Incidental Mutation 'IGL00090:Rexo2'
ID 1316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rexo2
Ensembl Gene ENSMUSG00000032026
Gene Name RNA exonuclease 2
Synonyms Sfn, 1810038D15Rik, Rex2, Smfn
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00090
Quality Score
Status
Chromosome 9
Chromosomal Location 48379812-48391911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48385747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 126 (S126P)
Ref Sequence ENSEMBL: ENSMUSP00000034524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034524] [ENSMUST00000213895] [ENSMUST00000217037] [ENSMUST00000216470]
AlphaFold Q9D8S4
Predicted Effect probably damaging
Transcript: ENSMUST00000034524
AA Change: S126P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034524
Gene: ENSMUSG00000032026
AA Change: S126P

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
low complexity region 27 40 N/A INTRINSIC
EXOIII 42 216 4.66e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213875
Predicted Effect probably damaging
Transcript: ENSMUST00000213895
AA Change: S98P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216624
Predicted Effect probably benign
Transcript: ENSMUST00000217037
Predicted Effect probably benign
Transcript: ENSMUST00000216470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216142
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 3'-to-5' exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Aim2 A G 1: 173,283,031 (GRCm39) S38G probably benign Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Rexo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Rexo2 APN 9 48,380,215 (GRCm39) missense probably damaging 1.00
R0014:Rexo2 UTSW 9 48,385,747 (GRCm39) missense probably benign 0.31
R1253:Rexo2 UTSW 9 48,380,232 (GRCm39) missense probably damaging 1.00
R1534:Rexo2 UTSW 9 48,380,190 (GRCm39) missense probably damaging 0.99
R2062:Rexo2 UTSW 9 48,385,813 (GRCm39) missense possibly damaging 0.94
R3789:Rexo2 UTSW 9 48,384,362 (GRCm39) missense probably damaging 1.00
R4343:Rexo2 UTSW 9 48,380,148 (GRCm39) missense possibly damaging 0.95
R4594:Rexo2 UTSW 9 48,391,717 (GRCm39) missense probably damaging 1.00
R4907:Rexo2 UTSW 9 48,390,703 (GRCm39) splice site probably null
R4972:Rexo2 UTSW 9 48,390,689 (GRCm39) missense probably damaging 1.00
R5833:Rexo2 UTSW 9 48,380,171 (GRCm39) missense probably benign
R5861:Rexo2 UTSW 9 48,386,481 (GRCm39) missense probably damaging 1.00
R6111:Rexo2 UTSW 9 48,384,412 (GRCm39) missense probably damaging 1.00
R7780:Rexo2 UTSW 9 48,380,145 (GRCm39) missense probably damaging 1.00
R8053:Rexo2 UTSW 9 48,386,418 (GRCm39) critical splice donor site probably null
R9492:Rexo2 UTSW 9 48,380,176 (GRCm39) missense probably benign 0.00
Posted On 2011-07-12