Incidental Mutation 'R6565:Tapbpl'
ID |
522617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tapbpl
|
Ensembl Gene |
ENSMUSG00000038213 |
Gene Name |
TAP binding protein-like |
Synonyms |
TAPBPL-R |
MMRRC Submission |
044689-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R6565 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
125200896-125208823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125205307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 213
(V213A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032486]
[ENSMUST00000043422]
[ENSMUST00000063588]
[ENSMUST00000112281]
[ENSMUST00000112282]
|
AlphaFold |
Q8VD31 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032486
|
SMART Domains |
Protein: ENSMUSP00000032486 Gene: ENSMUSG00000030336
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
TNFR
|
27 |
62 |
1.11e-2 |
SMART |
TNFR
|
65 |
104 |
1.23e-4 |
SMART |
low complexity region
|
131 |
147 |
N/A |
INTRINSIC |
transmembrane domain
|
183 |
202 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043422
AA Change: V213A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000047105 Gene: ENSMUSG00000038213 AA Change: V213A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IG
|
202 |
306 |
1.11e-5 |
SMART |
IGc1
|
321 |
397 |
3.97e-7 |
SMART |
transmembrane domain
|
412 |
434 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063588
|
SMART Domains |
Protein: ENSMUSP00000063466 Gene: ENSMUSG00000030337
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
26 |
N/A |
INTRINSIC |
Pfam:Synaptobrevin
|
30 |
118 |
5.4e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112281
|
SMART Domains |
Protein: ENSMUSP00000107900 Gene: ENSMUSG00000030336
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
TNFR
|
27 |
62 |
1.11e-2 |
SMART |
Blast:TNFR
|
65 |
100 |
4e-10 |
BLAST |
transmembrane domain
|
120 |
142 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112282
|
SMART Domains |
Protein: ENSMUSP00000107901 Gene: ENSMUSG00000030336
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Blast:TNFR
|
27 |
45 |
1e-6 |
BLAST |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160523
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
C |
A |
15: 60,792,659 (GRCm39) |
C96F |
probably damaging |
Het |
Abca7 |
C |
T |
10: 79,847,622 (GRCm39) |
P1764L |
probably damaging |
Het |
Acvr1 |
G |
A |
2: 58,369,769 (GRCm39) |
T80M |
probably damaging |
Het |
Adgrb2 |
T |
C |
4: 129,913,069 (GRCm39) |
L1398P |
probably damaging |
Het |
B4galnt3 |
G |
A |
6: 120,194,440 (GRCm39) |
Q362* |
probably null |
Het |
Cadm3 |
G |
T |
1: 173,169,276 (GRCm39) |
Q246K |
possibly damaging |
Het |
Cdc14b |
T |
C |
13: 64,373,444 (GRCm39) |
T110A |
probably benign |
Het |
Cyp2c55 |
A |
C |
19: 39,030,566 (GRCm39) |
D466A |
probably benign |
Het |
Dmrtb1 |
T |
C |
4: 107,536,542 (GRCm39) |
Y308C |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,826,623 (GRCm39) |
D4443G |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Grin2d |
A |
G |
7: 45,484,179 (GRCm39) |
L772P |
probably damaging |
Het |
Gsdme |
T |
C |
6: 50,206,429 (GRCm39) |
N138S |
probably damaging |
Het |
Hmgb4 |
T |
A |
4: 128,154,388 (GRCm39) |
Y60F |
probably benign |
Het |
Ift172 |
G |
A |
5: 31,433,227 (GRCm39) |
A554V |
possibly damaging |
Het |
Iigp1 |
T |
A |
18: 60,523,839 (GRCm39) |
V319E |
probably damaging |
Het |
Kit |
A |
G |
5: 75,806,513 (GRCm39) |
T673A |
probably damaging |
Het |
Lilra6 |
A |
T |
7: 3,918,019 (GRCm39) |
W42R |
probably benign |
Het |
Mia3 |
A |
T |
1: 183,112,340 (GRCm39) |
H477Q |
probably damaging |
Het |
Oas1b |
C |
A |
5: 120,952,611 (GRCm39) |
Q101K |
possibly damaging |
Het |
Or2v1 |
A |
G |
11: 49,025,639 (GRCm39) |
M207V |
probably damaging |
Het |
Or51a5 |
T |
C |
7: 102,771,445 (GRCm39) |
H178R |
probably damaging |
Het |
Plcl1 |
T |
A |
1: 55,737,117 (GRCm39) |
C819* |
probably null |
Het |
Pmfbp1 |
C |
T |
8: 110,252,060 (GRCm39) |
Q402* |
probably null |
Het |
Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
Skor2 |
C |
G |
18: 76,947,607 (GRCm39) |
A443G |
possibly damaging |
Het |
Trim52 |
G |
A |
14: 106,344,653 (GRCm39) |
D104N |
probably damaging |
Het |
|
Other mutations in Tapbpl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03083:Tapbpl
|
APN |
6 |
125,205,191 (GRCm39) |
splice site |
probably null |
|
IGL03308:Tapbpl
|
APN |
6 |
125,205,142 (GRCm39) |
missense |
possibly damaging |
0.93 |
BB010:Tapbpl
|
UTSW |
6 |
125,207,233 (GRCm39) |
missense |
probably damaging |
1.00 |
BB020:Tapbpl
|
UTSW |
6 |
125,207,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R1666:Tapbpl
|
UTSW |
6 |
125,207,164 (GRCm39) |
missense |
probably benign |
0.00 |
R3707:Tapbpl
|
UTSW |
6 |
125,201,658 (GRCm39) |
splice site |
probably null |
|
R4521:Tapbpl
|
UTSW |
6 |
125,205,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R4744:Tapbpl
|
UTSW |
6 |
125,205,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R6290:Tapbpl
|
UTSW |
6 |
125,207,679 (GRCm39) |
missense |
probably benign |
0.00 |
R6328:Tapbpl
|
UTSW |
6 |
125,201,881 (GRCm39) |
missense |
probably benign |
0.40 |
R7085:Tapbpl
|
UTSW |
6 |
125,203,451 (GRCm39) |
splice site |
probably null |
|
R7251:Tapbpl
|
UTSW |
6 |
125,203,558 (GRCm39) |
missense |
probably damaging |
0.98 |
R7933:Tapbpl
|
UTSW |
6 |
125,207,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R8230:Tapbpl
|
UTSW |
6 |
125,203,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R8920:Tapbpl
|
UTSW |
6 |
125,205,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R9372:Tapbpl
|
UTSW |
6 |
125,203,672 (GRCm39) |
missense |
probably benign |
0.28 |
R9406:Tapbpl
|
UTSW |
6 |
125,205,319 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Tapbpl
|
UTSW |
6 |
125,207,533 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGGCAGATGTAGTTCCCC -3'
(R):5'- ACTCAGTACCACTGTCCAGG -3'
Sequencing Primer
(F):5'- TGAGAGAGGCGTTTCCAGC -3'
(R):5'- TACCACTGTCCAGGGAAGG -3'
|
Posted On |
2018-06-06 |