Incidental Mutation 'IGL01069:Aen'
ID 278145
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 # IGL01069
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null 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
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
IGL01126: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