Incidental Mutation 'IGL01503:Rexo4'
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ID88942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rexo4
Ensembl Gene ENSMUSG00000052406
Gene NameREX4, 3'-5' exonuclease
SynonymsXPMC2H
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01503
Quality Score
Status
Chromosome2
Chromosomal Location26953563-26964386 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 26960633 bp
ZygosityHeterozygous
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]
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: 89,174,869 Y26* probably null Het
Arpc1a T C 5: 145,096,154 V91A probably damaging Het
Atp2a1 T A 7: 126,448,578 I687F probably damaging Het
B3gnt5 A C 16: 19,769,781 Y250S probably damaging Het
Brip1 A G 11: 86,061,877 V1026A probably benign Het
C1s2 T C 6: 124,625,653 D527G probably damaging Het
Chrna5 T A 9: 54,998,171 probably benign Het
Cltc C A 11: 86,695,700 probably benign Het
Dgkh T G 14: 78,616,270 I439L possibly damaging Het
Dnajc16 G A 4: 141,763,697 T714I possibly damaging Het
Fam13a A T 6: 58,956,080 I349N probably damaging Het
Fig4 C T 10: 41,256,518 D431N probably benign Het
Gabra4 A T 5: 71,641,086 N183K possibly damaging Het
Ggt5 C T 10: 75,610,110 probably benign Het
Gm436 T A 4: 144,674,567 I116F probably damaging Het
Hdac6 A G X: 7,932,179 L798P probably damaging Het
Hectd4 T C 5: 121,318,651 V2030A probably benign Het
Hecw2 A G 1: 53,826,961 Y1514H probably damaging Het
Hmcn1 T C 1: 150,605,072 D4451G probably benign Het
Krtcap3 T C 5: 31,251,823 probably benign Het
Ltn1 A T 16: 87,420,807 probably benign Het
Mapkapk2 T C 1: 131,058,762 M1V probably null Het
Mical3 A T 6: 120,958,576 I1663N probably benign Het
Mvp G T 7: 127,001,961 probably benign Het
Myo5c A G 9: 75,263,042 I485V probably damaging Het
N4bp2 T A 5: 65,803,547 C520* probably null Het
Nos2 A G 11: 78,945,863 probably benign Het
Ogdh G A 11: 6,355,069 V925M probably damaging Het
Pde2a T A 7: 101,501,936 probably benign Het
Plpp6 A G 19: 28,964,879 *293W probably null Het
Pole T A 5: 110,303,884 I864K probably damaging Het
Scn1a T A 2: 66,322,343 I748F probably damaging Het
Sfmbt2 A T 2: 10,579,354 R841* probably null Het
Sh3bp5l A G 11: 58,338,001 N100S probably damaging Het
Spic T A 10: 88,675,761 D211V probably damaging Het
Stab2 A G 10: 86,940,613 probably benign Het
Tshr A G 12: 91,511,934 Y83C probably damaging Het
Vsir A G 10: 60,368,594 E172G probably damaging Het
Wwp2 T C 8: 107,549,781 S508P probably damaging Het
Other mutations in Rexo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Rexo4 APN 2 26962518 missense probably benign 0.01
IGL02223:Rexo4 APN 2 26955499 missense probably damaging 1.00
IGL02823:Rexo4 APN 2 26962477 missense probably benign 0.06
G1citation:Rexo4 UTSW 2 26960271 missense probably damaging 1.00
R0685:Rexo4 UTSW 2 26958574 splice site probably benign
R1792:Rexo4 UTSW 2 26960236 missense probably benign 0.00
R4912:Rexo4 UTSW 2 26962392 missense possibly damaging 0.78
R4934:Rexo4 UTSW 2 26960334 missense probably damaging 0.99
R5808:Rexo4 UTSW 2 26964185 missense probably damaging 0.98
R6822:Rexo4 UTSW 2 26960271 missense probably damaging 1.00
R7630:Rexo4 UTSW 2 26960610 missense probably damaging 1.00
R7673:Rexo4 UTSW 2 26958493 missense probably benign 0.11
R7728:Rexo4 UTSW 2 26964230 missense probably benign 0.08
R8245:Rexo4 UTSW 2 26960338 missense probably damaging 1.00
Posted On2013-12-03