Incidental Mutation 'BB010:Tapbpl'
ID |
642580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tapbpl
|
Ensembl Gene |
ENSMUSG00000038213 |
Gene Name |
TAP binding protein-like |
Synonyms |
TAPBPL-R |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
BB010
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
125200896-125208823 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 125207233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 152
(Q152P)
|
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 damaging
Transcript: ENSMUST00000043422
AA Change: Q152P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000047105 Gene: ENSMUSG00000038213 AA Change: Q152P
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 |
|
Meta Mutation Damage Score |
0.3215 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933414I15Rik |
A |
G |
11: 50,833,227 (GRCm39) |
V125A |
unknown |
Het |
Adam34 |
T |
A |
8: 44,103,911 (GRCm39) |
H578L |
probably damaging |
Het |
Ago4 |
A |
T |
4: 126,400,811 (GRCm39) |
M678K |
probably benign |
Het |
Atosb |
A |
T |
4: 43,035,919 (GRCm39) |
C271S |
probably benign |
Het |
Atrn |
T |
C |
2: 130,836,986 (GRCm39) |
L1150P |
probably damaging |
Het |
Camta1 |
C |
T |
4: 151,168,214 (GRCm39) |
E279K |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
Col11a2 |
A |
T |
17: 34,275,029 (GRCm39) |
K400* |
probably null |
Het |
Cpsf4 |
T |
A |
5: 145,104,168 (GRCm39) |
M1K |
probably null |
Het |
Dnah12 |
A |
T |
14: 26,488,072 (GRCm39) |
Q992L |
probably benign |
Het |
Dnajc7 |
T |
C |
11: 100,487,038 (GRCm39) |
Y145C |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,810,279 (GRCm39) |
D892E |
possibly damaging |
Het |
Fam193a |
A |
G |
5: 34,623,539 (GRCm39) |
K23E |
possibly damaging |
Het |
Filip1 |
T |
G |
9: 79,727,329 (GRCm39) |
K430T |
possibly damaging |
Het |
Gm5089 |
T |
C |
14: 122,673,403 (GRCm39) |
D106G |
unknown |
Het |
Hip1 |
A |
T |
5: 135,489,310 (GRCm39) |
N45K |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,003,581 (GRCm39) |
S60P |
probably damaging |
Het |
Ighv1-53 |
A |
T |
12: 115,122,029 (GRCm39) |
C115* |
probably null |
Het |
Macf1 |
T |
C |
4: 123,303,444 (GRCm39) |
T353A |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,239,279 (GRCm39) |
V433E |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,909,071 (GRCm39) |
M660K |
probably damaging |
Het |
Nr2e1 |
T |
C |
10: 42,439,379 (GRCm39) |
Y380C |
probably damaging |
Het |
Or10g9b |
T |
C |
9: 39,918,431 (GRCm39) |
|
probably benign |
Het |
Or5b111 |
T |
A |
19: 13,291,569 (GRCm39) |
M27L |
probably benign |
Het |
Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
Slc6a1 |
T |
A |
6: 114,288,859 (GRCm39) |
W473R |
probably damaging |
Het |
Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,891,565 (GRCm39) |
L85P |
probably damaging |
Het |
Sprr3 |
T |
C |
3: 92,364,515 (GRCm39) |
I110V |
possibly damaging |
Het |
Ston1 |
A |
G |
17: 88,943,572 (GRCm39) |
E326G |
probably benign |
Het |
Tectb |
C |
T |
19: 55,183,105 (GRCm39) |
L319F |
possibly damaging |
Het |
Tpp2 |
G |
A |
1: 44,000,121 (GRCm39) |
G413D |
probably damaging |
Het |
Tpsg1 |
A |
G |
17: 25,592,178 (GRCm39) |
H84R |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,285,686 (GRCm39) |
N2437S |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,897,885 (GRCm39) |
Q1152R |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,467,224 (GRCm39) |
T92A |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,944,788 (GRCm39) |
V35A |
probably benign |
Het |
Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
Zfp169 |
A |
G |
13: 48,643,957 (GRCm39) |
V390A |
unknown |
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 |
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 |
R6565:Tapbpl
|
UTSW |
6 |
125,205,307 (GRCm39) |
missense |
probably benign |
0.00 |
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'- GCTTGCTCGAATAAGGATCTCC -3'
(R):5'- TCTGGCGTTGTCCATCCAAC -3'
Sequencing Primer
(F):5'- CACATGGTAGGTTCTATAAGCTGTCC -3'
(R):5'- GGCGTTGTCCATCCAACATTAC -3'
|
Posted On |
2020-08-01 |