Incidental Mutation 'R1122:Aif1'
ID 95784
Institutional Source Beutler Lab
Gene Symbol Aif1
Ensembl Gene ENSMUSG00000024397
Gene Name allograft inflammatory factor 1
Synonyms G1, D17H6S50E, Iba1
MMRRC Submission 039195-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R1122 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35389967-35394977 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35391127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 44 (P44L)
Ref Sequence ENSEMBL: ENSMUSP00000134107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025257] [ENSMUST00000172693] [ENSMUST00000173106] [ENSMUST00000173324]
AlphaFold O70200
Predicted Effect probably benign
Transcript: ENSMUST00000025257
AA Change: P44L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025257
Gene: ENSMUSG00000024397
AA Change: P44L

DomainStartEndE-ValueType
PDB:1WY9|A 1 147 1e-104 PDB
SCOP:d1mr8a_ 48 130 7e-10 SMART
Blast:EFh 49 77 1e-10 BLAST
Blast:EFh 85 113 1e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172679
Predicted Effect probably benign
Transcript: ENSMUST00000172693
AA Change: P44L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134214
Gene: ENSMUSG00000024397
AA Change: P44L

DomainStartEndE-ValueType
PDB:1WY9|A 1 147 1e-104 PDB
SCOP:d1mr8a_ 48 130 7e-10 SMART
Blast:EFh 49 77 1e-10 BLAST
Blast:EFh 85 113 1e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173106
AA Change: P44L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000134107
Gene: ENSMUSG00000024397
AA Change: P44L

DomainStartEndE-ValueType
PDB:1WY9|A 1 128 4e-47 PDB
Blast:EFh 98 122 4e-9 BLAST
SCOP:d1mr8a_ 98 128 7e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173281
Predicted Effect probably benign
Transcript: ENSMUST00000173324
AA Change: P44L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133709
Gene: ENSMUSG00000024397
AA Change: P44L

DomainStartEndE-ValueType
PDB:1WY9|A 1 147 1e-104 PDB
SCOP:d1mr8a_ 48 130 7e-10 SMART
Blast:EFh 49 77 1e-10 BLAST
Blast:EFh 85 113 1e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174044
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased spleen weight, decreased platalet cell number and decreased susceptibility to induced arthritis. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 69,902,203 (GRCm39) L469F probably damaging Het
Adgrb1 C A 15: 74,419,534 (GRCm39) R792S probably damaging Het
Arhgap15 A T 2: 44,032,307 (GRCm39) H297L probably benign Het
Chtf18 T C 17: 25,943,597 (GRCm39) E333G probably damaging Het
Cyb5a A G 18: 84,895,964 (GRCm39) T77A possibly damaging Het
Entrep1 T C 19: 23,952,756 (GRCm39) E518G probably damaging Het
Exosc10 T C 4: 148,650,821 (GRCm39) W456R possibly damaging Het
Fhip2a A T 19: 57,370,733 (GRCm39) T551S probably benign Het
Gad2 A T 2: 22,513,463 (GRCm39) Q31L possibly damaging Het
Gm9637 T A 14: 19,401,879 (GRCm38) noncoding transcript Het
Itgav A G 2: 83,622,283 (GRCm39) T622A probably benign Het
Kifc5b T A 17: 27,143,035 (GRCm39) V269E probably benign Het
Lrrc15 T C 16: 30,092,719 (GRCm39) N207D probably damaging Het
Map2k5 A G 9: 63,170,445 (GRCm39) V291A probably damaging Het
Mrc1 G A 2: 14,266,147 (GRCm39) probably null Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or12d12 T A 17: 37,611,019 (GRCm39) Q98L probably damaging Het
Or1o2 T A 17: 37,542,934 (GRCm39) D109V probably damaging Het
Pdzd2 A G 15: 12,457,981 (GRCm39) V294A probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rnf220 C T 4: 117,135,277 (GRCm39) G171S probably benign Het
Slc6a4 T C 11: 76,918,012 (GRCm39) S585P possibly damaging Het
Slc7a8 T C 14: 54,961,564 (GRCm39) E528G probably benign Het
Slco4c1 A G 1: 96,756,561 (GRCm39) I587T possibly damaging Het
Syt4 T A 18: 31,573,255 (GRCm39) H420L probably damaging Het
Tec T C 5: 72,936,792 (GRCm39) K236E probably damaging Het
Ttn A G 2: 76,545,676 (GRCm39) V32549A probably damaging Het
Uqcc4 T C 17: 25,403,846 (GRCm39) I62T probably benign Het
Wdfy3 T C 5: 102,030,832 (GRCm39) H2299R possibly damaging Het
Zfp729b A G 13: 67,743,403 (GRCm39) V64A possibly damaging Het
Other mutations in Aif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01717:Aif1 APN 17 35,390,531 (GRCm39) missense probably damaging 1.00
IGL03279:Aif1 APN 17 35,390,523 (GRCm39) nonsense probably null
N/A:Aif1 UTSW 17 35,391,496 (GRCm39) missense possibly damaging 0.83
R0396:Aif1 UTSW 17 35,390,085 (GRCm39) makesense probably null
R1062:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1063:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1064:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1105:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1154:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1286:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1447:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1678:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1689:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1750:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1911:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R1974:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R2314:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R2338:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R2341:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R2915:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
R4953:Aif1 UTSW 17 35,390,074 (GRCm39) splice site probably null
R5260:Aif1 UTSW 17 35,390,917 (GRCm39) critical splice acceptor site probably null
R6786:Aif1 UTSW 17 35,390,472 (GRCm39) missense probably damaging 1.00
R7503:Aif1 UTSW 17 35,390,549 (GRCm39) missense probably damaging 1.00
R7534:Aif1 UTSW 17 35,390,390 (GRCm39) missense possibly damaging 0.77
R7891:Aif1 UTSW 17 35,391,600 (GRCm39) start gained probably benign
R8075:Aif1 UTSW 17 35,390,811 (GRCm39) missense unknown
Y4338:Aif1 UTSW 17 35,391,127 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CGCCGCCCATGTATTATTGGTTGTG -3'
(R):5'- TCTGTACCCCTCAGGAGGAAAAGC -3'

Sequencing Primer
(F):5'- CCATGTACTTCACTGGACGAG -3'
(R):5'- TTTGGACTGCTGAAGGCCC -3'
Posted On 2014-01-05