Incidental Mutation 'IGL01069:Aen'
ID278145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aen
Ensembl Gene ENSMUSG00000030609
Gene Nameapoptosis enhancing nuclease
SynonymsIsg20l1, 2700083B06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.200) question?
Stock #IGL01069
Quality Score
Status
Chromosome7
Chromosomal Location78895854-78911209 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78907302 bp
ZygosityHeterozygous
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]
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 probably benign
Transcript: ENSMUST00000205882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206661
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
1700123K08Rik C T 5: 138,562,489 A215T probably benign Het
Apc2 G A 10: 80,311,986 C929Y probably damaging Het
Arap2 T C 5: 62,649,856 H1156R probably benign Het
Arhgap9 A G 10: 127,328,952 T582A probably damaging Het
Ccdc57 T A 11: 120,861,259 H832L probably benign Het
Ces3b T C 8: 105,091,574 S92P probably benign Het
Ces5a A G 8: 93,525,544 probably null Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cpb2 T A 14: 75,270,775 D225E probably damaging Het
Cpne8 C T 15: 90,615,110 probably null Het
Cux2 G A 5: 121,867,351 T924M possibly damaging Het
Dtl T A 1: 191,561,539 probably null Het
Dysf T A 6: 84,199,785 I1912N possibly damaging Het
Edc4 T A 8: 105,887,134 F369I probably benign Het
Fibcd1 T C 2: 31,821,519 E298G probably benign Het
Focad C A 4: 88,326,146 H788N unknown Het
Frem1 C T 4: 83,013,867 R199H probably benign Het
Gadl1 T C 9: 115,954,839 probably null Het
Hipk1 G A 3: 103,777,699 T200I possibly damaging Het
Ighv14-2 C T 12: 113,994,759 V21I possibly damaging Het
Kank4 A T 4: 98,778,395 I605N probably damaging Het
Krt88 T G 15: 101,453,627 *172G probably null Het
Lmf2 C A 15: 89,352,888 A408S probably benign Het
Lsm12 T C 11: 102,164,070 probably benign Het
Myo3b A G 2: 70,245,391 I580V probably benign Het
Myt1 T C 2: 181,825,956 M1061T probably damaging Het
Nup133 G A 8: 123,930,982 R405* probably null Het
Olfr1032 A G 2: 86,008,547 Y257C probably damaging Het
Olfr1377 A T 11: 50,985,003 I101F possibly damaging Het
Olfr229 A T 9: 39,910,606 M268L possibly damaging Het
Pcnx A G 12: 81,918,144 R362G probably benign Het
Pomt2 G T 12: 87,110,304 T747K probably damaging Het
Rgma G A 7: 73,417,491 A165T probably damaging Het
Rhbdf2 T C 11: 116,601,751 D437G possibly damaging Het
Rpl5 T C 5: 107,907,279 probably null Het
Rtkn2 A G 10: 68,041,664 D518G probably benign Het
Sclt1 T C 3: 41,741,991 probably benign Het
Sidt2 C T 9: 45,943,077 V616I possibly damaging Het
Ska2 A G 11: 87,109,265 probably benign Het
Slc13a4 C A 6: 35,268,882 L609F probably damaging Het
Sorbs3 T C 14: 70,191,155 E390G probably damaging Het
Syt15 T C 14: 34,224,924 V220A possibly damaging Het
Tob1 T C 11: 94,214,055 F139S probably damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Aen
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Aen APN 7 78907302 missense probably damaging 0.96
IGL01062:Aen APN 7 78907302 missense probably damaging 0.96
IGL01065:Aen APN 7 78907302 missense probably damaging 0.96
IGL01067:Aen APN 7 78907302 missense probably damaging 0.96
IGL01068:Aen APN 7 78907302 missense probably damaging 0.96
IGL01070:Aen APN 7 78907302 missense probably damaging 0.96
IGL01086:Aen APN 7 78907302 missense probably damaging 0.96
IGL01089:Aen APN 7 78907302 missense probably damaging 0.96
IGL01126:Aen APN 7 78907302 missense probably damaging 0.96
IGL01128:Aen APN 7 78907302 missense probably damaging 0.96
IGL01133:Aen APN 7 78907302 missense probably damaging 0.96
IGL01134:Aen APN 7 78907302 missense probably damaging 0.96
IGL01147:Aen APN 7 78907302 missense probably damaging 0.96
R1433:Aen UTSW 7 78907312 missense probably damaging 1.00
R1543:Aen UTSW 7 78902622 missense probably damaging 1.00
R1615:Aen UTSW 7 78905912 missense probably damaging 1.00
R1886:Aen UTSW 7 78907325 missense probably damaging 0.98
R1887:Aen UTSW 7 78907325 missense probably damaging 0.98
R1918:Aen UTSW 7 78906029 missense possibly damaging 0.96
R1919:Aen UTSW 7 78905912 missense probably damaging 1.00
R1946:Aen UTSW 7 78902672 missense probably damaging 1.00
R2192:Aen UTSW 7 78906045 critical splice donor site probably null
R2224:Aen UTSW 7 78902451 missense probably benign 0.30
R2225:Aen UTSW 7 78902451 missense probably benign 0.30
R2226:Aen UTSW 7 78902451 missense probably benign 0.30
R2244:Aen UTSW 7 78907297 missense probably damaging 1.00
R2516:Aen UTSW 7 78905868 missense probably damaging 1.00
R4943:Aen UTSW 7 78902361 missense probably damaging 0.99
R5634:Aen UTSW 7 78902507 missense probably benign 0.01
R5834:Aen UTSW 7 78907301 missense probably damaging 1.00
R5961:Aen UTSW 7 78907159 missense probably damaging 1.00
R6130:Aen UTSW 7 78902639 unclassified probably null
R6255:Aen UTSW 7 78905844 missense probably damaging 1.00
R6400:Aen UTSW 7 78907394 missense probably benign 0.02
Posted On2015-04-16