Incidental Mutation 'R9732:Exo1'
ID 731441
Institutional Source Beutler Lab
Gene Symbol Exo1
Ensembl Gene ENSMUSG00000039748
Gene Name exonuclease 1
Synonyms 5730442G03Rik, Msa
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R9732 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 175708334-175738962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 175727065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 459 (S459T)
Ref Sequence ENSEMBL: ENSMUSP00000039376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039725]
AlphaFold Q9QZ11
Predicted Effect probably benign
Transcript: ENSMUST00000039725
AA Change: S459T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000039376
Gene: ENSMUSG00000039748
AA Change: S459T

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
Predicted Effect probably benign
Transcript: ENSMUST00000194636
Predicted Effect probably benign
Transcript: ENSMUST00000194816
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A T 4: 156,258,446 (GRCm39) S1007T probably benign Het
Akap10 A T 11: 61,787,545 (GRCm39) C466S probably damaging Het
Apol9b C T 15: 77,619,566 (GRCm39) P121S possibly damaging Het
Atr T A 9: 95,743,438 (GRCm39) Y26N probably damaging Het
Cadm2 G A 16: 66,528,297 (GRCm39) T346I probably benign Het
Capn7 T C 14: 31,090,031 (GRCm39) I628T probably damaging Het
Cfap43 A G 19: 47,775,446 (GRCm39) S609P probably damaging Het
Chst2 C T 9: 95,287,951 (GRCm39) G132S probably benign Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Coq10a A G 10: 128,199,516 (GRCm39) F253L probably benign Het
Cyp2t4 C T 7: 26,854,657 (GRCm39) P46S probably damaging Het
Ddx54 T C 5: 120,763,911 (GRCm39) probably null Het
Dip2a T A 10: 76,110,077 (GRCm39) I1180L probably benign Het
Dpp8 G T 9: 64,970,862 (GRCm39) probably null Het
Efr3a T A 15: 65,720,139 (GRCm39) N378K probably benign Het
Etl4 C T 2: 20,748,373 (GRCm39) T237I probably damaging Het
Fam81b G A 13: 76,399,985 (GRCm39) T91I probably benign Het
Fry A G 5: 150,328,758 (GRCm39) E1297G probably benign Het
Gm11110 G A 17: 57,410,382 (GRCm39) L39F unknown Het
Gm3233 G T 10: 77,595,147 (GRCm39) Q124K unknown Het
Gm7145 C G 1: 117,913,839 (GRCm39) H240Q probably benign Het
Gnrh1 G T 14: 67,985,316 (GRCm39) R67L possibly damaging Het
Grip2 T A 6: 91,761,686 (GRCm39) E236V probably damaging Het
H3c10 A T 13: 21,902,186 (GRCm39) I120F probably benign Het
Hectd4 G T 5: 121,392,254 (GRCm39) E173* probably null Het
Hgf T A 5: 16,820,748 (GRCm39) L632I probably damaging Het
Igsf11 T C 16: 38,843,652 (GRCm39) V255A probably benign Het
Jmjd4 G T 11: 59,341,339 (GRCm39) probably null Het
Khdrbs3 C A 15: 68,885,212 (GRCm39) N71K probably damaging Het
Kif20b A G 19: 34,930,353 (GRCm39) D1286G probably benign Het
Lpin3 T A 2: 160,734,196 (GRCm39) L27Q probably damaging Het
Macroh2a1 G C 13: 56,243,976 (GRCm39) F183L probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mipep T A 14: 61,033,637 (GRCm39) F184I probably damaging Het
Mst1 A T 9: 107,959,425 (GRCm39) D237V possibly damaging Het
Mycbp2 T C 14: 103,448,749 (GRCm39) D1803G probably damaging Het
Ncoa6 T G 2: 155,244,636 (GRCm39) K1978T probably damaging Het
Nkain4 G A 2: 180,585,901 (GRCm39) T54I probably damaging Het
Olig3 G A 10: 19,233,151 (GRCm39) A259T probably benign Het
Or5w14 T C 2: 87,541,489 (GRCm39) T254A possibly damaging Het
Pacs1 A G 19: 5,184,997 (GRCm39) W943R probably damaging Het
Pkp4 T A 2: 59,138,797 (GRCm39) L349Q possibly damaging Het
Polh A T 17: 46,498,997 (GRCm39) H239Q probably benign Het
Ptprq G C 10: 107,412,767 (GRCm39) C1777W probably damaging Het
Rhod A T 19: 4,476,740 (GRCm39) V127E probably damaging Het
Rnf6 A G 5: 146,152,931 (GRCm39) S84P probably benign Het
Rundc3b T C 5: 8,562,406 (GRCm39) T321A probably damaging Het
Rxfp2 G A 5: 149,993,767 (GRCm39) A620T probably damaging Het
Sacm1l A G 9: 123,381,863 (GRCm39) E155G probably benign Het
Saxo5 C T 8: 3,526,167 (GRCm39) H107Y possibly damaging Het
Sdad1 A T 5: 92,438,942 (GRCm39) D471E probably benign Het
Sema6a T A 18: 47,381,925 (GRCm39) N874I probably damaging Het
Serinc4 C A 2: 121,283,631 (GRCm39) W283L possibly damaging Het
Simc1 GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA 13: 54,673,177 (GRCm39) probably benign Het
Slc24a3 A T 2: 145,458,591 (GRCm39) S524C probably damaging Het
Slc4a10 T G 2: 62,135,086 (GRCm39) S1042R probably damaging Het
Smg7 A T 1: 152,736,212 (GRCm39) V190D probably damaging Het
Sub1 T A 15: 11,986,650 (GRCm39) I66F possibly damaging Het
Svop G A 5: 114,201,142 (GRCm39) P109S probably damaging Het
Synj1 G A 16: 90,761,414 (GRCm39) P684L probably damaging Het
Synm A G 7: 67,385,652 (GRCm39) V670A probably damaging Het
Tep1 T C 14: 51,088,162 (GRCm39) I792V probably benign Het
Tex22 A G 12: 113,052,196 (GRCm39) T85A possibly damaging Het
Tmem151a C T 19: 5,131,937 (GRCm39) S423N probably damaging Het
Tnks1bp1 T A 2: 84,889,727 (GRCm39) W685R probably damaging Het
Top3a A G 11: 60,640,391 (GRCm39) F436L probably benign Het
Trim55 A T 3: 19,716,039 (GRCm39) I200F probably damaging Het
Trpv6 T A 6: 41,603,862 (GRCm39) R186* probably null Het
Ttc6 G A 12: 57,775,335 (GRCm39) C1677Y probably benign Het
Ttn C T 2: 76,769,206 (GRCm39) V2831I unknown Het
Tyrp1 T A 4: 80,758,930 (GRCm39) S268T possibly damaging Het
Unc5d C T 8: 29,381,319 (GRCm39) probably null Het
Usb1 G T 8: 96,065,375 (GRCm39) V129L probably damaging Het
Usp22 G A 11: 61,051,437 (GRCm39) T302M probably damaging Het
Vmn1r210 C A 13: 23,011,379 (GRCm39) L302F possibly damaging Het
Zfp689 C A 7: 127,044,283 (GRCm39) E116* 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
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
Predicted Primers PCR Primer
(F):5'- AGGACTTGGGTTGCAACATC -3'
(R):5'- GGCTTCCGCAAATAGTGATGTG -3'

Sequencing Primer
(F):5'- CTTGGGTTGCAACATCCAAGG -3'
(R):5'- GATGTGCTAGCTTCAACTGCACTAG -3'
Posted On 2022-11-14