Incidental Mutation 'IGL01705:Tnfaip1'
| ID |
104563 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnfaip1
|
| Ensembl Gene |
ENSMUSG00000017615 |
| Gene Name |
tumor necrosis factor, alpha-induced protein 1 (endothelial) |
| Synonyms |
Edp-1, Tnfip1, Bacurd2, Edp1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.832)
|
| Stock # |
IGL01705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
78413676-78427122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78416294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 263
(D263G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001127]
[ENSMUST00000017759]
[ENSMUST00000108277]
|
| AlphaFold |
O70479 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001127
|
| SMART Domains |
Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
47 |
N/A |
INTRINSIC |
|
YccV-like
|
74 |
210 |
1.03e-39 |
SMART |
|
Pfam:DUF525
|
252 |
338 |
2.3e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017759
AA Change: D263G
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000017759
Gene: ENSMUSG00000017615
AA Change: D263G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
28 |
128 |
4.8e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108277
AA Change: D263G
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103912
Gene: ENSMUSG00000017615
AA Change: D263G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
28 |
128 |
4.8e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133601
|
| SMART Domains |
Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
| Domain | Start | End | E-Value | Type |
|---|
|
YccV-like
|
40 |
176 |
1.03e-39 |
SMART |
|
Pfam:DUF525
|
218 |
278 |
4.9e-17 |
PFAM |
|
| 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 was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,038 (GRCm39) |
T1077A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,396,515 (GRCm39) |
V2504A |
possibly damaging |
Het |
| Anks3 |
A |
T |
16: 4,765,587 (GRCm39) |
W172R |
probably benign |
Het |
| Asap2 |
T |
A |
12: 21,299,369 (GRCm39) |
N633K |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,331,883 (GRCm39) |
S326C |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,736 (GRCm39) |
K900E |
possibly damaging |
Het |
| Cd5 |
A |
T |
19: 10,703,659 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
T |
A |
13: 25,041,924 (GRCm39) |
N284K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,678,788 (GRCm39) |
A38V |
probably damaging |
Het |
| Eny2 |
C |
A |
15: 44,295,831 (GRCm39) |
|
probably null |
Het |
| Grm5 |
A |
G |
7: 87,779,254 (GRCm39) |
Q930R |
possibly damaging |
Het |
| Igkv4-73 |
A |
T |
6: 69,174,709 (GRCm39) |
|
noncoding transcript |
Het |
| Lama2 |
A |
T |
10: 27,065,270 (GRCm39) |
|
probably benign |
Het |
| Lipg |
A |
G |
18: 75,081,042 (GRCm39) |
|
probably null |
Het |
| Neto2 |
T |
C |
8: 86,367,632 (GRCm39) |
K371E |
probably damaging |
Het |
| Or8g52 |
T |
C |
9: 39,630,877 (GRCm39) |
M118T |
possibly damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,813,876 (GRCm39) |
F834L |
probably benign |
Het |
| Paxip1 |
A |
T |
5: 27,953,857 (GRCm39) |
S946R |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,879 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,308,401 (GRCm39) |
L331P |
probably damaging |
Het |
| Reep1 |
A |
G |
6: 71,750,272 (GRCm39) |
T95A |
probably damaging |
Het |
| Rfx2 |
A |
G |
17: 57,092,303 (GRCm39) |
Y332H |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,688,393 (GRCm39) |
D1288E |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,930,046 (GRCm39) |
M582V |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,332,931 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
T |
G |
7: 107,035,559 (GRCm39) |
L192R |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,473 (GRCm39) |
K478R |
probably benign |
Het |
| Tmem115 |
G |
T |
9: 107,412,403 (GRCm39) |
L242F |
probably benign |
Het |
| Tmt1b |
T |
A |
10: 128,794,731 (GRCm39) |
I198F |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,884 (GRCm39) |
I69F |
probably damaging |
Het |
| Vps52 |
T |
C |
17: 34,185,042 (GRCm39) |
L712P |
probably damaging |
Het |
|
| Other mutations in Tnfaip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Tnfaip1
|
APN |
11 |
78,419,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Tnfaip1
|
UTSW |
11 |
78,420,840 (GRCm39) |
splice site |
probably benign |
|
|
R0883:Tnfaip1
|
UTSW |
11 |
78,420,840 (GRCm39) |
splice site |
probably benign |
|
|
R1526:Tnfaip1
|
UTSW |
11 |
78,420,971 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1997:Tnfaip1
|
UTSW |
11 |
78,420,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Tnfaip1
|
UTSW |
11 |
78,420,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Tnfaip1
|
UTSW |
11 |
78,421,045 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4960:Tnfaip1
|
UTSW |
11 |
78,418,396 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6187:Tnfaip1
|
UTSW |
11 |
78,418,372 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7086:Tnfaip1
|
UTSW |
11 |
78,416,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9085:Tnfaip1
|
UTSW |
11 |
78,420,965 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9469:Tnfaip1
|
UTSW |
11 |
78,419,075 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation