Incidental Mutation 'IGL01980:Tnip2'
| ID |
182711 |
| 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 # |
IGL01980
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34653440-34671323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34654212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 288
(V288A)
|
| 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: V392A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000030991
Gene: ENSMUSG00000059866
AA Change: V392A
| 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: V371A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000085030
Gene: ENSMUSG00000059866
AA Change: V371A
| 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: V288A
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109999
Gene: ENSMUSG00000059866
AA Change: V288A
| 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
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd60 |
C |
T |
2: 173,412,996 (GRCm39) |
C164Y |
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,733,463 (GRCm39) |
A979V |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,421,393 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,658,184 (GRCm39) |
N676S |
probably damaging |
Het |
| Cpa1 |
T |
C |
6: 30,641,581 (GRCm39) |
F192L |
possibly damaging |
Het |
| Entpd6 |
T |
A |
2: 150,604,286 (GRCm39) |
|
probably null |
Het |
| Fam185a |
A |
G |
5: 21,664,171 (GRCm39) |
K302E |
probably damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,337,519 (GRCm39) |
K121E |
probably benign |
Het |
| Impg2 |
G |
A |
16: 56,041,890 (GRCm39) |
C178Y |
probably damaging |
Het |
| Kdm3b |
G |
T |
18: 34,967,289 (GRCm39) |
C1698F |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,740,851 (GRCm39) |
D451G |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,121,540 (GRCm39) |
L52Q |
probably damaging |
Het |
| Mmp9 |
C |
A |
2: 164,792,836 (GRCm39) |
S363R |
probably benign |
Het |
| Mtfmt |
A |
G |
9: 65,344,356 (GRCm39) |
Y94C |
probably benign |
Het |
| Myo7b |
G |
A |
18: 32,094,953 (GRCm39) |
L1881F |
possibly damaging |
Het |
| Or51a10 |
A |
T |
7: 103,699,300 (GRCm39) |
M87K |
probably benign |
Het |
| Or6c6 |
G |
T |
10: 129,187,386 (GRCm39) |
|
probably benign |
Het |
| Pex5 |
T |
C |
6: 124,375,339 (GRCm39) |
N524S |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,319,992 (GRCm39) |
Y206F |
possibly damaging |
Het |
| Polr3e |
A |
G |
7: 120,539,519 (GRCm39) |
|
probably benign |
Het |
| Rhbdd1 |
A |
G |
1: 82,318,555 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
A |
T |
2: 163,707,702 (GRCm39) |
|
probably benign |
Het |
| Smarcal1 |
A |
T |
1: 72,655,679 (GRCm39) |
K653* |
probably null |
Het |
| Stt3b |
C |
T |
9: 115,105,767 (GRCm39) |
|
probably null |
Het |
| Syt8 |
C |
A |
7: 141,993,877 (GRCm39) |
L343M |
probably damaging |
Het |
| Tbc1d23 |
G |
A |
16: 57,009,615 (GRCm39) |
|
probably benign |
Het |
| Tfec |
T |
C |
6: 16,845,465 (GRCm39) |
I65V |
probably damaging |
Het |
| Tmem236 |
A |
T |
2: 14,223,716 (GRCm39) |
Q168H |
probably benign |
Het |
| Tmem25 |
G |
A |
9: 44,709,568 (GRCm39) |
R78* |
probably null |
Het |
| Ttc1 |
G |
A |
11: 43,621,291 (GRCm39) |
|
probably benign |
Het |
| Tubb4b-ps1 |
A |
C |
5: 7,229,843 (GRCm39) |
|
probably benign |
Het |
| Tut1 |
T |
C |
19: 8,931,364 (GRCm39) |
C21R |
probably damaging |
Het |
| Ubr4 |
C |
A |
4: 139,156,913 (GRCm39) |
Q2313K |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,615,966 (GRCm39) |
E119G |
probably damaging |
Het |
| Vmn1r23 |
T |
A |
6: 57,903,475 (GRCm39) |
Q101L |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,678 (GRCm39) |
D188G |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,686,290 (GRCm39) |
E557G |
possibly damaging |
Het |
| Zfp738 |
A |
G |
13: 67,818,096 (GRCm39) |
F632L |
possibly damaging |
Het |
|
| Other mutations in Tnip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Tnip2
|
APN |
5 |
34,656,643 (GRCm39) |
missense |
probably benign |
0.29 |
|
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 |
2014-05-07 |
Incidental Mutation