	unknown	Het
Cdk12	C	T	11: 98,141,133 (GRCm39)	P1458L	unknown	Het
Chek1	A	G	9: 36,625,140 (GRCm39)	F314L	probably benign	Het
Cndp1	T	C	18: 84,646,938 (GRCm39)	D250G	probably damaging	Het
Cnot3	T	C	7: 3,656,522 (GRCm39)	V239A	probably benign	Het
Cplane1	T	C	15: 8,258,492 (GRCm39)	M2246T	probably benign	Het
Crhr2	A	G	6: 55,079,779 (GRCm39)	F187S	possibly damaging	Het
Dchs2	T	A	3: 83,192,631 (GRCm39)	V1692D	probably damaging	Het
Dctd	T	A	8: 48,565,046 (GRCm39)	I57N	probably damaging	Het
Dennd5b	A	T	6: 148,911,272 (GRCm39)	L977*	probably null	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dysf	T	C	6: 84,088,952 (GRCm39)	S865P	probably damaging	Het
Eif2ak3	A	T	6: 70,858,535 (GRCm39)	I275F	possibly damaging	Het
Eif2ak4	T	A	2: 118,262,718 (GRCm39)	I757N	probably damaging	Het
Fbxl4	T	C	4: 22,403,704 (GRCm39)	C426R	probably benign	Het
Fndc11	A	C	2: 180,863,864 (GRCm39)	H223P	probably damaging	Het
Frmd3	T	A	4: 74,080,286 (GRCm39)	S334R	probably damaging	Het
Galnt14	A	T	17: 73,833,257 (GRCm39)	I239N	probably damaging	Het
Gm5930	C	T	14: 44,576,015 (GRCm39)	M1I	probably null	Het
Igkv4-63	A	G	6: 69,355,051 (GRCm39)	S77P	probably benign	Het
Igkv5-48	G	A	6: 69,703,779 (GRCm39)	S42F	probably damaging	Het
Kalrn	T	A	16: 33,854,884 (GRCm39)	Y1992F	probably damaging	Het
Kmt2a	T	C	9: 44,721,981 (GRCm39)	Y3788C	unknown	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lpo	T	C	11: 87,700,066 (GRCm39)	N525S	probably benign	Het
Med1	T	C	11: 98,046,599 (GRCm39)	H1399R	unknown	Het
Mga	T	A	2: 119,794,407 (GRCm39)	V2697E	possibly damaging	Het
Msto1	T	C	3: 88,819,184 (GRCm39)	T188A	probably benign	Het
Nrap	T	C	19: 56,310,384 (GRCm39)	H1456R	probably damaging	Het
Or10d1	G	T	9: 39,483,800 (GRCm39)	P252T	probably damaging	Het
Pbld1	A	T	10: 62,910,890 (GRCm39)	K248*	probably null	Het
Pcdhb12	G	A	18: 37,570,474 (GRCm39)	R540H	probably benign	Het
Pcx	G	T	19: 4,652,039 (GRCm39)	A96S	probably damaging	Het
Plcb1	A	G	2: 135,094,696 (GRCm39)	I174V	probably benign	Het
Psme3	T	C	11: 101,211,422 (GRCm39)	I193T	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rph3a	A	T	5: 121,100,501 (GRCm39)	H132Q	probably damaging	Het
Scrib	C	A	15: 75,936,354 (GRCm39)	D501Y	probably damaging	Het
Sdad1	C	A	5: 92,452,857 (GRCm39)	R127L	probably benign	Het
Setdb1	T	C	3: 95,249,041 (GRCm39)	T356A	probably damaging	Het
Sh3bgrl3	T	C	4: 133,855,116 (GRCm39)	D73G	probably benign	Het
Sipa1l1	G	T	12: 82,216,517 (GRCm39)		probably benign	Het
Slc17a8	G	A	10: 89,428,758 (GRCm39)	A261V	probably benign	Het
Sox6	T	A	7: 115,261,632 (GRCm39)	I195F	probably damaging	Het
Syne1	T	C	10: 5,090,928 (GRCm39)	K809E	possibly damaging	Het
Tmem30c	G	A	16: 57,086,855 (GRCm39)	T316M	probably damaging	Het
Tnfrsf19	T	C	14: 61,208,451 (GRCm39)	T357A	probably benign	Het
Top2a	T	A	11: 98,900,868 (GRCm39)	T574S	probably damaging	Het
Trappc3l	G	A	10: 33,974,917 (GRCm39)	C133Y	probably damaging	Het
Unk	C	T	11: 115,938,640 (GRCm39)	T81I	probably damaging	Het
Vamp1	G	A	6: 125,217,388 (GRCm39)	R144K	unknown	Het
Wnt9b	T	C	11: 103,624,487 (GRCm39)	N101S	probably damaging	Het
Wwtr1	T	A	3: 57,369,945 (GRCm39)	D390V	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
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'- GAGTCAGACTCCTAGGAGAGAC -3'
(R):5'- ATCACTTTCAACGTGTGCTATG -3'

Sequencing Primer
(F):5'- ACTCCTAGGAGAGACTTTTGAGCC -3'
(R):5'- CACTTTCAACGTGTGCTATGAGGTAC -3'

Posted On

2021-04-30