Incidental Mutation 'R6710:Tap1'
| ID |
529108 |
| 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 |
044828-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6710 (G1)
|
| Quality Score |
140.008 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34407083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 77
(A77V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000173831]
[ENSMUST00000174576]
[ENSMUST00000171321]
|
| AlphaFold |
P21958 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041633
AA Change: A77V
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: A77V
| 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 |
noncoding transcript
Transcript: ENSMUST00000114230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168351
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170086
AA Change: A77V
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: A77V
| 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 |
noncoding transcript
Transcript: ENSMUST00000178857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179593
|
| 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: 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: ENSMUST00000174576
|
| SMART Domains |
Protein: ENSMUSP00000133499
Gene: ENSMUSG00000096727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
17 |
198 |
1.2e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171321
|
| Meta Mutation Damage Score |
0.0881 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
T |
10: 87,061,923 (GRCm39) |
E124D |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,802 (GRCm39) |
T27A |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,309,740 (GRCm39) |
I507V |
possibly damaging |
Het |
| Cela2a |
C |
A |
4: 141,549,554 (GRCm39) |
A74S |
probably damaging |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,520,429 (GRCm39) |
D590G |
possibly damaging |
Het |
| Epn1 |
A |
G |
7: 5,100,303 (GRCm39) |
E472G |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,300,128 (GRCm39) |
D318G |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,190,771 (GRCm39) |
C227R |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,387,949 (GRCm39) |
Y268C |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,553,366 (GRCm39) |
I4309N |
possibly damaging |
Het |
| Nit2 |
A |
G |
16: 56,980,493 (GRCm39) |
V95A |
possibly damaging |
Het |
| Nup205 |
T |
G |
6: 35,224,308 (GRCm39) |
I2049S |
probably benign |
Het |
| Or2h1 |
T |
G |
17: 37,404,638 (GRCm39) |
I43L |
probably damaging |
Het |
| Or7e175 |
C |
T |
9: 20,049,378 (GRCm39) |
A322V |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,452 (GRCm39) |
S81P |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,284,086 (GRCm39) |
I128V |
probably benign |
Het |
| Sem1 |
C |
A |
6: 6,578,497 (GRCm39) |
E20* |
probably null |
Het |
| Tmem26 |
T |
C |
10: 68,559,884 (GRCm39) |
L52P |
probably damaging |
Het |
| Utp3 |
T |
C |
5: 88,703,823 (GRCm39) |
Y451H |
probably damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,239 (GRCm39) |
I671N |
probably damaging |
Het |
| Zbtb39 |
T |
A |
10: 127,579,505 (GRCm39) |
I693N |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,921 (GRCm39) |
E62G |
probably damaging |
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 |
|
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 |
|
R8883:Tap1
|
UTSW |
17 |
34,406,867 (GRCm39) |
missense |
unknown |
|
|
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'- CTTCTAGTCAGCTCCACCAG -3'
(R):5'- AGACGTCTCTTCTTAGGGCC -3'
Sequencing Primer
(F):5'- AGACTCTGGACAGCTCACG -3'
(R):5'- TCTCTTCTTAGGGCCCAGGAAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation