Incidental Mutation 'IGL03093:Tnip1'
| ID |
418468 |
| 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 # |
IGL03093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
54801611-54853743 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 54831652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 7
(Y7*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018482]
[ENSMUST00000102730]
[ENSMUST00000102731]
[ENSMUST00000108885]
[ENSMUST00000108886]
[ENSMUST00000108889]
[ENSMUST00000155316]
[ENSMUST00000126703]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018482
AA Change: Y7*
|
| SMART Domains |
Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400
AA Change: Y7*
| 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: ENSMUST00000102730
AA Change: Y7*
|
| SMART Domains |
Protein: ENSMUSP00000099791
Gene: ENSMUSG00000020400
AA Change: Y7*
| 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: Y7*
|
| SMART Domains |
Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400
AA Change: Y7*
| 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: ENSMUST00000108885
|
| SMART Domains |
Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400
| 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 benign
Transcript: ENSMUST00000108886
|
| SMART Domains |
Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400
| 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: Y7*
|
| SMART Domains |
Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400
AA Change: Y7*
| 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 null
Transcript: ENSMUST00000155316
AA Change: Y7*
|
| SMART Domains |
Protein: ENSMUSP00000116721
Gene: ENSMUSG00000020400
AA Change: Y7*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
42 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126703
|
| SMART Domains |
Protein: ENSMUSP00000122836
Gene: ENSMUSG00000020400
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
A |
G |
19: 53,219,638 (GRCm39) |
D121G |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,043,802 (GRCm39) |
D1380G |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,453,262 (GRCm39) |
Y487C |
probably damaging |
Het |
| Coro2a |
A |
G |
4: 46,544,158 (GRCm39) |
S278P |
possibly damaging |
Het |
| Creb3l3 |
A |
G |
10: 80,927,047 (GRCm39) |
S128P |
probably benign |
Het |
| Dab2 |
A |
G |
15: 6,465,892 (GRCm39) |
R697G |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,823,399 (GRCm39) |
F811S |
probably benign |
Het |
| Fam170b |
A |
G |
14: 32,557,482 (GRCm39) |
S106G |
probably damaging |
Het |
| Galk2 |
T |
C |
2: 125,771,563 (GRCm39) |
L196P |
probably damaging |
Het |
| Gan |
T |
C |
8: 117,910,314 (GRCm39) |
M81T |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,068,511 (GRCm39) |
T197A |
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,504 (GRCm39) |
M244K |
probably benign |
Het |
| Htr6 |
A |
G |
4: 138,789,080 (GRCm39) |
F325S |
probably damaging |
Het |
| Igkv9-120 |
A |
G |
6: 68,027,398 (GRCm39) |
D104G |
probably damaging |
Het |
| Itpr2 |
A |
C |
6: 146,281,008 (GRCm39) |
I216S |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,526,748 (GRCm39) |
I614V |
possibly damaging |
Het |
| Mep1b |
C |
T |
18: 21,226,710 (GRCm39) |
T524M |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,480,702 (GRCm39) |
|
probably benign |
Het |
| Mylk |
G |
A |
16: 34,732,562 (GRCm39) |
R614H |
possibly damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,410 (GRCm39) |
T205A |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,007,446 (GRCm39) |
|
probably benign |
Het |
| Pabpc4 |
G |
A |
4: 123,180,502 (GRCm39) |
D75N |
probably damaging |
Het |
| Paics |
T |
A |
5: 77,109,355 (GRCm39) |
|
probably null |
Het |
| Prl |
T |
A |
13: 27,248,870 (GRCm39) |
I172N |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,152,056 (GRCm39) |
S168P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,865 (GRCm39) |
V225A |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,110,430 (GRCm39) |
I86V |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,309,407 (GRCm39) |
Y306C |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,066,078 (GRCm39) |
L250Q |
probably damaging |
Het |
| Tex38 |
A |
G |
4: 115,637,762 (GRCm39) |
S14P |
probably damaging |
Het |
| Tm2d1 |
A |
T |
4: 98,268,921 (GRCm39) |
C59S |
possibly damaging |
Het |
| Tmco1 |
A |
G |
1: 167,143,848 (GRCm39) |
D82G |
probably damaging |
Het |
| Tmem245 |
G |
A |
4: 56,886,019 (GRCm39) |
R866W |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,189,330 (GRCm39) |
M48T |
probably benign |
Het |
| Tslp |
T |
C |
18: 32,948,612 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
T |
C |
7: 111,688,827 (GRCm39) |
F745L |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,334,791 (GRCm39) |
T290S |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,718,472 (GRCm39) |
D30G |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,094,073 (GRCm39) |
Y247C |
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 |
|
|
IGL02045:Tnip1
|
APN |
11 |
54,802,365 (GRCm39) |
makesense |
probably null |
|
|
IGL02227:Tnip1
|
APN |
11 |
54,827,297 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
2016-08-02 |
Incidental Mutation