Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:Exo1'

222444

Institutional Source

Beutler Lab

Gene Symbol

Exo1

Ensembl Gene

ENSMUSG00000039748

Gene Name

exonuclease 1

Synonyms

5730442G03Rik, Msa

MMRRC Submission

040016-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.415) question?

Stock #

R2007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

175708334-175738962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 175736096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 827 (E827K)

Ref Sequence

ENSEMBL: ENSMUSP00000039376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039725]

AlphaFold

Q9QZ11

Predicted Effect

probably damaging
Transcript: ENSMUST00000039725
AA Change: E827K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039376
Gene: ENSMUSG00000039748
AA Change: E827K

Domain	Start	End	E-Value	Type
XPGN	1	99	6.24e-38	SMART
XPGI	138	208	4.56e-31	SMART
HhH2	212	245	2.28e-8	SMART
Blast:XPGI	252	288	4e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193610

Predicted Effect

probably benign
Transcript: ENSMUST00000194636

Predicted Effect

probably benign
Transcript: ENSMUST00000194816

Meta Mutation Damage Score

0.3357

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced life span, lymphoma development, and male/female sterilty due to defective meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,519,855 (GRCm39)	N1387K	probably benign	Het
Abca13	T	C	11: 9,141,987 (GRCm39)	F8L	probably benign	Het
Abcg5	G	T	17: 84,977,348 (GRCm39)	L270M	probably damaging	Het
Acad10	A	G	5: 121,772,814 (GRCm39)	L489S	probably damaging	Het
Acsf2	G	A	11: 94,462,466 (GRCm39)	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,059,909 (GRCm39)	E282V	probably damaging	Het
Adcy4	C	T	14: 56,015,770 (GRCm39)	G440R	possibly damaging	Het
AI429214	G	A	8: 37,460,923 (GRCm39)	V24I	probably benign	Het
Angptl3	T	C	4: 98,925,634 (GRCm39)	I320T	probably damaging	Het
Apoa5	A	T	9: 46,181,665 (GRCm39)	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,436,875 (GRCm39)	V811G	probably damaging	Het
Bard1	C	T	1: 71,070,562 (GRCm39)	V641I	probably benign	Het
Calb2	T	C	8: 110,894,702 (GRCm39)	E23G	probably benign	Het
Cdkl4	A	G	17: 80,863,730 (GRCm39)		probably benign	Het
Cep85l	A	G	10: 53,154,171 (GRCm39)		probably benign	Het
Cfap91	T	C	16: 38,118,616 (GRCm39)	I728V	probably benign	Het
Chd1	G	T	17: 15,951,268 (GRCm39)	G281V	probably damaging	Het
Col17a1	C	T	19: 47,656,141 (GRCm39)	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833 (GRCm39)	D66V	probably damaging	Het
Csde1	A	T	3: 102,952,107 (GRCm39)	I204L	probably damaging	Het
Dchs1	A	T	7: 105,404,532 (GRCm39)	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,124,578 (GRCm39)	V428A	probably benign	Het
Dgkh	T	A	14: 78,840,489 (GRCm39)	D530V	probably benign	Het
Dis3l	A	T	9: 64,215,558 (GRCm39)		probably null	Het
Dst	T	G	1: 34,265,093 (GRCm39)		probably benign	Het
Eml6	C	T	11: 29,798,814 (GRCm39)		probably null	Het
En1	A	T	1: 120,531,133 (GRCm39)	E124D	probably benign	Het
Fktn	T	C	4: 53,735,099 (GRCm39)	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,997,580 (GRCm39)		probably benign	Het
Foxp2	G	A	6: 15,396,818 (GRCm39)	C381Y	probably damaging	Het
Galnt6	A	T	15: 100,595,047 (GRCm39)	Y485N	probably damaging	Het
Gemin4	G	A	11: 76,103,444 (GRCm39)	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,391,657 (GRCm39)	I155T	unknown	Het
Hmcn2	A	G	2: 31,328,267 (GRCm39)	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,046,824 (GRCm39)		probably benign	Het
Hpx	G	A	7: 105,244,781 (GRCm39)	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,559,629 (GRCm39)	E151A	probably benign	Het
Krt6b	A	T	15: 101,586,562 (GRCm39)	L309H	probably damaging	Het
Lce1c	G	T	3: 92,587,765 (GRCm39)	C64F	unknown	Het
Marchf6	C	T	15: 31,462,087 (GRCm39)		probably null	Het
Myt1	C	A	2: 181,437,552 (GRCm39)	R88S	probably benign	Het
Nemp1	A	G	10: 127,529,446 (GRCm39)	S194G	probably benign	Het
Nphp4	A	G	4: 152,639,111 (GRCm39)	K914R	probably damaging	Het
Or3a1	T	A	11: 74,225,212 (GRCm39)	T282S	possibly damaging	Het
Osbp	T	C	19: 11,951,265 (GRCm39)	M270T	probably benign	Het
Parg	T	C	14: 31,932,531 (GRCm39)	M457T	possibly damaging	Het
Phf20	T	C	2: 156,129,874 (GRCm39)	M482T	probably benign	Het
Pik3c2a	G	A	7: 115,941,472 (GRCm39)	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,798,759 (GRCm39)	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,944,216 (GRCm39)	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,456,744 (GRCm39)	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,821,110 (GRCm39)	T65S	probably benign	Het
Sipa1l2	G	A	8: 126,166,176 (GRCm39)	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,068,968 (GRCm39)	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,931,628 (GRCm39)	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,728,718 (GRCm39)	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,277,861 (GRCm39)	F301S	probably damaging	Het
Tmem233	A	C	5: 116,189,496 (GRCm39)	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,243,843 (GRCm39)	D193G	probably damaging	Het
Tprkb	T	C	6: 85,910,030 (GRCm39)		probably benign	Het
Tram1l1	A	G	3: 124,115,488 (GRCm39)	H216R	possibly damaging	Het
Ttn	A	G	2: 76,564,484 (GRCm39)	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,320,547 (GRCm39)	N25S	possibly damaging	Het
Unc80	C	A	1: 66,542,935 (GRCm39)	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,332,012 (GRCm39)	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,566,927 (GRCm39)	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,824,101 (GRCm39)	I995V	probably null	Het

Other mutations in Exo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Exo1	APN	1	175,723,803 (GRCm39)	missense	probably benign	0.00
IGL01116:Exo1	APN	1	175,728,963 (GRCm39)	missense	possibly damaging	0.76
IGL01766:Exo1	APN	1	175,719,587 (GRCm39)	missense	possibly damaging	0.67
IGL02117:Exo1	APN	1	175,721,309 (GRCm39)	missense	possibly damaging	0.60
IGL02979:Exo1	APN	1	175,726,973 (GRCm39)	missense	probably damaging	1.00
IGL03026:Exo1	APN	1	175,736,003 (GRCm39)	makesense	probably null
IGL03109:Exo1	APN	1	175,727,126 (GRCm39)	missense	probably damaging	1.00
IGL03208:Exo1	APN	1	175,723,811 (GRCm39)	missense	probably benign	0.01
IGL03342:Exo1	APN	1	175,719,693 (GRCm39)	missense	probably benign	0.09
IGL03147:Exo1	UTSW	1	175,716,354 (GRCm39)	missense	probably damaging	1.00
R0194:Exo1	UTSW	1	175,719,596 (GRCm39)	missense	probably damaging	1.00
R0427:Exo1	UTSW	1	175,733,519 (GRCm39)	missense	probably damaging	0.96
R0520:Exo1	UTSW	1	175,727,031 (GRCm39)	missense	probably benign	0.00
R1382:Exo1	UTSW	1	175,721,362 (GRCm39)	missense	probably damaging	0.98
R1618:Exo1	UTSW	1	175,728,952 (GRCm39)	missense	probably benign	0.00
R1666:Exo1	UTSW	1	175,736,052 (GRCm39)	missense	possibly damaging	0.81
R2177:Exo1	UTSW	1	175,710,456 (GRCm39)	splice site	probably null
R2224:Exo1	UTSW	1	175,714,254 (GRCm39)	critical splice acceptor site	probably null
R2305:Exo1	UTSW	1	175,716,327 (GRCm39)	missense	probably damaging	1.00
R2509:Exo1	UTSW	1	175,733,399 (GRCm39)	missense	probably damaging	1.00
R3405:Exo1	UTSW	1	175,733,536 (GRCm39)	missense	possibly damaging	0.89
R3406:Exo1	UTSW	1	175,733,536 (GRCm39)	missense	possibly damaging	0.89
R3711:Exo1	UTSW	1	175,721,395 (GRCm39)	missense	probably benign
R3767:Exo1	UTSW	1	175,714,312 (GRCm39)	missense	probably damaging	1.00
R3787:Exo1	UTSW	1	175,727,035 (GRCm39)	missense	probably benign
R3853:Exo1	UTSW	1	175,720,554 (GRCm39)	missense	probably benign	0.01
R5304:Exo1	UTSW	1	175,720,542 (GRCm39)	missense	probably damaging	1.00
R5625:Exo1	UTSW	1	175,721,380 (GRCm39)	missense	possibly damaging	0.51
R5869:Exo1	UTSW	1	175,728,849 (GRCm39)	missense	possibly damaging	0.59
R7013:Exo1	UTSW	1	175,721,338 (GRCm39)	missense	probably damaging	1.00
R7238:Exo1	UTSW	1	175,716,413 (GRCm39)	missense	probably damaging	1.00
R7514:Exo1	UTSW	1	175,734,232 (GRCm39)	splice site	probably null
R7522:Exo1	UTSW	1	175,728,870 (GRCm39)	missense	probably benign	0.08
R7895:Exo1	UTSW	1	175,728,562 (GRCm39)	missense	probably benign	0.06
R8218:Exo1	UTSW	1	175,728,480 (GRCm39)	missense	probably benign	0.01
R8751:Exo1	UTSW	1	175,719,678 (GRCm39)	missense	probably benign	0.05
R8995:Exo1	UTSW	1	175,736,127 (GRCm39)	missense	probably benign	0.14
R9169:Exo1	UTSW	1	175,715,203 (GRCm39)	missense	possibly damaging	0.81
R9732:Exo1	UTSW	1	175,727,065 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACACCGTCCAGGGTTTATGG -3'
(R):5'- CCTTTAGATTGCTACTGATGTCAGAAG -3'

Sequencing Primer
(F):5'- ATGGGACCCTGTTTTGACAG -3'
(R):5'- GTCCAATTAGCATTTAAACTTCCCAG -3'

Posted On

2014-08-25