Incidental Mutation 'R1126:Exo5'
ID96144
Institutional Source Beutler Lab
Gene Symbol Exo5
Ensembl Gene ENSMUSG00000028629
Gene Nameexonuclease 5
Synonyms
MMRRC Submission 039199-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1126 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location120921196-120925017 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120922125 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 181 (I181N)
Ref Sequence ENSEMBL: ENSMUSP00000136408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030375] [ENSMUST00000144114] [ENSMUST00000156836] [ENSMUST00000177880]
Predicted Effect probably damaging
Transcript: ENSMUST00000030375
AA Change: I181N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030375
Gene: ENSMUSG00000028629
AA Change: I181N

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Exo5 71 355 1.3e-82 PFAM
Pfam:PDDEXK_1 92 353 2.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144114
SMART Domains Protein: ENSMUSP00000116454
Gene: ENSMUSG00000028629

DomainStartEndE-ValueType
Pfam:Exo5 1 141 2.8e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156836
SMART Domains Protein: ENSMUSP00000118041
Gene: ENSMUSG00000028629

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Exo5 71 133 1.7e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177880
AA Change: I181N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136408
Gene: ENSMUSG00000028629
AA Change: I181N

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:Exo5 71 196 1.1e-30 PFAM
Pfam:PDDEXK_1 94 353 6.5e-7 PFAM
Pfam:Exo5 190 355 1.5e-28 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sliding of the encoded protein, providing a 5'-directionality to the enzyme. This protein localizes to nuclear repair loci after DNA damage. [provided by RefSeq, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 46,109,638 E1226G probably damaging Het
Arhgef40 G T 14: 51,997,126 S962I probably damaging Het
Atp9b A T 18: 80,778,954 M477K probably damaging Het
Enpp2 C T 15: 54,906,826 probably null Het
Ephb3 T A 16: 21,222,476 M727K possibly damaging Het
Fbn1 T C 2: 125,321,192 probably null Het
Gas6 T C 8: 13,483,700 N103S probably benign Het
Gm11596 A T 11: 99,792,873 C140* probably null Het
Il6st T C 13: 112,503,732 Y681H probably damaging Het
Itih4 T C 14: 30,889,961 probably null Het
Kdm5b C T 1: 134,613,991 A768V possibly damaging Het
Krt83 A T 15: 101,487,482 N336K probably damaging Het
Mfsd6 A G 1: 52,709,511 V65A probably benign Het
Nipsnap1 A G 11: 4,884,081 N90S probably benign Het
Nlrp9a C A 7: 26,560,741 D640E probably benign Het
Olfr137 A G 17: 38,304,688 C258R probably damaging Het
Olfr365 A T 2: 37,202,101 M287L probably benign Het
Olfr473 A C 7: 107,934,371 M284L possibly damaging Het
Olfr747 C T 14: 50,681,263 A124T possibly damaging Het
Parp9 G A 16: 35,947,740 V97I possibly damaging Het
Pdzd2 T C 15: 12,458,220 T12A possibly damaging Het
Penk T C 4: 4,138,119 T9A probably benign Het
Pilrb2 T C 5: 137,870,960 D126G probably damaging Het
Pkdrej A T 15: 85,816,314 V1807E probably damaging Het
Ppp1r9a A G 6: 4,906,795 E450G possibly damaging Het
Rag1 T C 2: 101,642,689 R703G probably damaging Het
Rem1 G A 2: 152,634,535 V238M probably damaging Het
Rmdn3 T C 2: 119,153,995 D92G probably benign Het
Rp1l1 G A 14: 64,030,469 G1168D probably damaging Het
Saxo1 T A 4: 86,478,987 T105S probably benign Het
Slc39a2 G A 14: 51,894,145 G58R probably damaging Het
Tbx6 C T 7: 126,784,719 T315I probably damaging Het
Tcf12 A G 9: 72,000,433 M99T probably benign Het
Tdrd3 A G 14: 87,480,774 D197G probably damaging Het
Tnc T C 4: 64,018,120 N193S probably damaging Het
Ttn A G 2: 76,850,003 probably benign Het
Vmn1r225 A G 17: 20,502,326 I10V probably benign Het
Zp3r A G 1: 130,618,342 L77P probably damaging Het
Other mutations in Exo5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02932:Exo5 APN 4 120922545 missense probably benign 0.01
IGL03063:Exo5 APN 4 120921633 missense possibly damaging 0.60
R0417:Exo5 UTSW 4 120922072 missense probably damaging 1.00
R0540:Exo5 UTSW 4 120921981 missense probably damaging 0.99
R0609:Exo5 UTSW 4 120921684 missense probably damaging 1.00
R2401:Exo5 UTSW 4 120921997 missense probably damaging 0.97
R4658:Exo5 UTSW 4 120922551 missense probably benign
R5093:Exo5 UTSW 4 120922317 missense probably damaging 1.00
R5125:Exo5 UTSW 4 120921537 critical splice donor site probably null
R5178:Exo5 UTSW 4 120921537 critical splice donor site probably null
R6492:Exo5 UTSW 4 120921537 utr 3 prime probably benign
R6736:Exo5 UTSW 4 120921756 missense probably damaging 0.99
R7602:Exo5 UTSW 4 120921621 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTGCCCAGTATAGTGGCAGTCTC -3'
(R):5'- CATGACCTTGTGACAGTCCCCATC -3'

Sequencing Primer
(F):5'- AGAAGGTCCCAGTGGCTTG -3'
(R):5'- TCGCCACAAAAGAAGATGCTTG -3'
Posted On2014-01-05