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)
|
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
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 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
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 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
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 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
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 |
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |