Incidental Mutation 'IGL03278:Tap1'
| ID | 415490 |
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| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Tap1
|
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| Ensembl Gene |
ENSMUSG00000037321 |
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| Gene Name | transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
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| Synonyms | ABC transporter, MHC, 1; ABC17; antigen peptide transporter (APT1); ATP-binding cassette, subfamily B, member 2 (Abcb2); ATP-binding cassette, sub-family B (MDR/TAP), member 2; ATP-binding cassette transporter, major histocompatibility complex, 1; ATP dependent transport protein family member; histocompatibility antigen modifier 1 (Ham-1, Ham1); MTP1; peptide supply factor 1 (PSF-1); peptide transporter PSF1; RING4; transporter 1, ABC; transporter 1, ATP-binding cassette, sub-family B; transporter, ABC, MHC, 1; transporter, ATP-binding cassette, major histocompatibility complex, 1; transporter associated with antigen processing 1 (Tap-1, TAP); Y3 |
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| Accession Numbers | Genbank: NM_013683; MGI: 98483 |
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| Is this an essential gene? |
Non essential (E-score: 0.000)
|
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| Stock # | IGL03278
|
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| Quality Score | |
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| Status |
|
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| Chromosome | 17 |
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| Chromosomal Location | 34187553-34197225 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
A to T
at 34191483 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Lysine to Methionine
at position 378
(K378M)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000128401
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000173831]
[ENSMUST00000174576]
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041633
AA Change: K378M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: K378M
| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114230
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166287
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166582
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166853
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168351
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170086
AA Change: K378M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: K378M
| 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 |
|
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| Predicted Effect |
unknown
Transcript: ENSMUST00000171148
AA Change: K57M
|
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| SMART Domains |
Protein: ENSMUSP00000130189
Gene: ENSMUSG00000037321
AA Change: K57M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
1 |
114 |
1.5e-24 |
PFAM |
|
Pfam:ABC_tran
|
167 |
196 |
1e-7 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000173831
|
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| SMART Domains |
Protein: ENSMUSP00000134120
Gene: ENSMUSG00000096727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
1 |
64 |
2.3e-17 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000174576
|
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| SMART Domains |
Protein: ENSMUSP00000133499
Gene: ENSMUSG00000096727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
17 |
198 |
1.2e-45 |
PFAM |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179593
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | All alleles( 2) : Targeted, knock-out( 2) |
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| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,158,825 |
|
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,562,001 |
D676G |
possibly damaging |
Het |
| Antxr1 |
A |
G |
6: 87,204,457 |
|
probably benign |
Het |
| Ccdc134 |
C |
T |
15: 82,131,481 |
A54V |
possibly damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,242,510 |
I465F |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,370,702 |
S79T |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,709,452 |
E1790G |
probably benign |
Het |
| Cops8 |
C |
A |
1: 90,604,365 |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,496,965 |
T2640A |
probably benign |
Het |
| F2 |
G |
A |
2: 91,635,182 |
A86V |
probably benign |
Het |
| Fam160a2 |
C |
A |
7: 105,385,124 |
M433I |
possibly damaging |
Het |
| Gabrb1 |
T |
G |
5: 71,869,596 |
D113E |
probably damaging |
Het |
| Git2 |
C |
A |
5: 114,745,579 |
|
probably benign |
Het |
| Git2 |
A |
T |
5: 114,745,580 |
|
probably null |
Het |
| Gm4847 |
A |
T |
1: 166,635,036 |
I295N |
probably benign |
Het |
| H2-M10.6 |
C |
A |
17: 36,813,823 |
H211N |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,656,762 |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 58,044,056 |
|
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,116,446 |
E634G |
possibly damaging |
Het |
| Nanog |
A |
G |
6: 122,711,745 |
Y95C |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,426,832 |
A559T |
possibly damaging |
Het |
| Nfe2l1 |
C |
A |
11: 96,822,192 |
R55L |
probably benign |
Het |
| Olfr161 |
C |
T |
16: 3,593,107 |
A237V |
possibly damaging |
Het |
| Pkmyt1 |
A |
G |
17: 23,734,247 |
E259G |
probably damaging |
Het |
| Pld4 |
A |
G |
12: 112,766,731 |
N247S |
probably damaging |
Het |
| Prdm4 |
A |
T |
10: 85,907,758 |
M211K |
probably damaging |
Het |
| Rab37 |
A |
C |
11: 115,159,691 |
I121L |
possibly damaging |
Het |
| Rabl6 |
T |
C |
2: 25,583,822 |
|
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,232,047 |
V154E |
probably benign |
Het |
| Slc38a9 |
T |
G |
13: 112,689,518 |
|
probably benign |
Het |
| Sptlc3 |
G |
A |
2: 139,589,659 |
G367D |
probably damaging |
Het |
| Stk24 |
T |
C |
14: 121,302,770 |
K139R |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,733,568 |
|
probably null |
Het |
| Tfr2 |
A |
T |
5: 137,571,036 |
R10* |
probably null |
Het |
| Trim38 |
A |
G |
13: 23,790,996 |
D306G |
possibly damaging |
Het |
| Ttc6 |
A |
T |
12: 57,622,026 |
K418I |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,849,116 |
L3731Q |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,455,100 |
Y120F |
probably damaging |
Het |
| Vps35 |
A |
T |
8: 85,294,961 |
|
probably benign |
Het |
|
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| Other mutations in Tap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
rose
|
APN |
17 |
34194940 |
missense |
probably damaging |
1.00 |
|
IGL01294:Tap1
|
APN |
17 |
34194045 |
critical splice donor site |
probably null |
|
|
IGL01776:Tap1
|
APN |
17 |
34193128 |
missense |
possibly damaging |
0.82 |
|
IGL01787:Tap1
|
APN |
17 |
34196604 |
missense |
probably benign |
0.21 |
|
IGL02246:Tap1
|
APN |
17 |
34193989 |
missense |
probably benign |
0.01 |
|
IGL02996:Tap1
|
APN |
17 |
34191396 |
missense |
probably damaging |
1.00 |
|
joplin
|
UTSW |
17 |
34193258 |
missense |
probably damaging |
1.00 |
|
rose2
|
UTSW |
17 |
34194941 |
missense |
probably damaging |
1.00 |
|
PIT4802001:Tap1
|
UTSW |
17 |
34193191 |
missense |
probably damaging |
1.00 |
|
R1566:Tap1
|
UTSW |
17 |
34189546 |
missense |
probably benign |
0.00 |
|
R1795:Tap1
|
UTSW |
17 |
34194925 |
missense |
probably benign |
0.21 |
|
R1837:Tap1
|
UTSW |
17 |
34188109 |
missense |
possibly damaging |
0.50 |
|
R1839:Tap1
|
UTSW |
17 |
34188109 |
missense |
possibly damaging |
0.50 |
|
R1892:Tap1
|
UTSW |
17 |
34194941 |
missense |
probably damaging |
1.00 |
|
R1893:Tap1
|
UTSW |
17 |
34194941 |
missense |
probably damaging |
1.00 |
|
R1952:Tap1
|
UTSW |
17 |
34193507 |
missense |
probably damaging |
1.00 |
|
R2163:Tap1
|
UTSW |
17 |
34189473 |
unclassified |
probably null |
|
|
R3744:Tap1
|
UTSW |
17 |
34193612 |
missense |
probably damaging |
1.00 |
|
R3883:Tap1
|
UTSW |
17 |
34193258 |
missense |
probably damaging |
1.00 |
|
R3975:Tap1
|
UTSW |
17 |
34189567 |
unclassified |
probably benign |
|
|
R4418:Tap1
|
UTSW |
17 |
34188379 |
unclassified |
probably null |
|
|
R4779:Tap1
|
UTSW |
17 |
34193891 |
missense |
probably damaging |
1.00 |
|
R4913:Tap1
|
UTSW |
17 |
34193494 |
missense |
possibly damaging |
0.94 |
|
R5715:Tap1
|
UTSW |
17 |
34192894 |
nonsense |
probably null |
|
|
R5838:Tap1
|
UTSW |
17 |
34193305 |
nonsense |
probably null |
|
|
R6248:Tap1
|
UTSW |
17 |
34193177 |
missense |
probably damaging |
0.99 |
|
R6710:Tap1
|
UTSW |
17 |
34188109 |
missense |
possibly damaging |
0.50 |
|
R6881:Tap1
|
UTSW |
17 |
34188034 |
missense |
probably damaging |
0.99 |
|
R7437:Tap1
|
UTSW |
17 |
34190642 |
nonsense |
probably null |
|
|
R7514:Tap1
|
UTSW |
17 |
34196665 |
missense |
probably damaging |
1.00 |
|
R7618:Tap1
|
UTSW |
17 |
34188238 |
missense |
possibly damaging |
0.94 |
|
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| Posted On | 2016-08-02 |
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