Incidental Mutation 'R8075:Aif1'
| ID |
628992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aif1
|
| Ensembl Gene |
ENSMUSG00000024397 |
| Gene Name |
allograft inflammatory factor 1 |
| Synonyms |
G1, D17H6S50E, Iba1 |
| MMRRC Submission |
067509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R8075 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35389967-35394977 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35390811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 87
(N87Y)
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000025257
Gene: ENSMUSG00000024397
| 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: ENSMUST00000172693
|
| SMART Domains |
Protein: ENSMUSP00000134214
Gene: ENSMUSG00000024397
| 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 |
unknown
Transcript: ENSMUST00000173106
AA Change: N87Y
|
| SMART Domains |
Protein: ENSMUSP00000134107
Gene: ENSMUSG00000024397
AA Change: N87Y
| 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 |
probably benign
Transcript: ENSMUST00000173324
|
| SMART Domains |
Protein: ENSMUSP00000133709
Gene: ENSMUSG00000024397
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
T |
5: 121,790,148 (GRCm39) |
H69Q |
probably benign |
Het |
| Caprin2 |
A |
T |
6: 148,770,590 (GRCm39) |
V468E |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,189,335 (GRCm39) |
V559D |
probably benign |
Het |
| Chrna4 |
A |
C |
2: 180,680,859 (GRCm39) |
I3S |
unknown |
Het |
| Cog3 |
T |
C |
14: 75,968,142 (GRCm39) |
Y407C |
probably damaging |
Het |
| Col15a1 |
A |
G |
4: 47,208,359 (GRCm39) |
H3R |
probably benign |
Het |
| Ctxn1 |
A |
G |
8: 4,308,553 (GRCm39) |
V26A |
probably benign |
Het |
| Cyp27b1 |
A |
C |
10: 126,887,382 (GRCm39) |
T405P |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,682 (GRCm39) |
I181V |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,100,810 (GRCm39) |
S269T |
possibly damaging |
Het |
| Efcab6 |
A |
T |
15: 83,851,824 (GRCm39) |
D351E |
probably damaging |
Het |
| Fam181a |
A |
T |
12: 103,282,296 (GRCm39) |
H67L |
possibly damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,871,861 (GRCm39) |
L458P |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,913,048 (GRCm38) |
I1439T |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,815,055 (GRCm39) |
Q364* |
probably null |
Het |
| Gm3138 |
A |
T |
14: 4,250,532 (GRCm38) |
N55Y |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,403 (GRCm39) |
T1802A |
possibly damaging |
Het |
| Hoxc6 |
T |
C |
15: 102,919,325 (GRCm39) |
I187T |
probably damaging |
Het |
| Ighg3 |
T |
A |
12: 113,321,097 (GRCm39) |
I387F |
|
Het |
| Insr |
A |
T |
8: 3,205,862 (GRCm39) |
M1309K |
probably benign |
Het |
| Itsn1 |
A |
T |
16: 91,686,097 (GRCm39) |
N1290I |
unknown |
Het |
| Jag2 |
C |
A |
12: 112,878,894 (GRCm39) |
R509L |
probably benign |
Het |
| Kctd11 |
T |
A |
11: 69,771,095 (GRCm39) |
|
probably benign |
Het |
| Med13 |
C |
A |
11: 86,163,296 (GRCm39) |
V2126F |
probably damaging |
Het |
| Mknk2 |
G |
A |
10: 80,507,982 (GRCm39) |
|
probably benign |
Het |
| Oga |
A |
T |
19: 45,749,621 (GRCm39) |
N699K |
probably damaging |
Het |
| Or52l1 |
T |
G |
7: 104,830,343 (GRCm39) |
H74P |
probably damaging |
Het |
| Or5m13b |
A |
G |
2: 85,754,470 (GRCm39) |
N286S |
probably benign |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,605 (GRCm39) |
V337A |
probably damaging |
Het |
| Pik3c3 |
A |
G |
18: 30,438,082 (GRCm39) |
N491D |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,257,274 (GRCm39) |
S96T |
unknown |
Het |
| Rab37 |
G |
T |
11: 114,982,759 (GRCm39) |
|
probably null |
Het |
| Rp9 |
G |
A |
9: 22,368,788 (GRCm39) |
T57M |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,851,713 (GRCm39) |
V1274A |
probably damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,298,519 (GRCm39) |
V57M |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc39a14 |
A |
T |
14: 70,546,247 (GRCm39) |
I392N |
possibly damaging |
Het |
| Sowahb |
G |
A |
5: 93,192,276 (GRCm39) |
Q148* |
probably null |
Het |
| Spon1 |
T |
C |
7: 113,616,026 (GRCm39) |
|
probably null |
Het |
| Susd4 |
C |
A |
1: 182,592,748 (GRCm39) |
T48K |
possibly damaging |
Het |
| Taf4b |
T |
C |
18: 14,916,749 (GRCm39) |
V33A |
possibly damaging |
Het |
| Tas2r139 |
T |
A |
6: 42,118,154 (GRCm39) |
N95K |
probably benign |
Het |
| Tle3 |
T |
C |
9: 61,281,841 (GRCm39) |
M57T |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,985,852 (GRCm39) |
M815K |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,340,644 (GRCm39) |
D796G |
probably damaging |
Het |
| Wnk1 |
C |
T |
6: 119,909,675 (GRCm39) |
G41S |
probably damaging |
Het |
| Zfp867 |
A |
G |
11: 59,355,066 (GRCm39) |
S88P |
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 |
|
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 |
|
|
Y4338:Aif1
|
UTSW |
17 |
35,391,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATCTTGAACCTCCACG -3'
(R):5'- GATCAAGGCCAGCTGACTGTTG -3'
Sequencing Primer
(F):5'- CGCCGCCCATGTATTATTGG -3'
(R):5'- CCAGCTGACTGTTGTGGAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation