Incidental Mutation 'IGL03278:Tap1'
ID | 415490 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tap1
|
Ensembl Gene |
ENSMUSG00000037321 |
Gene Name | transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
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 |
Accession Numbers | Genbank: NM_013683; MGI: 98483 |
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | IGL03278
|
Quality Score | |
Status |
|
Chromosome | 17 |
Chromosomal Location | 34187553-34197225 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to T
at 34191483 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 378
(K378M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128401
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000173831]
[ENSMUST00000174576]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041633
AA Change: K378M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 |
|
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 |
probably damaging
Transcript: ENSMUST00000170086
AA Change: K378M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000171148
AA Change: K57M
|
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 |
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179593
|
Coding Region Coverage |
|
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: 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 |
|
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 |
entertainer
|
UTSW |
17 |
34193319 |
splice site |
probably null |
|
joplin
|
UTSW |
17 |
34193258 |
missense |
probably damaging |
1.00 |
ragtime
|
UTSW |
17 |
34190642 |
nonsense |
probably null |
|
rose2
|
UTSW |
17 |
34194941 |
missense |
probably damaging |
1.00 |
Tapestry
|
UTSW |
17 |
34193189 |
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 |
splice site |
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 |
splice site |
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 |
R7968:Tap1
|
UTSW |
17 |
34194912 |
missense |
probably damaging |
0.99 |
R8115:Tap1
|
UTSW |
17 |
34193319 |
splice site |
probably null |
|
R8146:Tap1
|
UTSW |
17 |
34189232 |
missense |
probably damaging |
0.98 |
R8322:Tap1
|
UTSW |
17 |
34193189 |
missense |
probably damaging |
1.00 |
R8539:Tap1
|
UTSW |
17 |
34189435 |
missense |
probably benign |
|
|
Posted On | 2016-08-02 |