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 |
G1, D17H6S50E, Iba1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
IGL01717
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
35389967-35394977 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35390531 bp (GRCm39)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alk |
T |
C |
17: 72,910,377 (GRCm39) |
I110V |
probably benign |
Het |
Aoah |
T |
C |
13: 21,184,147 (GRCm39) |
S404P |
probably damaging |
Het |
Bhlhe41 |
A |
G |
6: 145,808,763 (GRCm39) |
S350P |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,088,885 (GRCm39) |
S4112G |
probably benign |
Het |
Capn12 |
A |
G |
7: 28,588,530 (GRCm39) |
D540G |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,807,179 (GRCm39) |
Y2012H |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,841,603 (GRCm39) |
T1284A |
unknown |
Het |
Col24a1 |
T |
C |
3: 145,230,018 (GRCm39) |
|
probably benign |
Het |
Col4a5 |
T |
A |
X: 140,422,234 (GRCm39) |
V1070D |
unknown |
Het |
Col6a5 |
T |
C |
9: 105,817,472 (GRCm39) |
T280A |
unknown |
Het |
Dicer1 |
A |
T |
12: 104,669,046 (GRCm39) |
L1212* |
probably null |
Het |
Gigyf1 |
T |
A |
5: 137,523,953 (GRCm39) |
V1041E |
probably damaging |
Het |
Gm4978 |
C |
T |
9: 69,358,155 (GRCm39) |
|
probably benign |
Het |
Gnai1 |
A |
G |
5: 18,496,459 (GRCm39) |
|
probably null |
Het |
Golgb1 |
C |
T |
16: 36,735,864 (GRCm39) |
R1704* |
probably null |
Het |
Incenp |
A |
G |
19: 9,870,629 (GRCm39) |
|
probably benign |
Het |
Lrrc39 |
A |
T |
3: 116,373,146 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,017,113 (GRCm39) |
K319E |
probably damaging |
Het |
Neb |
T |
C |
2: 52,079,879 (GRCm39) |
D83G |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,418,938 (GRCm39) |
I732T |
probably damaging |
Het |
Pacs1 |
T |
A |
19: 5,218,000 (GRCm39) |
K130N |
probably damaging |
Het |
Pappa2 |
A |
G |
1: 158,684,702 (GRCm39) |
|
probably null |
Het |
Pole2 |
T |
C |
12: 69,260,623 (GRCm39) |
M186V |
probably damaging |
Het |
Rwdd4a |
T |
C |
8: 47,997,140 (GRCm39) |
|
probably benign |
Het |
Sel1l3 |
A |
G |
5: 53,357,510 (GRCm39) |
Y161H |
probably damaging |
Het |
Sf3a2 |
C |
T |
10: 80,640,526 (GRCm39) |
Q446* |
probably null |
Het |
Slc26a3 |
T |
C |
12: 31,513,476 (GRCm39) |
I466T |
probably benign |
Het |
Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
Tbl1xr1 |
A |
G |
3: 22,247,335 (GRCm39) |
|
probably benign |
Het |
Tlr5 |
A |
T |
1: 182,802,963 (GRCm39) |
I756F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
|
Other mutations in Aif1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-01-21 |