Incidental Mutation 'R1447:Aif1'
ID 160736
Institutional Source Beutler Lab
Gene Symbol Aif1
Ensembl Gene ENSMUSG00000024397
Gene Name allograft inflammatory factor 1
Synonyms G1, D17H6S50E, Iba1
MMRRC Submission 039502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R1447 (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: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 84.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,263,447 (GRCm39) D603V probably benign Het
Ahnak A T 19: 8,984,446 (GRCm39) E1910V probably damaging Het
Amotl1 A G 9: 14,467,038 (GRCm39) V704A probably benign Het
Ankrd50 A T 3: 38,509,691 (GRCm39) V892E probably damaging Het
Aoc1 G A 6: 48,883,176 (GRCm39) V351I probably benign Het
Atp6v1b1 T C 6: 83,734,924 (GRCm39) V412A possibly damaging Het
Atp8b2 A T 3: 89,851,477 (GRCm39) I906N probably damaging Het
Bltp1 T C 3: 37,019,735 (GRCm39) L2048P probably damaging Het
Bnc2 A G 4: 84,211,457 (GRCm39) V304A probably benign Het
Btaf1 A G 19: 36,969,854 (GRCm39) D1176G probably benign Het
C1qtnf3 G A 15: 10,952,735 (GRCm39) G66R probably damaging Het
Ccdc162 T C 10: 41,456,243 (GRCm39) E360G probably damaging Het
Csmd1 C A 8: 15,975,306 (GRCm39) G2968* probably null Het
Cyp2j7 A T 4: 96,083,530 (GRCm39) F473L possibly damaging Het
Ddx24 T C 12: 103,390,566 (GRCm39) K142E possibly damaging Het
Dnah1 A T 14: 31,028,855 (GRCm39) M625K probably benign Het
Dnah9 A T 11: 65,999,308 (GRCm39) Y944N possibly damaging Het
Eef1akmt1 T A 14: 57,803,441 (GRCm39) K38* probably null Het
Enpp2 C T 15: 54,782,994 (GRCm39) probably null Het
Eps8l1 A G 7: 4,477,055 (GRCm39) E508G probably damaging Het
Etaa1 A T 11: 17,896,625 (GRCm39) D497E possibly damaging Het
Fam181b C T 7: 92,729,368 (GRCm39) A47V probably damaging Het
Fubp3 T C 2: 31,490,559 (GRCm39) V221A probably damaging Het
Golga2 T C 2: 32,187,788 (GRCm39) V191A possibly damaging Het
Haus5 G T 7: 30,361,216 (GRCm39) probably null Het
Hydin T C 8: 111,249,798 (GRCm39) L2247P probably damaging Het
Lama5 A C 2: 179,827,671 (GRCm39) I2197S probably damaging Het
Mapre3 C T 5: 31,019,151 (GRCm39) probably benign Het
Mast2 C A 4: 116,169,210 (GRCm39) M733I probably benign Het
Mphosph10 A T 7: 64,030,698 (GRCm39) F514I probably damaging Het
Mterf3 A G 13: 67,065,103 (GRCm39) L266P probably damaging Het
Nup205 A G 6: 35,192,120 (GRCm39) D1114G probably benign Het
Or1ak2 T G 2: 36,827,788 (GRCm39) V219G possibly damaging Het
Or1e21 A G 11: 73,344,700 (GRCm39) F113L probably benign Het
Phf24 G T 4: 42,938,232 (GRCm39) E119* probably null Het
Pik3r5 G A 11: 68,385,003 (GRCm39) R636Q probably benign Het
Plaat3 G A 19: 7,556,598 (GRCm39) R133H probably benign Het
Rida T A 15: 34,488,757 (GRCm39) Q45L possibly damaging Het
Ros1 T C 10: 51,974,954 (GRCm39) T1544A possibly damaging Het
Rpl7 T A 1: 16,172,821 (GRCm39) Y166F probably benign Het
Rps6ka5 A G 12: 100,544,084 (GRCm39) I338T probably benign Het
Scn3a A T 2: 65,300,324 (GRCm39) N1347K probably damaging Het
Serpinb6d A G 13: 33,854,739 (GRCm39) D238G probably benign Het
Sh3rf2 T A 18: 42,234,736 (GRCm39) I173N probably benign Het
Smarcc2 T C 10: 128,305,660 (GRCm39) probably null Het
Thoc2l T C 5: 104,670,070 (GRCm39) S1531P possibly damaging Het
Thsd4 T C 9: 59,904,496 (GRCm39) N567D probably benign Het
Tmprss13 C A 9: 45,239,878 (GRCm39) P62Q unknown Het
Tmprss7 T C 16: 45,501,033 (GRCm39) Q256R probably benign Het
Tssc4 A G 7: 142,623,892 (GRCm39) T67A probably benign Het
Tssk5 G A 15: 76,256,304 (GRCm39) Q372* probably null Het
Usp47 G T 7: 111,673,775 (GRCm39) probably null Het
Utp15 A G 13: 98,389,386 (GRCm39) I304T possibly damaging Het
Vmn1r35 A C 6: 66,655,890 (GRCm39) V93G probably benign Het
Zfhx3 A C 8: 109,675,076 (GRCm39) Q2042P probably benign Het
Zfp532 C A 18: 65,758,061 (GRCm39) R665S probably damaging Het
Zfp976 G T 7: 42,262,023 (GRCm39) P605T possibly damaging Het
Zfpl1 A G 19: 6,132,649 (GRCm39) V125A 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
R1122: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
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 2014-03-14