Incidental Mutation 'R3787:Exo1'
ID 272289
Institutional Source Beutler Lab
Gene Symbol Exo1
Ensembl Gene ENSMUSG00000039748
Gene Name exonuclease 1
Synonyms 5730442G03Rik, Msa
MMRRC Submission 040754-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.415) question?
Stock # R3787 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 175708334-175738962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 175727035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 449 (T449A)
Ref Sequence ENSEMBL: ENSMUSP00000039376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039725]
AlphaFold Q9QZ11
Predicted Effect probably benign
Transcript: ENSMUST00000039725
AA Change: T449A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039376
Gene: ENSMUSG00000039748
AA Change: T449A

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 unknown
Transcript: ENSMUST00000191680
AA Change: T179A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193610
Predicted Effect probably benign
Transcript: ENSMUST00000194636
Predicted Effect probably benign
Transcript: ENSMUST00000194816
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G T 5: 139,441,197 (GRCm39) P35Q probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Aprt T C 8: 123,302,268 (GRCm39) D65G probably benign Het
Auh C A 13: 53,083,493 (GRCm39) R62L possibly damaging Het
Bmp4 C T 14: 46,623,171 (GRCm39) probably null Het
Bptf C A 11: 106,964,653 (GRCm39) D1514Y probably damaging Het
Carmil3 T C 14: 55,734,433 (GRCm39) F418S probably damaging Het
Ccdc112 C T 18: 46,432,365 (GRCm39) R72H probably benign Het
Ccdc138 T C 10: 58,374,092 (GRCm39) Y371H probably damaging Het
Chsy3 T C 18: 59,542,070 (GRCm39) Y403H probably damaging Het
Cul4a T C 8: 13,183,668 (GRCm39) V352A probably damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Dmxl2 T C 9: 54,277,162 (GRCm39) D2893G probably damaging Het
Dnah8 A G 17: 30,974,015 (GRCm39) D2800G probably damaging Het
Dnaja2 C T 8: 86,267,015 (GRCm39) G281R probably damaging Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Fmo1 A T 1: 162,657,583 (GRCm39) S519R possibly damaging Het
Fryl T C 5: 73,258,819 (GRCm39) Y655C probably benign Het
Gpt2 G T 8: 86,252,202 (GRCm39) V506L probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Magi2 C T 5: 20,670,907 (GRCm39) T580M probably damaging Het
Mcm9 A G 10: 53,492,076 (GRCm39) V415A possibly damaging Het
Mki67 A T 7: 135,302,012 (GRCm39) N1007K possibly damaging Het
Mpped1 A T 15: 83,680,784 (GRCm39) probably benign Het
Mtpap T C 18: 4,380,670 (GRCm39) V116A probably damaging Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Nfs1 A G 2: 155,970,503 (GRCm39) I270T possibly damaging Het
Nr1i3 A G 1: 171,041,994 (GRCm39) D26G probably damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Or13a28 G A 7: 140,217,748 (GRCm39) V45I probably benign Het
Or8g32 T C 9: 39,305,678 (GRCm39) V197A probably benign Het
Pde4dip G T 3: 97,622,868 (GRCm39) P1447Q possibly damaging Het
Plxna2 A G 1: 194,326,242 (GRCm39) T59A probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r12c G A 7: 4,489,583 (GRCm39) A193V probably damaging Het
Pramel48 T A 5: 95,630,756 (GRCm39) L211Q probably damaging Het
Prdm15 G T 16: 97,598,945 (GRCm39) H904Q probably benign Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Reep1 T A 6: 71,772,199 (GRCm39) D162E probably damaging Het
Rev3l T A 10: 39,722,206 (GRCm39) L2528Q probably damaging Het
Rfc1 A T 5: 65,453,357 (GRCm39) S264T probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Sipa1l2 C T 8: 126,149,944 (GRCm39) A1602T probably benign Het
Sipa1l2 C A 8: 126,177,122 (GRCm39) C1164F possibly damaging Het
Slc4a1ap T A 5: 31,685,483 (GRCm39) L254I possibly damaging Het
Slc5a3 A G 16: 91,874,816 (GRCm39) N291S possibly damaging Het
Stab2 T A 10: 86,805,141 (GRCm39) D279V possibly damaging Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Tro G A X: 149,438,048 (GRCm39) T203I possibly damaging Het
Txnl4b C T 8: 110,299,409 (GRCm39) A123V probably damaging Het
Vmn1r63 T A 7: 5,805,751 (GRCm39) M294L probably benign Het
Vmn2r58 C T 7: 41,513,498 (GRCm39) D382N probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* 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
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'- AGGACTTGGGTTGCAACATCC -3'
(R):5'- GGCTTCCGCAAATAGTGATGTG -3'

Sequencing Primer
(F):5'- TTGGGTTGCAACATCCAAGGC -3'
(R):5'- GATGTGCTAGCTTCAACTGCACTAG -3'
Posted On 2015-03-25