Incidental Mutation 'R8322:Tap1'
ID |
642044 |
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 |
067798-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8322 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34412163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 456
(E456G)
|
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 damaging
Transcript: ENSMUST00000041633
AA Change: E428G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039264 Gene: ENSMUSG00000037321 AA Change: E428G
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 damaging
Transcript: ENSMUST00000170086
AA Change: E456G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128401 Gene: ENSMUSG00000037321 AA Change: E456G
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 |
|
SMART Domains |
Protein: ENSMUSP00000130189 Gene: ENSMUSG00000037321 AA Change: E125G
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 |
|
Meta Mutation Damage Score |
0.5676 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (64/64) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,199,219 (GRCm39) |
S209G |
probably benign |
Het |
Aars1 |
T |
C |
8: 111,772,160 (GRCm39) |
L450P |
possibly damaging |
Het |
Acsbg1 |
G |
A |
9: 54,523,268 (GRCm39) |
T453M |
probably benign |
Het |
Aff3 |
A |
G |
1: 38,220,742 (GRCm39) |
S1100P |
possibly damaging |
Het |
B4galt5 |
G |
A |
2: 167,190,849 (GRCm39) |
A35V |
probably benign |
Het |
C1qtnf1 |
T |
C |
11: 118,338,683 (GRCm39) |
S118P |
probably benign |
Het |
Ceacam20 |
A |
T |
7: 19,705,628 (GRCm39) |
E206D |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,725,993 (GRCm39) |
L3066P |
probably damaging |
Het |
Cers3 |
T |
G |
7: 66,439,386 (GRCm39) |
L299R |
probably damaging |
Het |
Cfhr2 |
G |
T |
1: 139,738,696 (GRCm39) |
H288Q |
probably benign |
Het |
Cnot1 |
A |
T |
8: 96,496,472 (GRCm39) |
M278K |
probably benign |
Het |
Cnot10 |
T |
C |
9: 114,456,537 (GRCm39) |
E166G |
probably damaging |
Het |
Ctsd |
T |
A |
7: 141,939,197 (GRCm39) |
D76V |
probably damaging |
Het |
Cyp1a1 |
T |
A |
9: 57,610,003 (GRCm39) |
F472L |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,454,635 (GRCm39) |
D118E |
probably damaging |
Het |
Dusp29 |
A |
T |
14: 21,752,950 (GRCm39) |
D65E |
probably damaging |
Het |
Eif2ak3 |
C |
A |
6: 70,855,903 (GRCm39) |
R236S |
probably damaging |
Het |
Fam169a |
A |
G |
13: 97,259,260 (GRCm39) |
T439A |
probably benign |
Het |
Flg |
T |
C |
3: 93,191,639 (GRCm39) |
Y11H |
unknown |
Het |
Fn1 |
T |
A |
1: 71,667,618 (GRCm39) |
I792L |
probably benign |
Het |
Fzd7 |
T |
C |
1: 59,522,242 (GRCm39) |
S42P |
probably benign |
Het |
Gimap3 |
A |
G |
6: 48,742,370 (GRCm39) |
S187P |
possibly damaging |
Het |
Gli1 |
C |
A |
10: 127,167,477 (GRCm39) |
R592L |
probably damaging |
Het |
Glt8d2 |
A |
T |
10: 82,498,037 (GRCm39) |
I124N |
probably damaging |
Het |
Hbp1 |
C |
T |
12: 31,983,387 (GRCm39) |
D356N |
probably damaging |
Het |
Hif1a |
T |
C |
12: 73,986,373 (GRCm39) |
S367P |
probably benign |
Het |
Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
Itpr1 |
C |
A |
6: 108,365,190 (GRCm39) |
N880K |
probably benign |
Het |
Kank1 |
T |
C |
19: 25,355,842 (GRCm39) |
|
probably benign |
Het |
Kat2a |
T |
C |
11: 100,603,116 (GRCm39) |
T39A |
unknown |
Het |
Kcnk2 |
T |
A |
1: 189,072,046 (GRCm39) |
Q98L |
probably benign |
Het |
Kcnn4 |
G |
A |
7: 24,083,545 (GRCm39) |
G409S |
probably benign |
Het |
Klrb1 |
T |
A |
6: 128,690,576 (GRCm39) |
I49F |
probably damaging |
Het |
Larp4 |
G |
A |
15: 99,908,237 (GRCm39) |
V573I |
probably benign |
Het |
Lrpprc |
A |
G |
17: 85,047,496 (GRCm39) |
|
probably null |
Het |
Mybl1 |
A |
G |
1: 9,746,506 (GRCm39) |
S385P |
probably damaging |
Het |
Nup62 |
T |
C |
7: 44,478,440 (GRCm39) |
S152P |
possibly damaging |
Het |
Obi1 |
A |
T |
14: 104,717,091 (GRCm39) |
D427E |
probably damaging |
Het |
Or11a4 |
A |
G |
17: 37,536,241 (GRCm39) |
Y75C |
probably damaging |
Het |
Pcdh12 |
G |
A |
18: 38,414,630 (GRCm39) |
Q832* |
probably null |
Het |
Pcid2 |
A |
G |
8: 13,128,555 (GRCm39) |
I368T |
probably damaging |
Het |
Pcnx4 |
T |
A |
12: 72,603,437 (GRCm39) |
F492I |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,175,437 (GRCm39) |
Y464H |
|
Het |
Plekhg5 |
T |
G |
4: 152,189,201 (GRCm39) |
S260R |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,532,005 (GRCm39) |
|
probably benign |
Het |
Prr14 |
A |
T |
7: 127,072,999 (GRCm39) |
E115D |
probably benign |
Het |
Rab3gap2 |
A |
T |
1: 184,978,877 (GRCm39) |
N285Y |
probably benign |
Het |
Rhot1 |
T |
A |
11: 80,148,386 (GRCm39) |
C609S |
possibly damaging |
Het |
Rnf123 |
T |
C |
9: 107,945,706 (GRCm39) |
Q360R |
probably benign |
Het |
Rrp12 |
T |
C |
19: 41,868,658 (GRCm39) |
T562A |
probably benign |
Het |
Rundc1 |
G |
A |
11: 101,322,992 (GRCm39) |
G317D |
probably benign |
Het |
Rusf1 |
C |
T |
7: 127,889,786 (GRCm39) |
R1H |
probably damaging |
Het |
Slc14a1 |
A |
T |
18: 78,145,656 (GRCm39) |
I426N |
possibly damaging |
Het |
Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
Slc45a3 |
A |
G |
1: 131,905,523 (GRCm39) |
D182G |
probably damaging |
Het |
Sos1 |
A |
T |
17: 80,715,728 (GRCm39) |
F1010I |
probably damaging |
Het |
Tha1 |
A |
T |
11: 117,759,493 (GRCm39) |
V332E |
probably damaging |
Het |
Tmem18 |
T |
A |
12: 30,638,517 (GRCm39) |
I93N |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,711,767 (GRCm39) |
F2664S |
probably damaging |
Het |
Tpm3 |
T |
A |
3: 89,981,011 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
A |
G |
16: 94,255,351 (GRCm39) |
E1615G |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,540,747 (GRCm39) |
T485A |
probably benign |
Het |
Vmn2r92 |
A |
G |
17: 18,386,886 (GRCm39) |
Y75C |
probably damaging |
Het |
Zfp169 |
T |
C |
13: 48,644,575 (GRCm39) |
D184G |
unknown |
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 |
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'- AGTTCACCCAGGCTGTTCAG -3'
(R):5'- TTCCAGGATGCAGGGTGAAC -3'
Sequencing Primer
(F):5'- ACCCAGGCTGTTCAGGTGAG -3'
(R):5'- TGCAGGGTGAACGTCAGC -3'
|
Posted On |
2020-07-28 |