Incidental Mutation 'R8211:Aven'
ID636154
Institutional Source Beutler Lab
Gene Symbol Aven
Ensembl Gene ENSMUSG00000003604
Gene Nameapoptosis, caspase activation inhibitor
Synonyms1700056A21Rik, 1700013A01Rik, mAven-L, mAven-S
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8211 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location112492964-112634573 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 112559775 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 8 (R8W)
Ref Sequence ENSEMBL: ENSMUSP00000097184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003705] [ENSMUST00000099588]
Predicted Effect probably benign
Transcript: ENSMUST00000003705
SMART Domains Protein: ENSMUSP00000003705
Gene: ENSMUSG00000003604

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
low complexity region 35 73 N/A INTRINSIC
low complexity region 260 273 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099588
AA Change: R8W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097184
Gene: ENSMUSG00000003604
AA Change: R8W

DomainStartEndE-ValueType
low complexity region 135 148 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
MGI Phenotype PHENOTYPE: Mice homozygous for a reporter allele exhibit increased cell death in response to various apoptotic stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik A G 5: 98,329,435 I28V possibly damaging Het
A330017A19Rik A G 17: 46,890,383 probably benign Het
Adamtsl3 T C 7: 82,523,163 S445P probably damaging Het
Afp T C 5: 90,501,486 I304T possibly damaging Het
Alk G A 17: 71,869,707 A1534V probably benign Het
Ank3 C T 10: 69,867,398 P287L unknown Het
Appl1 T C 14: 26,945,598 I367V probably benign Het
Arpin T A 7: 79,935,244 M1L probably damaging Het
B430203G13Rik A T 12: 17,924,539 H82L noncoding transcript Het
Bcl11a T A 11: 24,078,394 S2T probably damaging Het
Cfap46 T A 7: 139,633,304 M1605L unknown Het
Chga C A 12: 102,561,419 Q111K possibly damaging Het
Drc7 A G 8: 95,056,079 E24G unknown Het
Dst T C 1: 34,212,451 L2195P probably damaging Het
Enpp5 G A 17: 44,081,511 probably null Het
Fat2 A G 11: 55,312,209 L13P possibly damaging Het
Grhl1 T C 12: 24,586,152 probably null Het
Ikbke A G 1: 131,271,778 I326T probably damaging Het
Krt26 C T 11: 99,335,284 D195N probably damaging Het
Lamc2 A T 1: 153,166,278 C37S probably damaging Het
Lrriq1 A G 10: 103,170,547 L1239P probably damaging Het
Mrps5 T A 2: 127,603,724 H390Q probably benign Het
Nphp3 T A 9: 104,031,897 C769S possibly damaging Het
Obscn A G 11: 59,115,794 S1181P probably damaging Het
Olfr921 G A 9: 38,775,281 V9M noncoding transcript Het
Pabpc6 G T 17: 9,669,457 A55E probably damaging Het
Pcdha9 A T 18: 36,998,859 E327V possibly damaging Het
Pds5b A G 5: 150,728,942 T225A possibly damaging Het
Pi4ka A C 16: 17,282,905 I1807S Het
Pick1 T A 15: 79,248,730 I330N probably damaging Het
Rbm46 C T 3: 82,865,468 R119Q probably benign Het
Rubcn A C 16: 32,836,543 C502W possibly damaging Het
Slc26a10 G A 10: 127,173,965 R571C probably benign Het
Slc44a2 A T 9: 21,348,138 N587Y probably damaging Het
Slfn2 T G 11: 83,069,759 V188G possibly damaging Het
Smok2b T C 17: 13,235,793 V280A probably benign Het
Snx19 A G 9: 30,437,465 E798G probably benign Het
Sspo T C 6: 48,492,609 probably null Het
Ugt2b37 T C 5: 87,242,376 I404V probably benign Het
Vmn1r160 T C 7: 22,871,326 F35L possibly damaging Het
Vmn1r193 A T 13: 22,219,116 Y235* probably null Het
Vmn2r53 T C 7: 12,581,916 I659V probably benign Het
Vmn2r91 A G 17: 18,106,500 D349G probably damaging Het
Zfp292 A T 4: 34,806,163 S2299T probably benign Het
Zfp938 T C 10: 82,226,585 N67S possibly damaging Het
Other mutations in Aven
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Aven APN 2 112629785 missense possibly damaging 0.74
IGL01477:Aven APN 2 112629932 missense probably benign 0.04
Trifle UTSW 2 112627768 missense probably damaging 0.99
R1556:Aven UTSW 2 112630885 missense probably damaging 0.99
R2124:Aven UTSW 2 112625196 missense probably damaging 1.00
R4232:Aven UTSW 2 112627768 missense probably damaging 0.99
R5630:Aven UTSW 2 112514545 nonsense probably null
R7217:Aven UTSW 2 112630846 missense possibly damaging 0.84
R8196:Aven UTSW 2 112559775 missense probably benign
R8198:Aven UTSW 2 112559775 missense probably benign
R8199:Aven UTSW 2 112559775 missense probably benign
R8236:Aven UTSW 2 112559775 missense probably benign
R8239:Aven UTSW 2 112559775 missense probably benign
R8279:Aven UTSW 2 112559775 missense probably benign
R8283:Aven UTSW 2 112559775 missense probably benign
Predicted Primers PCR Primer
(F):5'- ATTTGGGATTCACGGAGGCAG -3'
(R):5'- TGGCTCAGAAATTCTCCAGAAC -3'

Sequencing Primer
(F):5'- CCCCAGGTGAGGACCATGTAAG -3'
(R):5'- AACTTACTTTACTGTCTCTAAAGCAG -3'
Posted On2020-07-13