Incidental Mutation 'IGL01717:Aif1'
ID 104980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aif1
Ensembl Gene ENSMUSG00000024397
Gene Name allograft inflammatory factor 1
Synonyms D17H6S50E, Iba1, G1
Accession Numbers

Genbank: NM_019467; MGI: 1343098

Is this an essential gene? Probably non essential (E-score: 0.228) question?
Stock # IGL01717
Quality Score
Status
Chromosome 17
Chromosomal Location 35170991-35176068 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35171555 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 73 (M73K)
Ref Sequence ENSEMBL: ENSMUSP00000133709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025257] [ENSMUST00000172693] [ENSMUST00000173106] [ENSMUST00000173324]
AlphaFold O70200
Predicted Effect probably damaging
Transcript: ENSMUST00000025257
AA Change: M73K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025257
Gene: ENSMUSG00000024397
AA Change: M73K

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 damaging
Transcript: ENSMUST00000172693
AA Change: M73K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134214
Gene: ENSMUSG00000024397
AA Change: M73K

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 damaging
Transcript: ENSMUST00000173106
AA Change: M118K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134107
Gene: ENSMUSG00000024397
AA Change: M118K

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 damaging
Transcript: ENSMUST00000173324
AA Change: M73K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133709
Gene: ENSMUSG00000024397
AA Change: M73K

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,736 S4112G probably benign Het
Alk T C 17: 72,603,382 I110V probably benign Het
Aoah T C 13: 20,999,977 S404P probably damaging Het
Bhlhe41 A G 6: 145,863,037 S350P possibly damaging Het
Capn12 A G 7: 28,889,105 D540G probably benign Het
Chd6 A G 2: 160,965,259 Y2012H possibly damaging Het
Col1a1 A G 11: 94,950,777 T1284A unknown Het
Col24a1 T C 3: 145,524,263 probably benign Het
Col4a5 T A X: 141,639,238 V1070D unknown Het
Col6a5 T C 9: 105,940,273 T280A unknown Het
Dicer1 A T 12: 104,702,787 L1212* probably null Het
Gigyf1 T A 5: 137,525,691 V1041E probably damaging Het
Gm4978 C T 9: 69,450,873 probably benign Het
Gnai1 A G 5: 18,291,461 probably null Het
Golgb1 C T 16: 36,915,502 R1704* probably null Het
Incenp A G 19: 9,893,265 probably benign Het
Lrrc39 A T 3: 116,579,497 probably benign Het
Man2a2 T C 7: 80,367,365 K319E probably damaging Het
Neb T C 2: 52,189,867 D83G probably damaging Het
Osbpl6 T C 2: 76,588,594 I732T probably damaging Het
Pacs1 T A 19: 5,167,972 K130N probably damaging Het
Pappa2 A G 1: 158,857,132 probably null Het
Pole2 T C 12: 69,213,849 M186V probably damaging Het
Rwdd4a T C 8: 47,544,105 probably benign Het
Sel1l3 A G 5: 53,200,168 Y161H probably damaging Het
Sf3a2 C T 10: 80,804,692 Q446* probably null Het
Slc26a3 T C 12: 31,463,477 I466T probably benign Het
Slc29a4 A T 5: 142,718,746 I348F probably damaging Het
Tbl1xr1 A G 3: 22,193,171 probably benign Het
Tlr5 A T 1: 182,975,398 I756F probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Other mutations in Aif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03279:Aif1 APN 17 35171547 nonsense probably null
N/A:Aif1 UTSW 17 35172520 missense possibly damaging 0.83
R0396:Aif1 UTSW 17 35171109 makesense probably null
R1062:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1063:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1064:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1105:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1122:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1154:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1286:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1447:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1678:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1689:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1750:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1911:Aif1 UTSW 17 35172151 missense probably benign 0.01
R1974:Aif1 UTSW 17 35172151 missense probably benign 0.01
R2314:Aif1 UTSW 17 35172151 missense probably benign 0.01
R2338:Aif1 UTSW 17 35172151 missense probably benign 0.01
R2341:Aif1 UTSW 17 35172151 missense probably benign 0.01
R2915:Aif1 UTSW 17 35172151 missense probably benign 0.01
R4953:Aif1 UTSW 17 35171098 splice site probably null
R5260:Aif1 UTSW 17 35171941 critical splice acceptor site probably null
R6786:Aif1 UTSW 17 35171496 missense probably damaging 1.00
R7503:Aif1 UTSW 17 35171573 missense probably damaging 1.00
R7534:Aif1 UTSW 17 35171414 missense possibly damaging 0.77
R7891:Aif1 UTSW 17 35172624 start gained probably benign
R8075:Aif1 UTSW 17 35171835 missense unknown
Y4338:Aif1 UTSW 17 35172151 missense probably benign 0.01
Posted On 2014-01-21