Incidental Mutation 'IGL03109:Exo1'
ID419111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exo1
Ensembl Gene ENSMUSG00000039748
Gene Nameexonuclease 1
Synonyms5730442G03Rik, Msa
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.350) question?
Stock #IGL03109
Quality Score
Status
Chromosome1
Chromosomal Location175880581-175913489 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 175899560 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 479 (N479I)
Ref Sequence ENSEMBL: ENSMUSP00000039376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039725]
Predicted Effect probably damaging
Transcript: ENSMUST00000039725
AA Change: N479I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039376
Gene: ENSMUSG00000039748
AA Change: N479I

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 unknown
Transcript: ENSMUST00000191680
AA Change: N209I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193610
Predicted Effect probably benign
Transcript: ENSMUST00000194636
Predicted Effect probably benign
Transcript: ENSMUST00000194816
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,166,460 S96R probably benign Het
Abca6 T A 11: 110,180,347 H1506L probably damaging Het
Adgrg1 T A 8: 95,007,676 probably benign Het
Ahi1 A G 10: 20,970,942 T424A probably benign Het
Birc6 T A 17: 74,579,334 S552R possibly damaging Het
Bptf T C 11: 107,061,701 T2172A possibly damaging Het
Commd9 T C 2: 101,897,170 V103A probably benign Het
Ctnnal1 T A 4: 56,839,045 D216V probably damaging Het
Dcbld2 A G 16: 58,456,402 T519A probably benign Het
Dennd6b T C 15: 89,184,985 probably benign Het
Dnah10 A G 5: 124,764,886 T1369A probably benign Het
Ect2 T C 3: 27,144,972 T222A possibly damaging Het
Eef2k G A 7: 120,891,726 G523E probably damaging Het
Ephb2 T G 4: 136,771,544 T75P probably damaging Het
Fign A G 2: 63,980,662 L88P possibly damaging Het
Golgb1 T A 16: 36,915,611 V1740E possibly damaging Het
Icos A G 1: 60,997,697 probably benign Het
Il6ra C A 3: 89,876,858 G369* probably null Het
Itpr1 A G 6: 108,417,981 D83G probably damaging Het
Kdm2a A G 19: 4,329,107 I560T probably benign Het
Lrp1 C T 10: 127,566,645 R2219H probably benign Het
Mical3 A T 6: 121,009,124 C119S probably damaging Het
Mipol1 G A 12: 57,364,224 R267H probably benign Het
Myrip A T 9: 120,453,724 probably null Het
Nelfb G A 2: 25,201,061 L542F possibly damaging Het
Nlrp4b T C 7: 10,714,946 C359R probably damaging Het
Noxred1 T A 12: 87,233,438 H40L probably damaging Het
Nphp1 A T 2: 127,768,169 probably benign Het
Olfr761 C T 17: 37,952,487 C179Y probably damaging Het
Pank3 T A 11: 35,777,674 F163L probably benign Het
Pde10a T C 17: 8,929,214 probably null Het
Pigc G A 1: 161,970,776 R109Q possibly damaging Het
Rfc3 A G 5: 151,643,094 S297P probably benign Het
Serinc1 A T 10: 57,523,069 M246K probably benign Het
Slc5a8 C T 10: 88,906,416 probably benign Het
Tecrl A G 5: 83,309,309 probably benign Het
Tex14 A T 11: 87,543,365 E119V probably damaging Het
Tmem94 A G 11: 115,792,398 K669R probably damaging Het
Tnfrsf4 C A 4: 156,015,411 H130Q probably damaging Het
Trav18 G A 14: 53,831,551 A18T probably benign Het
Other mutations in Exo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Exo1 APN 1 175896237 missense probably benign 0.00
IGL01116:Exo1 APN 1 175901397 missense possibly damaging 0.76
IGL01766:Exo1 APN 1 175892021 missense possibly damaging 0.67
IGL02117:Exo1 APN 1 175893743 missense possibly damaging 0.60
IGL02979:Exo1 APN 1 175899407 missense probably damaging 1.00
IGL03026:Exo1 APN 1 175908437 makesense probably null
IGL03208:Exo1 APN 1 175896245 missense probably benign 0.01
IGL03342:Exo1 APN 1 175892127 missense probably benign 0.09
IGL03147:Exo1 UTSW 1 175888788 missense probably damaging 1.00
R0194:Exo1 UTSW 1 175892030 missense probably damaging 1.00
R0427:Exo1 UTSW 1 175905953 missense probably damaging 0.96
R0520:Exo1 UTSW 1 175899465 missense probably benign 0.00
R1382:Exo1 UTSW 1 175893796 missense probably damaging 0.98
R1618:Exo1 UTSW 1 175901386 missense probably benign 0.00
R1666:Exo1 UTSW 1 175908486 missense possibly damaging 0.81
R2007:Exo1 UTSW 1 175908530 missense probably damaging 1.00
R2177:Exo1 UTSW 1 175882890 splice site probably null
R2224:Exo1 UTSW 1 175886688 critical splice acceptor site probably null
R2305:Exo1 UTSW 1 175888761 missense probably damaging 1.00
R2509:Exo1 UTSW 1 175905833 missense probably damaging 1.00
R3405:Exo1 UTSW 1 175905970 missense possibly damaging 0.89
R3406:Exo1 UTSW 1 175905970 missense possibly damaging 0.89
R3711:Exo1 UTSW 1 175893829 missense probably benign
R3767:Exo1 UTSW 1 175886746 missense probably damaging 1.00
R3787:Exo1 UTSW 1 175899469 missense probably benign
R3853:Exo1 UTSW 1 175892988 missense probably benign 0.01
R5304:Exo1 UTSW 1 175892976 missense probably damaging 1.00
R5625:Exo1 UTSW 1 175893814 missense possibly damaging 0.51
R5869:Exo1 UTSW 1 175901283 missense possibly damaging 0.59
R7013:Exo1 UTSW 1 175893772 missense probably damaging 1.00
R7238:Exo1 UTSW 1 175888847 missense probably damaging 1.00
R7514:Exo1 UTSW 1 175906666 splice site probably null
R7522:Exo1 UTSW 1 175901304 missense probably benign 0.08
Posted On2016-08-02