Incidental Mutation 'IGL03279:Aif1'
| ID |
415537 |
| 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 # |
IGL03279
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35389967-35394977 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 35390523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 76
(K76*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025257]
[ENSMUST00000172693]
[ENSMUST00000173106]
[ENSMUST00000173324]
|
| AlphaFold |
O70200 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025257
AA Change: K76*
|
| SMART Domains |
Protein: ENSMUSP00000025257
Gene: ENSMUSG00000024397
AA Change: K76*
| 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 null
Transcript: ENSMUST00000172693
AA Change: K76*
|
| SMART Domains |
Protein: ENSMUSP00000134214
Gene: ENSMUSG00000024397
AA Change: K76*
| 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 null
Transcript: ENSMUST00000173106
AA Change: K121*
|
| SMART Domains |
Protein: ENSMUSP00000134107
Gene: ENSMUSG00000024397
AA Change: K121*
| 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 null
Transcript: ENSMUST00000173324
AA Change: K76*
|
| SMART Domains |
Protein: ENSMUSP00000133709
Gene: ENSMUSG00000024397
AA Change: K76*
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
A |
11: 119,904,504 (GRCm39) |
D224V |
probably damaging |
Het |
| Abca4 |
C |
A |
3: 121,935,381 (GRCm39) |
N1526K |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,779,253 (GRCm39) |
S1446P |
probably damaging |
Het |
| Cyb5rl |
A |
T |
4: 106,941,325 (GRCm39) |
E250V |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,788,447 (GRCm39) |
|
probably benign |
Het |
| Dppa2 |
A |
G |
16: 48,132,028 (GRCm39) |
T42A |
possibly damaging |
Het |
| Drosha |
C |
T |
15: 12,859,478 (GRCm39) |
P562L |
probably benign |
Het |
| Egfl7 |
C |
A |
2: 26,480,719 (GRCm39) |
H126N |
probably benign |
Het |
| Gm5852 |
T |
C |
3: 93,634,584 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
C |
1: 165,138,098 (GRCm39) |
F228S |
probably damaging |
Het |
| Grid1 |
T |
A |
14: 34,667,722 (GRCm39) |
M83K |
probably damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,548,549 (GRCm39) |
S434P |
unknown |
Het |
| Hao2 |
T |
A |
3: 98,787,712 (GRCm39) |
N239I |
possibly damaging |
Het |
| Hsd17b14 |
A |
T |
7: 45,215,617 (GRCm39) |
I206F |
possibly damaging |
Het |
| Kansl1l |
A |
T |
1: 66,774,825 (GRCm39) |
V667E |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,588,659 (GRCm39) |
D450G |
probably benign |
Het |
| Lmo7 |
C |
A |
14: 102,137,944 (GRCm39) |
A882E |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 99,949,893 (GRCm39) |
Y254C |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,152,904 (GRCm39) |
Y408C |
probably damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,933,834 (GRCm39) |
Y160H |
probably damaging |
Het |
| Pnma5 |
G |
A |
X: 72,079,605 (GRCm39) |
T359I |
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,476,937 (GRCm39) |
H440Q |
possibly damaging |
Het |
| Rbx1 |
A |
G |
15: 81,352,399 (GRCm39) |
N41S |
probably damaging |
Het |
| Rpl3 |
G |
A |
15: 79,962,560 (GRCm39) |
T340I |
probably benign |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Sema6a |
A |
T |
18: 47,433,157 (GRCm39) |
C91* |
probably null |
Het |
| Slco6d1 |
T |
A |
1: 98,394,405 (GRCm39) |
V363E |
probably damaging |
Het |
| Stk38 |
A |
G |
17: 29,203,179 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
G |
A |
11: 105,803,918 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
G |
17: 84,742,988 (GRCm39) |
F812S |
probably benign |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,630 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
| Vps52 |
T |
A |
17: 34,176,848 (GRCm39) |
D67E |
probably 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 |
|
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 |
2016-08-02 |
Incidental Mutation