Incidental Mutation 'IGL01503:Rexo4'
ID 88942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rexo4
Ensembl Gene ENSMUSG00000052406
Gene Name REX4, 3'-5' exonuclease
Synonyms XPMC2H, Rex4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01503
Quality Score
Status
Chromosome 2
Chromosomal Location 26843575-26854398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26850645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 239 (I239N)
Ref Sequence ENSEMBL: ENSMUSP00000109653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064244] [ENSMUST00000114020] [ENSMUST00000136710]
AlphaFold Q6PAQ4
Predicted Effect probably benign
Transcript: ENSMUST00000064244
AA Change: I216N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000070815
Gene: ENSMUSG00000052406
AA Change: I216N

DomainStartEndE-ValueType
low complexity region 16 34 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
EXOIII 229 390 2.55e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114020
AA Change: I239N

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000109653
Gene: ENSMUSG00000052406
AA Change: I239N

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
low complexity region 203 220 N/A INTRINSIC
EXOIII 252 413 2.55e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135752
Predicted Effect probably benign
Transcript: ENSMUST00000136710
AA Change: I216N

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000121599
Gene: ENSMUSG00000052406
AA Change: I216N

DomainStartEndE-ValueType
low complexity region 16 34 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
EXOIII 229 363 1.57e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145546
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 88,971,757 (GRCm39) Y26* probably null Het
Aadacl4fm4 T A 4: 144,401,137 (GRCm39) I116F probably damaging Het
Arpc1a T C 5: 145,032,964 (GRCm39) V91A probably damaging Het
Atp2a1 T A 7: 126,047,750 (GRCm39) I687F probably damaging Het
B3gnt5 A C 16: 19,588,531 (GRCm39) Y250S probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
C1s2 T C 6: 124,602,612 (GRCm39) D527G probably damaging Het
Chrna5 T A 9: 54,905,455 (GRCm39) probably benign Het
Cltc C A 11: 86,586,526 (GRCm39) probably benign Het
Dgkh T G 14: 78,853,710 (GRCm39) I439L possibly damaging Het
Dnajc16 G A 4: 141,491,008 (GRCm39) T714I possibly damaging Het
Fam13a A T 6: 58,933,065 (GRCm39) I349N probably damaging Het
Fig4 C T 10: 41,132,514 (GRCm39) D431N probably benign Het
Gabra4 A T 5: 71,798,429 (GRCm39) N183K possibly damaging Het
Ggt5 C T 10: 75,445,944 (GRCm39) probably benign Het
Hdac6 A G X: 7,798,418 (GRCm39) L798P probably damaging Het
Hectd4 T C 5: 121,456,714 (GRCm39) V2030A probably benign Het
Hecw2 A G 1: 53,866,120 (GRCm39) Y1514H probably damaging Het
Hmcn1 T C 1: 150,480,823 (GRCm39) D4451G probably benign Het
Krtcap3 T C 5: 31,409,167 (GRCm39) probably benign Het
Ltn1 A T 16: 87,217,695 (GRCm39) probably benign Het
Mapkapk2 T C 1: 130,986,499 (GRCm39) M1V probably null Het
Mical3 A T 6: 120,935,537 (GRCm39) I1663N probably benign Het
Mvp G T 7: 126,601,133 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,324 (GRCm39) I485V probably damaging Het
N4bp2 T A 5: 65,960,890 (GRCm39) C520* probably null Het
Nos2 A G 11: 78,836,689 (GRCm39) probably benign Het
Ogdh G A 11: 6,305,069 (GRCm39) V925M probably damaging Het
Pde2a T A 7: 101,151,143 (GRCm39) probably benign Het
Plpp6 A G 19: 28,942,279 (GRCm39) *293W probably null Het
Pole T A 5: 110,451,750 (GRCm39) I864K probably damaging Het
Scn1a T A 2: 66,152,687 (GRCm39) I748F probably damaging Het
Sfmbt2 A T 2: 10,584,165 (GRCm39) R841* probably null Het
Sh3bp5l A G 11: 58,228,827 (GRCm39) N100S probably damaging Het
Spic T A 10: 88,511,623 (GRCm39) D211V probably damaging Het
Stab2 A G 10: 86,776,477 (GRCm39) probably benign Het
Tshr A G 12: 91,478,708 (GRCm39) Y83C probably damaging Het
Vsir A G 10: 60,204,373 (GRCm39) E172G probably damaging Het
Wwp2 T C 8: 108,276,413 (GRCm39) S508P probably damaging Het
Other mutations in Rexo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Rexo4 APN 2 26,852,530 (GRCm39) missense probably benign 0.01
IGL02223:Rexo4 APN 2 26,845,511 (GRCm39) missense probably damaging 1.00
IGL02823:Rexo4 APN 2 26,852,489 (GRCm39) missense probably benign 0.06
G1citation:Rexo4 UTSW 2 26,850,283 (GRCm39) missense probably damaging 1.00
R0685:Rexo4 UTSW 2 26,848,586 (GRCm39) splice site probably benign
R1792:Rexo4 UTSW 2 26,850,248 (GRCm39) missense probably benign 0.00
R4912:Rexo4 UTSW 2 26,852,404 (GRCm39) missense possibly damaging 0.78
R4934:Rexo4 UTSW 2 26,850,346 (GRCm39) missense probably damaging 0.99
R5808:Rexo4 UTSW 2 26,854,197 (GRCm39) missense probably damaging 0.98
R6822:Rexo4 UTSW 2 26,850,283 (GRCm39) missense probably damaging 1.00
R7630:Rexo4 UTSW 2 26,850,622 (GRCm39) missense probably damaging 1.00
R7673:Rexo4 UTSW 2 26,848,505 (GRCm39) missense probably benign 0.11
R7728:Rexo4 UTSW 2 26,854,242 (GRCm39) missense probably benign 0.08
R8245:Rexo4 UTSW 2 26,850,350 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03