Incidental Mutation 'R9191:Tap1'
ID |
705621 |
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 |
068952-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9191 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 34413956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128401
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025196]
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000173441]
|
AlphaFold |
P21958 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025196
|
SMART Domains |
Protein: ENSMUSP00000025196 Gene: ENSMUSG00000024338
Domain | Start | End | E-Value | Type |
Pfam:Proteasome
|
69 |
251 |
1.9e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041633
|
SMART Domains |
Protein: ENSMUSP00000039264 Gene: ENSMUSG00000037321
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 |
probably null
Transcript: ENSMUST00000170086
|
SMART Domains |
Protein: ENSMUSP00000128401 Gene: ENSMUSG00000037321
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: ENSMUST00000173441
|
SMART Domains |
Protein: ENSMUSP00000134664 Gene: ENSMUSG00000024338
Domain | Start | End | E-Value | Type |
Pfam:Proteasome
|
69 |
248 |
6.3e-53 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (36/36) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
G |
A |
5: 113,330,564 (GRCm39) |
R1217W |
probably benign |
Het |
Acta2 |
T |
A |
19: 34,222,480 (GRCm39) |
I214F |
possibly damaging |
Het |
Adgra3 |
A |
C |
5: 50,145,006 (GRCm39) |
I529S |
possibly damaging |
Het |
Aknad1 |
C |
T |
3: 108,664,093 (GRCm39) |
P352L |
probably damaging |
Het |
Arhgap26 |
G |
A |
18: 39,439,893 (GRCm39) |
R277Q |
|
Het |
Atm |
T |
C |
9: 53,438,590 (GRCm39) |
T127A |
probably benign |
Het |
Bmp3 |
A |
T |
5: 99,019,946 (GRCm39) |
E123V |
probably damaging |
Het |
Brap |
A |
G |
5: 121,823,350 (GRCm39) |
Q524R |
probably benign |
Het |
Ccdc34 |
T |
A |
2: 109,852,301 (GRCm39) |
M141K |
possibly damaging |
Het |
Crybb1 |
T |
A |
5: 112,417,199 (GRCm39) |
Y196N |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,045,048 (GRCm39) |
R293H |
probably benign |
Het |
Ercc8 |
T |
A |
13: 108,305,914 (GRCm39) |
D96E |
probably benign |
Het |
Intu |
T |
A |
3: 40,646,941 (GRCm39) |
L605M |
probably damaging |
Het |
Kif21b |
A |
T |
1: 136,100,559 (GRCm39) |
K1547* |
probably null |
Het |
Larp4b |
T |
A |
13: 9,220,830 (GRCm39) |
V693D |
probably benign |
Het |
Msantd5f6 |
A |
T |
4: 73,319,670 (GRCm39) |
S269T |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,556,106 (GRCm39) |
K3396E |
unknown |
Het |
Myo3a |
A |
T |
2: 22,469,841 (GRCm39) |
R1475S |
probably benign |
Het |
Neto1 |
A |
G |
18: 86,516,781 (GRCm39) |
K366R |
probably damaging |
Het |
Nphp4 |
A |
T |
4: 152,640,687 (GRCm39) |
D1018V |
probably damaging |
Het |
Nt5e |
T |
C |
9: 88,246,874 (GRCm39) |
M370T |
possibly damaging |
Het |
Pappa2 |
A |
G |
1: 158,684,988 (GRCm39) |
V717A |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,161,981 (GRCm39) |
I512T |
probably benign |
Het |
Pcdhga7 |
A |
G |
18: 37,848,932 (GRCm39) |
Q313R |
probably benign |
Het |
Prpf40b |
A |
T |
15: 99,202,064 (GRCm39) |
Q54L |
probably null |
Het |
Rasgrf1 |
G |
A |
9: 89,883,923 (GRCm39) |
V943M |
probably damaging |
Het |
Serbp1 |
A |
G |
6: 67,249,838 (GRCm39) |
Y244C |
probably benign |
Het |
Slc23a4 |
A |
G |
6: 34,925,396 (GRCm39) |
S219P |
|
Het |
Slc27a5 |
T |
G |
7: 12,725,247 (GRCm39) |
H400P |
probably damaging |
Het |
Slc9c1 |
C |
A |
16: 45,420,144 (GRCm39) |
D1066E |
possibly damaging |
Het |
Tmem198 |
G |
A |
1: 75,456,426 (GRCm39) |
A27T |
unknown |
Het |
Tpx2 |
A |
G |
2: 152,727,124 (GRCm39) |
T464A |
possibly damaging |
Het |
Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
Trh |
G |
A |
6: 92,219,602 (GRCm39) |
T238I |
possibly damaging |
Het |
Zbtb10 |
T |
C |
3: 9,330,295 (GRCm39) |
V551A |
probably damaging |
Het |
Zfp668 |
T |
C |
7: 127,465,658 (GRCm39) |
T509A |
probably benign |
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 |
R8883:Tap1
|
UTSW |
17 |
34,406,867 (GRCm39) |
missense |
unknown |
|
R8885:Tap1
|
UTSW |
17 |
34,408,536 (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'- ATCTACATCTCAGCTGGACTCTTG -3'
(R):5'- AGGACAGGTTTGAACAGTTCTG -3'
Sequencing Primer
(F):5'- CTGGACTCTTGTCTCTGCAGAG -3'
(R):5'- AGCTCCCATGGGAATGAGACTTC -3'
|
Posted On |
2022-03-25 |