Incidental Mutation 'IGL03342:Exo1'
ID 417270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exo1
Ensembl Gene ENSMUSG00000039748
Gene Name exonuclease 1
Synonyms 5730442G03Rik, Msa
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # IGL03342
Quality Score
Status
Chromosome 1
Chromosomal Location 175708334-175738962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 175719693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 246 (N246I)
Ref Sequence ENSEMBL: ENSMUSP00000039376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039725] [ENSMUST00000193822] [ENSMUST00000193858] [ENSMUST00000194306] [ENSMUST00000195196]
AlphaFold Q9QZ11
Predicted Effect probably benign
Transcript: ENSMUST00000039725
AA Change: N246I

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000039376
Gene: ENSMUSG00000039748
AA Change: N246I

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 probably benign
Transcript: ENSMUST00000191680
Predicted Effect probably benign
Transcript: ENSMUST00000193822
SMART Domains Protein: ENSMUSP00000141624
Gene: ENSMUSG00000039748

DomainStartEndE-ValueType
XPGN 1 83 3.5e-11 SMART
XPGI 98 168 1.4e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193858
SMART Domains Protein: ENSMUSP00000141568
Gene: ENSMUSG00000039748

DomainStartEndE-ValueType
XPGN 1 83 3.5e-11 SMART
XPGI 98 168 1.4e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194306
SMART Domains Protein: ENSMUSP00000141770
Gene: ENSMUSG00000039748

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
XPGN 1 99 2e-40 SMART
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,178,517 (GRCm39) T1152M possibly damaging Het
Abcg2 G T 6: 58,642,120 (GRCm39) R136I probably damaging Het
Acap2 A G 16: 30,924,310 (GRCm39) V641A probably damaging Het
Afg3l2 A T 18: 67,540,390 (GRCm39) D706E probably benign Het
Bbs1 A T 19: 4,947,621 (GRCm39) L311Q probably damaging Het
Cacna1e A G 1: 154,342,690 (GRCm39) probably null Het
Car2 A T 3: 14,960,629 (GRCm39) D129V probably benign Het
Catsper2 T C 2: 121,237,217 (GRCm39) I228V probably damaging Het
Cdhr3 C A 12: 33,101,054 (GRCm39) R452M probably benign Het
Chrm1 A T 19: 8,656,672 (GRCm39) Q459L probably benign Het
Cnbd1 C T 4: 19,098,264 (GRCm39) probably benign Het
Coa7 A G 4: 108,189,426 (GRCm39) D42G probably damaging Het
Ctsz T C 2: 174,270,933 (GRCm39) Y187C possibly damaging Het
Cxcr6 C T 9: 123,639,472 (GRCm39) Q165* probably null Het
Cyp3a11 G A 5: 145,791,927 (GRCm39) P489S probably damaging Het
Cyp4f15 A T 17: 32,916,910 (GRCm39) I276F probably damaging Het
Dsg1b T A 18: 20,542,517 (GRCm39) M1008K probably benign Het
Dsg4 T A 18: 20,584,880 (GRCm39) I198N probably damaging Het
Dtymk C A 1: 93,722,541 (GRCm39) E87D probably benign Het
Dysf T A 6: 84,167,854 (GRCm39) D1749E probably benign Het
Dzip3 G T 16: 48,749,986 (GRCm39) Q1050K probably damaging Het
Echs1 C T 7: 139,690,026 (GRCm39) probably benign Het
Enc1 T A 13: 97,382,978 (GRCm39) I496N possibly damaging Het
Epc2 A T 2: 49,426,658 (GRCm39) Y139F probably benign Het
Flg2 A G 3: 93,108,542 (GRCm39) K190R probably damaging Het
Gm5424 A T 10: 61,907,971 (GRCm39) noncoding transcript Het
Gpbp1l1 A C 4: 116,431,740 (GRCm39) T133P probably benign Het
Gpr155 A G 2: 73,180,022 (GRCm39) F146S probably damaging Het
Grm1 T A 10: 10,955,715 (GRCm39) I190L probably benign Het
Hif3a C T 7: 16,775,047 (GRCm39) R515H possibly damaging Het
Itprid2 G A 2: 79,490,796 (GRCm39) M971I probably damaging Het
Kdm5b G A 1: 134,530,314 (GRCm39) D442N probably benign Het
Manba A T 3: 135,223,748 (GRCm39) I212F possibly damaging Het
Map3k13 A G 16: 21,710,981 (GRCm39) E88G possibly damaging Het
Mapk7 A G 11: 61,382,216 (GRCm39) L163P probably damaging Het
Med1 A T 11: 98,080,006 (GRCm39) probably null Het
Mtrf1 T A 14: 79,653,312 (GRCm39) probably null Het
Mtrf1 A G 14: 79,653,420 (GRCm39) D365G possibly damaging Het
Mtrf1 C T 14: 79,653,311 (GRCm39) probably benign Het
Myadm C T 7: 3,345,403 (GRCm39) T55I possibly damaging Het
Nlgn1 A T 3: 26,187,411 (GRCm39) I158N probably damaging Het
Nlrc4 A G 17: 74,752,313 (GRCm39) L690P probably damaging Het
Nlrp1a A T 11: 71,013,617 (GRCm39) D544E probably benign Het
Nlrp2 A T 7: 5,320,482 (GRCm39) L20Q probably damaging Het
Or1e30 T A 11: 73,678,309 (GRCm39) S182T probably benign Het
Or8k21 A T 2: 86,145,579 (GRCm39) I17N possibly damaging Het
Or9i16 A G 19: 13,864,801 (GRCm39) Y258H probably damaging Het
Padi3 G A 4: 140,537,909 (GRCm39) Q4* probably null Het
Pfkl A T 10: 77,841,309 (GRCm39) I13K possibly damaging Het
Pinx1 A G 14: 64,157,018 (GRCm39) D315G probably benign Het
Prickle3 A G X: 7,529,735 (GRCm39) D47G probably benign Het
Psmd10 A T X: 139,857,403 (GRCm39) V5E probably damaging Het
Rasgrf2 C A 13: 92,136,098 (GRCm39) V605F probably damaging Het
Smarca1 G T X: 46,981,146 (GRCm39) A84D probably damaging Het
Sp2 A G 11: 96,852,588 (GRCm39) V112A probably damaging Het
Srgap3 G A 6: 112,752,648 (GRCm39) R279C probably damaging Het
Trav21-dv12 T C 14: 54,113,501 (GRCm39) L10P unknown Het
Vmn1r236 A T 17: 21,507,236 (GRCm39) H118L probably benign Het
Vmn2r120 A G 17: 57,816,372 (GRCm39) M661T probably benign Het
Vmn2r17 A T 5: 109,575,782 (GRCm39) I218F probably damaging Het
Vmn2r41 G T 7: 8,141,682 (GRCm39) A594D probably damaging Het
Zc2hc1a A G 3: 7,589,283 (GRCm39) E103G possibly damaging Het
Zfp62 G T 11: 49,106,298 (GRCm39) G130* 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
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
R9732:Exo1 UTSW 1 175,727,065 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02