Incidental Mutation 'R2214:Tapbp'
| ID |
241050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tapbp
|
| Ensembl Gene |
ENSMUSG00000024308 |
| Gene Name |
TAP binding protein |
| Synonyms |
TPN, D17Wsu91e, tapasin |
| MMRRC Submission |
040216-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R2214 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34138452-34148264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34139300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 90
(F90L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025161]
[ENSMUST00000053429]
[ENSMUST00000079421]
[ENSMUST00000170075]
[ENSMUST00000172619]
[ENSMUST00000174541]
[ENSMUST00000174146]
[ENSMUST00000174463]
|
| AlphaFold |
Q9R233 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025161
AA Change: F99L
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308
AA Change: F99L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
152 |
N/A |
INTRINSIC |
|
IG
|
168 |
292 |
3.45e0 |
SMART |
|
IG_like
|
302 |
406 |
4.78e1 |
SMART |
|
transmembrane domain
|
416 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053429
|
| SMART Domains |
Protein: ENSMUSP00000057466
Gene: ENSMUSG00000051390
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
30 |
N/A |
INTRINSIC |
|
BTB
|
57 |
151 |
7.21e-22 |
SMART |
|
low complexity region
|
152 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
479 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
483 |
504 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
538 |
559 |
4.69e0 |
SMART |
|
low complexity region
|
567 |
587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079421
|
| SMART Domains |
Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
Pfam:Daxx
|
54 |
152 |
1.3e-51 |
PFAM |
|
Blast:KISc
|
185 |
261 |
2e-17 |
BLAST |
|
PDB:4H9S|F
|
189 |
404 |
1e-131 |
PDB |
|
SCOP:d1sig__
|
437 |
493 |
7e-3 |
SMART |
|
low complexity region
|
573 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
715 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170075
|
| SMART Domains |
Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
740 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172489
|
| SMART Domains |
Protein: ENSMUSP00000133332
Gene: ENSMUSG00000024308
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
18 |
142 |
3.45e0 |
SMART |
|
SCOP:d2fbjh2
|
143 |
189 |
2e-3 |
SMART |
|
Blast:IG_like
|
152 |
206 |
6e-31 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172619
AA Change: F90L
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134695
Gene: ENSMUSG00000024308
AA Change: F90L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3F8U|D
|
12 |
119 |
1e-38 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174541
|
| SMART Domains |
Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
702 |
1.5e-297 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174146
|
| SMART Domains |
Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
740 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174463
|
| SMART Domains |
Protein: ENSMUSP00000133345
Gene: ENSMUSG00000051390
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
30 |
N/A |
INTRINSIC |
|
Pfam:BTB
|
47 |
87 |
7.9e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced and thermolabile MHC class I surface expression due to impaired peptide loading with stabilizing peptides, impaired T cell selection, altered NK repertoire, lower CD8+ T cell numbers, and impaired responses to select class I-restricted antigens. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,926,946 (GRCm39) |
Y516C |
probably benign |
Het |
| Adam22 |
C |
T |
5: 8,186,805 (GRCm39) |
|
probably null |
Het |
| Akap8l |
T |
C |
17: 32,557,799 (GRCm39) |
|
probably null |
Het |
| Casr |
T |
C |
16: 36,336,120 (GRCm39) |
Y63C |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,048,047 (GRCm39) |
D781G |
possibly damaging |
Het |
| Col9a1 |
C |
A |
1: 24,247,283 (GRCm39) |
P168Q |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,397,019 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
T |
1: 34,310,482 (GRCm39) |
T6325M |
probably damaging |
Het |
| Ercc4 |
C |
A |
16: 12,927,888 (GRCm39) |
D19E |
probably damaging |
Het |
| Gm1110 |
C |
A |
9: 26,813,786 (GRCm39) |
V198L |
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,396 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
A |
T |
6: 111,335,958 (GRCm39) |
I790F |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,306,249 (GRCm39) |
D445G |
possibly damaging |
Het |
| Kat7 |
G |
A |
11: 95,166,631 (GRCm39) |
T517I |
probably damaging |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,178 (GRCm39) |
D592E |
possibly damaging |
Het |
| Lgals8 |
T |
A |
13: 12,469,713 (GRCm39) |
Q82L |
probably benign |
Het |
| Lmtk3 |
A |
G |
7: 45,444,277 (GRCm39) |
|
probably benign |
Het |
| Map2 |
A |
T |
1: 66,459,345 (GRCm39) |
D1530V |
probably damaging |
Het |
| Map2k6 |
G |
A |
11: 110,387,167 (GRCm39) |
V180I |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,035 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,623,327 (GRCm39) |
E2059G |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,673,953 (GRCm39) |
D660G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,488,803 (GRCm39) |
V658E |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,953,487 (GRCm39) |
S1090T |
possibly damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,363,875 (GRCm39) |
H217R |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,166,520 (GRCm39) |
I118F |
probably damaging |
Het |
| Or14a259 |
T |
A |
7: 86,013,414 (GRCm39) |
I44F |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,655 (GRCm39) |
L166* |
probably null |
Het |
| Or4p20 |
C |
T |
2: 88,253,461 (GRCm39) |
V303M |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,947,499 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Pfkfb4 |
T |
A |
9: 108,834,677 (GRCm39) |
F117I |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,822,424 (GRCm39) |
Y214C |
probably benign |
Het |
| Prr7 |
C |
A |
13: 55,620,613 (GRCm39) |
S207* |
probably null |
Het |
| Ptprh |
T |
A |
7: 4,555,921 (GRCm39) |
Q715L |
possibly damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,115,646 (GRCm39) |
D647E |
probably damaging |
Het |
| Rnf20 |
T |
A |
4: 49,648,344 (GRCm39) |
M384K |
possibly damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,424,896 (GRCm39) |
C37S |
possibly damaging |
Het |
| Serpinb9f |
C |
A |
13: 33,518,592 (GRCm39) |
T364K |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,285,075 (GRCm39) |
A641T |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,035,719 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,299,528 (GRCm39) |
S849L |
possibly damaging |
Het |
| Syt15 |
A |
T |
14: 33,944,989 (GRCm39) |
S179C |
probably damaging |
Het |
| Timm23 |
A |
T |
14: 31,920,944 (GRCm39) |
D49E |
probably damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tmem174 |
A |
C |
13: 98,773,757 (GRCm39) |
S24R |
possibly damaging |
Het |
| Tmem63a |
A |
G |
1: 180,788,679 (GRCm39) |
S339G |
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,627 (GRCm39) |
Y173C |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,199,714 (GRCm39) |
|
probably null |
Het |
| Upp1 |
T |
A |
11: 9,086,033 (GRCm39) |
V290E |
probably benign |
Het |
| Uqcc4 |
T |
C |
17: 25,403,699 (GRCm39) |
V13A |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,639 (GRCm39) |
M96K |
probably benign |
Het |
| Wdr20rt |
A |
G |
12: 65,274,187 (GRCm39) |
E449G |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,705,082 (GRCm39) |
S286T |
probably benign |
Het |
|
| Other mutations in Tapbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Tapbp
|
APN |
17 |
34,138,866 (GRCm39) |
missense |
probably benign |
|
|
IGL00229:Tapbp
|
APN |
17 |
34,144,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0002:Tapbp
|
UTSW |
17 |
34,144,606 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0416:Tapbp
|
UTSW |
17 |
34,144,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0800:Tapbp
|
UTSW |
17 |
34,145,227 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0839:Tapbp
|
UTSW |
17 |
34,144,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1584:Tapbp
|
UTSW |
17 |
34,138,914 (GRCm39) |
splice site |
probably null |
|
|
R1617:Tapbp
|
UTSW |
17 |
34,139,405 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3941:Tapbp
|
UTSW |
17 |
34,139,457 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4570:Tapbp
|
UTSW |
17 |
34,145,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4571:Tapbp
|
UTSW |
17 |
34,145,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4935:Tapbp
|
UTSW |
17 |
34,144,596 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6195:Tapbp
|
UTSW |
17 |
34,138,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6233:Tapbp
|
UTSW |
17 |
34,138,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Tapbp
|
UTSW |
17 |
34,145,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Tapbp
|
UTSW |
17 |
34,138,931 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7139:Tapbp
|
UTSW |
17 |
34,139,022 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7146:Tapbp
|
UTSW |
17 |
34,144,461 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7233:Tapbp
|
UTSW |
17 |
34,138,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7448:Tapbp
|
UTSW |
17 |
34,139,391 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7630:Tapbp
|
UTSW |
17 |
34,139,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8545:Tapbp
|
UTSW |
17 |
34,139,291 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTTACCTGCATCTGTCG -3'
(R):5'- TGTTGCCATGGTGATGACGAC -3'
Sequencing Primer
(F):5'- AATACGTTTGGATGCTCTCTAAGTCG -3'
(R):5'- CATGGTGATGACGACAGGCTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation