Mutagenetix > Incidental Mutation

Incidental Mutation 'R5178:Exo5'

399452

Institutional Source

Beutler Lab

Gene Symbol

Exo5

Ensembl Gene

ENSMUSG00000028629

Gene Name

exonuclease 5

Synonyms

Dem1, 3110037I16Rik

MMRRC Submission

042758-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120778399-120782202 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 120778734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030375] [ENSMUST00000144114] [ENSMUST00000156836] [ENSMUST00000177880]

AlphaFold

Q9CXP9

Predicted Effect

probably benign
Transcript: ENSMUST00000030375

SMART Domains

Protein: ENSMUSP00000030375
Gene: ENSMUSG00000028629

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Exo5	71	355	1.3e-82	PFAM
Pfam:PDDEXK_1	92	353	2.4e-6	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000144114

SMART Domains

Protein: ENSMUSP00000116454
Gene: ENSMUSG00000028629

Domain	Start	End	E-Value	Type
Pfam:Exo5	1	141	2.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156836

SMART Domains

Protein: ENSMUSP00000118041
Gene: ENSMUSG00000028629

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Exo5	71	133	1.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177880

SMART Domains

Protein: ENSMUSP00000136408
Gene: ENSMUSG00000028629

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Exo5	71	196	1.1e-30	PFAM
Pfam:PDDEXK_1	94	353	6.5e-7	PFAM
Pfam:Exo5	190	355	1.5e-28	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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 single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sliding of the encoded protein, providing a 5'-directionality to the enzyme. This protein localizes to nuclear repair loci after DNA damage. [provided by RefSeq, Nov 2016]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	G	T	13: 23,606,819 (GRCm39)	A94E	possibly damaging	Het
Carmil2	G	T	8: 106,423,521 (GRCm39)	G1207V	probably damaging	Het
Cndp2	A	T	18: 84,693,153 (GRCm39)	N202K	probably benign	Het
Cyp2c66	A	G	19: 39,159,473 (GRCm39)	Y308C	probably damaging	Het
Dhx29	T	G	13: 113,069,134 (GRCm39)	S155A	possibly damaging	Het
Dnah7b	T	G	1: 46,397,376 (GRCm39)	F3936V	possibly damaging	Het
Dsg1b	G	A	18: 20,530,560 (GRCm39)	G405E	probably damaging	Het
Fam171b	T	C	2: 83,710,331 (GRCm39)	F668L	probably damaging	Het
Gemin5	A	T	11: 58,037,344 (GRCm39)	S624T	probably benign	Het
Gpc2	C	A	5: 138,273,867 (GRCm39)	V444L	possibly damaging	Het
Hephl1	T	A	9: 14,997,468 (GRCm39)	K399N	probably damaging	Het
Lair1	G	A	7: 4,013,488 (GRCm39)	T82I	possibly damaging	Het
Lhx1	G	T	11: 84,411,214 (GRCm39)	A155E	possibly damaging	Het
Maip1	G	A	1: 57,454,849 (GRCm39)	D278N	probably benign	Het
Mcm4	T	A	16: 15,453,167 (GRCm39)	D174V	probably benign	Het
Mcph1	T	A	8: 18,657,342 (GRCm39)	D60E	probably damaging	Het
Mmp17	T	A	5: 129,672,122 (GRCm39)	W132R	probably damaging	Het
Or4p7	C	T	2: 88,221,819 (GRCm39)	T76I	possibly damaging	Het
Or7e174	T	A	9: 20,012,488 (GRCm39)	C144*	probably null	Het
Pds5a	T	C	5: 65,821,218 (GRCm39)	T169A	probably damaging	Het
Pfkm	A	G	15: 98,029,396 (GRCm39)	N697D	probably benign	Het
Pira1	T	A	7: 3,742,396 (GRCm39)	K44*	probably null	Het
Ppwd1	A	T	13: 104,356,943 (GRCm39)	S191T	probably benign	Het
Ranbp2	T	A	10: 58,312,607 (GRCm39)	M1109K	probably benign	Het
Robo4	T	C	9: 37,319,256 (GRCm39)	W535R	probably damaging	Het
Rsf1	A	G	7: 97,311,079 (GRCm39)	D603G	possibly damaging	Het
Slc22a26	T	C	19: 7,767,540 (GRCm39)	T289A	possibly damaging	Het
Sp2	A	G	11: 96,846,664 (GRCm39)	F554L	probably benign	Het
Sp4	A	G	12: 118,225,624 (GRCm39)	V580A	possibly damaging	Het
Tbc1d19	T	A	5: 54,046,667 (GRCm39)	S413T	possibly damaging	Het
Tecta	T	C	9: 42,286,481 (GRCm39)	D725G	probably damaging	Het
Tmem200a	T	A	10: 25,870,277 (GRCm39)	Q4H	probably benign	Het
Tpx2	T	A	2: 152,717,469 (GRCm39)	I122N	probably benign	Het
Trgc4	A	G	13: 19,528,932 (GRCm39)		probably benign	Het
Ube4b	T	C	4: 149,427,449 (GRCm39)	M900V	probably damaging	Het
Vmn1r87	G	T	7: 12,865,792 (GRCm39)	A165E	possibly damaging	Het
Vmn2r95	A	G	17: 18,660,337 (GRCm39)	T250A	probably benign	Het
Wasf1	G	A	10: 40,813,672 (GRCm39)	R518H	unknown	Het
Zfhx2	A	T	14: 55,312,232 (GRCm39)	F154Y	probably benign	Het
Zfp729a	A	G	13: 67,785,764 (GRCm39)		probably null	Het
Zfp976	A	G	7: 42,261,925 (GRCm39)		probably null	Het

Other mutations in Exo5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02932:Exo5	APN	4	120,779,742 (GRCm39)	missense	probably benign	0.01
IGL03063:Exo5	APN	4	120,778,830 (GRCm39)	missense	possibly damaging	0.60
R0417:Exo5	UTSW	4	120,779,269 (GRCm39)	missense	probably damaging	1.00
R0540:Exo5	UTSW	4	120,779,178 (GRCm39)	missense	probably damaging	0.99
R0609:Exo5	UTSW	4	120,778,881 (GRCm39)	missense	probably damaging	1.00
R1126:Exo5	UTSW	4	120,779,322 (GRCm39)	missense	probably damaging	1.00
R2401:Exo5	UTSW	4	120,779,194 (GRCm39)	missense	probably damaging	0.97
R4658:Exo5	UTSW	4	120,779,748 (GRCm39)	missense	probably benign
R5093:Exo5	UTSW	4	120,779,514 (GRCm39)	missense	probably damaging	1.00
R5125:Exo5	UTSW	4	120,778,734 (GRCm39)	critical splice donor site	probably null
R6492:Exo5	UTSW	4	120,778,734 (GRCm39)	utr 3 prime	probably benign
R6736:Exo5	UTSW	4	120,778,953 (GRCm39)	missense	probably damaging	0.99
R7602:Exo5	UTSW	4	120,778,818 (GRCm39)	missense	probably benign	0.00
R8425:Exo5	UTSW	4	120,779,560 (GRCm39)	missense	probably benign	0.04
R8699:Exo5	UTSW	4	120,779,193 (GRCm39)	missense	probably damaging	1.00
R8806:Exo5	UTSW	4	120,779,602 (GRCm39)	missense	probably benign	0.01
R9057:Exo5	UTSW	4	120,779,186 (GRCm39)	missense	probably damaging	1.00
R9448:Exo5	UTSW	4	120,778,888 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAAGCTCCAAGGTCACTC -3'
(R):5'- GGCACAGAGATTGTAGCCTTTG -3'

Sequencing Primer
(F):5'- TGAAAGCTCCAAGGTCACTCTAACAC -3'
(R):5'- CACAGAGATTGTAGCCTTTGAAGAG -3'

Posted On

2016-07-06