Incidental Mutation 'IGL01126:Aen'
ID 278187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aen
Ensembl Gene ENSMUSG00000030609
Gene Name apoptosis enhancing nuclease
Synonyms 2700083B06Rik, Isg20l1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01126
Quality Score
Status
Chromosome 7
Chromosomal Location 78545675-78560957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78557050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 299 (M299I)
Ref Sequence ENSEMBL: ENSMUSP00000103048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107421] [ENSMUST00000107423] [ENSMUST00000107425] [ENSMUST00000138167] [ENSMUST00000205861] [ENSMUST00000205882]
AlphaFold Q9CZI9
Predicted Effect probably damaging
Transcript: ENSMUST00000107421
AA Change: M261I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103044
Gene: ENSMUSG00000030609
AA Change: M261I

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
EXOIII 70 236 2.04e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107423
AA Change: M299I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103046
Gene: ENSMUSG00000030609
AA Change: M299I

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
EXOIII 108 274 2.04e-42 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107425
AA Change: M299I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
AA Change: M299I

DomainStartEndE-ValueType
low complexity region 25 37 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
EXOIII 108 274 2.04e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123824
Predicted Effect probably benign
Transcript: ENSMUST00000138167
SMART Domains Protein: ENSMUSP00000117331
Gene: ENSMUSG00000030609

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
Pfam:RNase_T 72 138 1.9e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205861
AA Change: M157I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206661
Predicted Effect probably benign
Transcript: ENSMUST00000205882
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh9a1 C T 1: 167,192,143 (GRCm39) T425I probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Col1a2 G A 6: 4,535,846 (GRCm39) D939N unknown Het
Dnah5 T G 15: 28,302,545 (GRCm39) F1601V possibly damaging Het
Dock7 A G 4: 98,861,789 (GRCm39) probably benign Het
Dync2h1 T C 9: 7,116,588 (GRCm39) I83V probably benign Het
Fbxw17 A G 13: 50,577,336 (GRCm39) E76G possibly damaging Het
Map3k19 T A 1: 127,752,068 (GRCm39) K428* probably null Het
Phkb T C 8: 86,672,730 (GRCm39) M365T probably benign Het
Phyhip A G 14: 70,700,797 (GRCm39) S95G probably benign Het
Pla1a T C 16: 38,228,001 (GRCm39) D292G probably benign Het
Prkdc T A 16: 15,487,185 (GRCm39) V496D probably benign Het
Rasal3 T C 17: 32,616,379 (GRCm39) T271A possibly damaging Het
Slc22a19 T C 19: 7,651,648 (GRCm39) N520D possibly damaging Het
Sugp2 T C 8: 70,704,524 (GRCm39) L687P probably damaging Het
Ttn A T 2: 76,537,590 (GRCm39) H34779Q probably benign Het
Txlna A G 4: 129,528,158 (GRCm39) probably benign Het
Ubr4 T A 4: 139,129,866 (GRCm39) M662K probably benign Het
Ugt1a10 C A 1: 87,983,709 (GRCm39) A169E possibly damaging Het
Other mutations in Aen
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01062:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01065:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01067:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01068:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01069:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01070:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01086:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01089:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01128:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01133:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01134:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
IGL01147:Aen APN 7 78,557,050 (GRCm39) missense probably damaging 0.96
R1433:Aen UTSW 7 78,557,060 (GRCm39) missense probably damaging 1.00
R1543:Aen UTSW 7 78,552,370 (GRCm39) missense probably damaging 1.00
R1615:Aen UTSW 7 78,555,660 (GRCm39) missense probably damaging 1.00
R1886:Aen UTSW 7 78,557,073 (GRCm39) missense probably damaging 0.98
R1887:Aen UTSW 7 78,557,073 (GRCm39) missense probably damaging 0.98
R1918:Aen UTSW 7 78,555,777 (GRCm39) missense possibly damaging 0.96
R1919:Aen UTSW 7 78,555,660 (GRCm39) missense probably damaging 1.00
R1946:Aen UTSW 7 78,552,420 (GRCm39) missense probably damaging 1.00
R2192:Aen UTSW 7 78,555,793 (GRCm39) critical splice donor site probably null
R2224:Aen UTSW 7 78,552,199 (GRCm39) missense probably benign 0.30
R2225:Aen UTSW 7 78,552,199 (GRCm39) missense probably benign 0.30
R2226:Aen UTSW 7 78,552,199 (GRCm39) missense probably benign 0.30
R2244:Aen UTSW 7 78,557,045 (GRCm39) missense probably damaging 1.00
R2516:Aen UTSW 7 78,555,616 (GRCm39) missense probably damaging 1.00
R4943:Aen UTSW 7 78,552,109 (GRCm39) missense probably damaging 0.99
R5634:Aen UTSW 7 78,552,255 (GRCm39) missense probably benign 0.01
R5834:Aen UTSW 7 78,557,049 (GRCm39) missense probably damaging 1.00
R5961:Aen UTSW 7 78,556,907 (GRCm39) missense probably damaging 1.00
R6130:Aen UTSW 7 78,552,387 (GRCm39) splice site probably null
R6255:Aen UTSW 7 78,555,592 (GRCm39) missense probably damaging 1.00
R6400:Aen UTSW 7 78,557,142 (GRCm39) missense probably benign 0.02
R7303:Aen UTSW 7 78,552,204 (GRCm39) missense possibly damaging 0.77
R8207:Aen UTSW 7 78,552,491 (GRCm39) missense possibly damaging 0.55
R8476:Aen UTSW 7 78,556,947 (GRCm39) missense probably damaging 1.00
R9230:Aen UTSW 7 78,552,107 (GRCm39) missense probably damaging 0.96
Z1177:Aen UTSW 7 78,552,514 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16