Incidental Mutation 'R2974:Tnip1'
ID |
255325 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnip1
|
Ensembl Gene |
ENSMUSG00000020400 |
Gene Name |
TNFAIP3 interacting protein 1 |
Synonyms |
ABIN1, VAN, Nef, A20-binding inhibitor of NF-kappa B activation |
MMRRC Submission |
040527-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2974 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
54801611-54853743 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 54824809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018482]
[ENSMUST00000102730]
[ENSMUST00000102731]
[ENSMUST00000108885]
[ENSMUST00000108886]
[ENSMUST00000108889]
[ENSMUST00000126703]
[ENSMUST00000155316]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018482
|
SMART Domains |
Protein: ENSMUSP00000018482 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 |
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: 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 benign
Transcript: ENSMUST00000102731
|
SMART Domains |
Protein: ENSMUSP00000099792 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 |
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 benign
Transcript: ENSMUST00000108889
|
SMART Domains |
Protein: ENSMUSP00000104517 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 |
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155316
|
SMART Domains |
Protein: ENSMUSP00000116721 Gene: ENSMUSG00000020400
Domain | Start | End | E-Value | Type |
coiled coil region
|
42 |
71 |
N/A |
INTRINSIC |
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
97% (38/39) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
Cop1 |
A |
G |
1: 159,152,499 (GRCm39) |
H583R |
possibly damaging |
Het |
Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
Ctu1 |
A |
G |
7: 43,325,074 (GRCm39) |
|
probably benign |
Het |
D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,091,361 (GRCm39) |
|
probably null |
Het |
Dnah14 |
A |
T |
1: 181,582,806 (GRCm39) |
|
probably null |
Het |
Dpp10 |
A |
G |
1: 123,339,434 (GRCm39) |
|
probably benign |
Het |
Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
Gse1 |
C |
A |
8: 121,297,636 (GRCm39) |
|
probably benign |
Het |
Med15 |
T |
C |
16: 17,470,575 (GRCm39) |
Y744C |
probably damaging |
Het |
Nlrp4d |
A |
G |
7: 10,112,367 (GRCm39) |
|
probably benign |
Het |
Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
Or4p21 |
A |
T |
2: 88,276,918 (GRCm39) |
C121* |
probably null |
Het |
Or8g30 |
T |
C |
9: 39,230,292 (GRCm39) |
N206S |
probably damaging |
Het |
Phax |
T |
A |
18: 56,706,134 (GRCm39) |
M8K |
probably benign |
Het |
Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,558,957 (GRCm39) |
T476S |
probably damaging |
Het |
Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
Simc1 |
A |
G |
13: 54,698,274 (GRCm39) |
D397G |
probably damaging |
Het |
Slc25a27 |
T |
C |
17: 43,964,262 (GRCm39) |
N203D |
probably damaging |
Het |
Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
Ube2d2a |
T |
A |
18: 35,933,225 (GRCm39) |
D87E |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTGTGAATCTGCAAGACCTG -3'
(R):5'- GATCATGCTCTTGCTCCCACAG -3'
Sequencing Primer
(F):5'- GCAAGACCTGCCTCCCATTTC -3'
(R):5'- TTGCTCCCACAGGACCTG -3'
|
Posted On |
2014-12-29 |