Incidental Mutation 'R1618:Exo1'
ID 174405
Institutional Source Beutler Lab
Gene Symbol Exo1
Ensembl Gene ENSMUSG00000039748
Gene Name exonuclease 1
Synonyms 5730442G03Rik, Msa
MMRRC Submission 039655-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R1618 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 175708334-175738962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 175728952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 672 (M672K)
Ref Sequence ENSEMBL: ENSMUSP00000039376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039725]
AlphaFold Q9QZ11
Predicted Effect probably benign
Transcript: ENSMUST00000039725
AA Change: M672K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000039376
Gene: ENSMUSG00000039748
AA Change: M672K

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000191680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193610
Predicted Effect unknown
Transcript: ENSMUST00000194636
AA Change: M6K
Predicted Effect probably benign
Transcript: ENSMUST00000194816
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 96% (79/82)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik T C 14: 105,736,380 (GRCm39) noncoding transcript Het
Abca8b A T 11: 109,840,714 (GRCm39) probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Anln A G 9: 22,262,214 (GRCm39) probably null Het
Anpep T G 7: 79,485,165 (GRCm39) Q607P probably benign Het
Arl13b A C 16: 62,633,640 (GRCm39) probably null Het
Asxl3 T C 18: 22,650,044 (GRCm39) S678P probably damaging Het
Atf6b C T 17: 34,866,702 (GRCm39) Q58* probably null Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Cfap46 T A 7: 139,232,726 (GRCm39) M782L probably benign Het
Cngb3 T C 4: 19,364,260 (GRCm39) S155P probably benign Het
Coro1a T C 7: 126,300,719 (GRCm39) I162V probably benign Het
Cry1 T A 10: 84,982,318 (GRCm39) I343F probably damaging Het
Csnk1e A T 15: 79,309,050 (GRCm39) M292K probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cul9 A T 17: 46,836,818 (GRCm39) M1069K probably benign Het
Cyp2c67 C A 19: 39,631,708 (GRCm39) probably benign Het
Dnah11 T C 12: 117,979,200 (GRCm39) I2633V probably damaging Het
Eif4g3 C A 4: 137,933,369 (GRCm39) D1731E probably damaging Het
Epb41l4b T C 4: 57,032,204 (GRCm39) T592A probably benign Het
Evi5 T C 5: 107,946,984 (GRCm39) probably benign Het
Fcho1 T C 8: 72,163,047 (GRCm39) S661G probably damaging Het
Fnip2 A G 3: 79,415,475 (GRCm39) Y188H possibly damaging Het
Foxb1 T C 9: 69,667,293 (GRCm39) D79G probably damaging Het
Fyco1 T C 9: 123,658,346 (GRCm39) Y610C probably damaging Het
Gm3095 T A 14: 15,170,441 (GRCm39) Y97N probably damaging Het
Gm3095 C A 14: 15,170,440 (GRCm39) N96K probably damaging Het
Gmfb A T 14: 47,049,237 (GRCm39) L128* probably null Het
Gprc5c T A 11: 114,755,220 (GRCm39) V299D possibly damaging Het
Hsfy2 C T 1: 56,676,388 (GRCm39) V50I probably benign Het
Hspa12b A C 2: 130,982,849 (GRCm39) K236Q probably benign Het
Impg2 A G 16: 56,080,221 (GRCm39) Y566C probably damaging Het
Itpr3 A C 17: 27,335,581 (GRCm39) probably null Het
Kprp G A 3: 92,732,783 (GRCm39) T89I probably damaging Het
Lcmt2 T C 2: 120,969,133 (GRCm39) E650G probably damaging Het
Lrch1 T C 14: 75,051,144 (GRCm39) D331G probably damaging Het
Mroh9 T A 1: 162,852,110 (GRCm39) I860F probably benign Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myt1l A G 12: 29,877,396 (GRCm39) D349G unknown Het
Ndufs2 T C 1: 171,073,690 (GRCm39) T31A probably benign Het
Ndufs3 A T 2: 90,729,016 (GRCm39) S157T probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Noct T A 3: 51,155,251 (GRCm39) S6R probably damaging Het
Npas2 T A 1: 39,339,808 (GRCm39) H119Q probably damaging Het
Oprl1 A T 2: 181,360,646 (GRCm39) Y207F probably benign Het
Or2n1e G A 17: 38,586,557 (GRCm39) probably null Het
Or4c11 A G 2: 88,695,871 (GRCm39) probably null Het
Or8k30 T G 2: 86,339,193 (GRCm39) L130R probably damaging Het
Palm3 G T 8: 84,756,291 (GRCm39) S601I possibly damaging Het
Plscr1 T A 9: 92,148,548 (GRCm39) C163S probably damaging Het
Ptprk A T 10: 28,369,166 (GRCm39) M713L probably benign Het
Rdm1 A G 11: 101,519,217 (GRCm39) D72G possibly damaging Het
Reln T C 5: 22,265,366 (GRCm39) D442G probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Sbno1 T C 5: 124,542,279 (GRCm39) Y338C probably damaging Het
Seh1l T G 18: 67,921,806 (GRCm39) V222G probably damaging Het
Septin12 T C 16: 4,814,340 (GRCm39) K43R probably damaging Het
Slc25a18 A C 6: 120,763,303 (GRCm39) probably benign Het
Slc33a1 T C 3: 63,855,650 (GRCm39) T332A possibly damaging Het
Slc35d3 A G 10: 19,724,909 (GRCm39) S316P probably benign Het
Spmip7 A G 11: 11,438,641 (GRCm39) probably benign Het
Srrm2 T A 17: 24,037,906 (GRCm39) probably benign Het
Srsf12 C T 4: 33,230,974 (GRCm39) S156L probably damaging Het
Syce3 A G 15: 89,274,606 (GRCm39) M49T probably benign Het
Tjp3 T C 10: 81,112,094 (GRCm39) probably benign Het
Tnks G T 8: 35,342,430 (GRCm39) N373K probably damaging Het
Togaram1 A G 12: 65,013,847 (GRCm39) N366S possibly damaging Het
Trpm1 G A 7: 63,890,283 (GRCm39) R962H probably damaging Het
Trpm6 A T 19: 18,854,995 (GRCm39) M1885L possibly damaging Het
Tshz3 A G 7: 36,471,221 (GRCm39) D1070G probably damaging Het
Ush2a T C 1: 188,546,421 (GRCm39) M3399T probably benign Het
Utp15 G A 13: 98,393,695 (GRCm39) T196I probably benign Het
Vmn1r168 T C 7: 23,240,725 (GRCm39) I194T probably benign Het
Vmn2r73 C T 7: 85,525,120 (GRCm39) W9* probably null Het
Wdr17 T C 8: 55,092,930 (GRCm39) Y1076C probably damaging Het
Zan T C 5: 137,382,092 (GRCm39) T5152A unknown Het
Zbtb46 A T 2: 181,066,042 (GRCm39) V36E possibly damaging Het
Zfp558 T C 9: 18,380,579 (GRCm39) I9M possibly damaging Het
Zscan2 T A 7: 80,525,534 (GRCm39) Y418* probably null Het
Other mutations in Exo1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAAGCACTACATTGCAGCAGTTCC -3'
(R):5'- GAGAAGAACCAGCTCCTTTCCTTTCC -3'

Sequencing Primer
(F):5'- CGGAGAAAGAGCGACCCC -3'
(R):5'- cttgaactcagaaatccgcc -3'
Posted On 2014-04-24