Incidental Mutation 'R8198:Aven'
ID 635523
Institutional Source Beutler Lab
Gene Symbol Aven
Ensembl Gene ENSMUSG00000003604
Gene Name apoptosis, caspase activation inhibitor
Synonyms mAven-L, 1700056A21Rik, 1700013A01Rik, mAven-S
MMRRC Submission 067621-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8198 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 112323231-112461598 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 112390120 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D9K3
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (47/47)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik T C 14: 41,825,017 (GRCm39) *168R probably null Het
Adgrb1 C A 15: 74,411,094 (GRCm39) T330K probably damaging Het
Ankrd27 T C 7: 35,307,880 (GRCm39) V373A probably benign Het
Aoah C T 13: 21,101,290 (GRCm39) P270L probably damaging Het
AU041133 C G 10: 81,987,249 (GRCm39) P301A probably damaging Het
Cd2bp2 A G 7: 126,793,576 (GRCm39) S204P possibly damaging Het
Clca4b C A 3: 144,638,167 (GRCm39) G32C probably damaging Het
Clcn2 A G 16: 20,525,946 (GRCm39) V808A probably damaging Het
Clec4d T C 6: 123,244,965 (GRCm39) C82R probably damaging Het
Dennd1c T C 17: 57,373,460 (GRCm39) D671G possibly damaging Het
Eml5 G A 12: 98,825,145 (GRCm39) R691* probably null Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Gm4922 T C 10: 18,659,340 (GRCm39) T461A probably benign Het
Gm9964 A G 11: 79,187,405 (GRCm39) V14A unknown Het
Gnb3 T C 6: 124,814,000 (GRCm39) Y196C probably benign Het
H4c2 C G 13: 23,941,283 (GRCm39) Q94E possibly damaging Het
Hps1 C T 19: 42,755,659 (GRCm39) R189Q probably benign Het
Iars2 G A 1: 185,029,703 (GRCm39) T638I probably benign Het
Itpripl2 A G 7: 118,089,819 (GRCm39) S247P probably damaging Het
Leng8 C A 7: 4,147,170 (GRCm39) R523S possibly damaging Het
Lhfpl3 T A 5: 23,478,333 (GRCm39) V72D probably benign Het
Lmntd2 A T 7: 140,791,134 (GRCm39) M426K possibly damaging Het
Lsg1 A T 16: 30,383,594 (GRCm39) V542E probably benign Het
Mphosph6 C T 8: 118,519,449 (GRCm39) V108I probably benign Het
Mta2 A G 19: 8,925,145 (GRCm39) T338A probably benign Het
Ncoa7 T C 10: 30,580,664 (GRCm39) N98S probably benign Het
Or52h7 T A 7: 104,214,140 (GRCm39) D237E probably benign Het
Or7a36 C A 10: 78,820,443 (GRCm39) T273K probably benign Het
Or7a42 T A 10: 78,791,558 (GRCm39) V173E probably damaging Het
Pgr T C 9: 8,958,411 (GRCm39) V806A possibly damaging Het
Rad54b T C 4: 11,612,440 (GRCm39) probably null Het
Sdad1 A T 5: 92,439,811 (GRCm39) C405S probably damaging Het
Semp2l2a T A 8: 13,887,056 (GRCm39) Y345F probably benign Het
Shoc1 T C 4: 59,065,174 (GRCm39) I814V probably benign Het
Smg1 T C 7: 117,744,829 (GRCm39) I3108V probably benign Het
Spink5 A T 18: 44,125,947 (GRCm39) I409F probably benign Het
Syt13 C A 2: 92,783,899 (GRCm39) L390M probably damaging Het
Taf5 T A 19: 47,064,212 (GRCm39) V385E probably damaging Het
Tdrd9 T A 12: 112,006,863 (GRCm39) V909E probably damaging Het
Tex9 G A 9: 72,387,940 (GRCm39) probably benign Het
Timm10b G T 7: 105,327,537 (GRCm39) E61* probably null Het
Tmprss11g A T 5: 86,646,352 (GRCm39) F72I probably benign Het
Trank1 T C 9: 111,219,880 (GRCm39) C2206R probably benign Het
Uba52rt C A 4: 3,973,346 (GRCm39) R72L probably benign Het
Unc45b GC G 11: 82,816,814 (GRCm39) probably null Het
Unc93b1 T C 19: 3,991,910 (GRCm39) S215P possibly damaging Het
Usp48 C T 4: 137,348,470 (GRCm39) probably benign Het
Vmn1r81 A G 7: 11,993,882 (GRCm39) V242A possibly damaging Het
Zgrf1 T A 3: 127,389,673 (GRCm39) probably null Het
Other mutations in Aven
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Aven APN 2 112,460,130 (GRCm39) missense possibly damaging 0.74
IGL01477:Aven APN 2 112,460,277 (GRCm39) missense probably benign 0.04
Trifle UTSW 2 112,458,113 (GRCm39) missense probably damaging 0.99
R1556:Aven UTSW 2 112,461,230 (GRCm39) missense probably damaging 0.99
R2124:Aven UTSW 2 112,455,541 (GRCm39) missense probably damaging 1.00
R4232:Aven UTSW 2 112,458,113 (GRCm39) missense probably damaging 0.99
R5630:Aven UTSW 2 112,344,890 (GRCm39) nonsense probably null
R7217:Aven UTSW 2 112,461,191 (GRCm39) missense possibly damaging 0.84
R8196:Aven UTSW 2 112,390,120 (GRCm39) missense probably benign
R8199:Aven UTSW 2 112,390,120 (GRCm39) missense probably benign
R8211:Aven UTSW 2 112,390,120 (GRCm39) missense probably benign
R8236:Aven UTSW 2 112,390,120 (GRCm39) missense probably benign
R8239:Aven UTSW 2 112,390,120 (GRCm39) missense probably benign
R8279:Aven UTSW 2 112,390,120 (GRCm39) missense probably benign
R8283:Aven UTSW 2 112,390,120 (GRCm39) missense probably benign
R9542:Aven UTSW 2 112,455,517 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGTGCCATGAGATTGGAG -3'
(R):5'- TCAAATGAAACATGAGTGTGGCTC -3'

Sequencing Primer
(F):5'- CCCCAGGTGAGGACCATGTAAG -3'
(R):5'- GTGTGGCTCAGAAATTCTCCAGAAC -3'
Posted On 2020-07-13