Mutagenetix > Incidental Mutation

Incidental Mutation 'R0194:Exo1'

23258

Institutional Source

Beutler Lab

Gene Symbol

Exo1

Ensembl Gene

ENSMUSG00000039748

Gene Name

exonuclease 1

Synonyms

5730442G03Rik, Msa

MMRRC Submission

038453-MU

Accession Numbers

Essential gene?

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

Stock #

R0194 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

175708334-175738962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 175719596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 214 (K214E)

Ref Sequence

ENSEMBL: ENSMUSP00000141770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039725] [ENSMUST00000193822] [ENSMUST00000193858] [ENSMUST00000194306] [ENSMUST00000195196]

AlphaFold

Q9QZ11

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039725
AA Change: K214E

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039376
Gene: ENSMUSG00000039748
AA Change: K214E

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

probably benign
Transcript: ENSMUST00000191680

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193822
AA Change: K174E

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141624
Gene: ENSMUSG00000039748
AA Change: K174E

Domain	Start	End	E-Value	Type
XPGN	1	83	3.5e-11	SMART
XPGI	98	168	1.4e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193858
AA Change: K174E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141568
Gene: ENSMUSG00000039748
AA Change: K174E

Domain	Start	End	E-Value	Type
XPGN	1	83	3.5e-11	SMART
XPGI	98	168	1.4e-33	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000194306
AA Change: K214E

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

SMART Domains

Protein: ENSMUSP00000141770
Gene: ENSMUSG00000039748
AA Change: K214E

Domain	Start	End	E-Value	Type
XPGN	1	99	2e-40	SMART
XPGI	138	208	1.4e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195196

SMART Domains

Protein: ENSMUSP00000141870
Gene: ENSMUSG00000039748

Domain	Start	End	E-Value	Type
XPGN	1	99	2e-40	SMART

Meta Mutation Damage Score

0.4124

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 91.4%
20x: 70.1%

Validation Efficiency

91% (439/482)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,480 (GRCm39)	D46V	unknown	Het
Abcb9	A	G	5: 124,215,358 (GRCm39)	V461A	probably damaging	Het
Ackr4	T	A	9: 103,976,679 (GRCm39)	L89F	probably benign	Het
Acsf2	T	C	11: 94,452,196 (GRCm39)	T449A	probably benign	Het
Acsl4	C	G	X: 141,116,714 (GRCm39)	G489R	probably damaging	Het
Actl6a	T	A	3: 32,779,469 (GRCm39)	I399N	probably damaging	Het
Adamts19	G	A	18: 59,144,220 (GRCm39)	C934Y	probably null	Het
Adsl	A	G	15: 80,845,561 (GRCm39)	E40G	possibly damaging	Het
Alppl2	T	G	1: 87,016,465 (GRCm39)	D203A	probably damaging	Het
Asb10	C	A	5: 24,742,930 (GRCm39)	A268S	probably benign	Het
Atp9a	T	C	2: 168,485,805 (GRCm39)	S832G	probably benign	Het
Bckdha	A	T	7: 25,330,875 (GRCm39)	I297N	probably damaging	Het
Blm	G	A	7: 80,114,694 (GRCm39)		probably benign	Het
C9orf72	T	A	4: 35,197,207 (GRCm39)	D122V	probably damaging	Het
Cacna1h	A	G	17: 25,599,898 (GRCm39)		probably benign	Het
Camsap2	G	A	1: 136,220,686 (GRCm39)	Q298*	probably null	Het
Ccdc38	A	T	10: 93,401,774 (GRCm39)	K145*	probably null	Het
Cfap45	C	T	1: 172,368,894 (GRCm39)	T434M	probably benign	Het
Cfap54	A	T	10: 92,870,524 (GRCm39)		probably benign	Het
Clcn6	G	A	4: 148,097,213 (GRCm39)	P618L	probably damaging	Het
Copg1	T	C	6: 87,881,179 (GRCm39)		probably benign	Het
Dctd	T	A	8: 48,565,113 (GRCm39)	N79K	probably benign	Het
Dgkq	A	G	5: 108,802,510 (GRCm39)		probably benign	Het
Dntt	A	T	19: 41,027,409 (GRCm39)	T159S	possibly damaging	Het
Doc2g	G	A	19: 4,053,656 (GRCm39)	R29Q	probably benign	Het
Dsg3	A	G	18: 20,673,199 (GRCm39)	T957A	probably damaging	Het
Eif3c	T	A	7: 126,157,795 (GRCm39)		probably benign	Het
Ephb3	T	A	16: 21,036,859 (GRCm39)	D107E	probably benign	Het
Esrrb	A	T	12: 86,517,255 (GRCm39)	D108V	probably damaging	Het
Fam186a	G	A	15: 99,839,644 (GRCm39)	T2200I	possibly damaging	Het
Fam227a	C	T	15: 79,524,870 (GRCm39)	W194*	probably null	Het
Foxn4	A	G	5: 114,397,809 (GRCm39)		probably null	Het
Gabbr2	T	C	4: 46,787,565 (GRCm39)	K366R	possibly damaging	Het
Garem2	T	A	5: 30,318,928 (GRCm39)	V130E	probably damaging	Het
Grin2b	A	G	6: 135,756,303 (GRCm39)	F474S	probably damaging	Het
H2-M10.6	G	T	17: 37,124,934 (GRCm39)	V284F	probably damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hivep1	G	T	13: 42,308,911 (GRCm39)	V384F	probably damaging	Het
Hmox1	A	G	8: 75,823,736 (GRCm39)	T135A	probably damaging	Het
Hpse	T	C	5: 100,867,378 (GRCm39)	D28G	probably benign	Het
Itm2b	G	T	14: 73,602,058 (GRCm39)	D213E	probably benign	Het
Jakmip1	T	A	5: 37,291,627 (GRCm39)	M692K	possibly damaging	Het
Kdm3a	T	C	6: 71,601,578 (GRCm39)	Q151R	probably null	Het
Limch1	C	A	5: 67,156,616 (GRCm39)	A517E	probably benign	Het
Lrit1	T	A	14: 36,783,677 (GRCm39)	L335Q	probably damaging	Het
Lrrc37a	A	G	11: 103,390,616 (GRCm39)	V1603A	possibly damaging	Het
Mbtps1	T	A	8: 120,262,108 (GRCm39)	N347I	probably damaging	Het
Mier1	A	T	4: 102,996,716 (GRCm39)		probably null	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Mug1	A	T	6: 121,817,066 (GRCm39)	E45V	probably damaging	Het
Mybphl	A	G	3: 108,281,484 (GRCm39)	K67E	probably benign	Het
Myh4	A	G	11: 67,143,162 (GRCm39)	K1030R	probably damaging	Het
Myl3	T	A	9: 110,598,189 (GRCm39)	D176E	probably benign	Het
Ncapg2	A	G	12: 116,384,303 (GRCm39)		probably null	Het
Ndor1	T	C	2: 25,138,718 (GRCm39)		probably null	Het
Nedd4	T	G	9: 72,577,335 (GRCm39)	N53K	possibly damaging	Het
Nek11	C	A	9: 105,270,151 (GRCm39)	A24S	probably benign	Het
Nudt19	G	T	7: 35,250,939 (GRCm39)	P267T	probably benign	Het
Olfml2b	T	C	1: 170,508,684 (GRCm39)	M514T	possibly damaging	Het
Or14a258	A	T	7: 86,035,582 (GRCm39)	C95*	probably null	Het
Or2ag17	C	A	7: 106,390,030 (GRCm39)	M59I	probably benign	Het
Or52i2	A	G	7: 102,319,406 (GRCm39)	D93G	probably benign	Het
Or6k4	A	T	1: 173,964,327 (GRCm39)	T6S	probably benign	Het
P3h1	T	A	4: 119,095,149 (GRCm39)	F302Y	probably damaging	Het
Pappa2	T	A	1: 158,592,671 (GRCm39)		probably benign	Het
Pex2	A	C	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Phf11d	A	C	14: 59,590,180 (GRCm39)	L214R	probably damaging	Het
Plcg2	G	A	8: 118,300,136 (GRCm39)		probably benign	Het
Ppargc1b	A	C	18: 61,441,016 (GRCm39)	L634R	possibly damaging	Het
Prune1	A	T	3: 95,169,671 (GRCm39)	I177N	probably damaging	Het
Puf60	T	C	15: 75,942,334 (GRCm39)	D496G	probably damaging	Het
Rasl11b	A	G	5: 74,356,824 (GRCm39)		probably null	Het
Sdr42e1	A	T	8: 118,389,848 (GRCm39)	F264L	probably damaging	Het
Sec24b	A	T	3: 129,777,814 (GRCm39)		probably null	Het
Sgta	G	T	10: 80,886,893 (GRCm39)	P79T	probably benign	Het
Shisa9	C	T	16: 11,802,818 (GRCm39)	T125M	probably damaging	Het
Shoc1	T	A	4: 59,066,534 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,063,283 (GRCm39)	D921G	probably damaging	Het
Slc13a5	C	T	11: 72,136,059 (GRCm39)	V494I	probably benign	Het
Slc13a5	T	A	11: 72,152,956 (GRCm39)	I42L	possibly damaging	Het
Spire2	G	A	8: 124,089,750 (GRCm39)		probably benign	Het
Sptbn4	G	A	7: 27,104,336 (GRCm39)	R962C	probably benign	Het
St8sia5	G	A	18: 77,342,420 (GRCm39)	V377I	probably benign	Het
Stag2	T	G	X: 41,295,014 (GRCm39)		probably benign	Het
Syne1	C	A	10: 5,374,311 (GRCm39)	M165I	probably benign	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tacc1	A	G	8: 25,672,392 (GRCm39)	S279P	probably benign	Het
Tbc1d10a	T	C	11: 4,162,901 (GRCm39)		probably null	Het
Tbc1d19	A	G	5: 54,017,498 (GRCm39)	T302A	probably damaging	Het
Tecpr1	A	C	5: 144,155,335 (GRCm39)	N74K	probably damaging	Het
Tmem120a	T	C	5: 135,771,252 (GRCm39)	E28G	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,951,382 (GRCm39)	I186N	probably benign	Het
Trim55	A	G	3: 19,716,025 (GRCm39)	D195G	probably benign	Het
Trpm3	G	T	19: 22,692,720 (GRCm39)		probably null	Het
Ttc39a	T	A	4: 109,301,376 (GRCm39)	S571T	probably benign	Het
Vwf	T	G	6: 125,620,260 (GRCm39)	I1646S	probably benign	Het
Wbp2nl	T	C	15: 82,198,483 (GRCm39)	F340S	possibly damaging	Het
Yeats2	T	C	16: 19,971,719 (GRCm39)	M1T	probably null	Het
Zfp236	T	A	18: 82,675,112 (GRCm39)	E460V	probably damaging	Het
Zfp277	G	A	12: 40,428,876 (GRCm39)		probably benign	Het
Zfp975	T	A	7: 42,311,916 (GRCm39)	K232N	probably benign	Het
Zxdc	T	C	6: 90,349,519 (GRCm39)		probably benign	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
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
R2007:Exo1	UTSW	1	175,736,096 (GRCm39)	missense	probably damaging	1.00
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'- TGCAATGCAGAGCACAAATGATTCC -3'
(R):5'- TCAGAGCAGAAAGCTTGAGAACCAC -3'

Sequencing Primer
(F):5'- TGACCATTCTCCTCTGTGTG -3'
(R):5'- ttgagaACCACTCTCAAGTACTAGG -3'

Posted On

2013-04-16