Incidental Mutation 'R8883:Tap1'
| ID |
677131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tap1
|
| Ensembl Gene |
ENSMUSG00000037321 |
| Gene Name |
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
| Synonyms |
TAP, Ham1, RING4, MTP1, Tap-1, Ham-1, Abcb2, PSF-1 |
| MMRRC Submission |
068689-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8883 (G1)
|
| Quality Score |
169.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34406867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 5
(V5A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000171321]
[ENSMUST00000173831]
[ENSMUST00000174576]
|
| AlphaFold |
P21958 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000041633
AA Change: V5A
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: V5A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
163 |
420 |
9.1e-55 |
PFAM |
|
AAA
|
478 |
666 |
2.21e-18 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170086
AA Change: V5A
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: V5A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
163 |
434 |
5.8e-70 |
PFAM |
|
AAA
|
506 |
694 |
2.21e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171148
|
| SMART Domains |
Protein: ENSMUSP00000130189
Gene: ENSMUSG00000037321
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
1 |
114 |
1.5e-24 |
PFAM |
|
Pfam:ABC_tran
|
167 |
196 |
1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171321
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173831
|
| SMART Domains |
Protein: ENSMUSP00000134120
Gene: ENSMUSG00000096727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
1 |
64 |
2.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174576
|
| SMART Domains |
Protein: ENSMUSP00000133499
Gene: ENSMUSG00000096727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
17 |
198 |
1.2e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This protein forms a heterodimer with Tap2 that transports short peptides from the cytosol into the endoplasmic reticulum lumen. Mutations in the human gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are deficient in antigen presentation, surface class I antigens, and CD4-8+ T cells. [provided by MGI curators]
|
| Allele List at MGI |
All alleles( 2) : Targeted, knock-out( 2) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,283,168 (GRCm39) |
S3197P |
probably benign |
Het |
| Arih2 |
A |
G |
9: 108,486,992 (GRCm39) |
S315P |
probably damaging |
Het |
| Atp1b3 |
A |
T |
9: 96,246,122 (GRCm39) |
L29Q |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,990,227 (GRCm39) |
P1842S |
probably damaging |
Het |
| Ccnb1ip1 |
G |
C |
14: 51,027,359 (GRCm39) |
P248A |
probably benign |
Het |
| Cep76 |
T |
C |
18: 67,766,540 (GRCm39) |
Q262R |
probably benign |
Het |
| Cox10 |
T |
C |
11: 63,884,775 (GRCm39) |
E210G |
probably damaging |
Het |
| Dcaf1 |
T |
G |
9: 106,724,839 (GRCm39) |
|
probably benign |
Het |
| Dgki |
A |
T |
6: 36,993,608 (GRCm39) |
D584E |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,121,243 (GRCm39) |
E428G |
probably damaging |
Het |
| Fbh1 |
A |
G |
2: 11,753,922 (GRCm39) |
F807L |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,305,044 (GRCm39) |
V533A |
|
Het |
| Fermt3 |
G |
T |
19: 6,980,600 (GRCm39) |
D322E |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,809,524 (GRCm39) |
V1948L |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,442,204 (GRCm39) |
D206G |
probably benign |
Het |
| Gjd3 |
A |
G |
11: 102,691,769 (GRCm39) |
V78A |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
| Hmces |
G |
A |
6: 87,910,396 (GRCm39) |
A269T |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,814,025 (GRCm39) |
N2434K |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,361,342 (GRCm39) |
S49T |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lap3 |
C |
A |
5: 45,669,272 (GRCm39) |
H474N |
probably benign |
Het |
| Ldlrad1 |
A |
G |
4: 107,073,412 (GRCm39) |
Y149C |
probably damaging |
Het |
| Lsm8 |
T |
C |
6: 18,851,747 (GRCm39) |
V62A |
probably benign |
Het |
| Map3k14 |
T |
G |
11: 103,130,278 (GRCm39) |
Q213P |
probably benign |
Het |
| Mboat2 |
T |
G |
12: 25,009,033 (GRCm39) |
H478Q |
|
Het |
| Mepce |
C |
A |
5: 137,784,779 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,355,636 (GRCm39) |
R233H |
|
Het |
| Muc2 |
A |
G |
7: 141,287,469 (GRCm39) |
H216R |
probably damaging |
Het |
| Ntmt1 |
G |
A |
2: 30,712,466 (GRCm39) |
A170T |
probably benign |
Het |
| Or2ag15 |
A |
G |
7: 106,340,274 (GRCm39) |
I289T |
possibly damaging |
Het |
| Or2d3 |
A |
C |
7: 106,490,536 (GRCm39) |
M260R |
probably damaging |
Het |
| Or5w17 |
T |
A |
2: 87,583,838 (GRCm39) |
L166F |
probably damaging |
Het |
| Or8g19 |
A |
G |
9: 39,056,083 (GRCm39) |
H229R |
probably benign |
Het |
| Pebp4 |
G |
T |
14: 70,085,098 (GRCm39) |
C52F |
probably damaging |
Het |
| Pigm |
T |
A |
1: 172,205,085 (GRCm39) |
Y274N |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,424,468 (GRCm39) |
S358P |
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,767,368 (GRCm39) |
I252T |
probably benign |
Het |
| Prss3b |
G |
T |
6: 41,009,305 (GRCm39) |
Y176* |
probably null |
Het |
| Racgap1 |
A |
G |
15: 99,526,540 (GRCm39) |
V341A |
probably benign |
Het |
| Rprd1a |
T |
C |
18: 24,640,260 (GRCm39) |
D172G |
possibly damaging |
Het |
| Spg11 |
T |
C |
2: 121,943,561 (GRCm39) |
D197G |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,412,474 (GRCm39) |
D339G |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,021,145 (GRCm39) |
K574N |
possibly damaging |
Het |
| Srrd |
A |
T |
5: 112,487,790 (GRCm39) |
F130L |
possibly damaging |
Het |
| Stim1 |
A |
T |
7: 102,080,257 (GRCm39) |
H547L |
unknown |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Tent5c |
C |
A |
3: 100,379,707 (GRCm39) |
A350S |
probably benign |
Het |
| Usp45 |
G |
A |
4: 21,825,006 (GRCm39) |
G586D |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,855,479 (GRCm39) |
A2515S |
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfyve28 |
T |
C |
5: 34,375,211 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
rose
|
APN |
17 |
34,413,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01294:Tap1
|
APN |
17 |
34,413,019 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01776:Tap1
|
APN |
17 |
34,412,102 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01787:Tap1
|
APN |
17 |
34,415,578 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02246:Tap1
|
APN |
17 |
34,412,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02996:Tap1
|
APN |
17 |
34,410,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03278:Tap1
|
APN |
17 |
34,410,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bullus
|
UTSW |
17 |
34,408,536 (GRCm39) |
critical splice donor site |
probably null |
|
|
entertainer
|
UTSW |
17 |
34,412,293 (GRCm39) |
splice site |
probably null |
|
|
joplin
|
UTSW |
17 |
34,412,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ragtime
|
UTSW |
17 |
34,409,616 (GRCm39) |
nonsense |
probably null |
|
|
rose2
|
UTSW |
17 |
34,413,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Tapestry
|
UTSW |
17 |
34,412,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Tap1
|
UTSW |
17 |
34,412,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Tap1
|
UTSW |
17 |
34,408,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1795:Tap1
|
UTSW |
17 |
34,413,899 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1837:Tap1
|
UTSW |
17 |
34,407,083 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1839:Tap1
|
UTSW |
17 |
34,407,083 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1892:Tap1
|
UTSW |
17 |
34,413,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Tap1
|
UTSW |
17 |
34,413,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1952:Tap1
|
UTSW |
17 |
34,412,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Tap1
|
UTSW |
17 |
34,408,447 (GRCm39) |
splice site |
probably null |
|
|
R3744:Tap1
|
UTSW |
17 |
34,412,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Tap1
|
UTSW |
17 |
34,412,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Tap1
|
UTSW |
17 |
34,408,541 (GRCm39) |
unclassified |
probably benign |
|
|
R4418:Tap1
|
UTSW |
17 |
34,407,353 (GRCm39) |
splice site |
probably null |
|
|
R4779:Tap1
|
UTSW |
17 |
34,412,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Tap1
|
UTSW |
17 |
34,412,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5715:Tap1
|
UTSW |
17 |
34,411,868 (GRCm39) |
nonsense |
probably null |
|
|
R5838:Tap1
|
UTSW |
17 |
34,412,279 (GRCm39) |
nonsense |
probably null |
|
|
R6248:Tap1
|
UTSW |
17 |
34,412,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6710:Tap1
|
UTSW |
17 |
34,407,083 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6881:Tap1
|
UTSW |
17 |
34,407,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7437:Tap1
|
UTSW |
17 |
34,409,616 (GRCm39) |
nonsense |
probably null |
|
|
R7514:Tap1
|
UTSW |
17 |
34,415,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7618:Tap1
|
UTSW |
17 |
34,407,212 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7968:Tap1
|
UTSW |
17 |
34,413,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8115:Tap1
|
UTSW |
17 |
34,412,293 (GRCm39) |
splice site |
probably null |
|
|
R8146:Tap1
|
UTSW |
17 |
34,408,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8322:Tap1
|
UTSW |
17 |
34,412,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8539:Tap1
|
UTSW |
17 |
34,408,409 (GRCm39) |
missense |
probably benign |
|
|
R8751:Tap1
|
UTSW |
17 |
34,412,133 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8885:Tap1
|
UTSW |
17 |
34,408,536 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9191:Tap1
|
UTSW |
17 |
34,413,956 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9232:Tap1
|
UTSW |
17 |
34,412,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9604:Tap1
|
UTSW |
17 |
34,412,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9656:Tap1
|
UTSW |
17 |
34,412,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACTTCTAGTCAGCTCCAC -3'
(R):5'- TCTCGGAACAAGGCAAGTC -3'
Sequencing Primer
(F):5'- GCTCCACCAGCTCGAGC -3'
(R):5'- AGGGCCAAACTCAGTGCG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation