Incidental Mutation 'IGL00754:Tnip2'
| ID |
14527 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnip2
|
| Ensembl Gene |
ENSMUSG00000059866 |
| Gene Name |
TNFAIP3 interacting protein 2 |
| Synonyms |
ABIN-2, 1810020H16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
IGL00754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34653440-34671323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34656643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 221
(I221V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030991]
[ENSMUST00000087737]
[ENSMUST00000114359]
|
| AlphaFold |
Q99JG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030991
AA Change: I325V
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: I325V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
30 |
123 |
N/A |
INTRINSIC |
|
Pfam:EABR
|
236 |
269 |
7.2e-21 |
PFAM |
|
Pfam:CC2-LZ
|
264 |
364 |
5.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087737
AA Change: I304V
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: I304V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
30 |
123 |
N/A |
INTRINSIC |
|
Pfam:EABR
|
215 |
249 |
4.9e-23 |
PFAM |
|
coiled coil region
|
256 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114359
AA Change: I221V
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: I221V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
30 |
123 |
N/A |
INTRINSIC |
|
coiled coil region
|
225 |
258 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159102
|
| 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 which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele have impaired IL-1 response and macrophage physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
A |
10: 20,848,040 (GRCm39) |
G483R |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,150,968 (GRCm39) |
I816V |
probably damaging |
Het |
| Aprt |
T |
C |
8: 123,302,232 (GRCm39) |
Q77R |
probably benign |
Het |
| Bcas3 |
T |
A |
11: 85,386,649 (GRCm39) |
|
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,641,036 (GRCm39) |
M697V |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Chrnd |
A |
C |
1: 87,123,506 (GRCm39) |
E348A |
probably benign |
Het |
| Ctnnbl1 |
A |
T |
2: 157,661,461 (GRCm39) |
S324C |
possibly damaging |
Het |
| Dgkb |
C |
A |
12: 38,488,567 (GRCm39) |
N644K |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,051,697 (GRCm39) |
L1720* |
probably null |
Het |
| Ehbp1 |
A |
G |
11: 22,197,967 (GRCm39) |
|
probably benign |
Het |
| Eif1b |
G |
T |
9: 120,323,686 (GRCm39) |
C94F |
probably benign |
Het |
| Fmnl3 |
G |
A |
15: 99,220,551 (GRCm39) |
T577I |
probably damaging |
Het |
| Gm28042 |
G |
A |
2: 119,860,837 (GRCm39) |
G96R |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,031,026 (GRCm39) |
V86A |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,618,389 (GRCm39) |
S131R |
probably damaging |
Het |
| Mboat4 |
A |
G |
8: 34,591,708 (GRCm39) |
T382A |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,645,069 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,659,741 (GRCm39) |
D1627G |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,092,221 (GRCm39) |
F406I |
possibly damaging |
Het |
| Ppara |
T |
C |
15: 85,661,843 (GRCm39) |
L28S |
probably damaging |
Het |
| Samd3 |
A |
G |
10: 26,120,425 (GRCm39) |
T140A |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,026,645 (GRCm39) |
F1255L |
probably damaging |
Het |
| Stard6 |
T |
A |
18: 70,616,559 (GRCm39) |
S73T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,612,429 (GRCm39) |
I8859T |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,553,348 (GRCm39) |
S907P |
possibly damaging |
Het |
| Utp25 |
G |
T |
1: 192,797,309 (GRCm39) |
N514K |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,539,236 (GRCm39) |
V1927A |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,070,931 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tnip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01980:Tnip2
|
APN |
5 |
34,654,212 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02649:Tnip2
|
APN |
5 |
34,671,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03122:Tnip2
|
APN |
5 |
34,661,095 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4445001:Tnip2
|
UTSW |
5 |
34,654,215 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1713:Tnip2
|
UTSW |
5 |
34,661,175 (GRCm39) |
splice site |
probably benign |
|
|
R1782:Tnip2
|
UTSW |
5 |
34,657,012 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2183:Tnip2
|
UTSW |
5 |
34,656,957 (GRCm39) |
intron |
probably benign |
|
|
R2184:Tnip2
|
UTSW |
5 |
34,656,957 (GRCm39) |
intron |
probably benign |
|
|
R4417:Tnip2
|
UTSW |
5 |
34,660,925 (GRCm39) |
nonsense |
probably null |
|
|
R5216:Tnip2
|
UTSW |
5 |
34,661,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5254:Tnip2
|
UTSW |
5 |
34,660,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5287:Tnip2
|
UTSW |
5 |
34,671,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Tnip2
|
UTSW |
5 |
34,671,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Tnip2
|
UTSW |
5 |
34,653,976 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6355:Tnip2
|
UTSW |
5 |
34,656,541 (GRCm39) |
nonsense |
probably null |
|
|
R6379:Tnip2
|
UTSW |
5 |
34,660,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7389:Tnip2
|
UTSW |
5 |
34,671,145 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8224:Tnip2
|
UTSW |
5 |
34,671,003 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9034:Tnip2
|
UTSW |
5 |
34,671,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Tnip2
|
UTSW |
5 |
34,654,212 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2012-12-06 |
Incidental Mutation