Incidental Mutation 'R6050:Tnip1'
| ID |
483509 |
| 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 |
044218-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6050 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
54801611-54853743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54808703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 495
(R495C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018482]
[ENSMUST00000102730]
[ENSMUST00000102731]
[ENSMUST00000108885]
[ENSMUST00000108886]
[ENSMUST00000108889]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018482
AA Change: R495C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400
AA Change: R495C
| 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 damaging
Transcript: ENSMUST00000102730
AA Change: R495C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099791
Gene: ENSMUSG00000020400
AA Change: R495C
| 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 damaging
Transcript: ENSMUST00000102731
AA Change: R495C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400
AA Change: R495C
| 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 damaging
Transcript: ENSMUST00000108885
AA Change: R442C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400
AA Change: R442C
| 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 damaging
Transcript: ENSMUST00000108886
AA Change: R442C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400
AA Change: R442C
| 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 damaging
Transcript: ENSMUST00000108889
AA Change: R495C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400
AA Change: R495C
| 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 |
noncoding transcript
Transcript: ENSMUST00000132224
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,793,202 (GRCm39) |
D1481G |
possibly damaging |
Het |
| Ak9 |
A |
G |
10: 41,265,108 (GRCm39) |
E955G |
possibly damaging |
Het |
| Aox3 |
T |
C |
1: 58,219,814 (GRCm39) |
F1138S |
possibly damaging |
Het |
| Bbs2 |
T |
A |
8: 94,819,160 (GRCm39) |
N70Y |
probably damaging |
Het |
| BC048679 |
T |
C |
7: 81,145,339 (GRCm39) |
I70V |
possibly damaging |
Het |
| Catspere2 |
G |
A |
1: 177,931,490 (GRCm39) |
A470T |
unknown |
Het |
| Ccdc141 |
G |
T |
2: 76,842,075 (GRCm39) |
A1452E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,812 (GRCm39) |
D1883G |
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,511,397 (GRCm39) |
I280M |
possibly damaging |
Het |
| Cmtr1 |
G |
T |
17: 29,901,108 (GRCm39) |
K678N |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,793,530 (GRCm39) |
D329G |
possibly damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,149,956 (GRCm39) |
P116S |
probably benign |
Het |
| Fcf1 |
G |
A |
12: 85,029,017 (GRCm39) |
C154Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,560,433 (GRCm39) |
N1358S |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gtf3c3 |
T |
C |
1: 54,445,229 (GRCm39) |
I608M |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,526,158 (GRCm39) |
D210N |
possibly damaging |
Het |
| Ift140 |
C |
T |
17: 25,309,979 (GRCm39) |
R1129C |
probably damaging |
Het |
| Lias |
A |
G |
5: 65,551,315 (GRCm39) |
I83V |
possibly damaging |
Het |
| Mlh3 |
T |
C |
12: 85,287,620 (GRCm39) |
T1342A |
possibly damaging |
Het |
| Mn1 |
A |
G |
5: 111,567,263 (GRCm39) |
Y411C |
probably damaging |
Het |
| Mrps21 |
C |
T |
3: 95,770,200 (GRCm39) |
R43H |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,240,054 (GRCm39) |
Q172* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,362,501 (GRCm39) |
T1375A |
probably benign |
Het |
| Oga |
A |
C |
19: 45,753,919 (GRCm39) |
S652A |
possibly damaging |
Het |
| Ovol3 |
T |
A |
7: 29,933,819 (GRCm39) |
Y101F |
probably benign |
Het |
| Pcbp4 |
T |
C |
9: 106,339,422 (GRCm39) |
V45A |
probably benign |
Het |
| Plec |
T |
C |
15: 76,072,458 (GRCm39) |
E709G |
probably damaging |
Het |
| Prcc |
G |
A |
3: 87,777,191 (GRCm39) |
T261I |
probably damaging |
Het |
| Psg25 |
A |
G |
7: 18,260,403 (GRCm39) |
V165A |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,376,896 (GRCm39) |
P133S |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,218,383 (GRCm39) |
T251M |
unknown |
Het |
| Sec14l2 |
T |
C |
11: 4,061,477 (GRCm39) |
D67G |
probably benign |
Het |
| Smtnl1 |
A |
G |
2: 84,641,797 (GRCm39) |
I441T |
probably damaging |
Het |
| Tbce |
C |
T |
13: 14,173,019 (GRCm39) |
V471I |
possibly damaging |
Het |
| Trbv19 |
A |
G |
6: 41,155,944 (GRCm39) |
K105R |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,010,744 (GRCm39) |
N229I |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,689,521 (GRCm39) |
F5028L |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,691 (GRCm39) |
S673P |
probably damaging |
Het |
| Zfp780b |
A |
T |
7: 27,663,727 (GRCm39) |
I276N |
probably damaging |
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 |
|
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 |
|
|
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'- CAGAGCTAGAACTCCCTACCTG -3'
(R):5'- AGGTGCCCTACTCAAATCTCC -3'
Sequencing Primer
(F):5'- CCTCGACATTATACAGAGGTCAGTG -3'
(R):5'- GTGCCCTACTCAAATCTCCAATGC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation