Incidental Mutation 'R2341:Aif1'
| ID |
246767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aif1
|
| Ensembl Gene |
ENSMUSG00000024397 |
| Gene Name |
allograft inflammatory factor 1 |
| Synonyms |
G1, D17H6S50E, Iba1 |
| MMRRC Submission |
040327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R2341 (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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (36/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,888,212 (GRCm39) |
V76A |
possibly damaging |
Het |
| Anapc4 |
T |
C |
5: 52,999,279 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
A |
G |
6: 86,720,135 (GRCm39) |
S144P |
probably benign |
Het |
| Bcr |
A |
G |
10: 74,966,944 (GRCm39) |
E517G |
probably damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,751,349 (GRCm39) |
E907G |
probably benign |
Het |
| Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
| Dock6 |
A |
G |
9: 21,750,782 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,177,757 (GRCm39) |
K2031E |
probably damaging |
Het |
| Gm5444 |
T |
C |
13: 4,884,344 (GRCm39) |
|
noncoding transcript |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Ifna16 |
A |
G |
4: 88,594,565 (GRCm39) |
S177P |
probably damaging |
Het |
| Ino80d |
T |
C |
1: 63,104,985 (GRCm39) |
N364D |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,855,937 (GRCm39) |
T769A |
probably benign |
Het |
| Ms4a20 |
T |
A |
19: 11,083,157 (GRCm39) |
M88L |
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,861,588 (GRCm39) |
V1350A |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,469,987 (GRCm39) |
S389P |
probably damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,218,084 (GRCm39) |
I12F |
probably benign |
Het |
| Or4c11b |
A |
G |
2: 88,624,989 (GRCm39) |
N88D |
probably benign |
Het |
| Or8h8 |
T |
C |
2: 86,752,982 (GRCm39) |
K298R |
possibly damaging |
Het |
| Pole |
A |
T |
5: 110,478,829 (GRCm39) |
I28F |
possibly damaging |
Het |
| Prkce |
C |
A |
17: 86,781,870 (GRCm39) |
P180T |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,909 (GRCm39) |
H1995R |
possibly damaging |
Het |
| Rnf144b |
A |
G |
13: 47,373,976 (GRCm39) |
K58E |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,622,851 (GRCm39) |
R651G |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,845,606 (GRCm39) |
L580F |
possibly damaging |
Het |
| Scn4b |
G |
A |
9: 45,059,127 (GRCm39) |
V133M |
probably damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,077,060 (GRCm39) |
N904S |
probably damaging |
Het |
| Sun5 |
A |
G |
2: 153,709,422 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
T |
C |
11: 105,725,877 (GRCm39) |
V347A |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,937,957 (GRCm39) |
Y197C |
probably damaging |
Het |
| Usp30 |
C |
T |
5: 114,249,241 (GRCm39) |
R182* |
probably null |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Vps35 |
T |
C |
8: 86,001,443 (GRCm39) |
|
probably benign |
Het |
| Xkr7 |
G |
A |
2: 152,896,318 (GRCm39) |
V391M |
possibly damaging |
Het |
| Ythdf3 |
A |
T |
3: 16,257,379 (GRCm39) |
|
probably benign |
Het |
| Zfp110 |
T |
C |
7: 12,583,113 (GRCm39) |
V587A |
probably benign |
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 |
|
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 |
|
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'- AGTTGGTGGCTGAGCAATGC -3'
(R):5'- GCTTTTGGACTGCTGAAGGC -3'
Sequencing Primer
(F):5'- CTGAGCAATGCCAGGGTAG -3'
(R):5'- CTGAAGGCCCAGCAGGAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation