Incidental Mutation 'R4059:Tnip1'
| ID |
314396 |
| 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 |
040970-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4059 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54801611-54853743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54802395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 638
(S638P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018482]
[ENSMUST00000082430]
[ENSMUST00000102730]
[ENSMUST00000102731]
[ENSMUST00000108885]
[ENSMUST00000108886]
[ENSMUST00000108889]
[ENSMUST00000149324]
[ENSMUST00000125094]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018482
AA Change: S638P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400
AA Change: S638P
| 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 benign
Transcript: ENSMUST00000102731
AA Change: S638P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400
AA Change: S638P
| 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
AA Change: S585P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400
AA Change: S585P
| 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
AA Change: S585P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400
AA Change: S585P
| 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
AA Change: S638P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400
AA Change: S638P
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0605 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
| Agbl3 |
T |
C |
6: 34,823,834 (GRCm39) |
L833P |
probably damaging |
Het |
| Amph |
T |
C |
13: 19,326,168 (GRCm39) |
S633P |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,577,505 (GRCm39) |
V60A |
probably benign |
Het |
| Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| BC051019 |
C |
T |
7: 109,317,202 (GRCm39) |
W163* |
probably null |
Het |
| Capza1 |
T |
C |
3: 104,732,427 (GRCm39) |
E245G |
probably damaging |
Het |
| Cd81 |
G |
T |
7: 142,619,030 (GRCm39) |
C18F |
probably damaging |
Het |
| Cfap45 |
G |
T |
1: 172,366,056 (GRCm39) |
R303L |
probably benign |
Het |
| Commd9 |
T |
C |
2: 101,725,499 (GRCm39) |
V24A |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,819,174 (GRCm39) |
N1742D |
possibly damaging |
Het |
| Dgat1 |
G |
T |
15: 76,388,371 (GRCm39) |
A182D |
possibly damaging |
Het |
| Dlg4 |
T |
C |
11: 69,917,909 (GRCm39) |
L64P |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
| Epb41l4b |
C |
T |
4: 57,024,337 (GRCm39) |
|
probably null |
Het |
| Fam13c |
T |
C |
10: 70,390,338 (GRCm39) |
L533P |
probably damaging |
Het |
| Fjx1 |
T |
C |
2: 102,281,066 (GRCm39) |
T290A |
possibly damaging |
Het |
| Hid1 |
C |
T |
11: 115,247,565 (GRCm39) |
E278K |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,400,717 (GRCm39) |
I57T |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,002,960 (GRCm39) |
K175E |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,792,781 (GRCm39) |
T14A |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,376,614 (GRCm39) |
T181A |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,154,428 (GRCm39) |
E33G |
probably damaging |
Het |
| Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
| Mocos |
G |
A |
18: 24,812,447 (GRCm39) |
G447D |
probably damaging |
Het |
| Ngef |
T |
A |
1: 87,413,953 (GRCm39) |
K399N |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,688,786 (GRCm39) |
L589P |
probably damaging |
Het |
| Or4c104 |
C |
T |
2: 88,586,795 (GRCm39) |
V75I |
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
| Peg10 |
T |
G |
6: 4,756,427 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,414,156 (GRCm39) |
H2808Y |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
| Ptcd2 |
A |
G |
13: 99,481,084 (GRCm39) |
C32R |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Rhoh |
G |
A |
5: 66,049,931 (GRCm39) |
S67N |
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,038,760 (GRCm39) |
F43L |
probably damaging |
Het |
| Runx1 |
A |
G |
16: 92,441,134 (GRCm39) |
V225A |
probably benign |
Het |
| Runx1t1 |
T |
C |
4: 13,889,769 (GRCm39) |
V566A |
probably benign |
Het |
| Sall2 |
A |
G |
14: 52,552,028 (GRCm39) |
I387T |
probably damaging |
Het |
| Sec14l1 |
T |
A |
11: 117,040,024 (GRCm39) |
V384D |
possibly damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,919,355 (GRCm39) |
C491R |
probably damaging |
Het |
| Slc22a27 |
T |
A |
19: 7,856,973 (GRCm39) |
|
probably benign |
Het |
| Spire1 |
A |
G |
18: 67,678,783 (GRCm39) |
S53P |
probably damaging |
Het |
| Tmco3 |
A |
G |
8: 13,370,848 (GRCm39) |
R671G |
probably benign |
Het |
| Tmpo |
A |
G |
10: 90,998,123 (GRCm39) |
S555P |
probably benign |
Het |
| Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
| Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
| Ucp3 |
T |
C |
7: 100,131,871 (GRCm39) |
Y241H |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,818,339 (GRCm39) |
I831V |
probably benign |
Het |
| Zan |
T |
C |
5: 137,435,082 (GRCm39) |
I2104V |
unknown |
Het |
| Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
probably benign |
Het |
| Zfp715 |
T |
C |
7: 42,951,155 (GRCm39) |
M48V |
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 |
|
R2974:Tnip1
|
UTSW |
11 |
54,824,809 (GRCm39) |
unclassified |
probably benign |
|
|
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'- ATGTGAGCCAGCTACCCATC -3'
(R):5'- CTATCTTAGTGAGTGGCAGAGG -3'
Sequencing Primer
(F):5'- GCTACCCATCCCAGCCTC -3'
(R):5'- AGGTGACAAATGGCCTCTTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation