Incidental Mutation 'R4225:Aif1l'
ID 319990
Institutional Source Beutler Lab
Gene Symbol Aif1l
Ensembl Gene ENSMUSG00000001864
Gene Name allograft inflammatory factor 1-like
Synonyms 2810003C17Rik
MMRRC Submission 041045-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4225 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 31840315-31863454 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31852251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 40 (S40C)
Ref Sequence ENSEMBL: ENSMUSP00000141549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001920] [ENSMUST00000148056] [ENSMUST00000151276]
AlphaFold Q9EQX4
Predicted Effect probably damaging
Transcript: ENSMUST00000001920
AA Change: S40C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001920
Gene: ENSMUSG00000001864
AA Change: S40C

DomainStartEndE-ValueType
PDB:2VTG|A 1 150 1e-103 PDB
SCOP:d1el4a_ 35 115 2e-9 SMART
Blast:EFh 51 79 3e-11 BLAST
Blast:EFh 87 115 1e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140649
Predicted Effect probably damaging
Transcript: ENSMUST00000148056
AA Change: S40C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141549
Gene: ENSMUSG00000001864
AA Change: S40C

DomainStartEndE-ValueType
PDB:2VTG|A 1 136 3e-88 PDB
SCOP:d1el4a_ 58 101 4e-6 SMART
Blast:EFh 73 101 6e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156743
Predicted Effect probably benign
Transcript: ENSMUST00000151276
Meta Mutation Damage Score 0.1945 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,085,106 (GRCm39) I569V possibly damaging Het
Arhgef26 A G 3: 62,288,343 (GRCm39) D471G probably benign Het
Atp2a2 A G 5: 122,607,789 (GRCm39) V240A probably benign Het
Bsn A G 9: 107,983,932 (GRCm39) M3374T unknown Het
Ccdc66 A G 14: 27,212,736 (GRCm39) L529P probably damaging Het
Ctif A G 18: 75,568,308 (GRCm39) I610T probably benign Het
Ecpas A T 4: 58,847,027 (GRCm39) Y512N probably damaging Het
Eif3c C G 7: 126,165,471 (GRCm39) probably benign Het
Esyt1 T C 10: 128,356,517 (GRCm39) Y376C probably damaging Het
Gba2 A T 4: 43,569,464 (GRCm39) probably benign Het
Grin1 T C 2: 25,187,332 (GRCm39) probably benign Het
Herc2 A G 7: 55,814,735 (GRCm39) E2696G probably damaging Het
Itgal A T 7: 126,904,484 (GRCm39) K319M probably damaging Het
Lama3 T C 18: 12,583,460 (GRCm39) C683R probably damaging Het
Lrig1 T A 6: 94,599,639 (GRCm39) I348F probably damaging Het
Mc3r G A 2: 172,090,954 (GRCm39) V59M probably damaging Het
Msh3 T C 13: 92,422,431 (GRCm39) K575R probably benign Het
Musk A T 4: 58,373,240 (GRCm39) M714L probably damaging Het
Odad2 A G 18: 7,181,732 (GRCm39) probably null Het
Pcdhgb7 T A 18: 37,886,856 (GRCm39) D675E probably benign Het
Pkd1 T C 17: 24,812,497 (GRCm39) I3810T possibly damaging Het
Pou2f1 T C 1: 165,738,889 (GRCm39) I177V possibly damaging Het
Rb1 T C 14: 73,506,631 (GRCm39) M373V possibly damaging Het
Ric1 A G 19: 29,580,131 (GRCm39) N1311D possibly damaging Het
Scn3a A G 2: 65,366,771 (GRCm39) Y84H probably damaging Het
Slc25a45 A T 19: 5,930,146 (GRCm39) I39F probably damaging Het
Slc8a1 A G 17: 81,956,781 (GRCm39) F86L probably damaging Het
Spdya G A 17: 71,869,519 (GRCm39) V105I probably benign Het
Sspo G T 6: 48,428,091 (GRCm39) V313L possibly damaging Het
Stard9 A G 2: 120,495,472 (GRCm39) T116A possibly damaging Het
Stpg2 G A 3: 138,921,053 (GRCm39) R86Q probably damaging Het
Tdrd6 C T 17: 43,936,864 (GRCm39) D1395N probably damaging Het
Vmn2r101 T A 17: 19,831,951 (GRCm39) I649N probably damaging Het
Zcchc18 A T X: 135,895,415 (GRCm39) N10I probably damaging Het
Other mutations in Aif1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1764:Aif1l UTSW 2 31,855,118 (GRCm39) missense probably benign 0.25
R2358:Aif1l UTSW 2 31,859,763 (GRCm39) missense probably damaging 1.00
R3711:Aif1l UTSW 2 31,859,763 (GRCm39) missense probably damaging 1.00
R4222:Aif1l UTSW 2 31,852,251 (GRCm39) missense probably damaging 0.99
R4223:Aif1l UTSW 2 31,852,251 (GRCm39) missense probably damaging 0.99
R4224:Aif1l UTSW 2 31,852,251 (GRCm39) missense probably damaging 0.99
R7250:Aif1l UTSW 2 31,859,764 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTAGTAAGCTCTGCCCCTAG -3'
(R):5'- TCAAAGCCCTATGGAAAGTGG -3'

Sequencing Primer
(F):5'- TGCCCCTAGCTGCAGAGAAC -3'
(R):5'- CATTCTGGATGAATCAGAGCTGC -3'
Posted On 2015-06-12