Mutagenetix > Incidental Mutation

Incidental Mutation 'R8425:Exo5'

653397

Institutional Source

Beutler Lab

Gene Symbol

Exo5

Ensembl Gene

ENSMUSG00000028629

Gene Name

exonuclease 5

Synonyms

Dem1, 3110037I16Rik

MMRRC Submission

067819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120778399-120782202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120779560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 102 (L102F)

Ref Sequence

ENSEMBL: ENSMUSP00000030375 (fasta)

Gene Model

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

AlphaFold

Q9CXP9

Predicted Effect

probably benign
Transcript: ENSMUST00000030375
AA Change: L102F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030375
Gene: ENSMUSG00000028629
AA Change: L102F

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 benign
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
AA Change: L102F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118041
Gene: ENSMUSG00000028629
AA Change: L102F

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
AA Change: L102F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000136408
Gene: ENSMUSG00000028629
AA Change: L102F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,324,745 (GRCm39)	E92G	possibly damaging	Het
Aasdh	A	T	5: 77,034,124 (GRCm39)	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,264,623 (GRCm39)	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,624,536 (GRCm39)	T788I	probably damaging	Het
Adgrb2	A	G	4: 129,898,850 (GRCm39)	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,735,035 (GRCm39)	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,483,666 (GRCm39)	L257Q	probably benign	Het
Agpat3	A	T	10: 78,118,211 (GRCm39)	V255E	possibly damaging	Het
Akap6	A	G	12: 52,933,404 (GRCm39)	I299V	probably benign	Het
Anapc1	A	T	2: 128,511,788 (GRCm39)	F468L	probably damaging	Het
Apob	T	A	12: 8,038,842 (GRCm39)	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,605,851 (GRCm39)	D232E	probably benign	Het
AW209491	A	G	13: 14,811,921 (GRCm39)	Y258C	probably damaging	Het
Bach2	C	T	4: 32,562,316 (GRCm39)	P261L	probably benign	Het
Cap2	T	A	13: 46,763,208 (GRCm39)	I146K	probably damaging	Het
Catsperb	A	T	12: 101,569,028 (GRCm39)	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,171,548 (GRCm39)	V310D	probably damaging	Het
Cenpe	G	T	3: 134,948,388 (GRCm39)	G1275*	probably null	Het
Chd8	C	T	14: 52,448,012 (GRCm39)	G1663D	probably damaging	Het
Col6a5	T	A	9: 105,823,156 (GRCm39)	Y67F	unknown	Het
Cuzd1	G	T	7: 130,919,720 (GRCm39)	T132K	possibly damaging	Het
Ddr2	T	A	1: 169,863,585 (GRCm39)		probably benign	Het
Ddx42	T	C	11: 106,138,550 (GRCm39)	I783T	probably benign	Het
Dennd4a	T	A	9: 64,746,256 (GRCm39)	D47E	probably damaging	Het
Dvl2	T	G	11: 69,898,673 (GRCm39)	W379G	probably damaging	Het
Ehbp1	A	G	11: 21,963,495 (GRCm39)	L1160P	probably damaging	Het
Eml6	A	G	11: 29,705,008 (GRCm39)	V1512A	probably benign	Het
Ephb6	T	C	6: 41,595,580 (GRCm39)	S780P	probably damaging	Het
Fam220a	A	T	5: 143,548,594 (GRCm39)	K2M	possibly damaging	Het
Fanci	A	T	7: 79,083,289 (GRCm39)	I731L	probably benign	Het
Gbp8	A	G	5: 105,165,640 (GRCm39)	S338P	probably damaging	Het
H2-M11	T	C	17: 36,859,649 (GRCm39)	I214T	probably benign	Het
Hhatl	C	A	9: 121,618,168 (GRCm39)	A196S	probably benign	Het
Hspg2	C	A	4: 137,278,178 (GRCm39)	C2988*	probably null	Het
Ifi213	A	G	1: 173,417,426 (GRCm39)	S329P	probably benign	Het
Lingo3	G	T	10: 80,670,816 (GRCm39)	F371L	probably benign	Het
Maml2	C	T	9: 13,531,413 (GRCm39)	T209I		Het
Ndufaf3	T	C	9: 108,444,182 (GRCm39)		probably benign	Het
Nfatc2	C	T	2: 168,378,216 (GRCm39)	G483E	probably damaging	Het
Npy6r	A	C	18: 44,409,070 (GRCm39)	T164P	probably benign	Het
Omg	T	C	11: 79,392,826 (GRCm39)	E344G	possibly damaging	Het
Or2g25	T	A	17: 37,970,975 (GRCm39)	N83I	probably damaging	Het
Or2h15	T	C	17: 38,441,927 (GRCm39)	D52G	possibly damaging	Het
Or4c116	T	A	2: 88,942,737 (GRCm39)	N40Y	probably damaging	Het
Or52n20	A	G	7: 104,320,502 (GRCm39)	N198D	probably damaging	Het
Or5k1	A	G	16: 58,617,966 (GRCm39)	M81T	probably benign	Het
Or9i1	T	C	19: 13,839,849 (GRCm39)	S231P	probably benign	Het
P2rx7	A	G	5: 122,808,521 (GRCm39)	E301G	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkhd1l1	T	C	15: 44,437,911 (GRCm39)	S3569P	probably benign	Het
Pkn3	G	A	2: 29,976,513 (GRCm39)		probably null	Het
Proc	C	T	18: 32,256,411 (GRCm39)	V419M	probably damaging	Het
Prss37	C	T	6: 40,493,052 (GRCm39)	W138*	probably null	Het
Prss52	T	A	14: 64,350,009 (GRCm39)	L212*	probably null	Het
Rnps1	A	G	17: 24,637,143 (GRCm39)	K8E	unknown	Het
Rpf2	A	T	10: 40,101,429 (GRCm39)	L202*	probably null	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Serpinb5	T	A	1: 106,809,515 (GRCm39)	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
Slc49a4	A	T	16: 35,555,967 (GRCm39)	N164K	probably benign	Het
Slfn8	T	A	11: 82,895,441 (GRCm39)	Q455L	possibly damaging	Het
Sv2b	A	G	7: 74,767,347 (GRCm39)	M683T	probably damaging	Het
Tacc3	G	T	5: 33,821,874 (GRCm39)	L211F	unknown	Het
Tbc1d8	A	G	1: 39,420,490 (GRCm39)	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,029,677 (GRCm39)	E493G	unknown	Het
Th	A	T	7: 142,447,823 (GRCm39)	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,641,421 (GRCm39)	V115G		Het
Usp40	G	A	1: 87,887,558 (GRCm39)	R915C	probably benign	Het
Wdr81	T	A	11: 75,342,348 (GRCm39)	H973L	possibly damaging	Het
Zdhhc6	A	G	19: 55,302,876 (GRCm39)	S42P	probably benign	Het
Zfp369	T	A	13: 65,444,489 (GRCm39)	I544N	possibly damaging	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
R5178: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
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'- AACACTGGAAACTCTCTGACG -3'
(R):5'- GAATCGGCTGTTTCACTTAGC -3'

Sequencing Primer
(F):5'- GAAACTCTCTGACGCGCCC -3'
(R):5'- GTTTCACTTAGCAAGCCTGG -3'

Posted On

2020-10-20