Incidental Mutation 'R1887:Aen'
ID 209645
Institutional Source Beutler Lab
Gene Symbol Aen
Ensembl Gene ENSMUSG00000030609
Gene Name apoptosis enhancing nuclease
Synonyms 2700083B06Rik, Isg20l1
MMRRC Submission 039908-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1887 (G1)
Quality Score 182
Status Not validated
Chromosome 7
Chromosomal Location 78545675-78560957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78557073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 307 (D307V)
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: D269V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103044
Gene: ENSMUSG00000030609
AA Change: D269V

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: D307V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103046
Gene: ENSMUSG00000030609
AA Change: D307V

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: D307V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
AA Change: D307V

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 probably damaging
Transcript: ENSMUST00000205861
AA Change: D165V

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206661
Predicted Effect probably benign
Transcript: ENSMUST00000205882
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.1%
  • 10x: 93.2%
  • 20x: 86.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
4930544D05Rik A G 11: 70,507,249 (GRCm39) E98G probably damaging Het
Abca8a A T 11: 109,980,768 (GRCm39) M90K probably damaging Het
Adamts9 A G 6: 92,849,769 (GRCm39) probably null Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Akr1c18 T A 13: 4,193,287 (GRCm39) N126I probably benign Het
Ankmy2 T A 12: 36,220,467 (GRCm39) M51K possibly damaging Het
Antkmt C A 17: 26,010,319 (GRCm39) probably null Het
Apc A G 18: 34,405,521 (GRCm39) E159G probably damaging Het
Arhgef28 G T 13: 98,282,081 (GRCm39) S4R probably damaging Het
Atg2b G A 12: 105,620,351 (GRCm39) T784M probably benign Het
Atp11a A G 8: 12,862,324 (GRCm39) N59D probably damaging Het
Cacna1h T C 17: 25,595,861 (GRCm39) Y1875C probably benign Het
Capza1 A T 3: 104,747,096 (GRCm39) probably null Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdcp2 T C 4: 106,959,899 (GRCm39) F105L probably damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Cep152 A T 2: 125,462,225 (GRCm39) M58K probably benign Het
Comtd1 A G 14: 21,897,809 (GRCm39) L108P probably damaging Het
Cyp2b13 A G 7: 25,788,075 (GRCm39) Y401C probably damaging Het
Dap3 A G 3: 88,838,281 (GRCm39) L86P probably damaging Het
Dmxl1 G A 18: 49,992,202 (GRCm39) R316H probably benign Het
Eea1 T A 10: 95,854,073 (GRCm39) probably null Het
Eeig1 T A 2: 32,450,140 (GRCm39) N129K possibly damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fam171a1 T C 2: 3,221,380 (GRCm39) V157A probably damaging Het
Fat3 T A 9: 15,878,357 (GRCm39) I3375F probably damaging Het
Fmod A G 1: 133,968,551 (GRCm39) E197G possibly damaging Het
Fsd1l T C 4: 53,696,984 (GRCm39) probably null Het
Gbp2b A G 3: 142,314,063 (GRCm39) T448A probably benign Het
Gpatch1 A T 7: 35,002,813 (GRCm39) N232K probably damaging Het
H2-Q4 A G 17: 35,599,113 (GRCm39) R128G possibly damaging Het
Hc T C 2: 34,924,623 (GRCm39) I435V probably benign Het
Hmgxb3 A G 18: 61,270,473 (GRCm39) probably null Het
Il23r A T 6: 67,450,785 (GRCm39) D231E possibly damaging Het
Irag1 A G 7: 110,523,740 (GRCm39) probably null Het
Kcnt2 T A 1: 140,511,985 (GRCm39) S1023T probably damaging Het
Klc2 A G 19: 5,158,640 (GRCm39) V618A probably benign Het
Lzts1 T C 8: 69,591,485 (GRCm39) D221G probably damaging Het
Mdn1 G C 4: 32,742,540 (GRCm39) R3926P probably damaging Het
Med24 A G 11: 98,609,642 (GRCm39) probably benign Het
Mga T A 2: 119,754,098 (GRCm39) L869Q probably damaging Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nlrp5 T A 7: 23,116,909 (GRCm39) V211D probably damaging Het
Nr1h4 A T 10: 89,290,729 (GRCm39) M433K possibly damaging Het
Ofcc1 T C 13: 40,360,100 (GRCm39) S310G possibly damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or8k22 A G 2: 86,163,617 (GRCm39) F28L possibly damaging Het
Pdlim7 C T 13: 55,653,981 (GRCm39) G212D probably benign Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pik3cd T A 4: 149,737,091 (GRCm39) I902F probably damaging Het
Pip5kl1 A G 2: 32,468,517 (GRCm39) T198A probably damaging Het
Prkdc T C 16: 15,647,499 (GRCm39) V3641A probably benign Het
Rp1l1 T C 14: 64,265,839 (GRCm39) V475A probably benign Het
Rpl37 C T 15: 5,148,072 (GRCm39) T83M possibly damaging Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Serinc5 A T 13: 92,838,214 (GRCm39) D340V possibly damaging Het
Stambpl1 A G 19: 34,213,808 (GRCm39) I346V probably benign Het
Syna G A 5: 134,588,106 (GRCm39) S281L probably benign Het
Tcstv2a G T 13: 120,725,604 (GRCm39) K89N probably damaging Het
Tet2 T C 3: 133,193,094 (GRCm39) T447A possibly damaging Het
Tgfbr3 A G 5: 107,284,874 (GRCm39) F592L probably damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Trip4 T A 9: 65,782,163 (GRCm39) I190F probably null Het
Ttc6 T A 12: 57,720,044 (GRCm39) S872T probably benign Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ubr4 T C 4: 139,182,871 (GRCm39) L419P probably damaging Het
Ush2a C A 1: 188,132,177 (GRCm39) Q800K probably benign Het
Vmn2r115 T C 17: 23,565,007 (GRCm39) I298T possibly damaging Het
Vmn2r28 T C 7: 5,491,288 (GRCm39) T320A possibly damaging Het
Zfp804b T C 5: 6,820,376 (GRCm39) R860G probably 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGCCCATTTCACTACGTAG -3'
(R):5'- AGTGCCCTTAAGTTACCCCAG -3'

Sequencing Primer
(F):5'- CTGTTCACAGGTCGGTCAC -3'
(R):5'- ACAGTTCCTCATGCTGTGGAGAC -3'
Posted On 2014-06-30