Incidental Mutation 'IGL02045:Tnip1'
| ID |
184916 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnip1
|
| Ensembl Gene |
ENSMUSG00000020400 |
| Gene Name |
TNFAIP3 interacting protein 1 |
| Synonyms |
ABIN1, VAN, Nef, A20-binding inhibitor of NF-kappa B activation |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02045
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
54801611-54853743 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to C
at 54802365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glycine
at position 648
(*648G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018482]
[ENSMUST00000082430]
[ENSMUST00000102730]
[ENSMUST00000102731]
[ENSMUST00000108885]
[ENSMUST00000108886]
[ENSMUST00000108889]
[ENSMUST00000125094]
[ENSMUST00000149324]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018482
AA Change: *648G
|
| SMART Domains |
Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400
AA Change: *648G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
42 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
coiled coil region
|
215 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
296 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
342 |
511 |
2e-4 |
SMART |
|
low complexity region
|
519 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082430
|
| SMART Domains |
Protein: ENSMUSP00000081011
Gene: ENSMUSG00000018339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:GSHPx
|
40 |
153 |
4.8e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102730
|
| SMART Domains |
Protein: ENSMUSP00000099791
Gene: ENSMUSG00000020400
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
42 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
coiled coil region
|
215 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
296 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
342 |
511 |
3e-4 |
SMART |
|
low complexity region
|
519 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
640 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102731
AA Change: *648G
|
| SMART Domains |
Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400
AA Change: *648G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
42 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
coiled coil region
|
215 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
296 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
342 |
511 |
2e-4 |
SMART |
|
low complexity region
|
519 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108885
AA Change: *595G
|
| SMART Domains |
Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400
AA Change: *595G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
coiled coil region
|
162 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
289 |
458 |
5e-4 |
SMART |
|
low complexity region
|
466 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108886
AA Change: *595G
|
| SMART Domains |
Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400
AA Change: *595G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
coiled coil region
|
162 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
289 |
458 |
5e-4 |
SMART |
|
low complexity region
|
466 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108889
AA Change: *648G
|
| SMART Domains |
Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400
AA Change: *648G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
42 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
coiled coil region
|
215 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
296 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
342 |
511 |
2e-4 |
SMART |
|
low complexity region
|
519 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124304
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125094
|
| SMART Domains |
Protein: ENSMUSP00000119165
Gene: ENSMUSG00000018339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:GSHPx
|
40 |
153 |
1.6e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149324
|
| SMART Domains |
Protein: ENSMUSP00000119882
Gene: ENSMUSG00000018339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:GSHPx
|
40 |
83 |
1e-13 |
PFAM |
|
Pfam:GSHPx
|
99 |
185 |
7.3e-28 |
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 encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit perinatal lethality associated with anemia and focal apoptosis in the fetal liver. Mice homozygous for a gene trap allele exhibit partial prenatal lethality and SLE-like inflammatory disease. [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 |
|---|
| Acacb |
C |
A |
5: 114,378,721 (GRCm39) |
H2044Q |
possibly damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,293,244 (GRCm39) |
S730T |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,682,382 (GRCm39) |
N655K |
probably benign |
Het |
| Ap1ar |
A |
T |
3: 127,609,298 (GRCm39) |
Y108N |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,954,752 (GRCm39) |
I55V |
probably benign |
Het |
| Barx2 |
T |
C |
9: 31,770,094 (GRCm39) |
T145A |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,158,442 (GRCm39) |
|
probably null |
Het |
| Ces2e |
C |
T |
8: 105,657,290 (GRCm39) |
|
probably benign |
Het |
| Cflar |
T |
C |
1: 58,791,903 (GRCm39) |
I405T |
probably benign |
Het |
| Cibar2 |
T |
A |
8: 120,896,461 (GRCm39) |
K174* |
probably null |
Het |
| Cyp51 |
A |
G |
5: 4,133,247 (GRCm39) |
S464P |
probably damaging |
Het |
| Ermard |
G |
A |
17: 15,271,826 (GRCm39) |
|
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,707,841 (GRCm39) |
T49A |
probably benign |
Het |
| Gls |
A |
G |
1: 52,258,674 (GRCm39) |
V198A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,115,855 (GRCm39) |
I867N |
probably damaging |
Het |
| Ighv1-14 |
A |
T |
12: 114,610,334 (GRCm39) |
|
noncoding transcript |
Het |
| Iqsec1 |
T |
C |
6: 90,641,051 (GRCm39) |
K1022E |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,726,574 (GRCm39) |
T299A |
probably benign |
Het |
| Nr2e3 |
A |
T |
9: 59,856,291 (GRCm39) |
M82K |
probably benign |
Het |
| Ntpcr |
A |
G |
8: 126,472,191 (GRCm39) |
|
probably benign |
Het |
| Or1e26 |
A |
G |
11: 73,480,058 (GRCm39) |
C169R |
probably damaging |
Het |
| Or4d10b |
T |
C |
19: 12,036,253 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or52s6 |
A |
G |
7: 103,092,159 (GRCm39) |
L57P |
probably damaging |
Het |
| Or5p80 |
A |
G |
7: 108,229,739 (GRCm39) |
D180G |
probably damaging |
Het |
| Or6c70 |
A |
T |
10: 129,710,091 (GRCm39) |
D178E |
probably benign |
Het |
| Prkcb |
A |
G |
7: 122,189,390 (GRCm39) |
D506G |
probably damaging |
Het |
| Rasgef1a |
A |
G |
6: 118,066,404 (GRCm39) |
I470V |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,452,978 (GRCm39) |
E514G |
possibly damaging |
Het |
| Rgs22 |
G |
A |
15: 36,013,300 (GRCm39) |
A1048V |
probably benign |
Het |
| Secisbp2l |
A |
G |
2: 125,617,498 (GRCm39) |
F60L |
possibly damaging |
Het |
| Six4 |
T |
C |
12: 73,155,429 (GRCm39) |
S505G |
probably benign |
Het |
| Skint1 |
T |
A |
4: 111,882,727 (GRCm39) |
V257E |
possibly damaging |
Het |
| Smad9 |
A |
G |
3: 54,693,593 (GRCm39) |
N174S |
possibly damaging |
Het |
| Smc2 |
A |
G |
4: 52,462,914 (GRCm39) |
N635D |
probably benign |
Het |
| Stradb |
T |
A |
1: 59,028,937 (GRCm39) |
I135N |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,497,762 (GRCm39) |
T407A |
probably damaging |
Het |
| Tmc8 |
T |
A |
11: 117,677,346 (GRCm39) |
I322N |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,210,540 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tnip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Tnip1
|
APN |
11 |
54,831,643 (GRCm39) |
nonsense |
probably null |
|
|
IGL02227:Tnip1
|
APN |
11 |
54,827,297 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03093:Tnip1
|
APN |
11 |
54,831,652 (GRCm39) |
nonsense |
probably null |
|
|
trinity
|
UTSW |
11 |
54,830,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0480:Tnip1
|
UTSW |
11 |
54,828,820 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0511:Tnip1
|
UTSW |
11 |
54,808,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2974:Tnip1
|
UTSW |
11 |
54,824,809 (GRCm39) |
unclassified |
probably benign |
|
|
R4059:Tnip1
|
UTSW |
11 |
54,802,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4475:Tnip1
|
UTSW |
11 |
54,830,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4509:Tnip1
|
UTSW |
11 |
54,817,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4510:Tnip1
|
UTSW |
11 |
54,817,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4511:Tnip1
|
UTSW |
11 |
54,817,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4702:Tnip1
|
UTSW |
11 |
54,815,228 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4784:Tnip1
|
UTSW |
11 |
54,806,365 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5008:Tnip1
|
UTSW |
11 |
54,828,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5461:Tnip1
|
UTSW |
11 |
54,801,625 (GRCm39) |
unclassified |
probably benign |
|
|
R6050:Tnip1
|
UTSW |
11 |
54,808,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Tnip1
|
UTSW |
11 |
54,809,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7198:Tnip1
|
UTSW |
11 |
54,808,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7730:Tnip1
|
UTSW |
11 |
54,828,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8503:Tnip1
|
UTSW |
11 |
54,827,291 (GRCm39) |
missense |
probably benign |
|
|
R9273:Tnip1
|
UTSW |
11 |
54,807,783 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9680:Tnip1
|
UTSW |
11 |
54,828,876 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2014-05-07 |
Incidental Mutation