Incidental Mutation 'R5838:Tap1'
| ID |
449765 |
| 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 |
044058-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5838 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 34412279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 164
(Q164*)
|
| 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 null
Transcript: ENSMUST00000041633
AA Change: Q467*
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: Q467*
| 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: ENSMUST00000166287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168351
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170086
AA Change: Q495*
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: Q495*
| 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 null
Transcript: ENSMUST00000171148
AA Change: Q164*
|
| SMART Domains |
Protein: ENSMUSP00000130189
Gene: ENSMUSG00000037321
AA Change: Q164*
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
G |
A |
11: 105,863,706 (GRCm39) |
V385I |
probably benign |
Het |
| Apmap |
T |
C |
2: 150,427,777 (GRCm39) |
Y315C |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,916,904 (GRCm39) |
T414I |
probably damaging |
Het |
| Cd200r1 |
C |
A |
16: 44,586,397 (GRCm39) |
A9D |
possibly damaging |
Het |
| Cdkal1 |
T |
C |
13: 29,875,669 (GRCm39) |
D183G |
probably benign |
Het |
| Clk1 |
C |
A |
1: 58,451,819 (GRCm39) |
C432F |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,143,765 (GRCm39) |
L484F |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,807,211 (GRCm39) |
E2480G |
unknown |
Het |
| Dnah5 |
A |
G |
15: 28,290,341 (GRCm39) |
I1244V |
probably benign |
Het |
| Dock3 |
G |
T |
9: 106,772,687 (GRCm39) |
P522Q |
possibly damaging |
Het |
| Drc1 |
T |
A |
5: 30,523,857 (GRCm39) |
|
probably null |
Het |
| Epas1 |
C |
T |
17: 87,131,114 (GRCm39) |
T298I |
possibly damaging |
Het |
| Epha1 |
A |
T |
6: 42,338,580 (GRCm39) |
I699N |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,040,437 (GRCm39) |
S558P |
probably damaging |
Het |
| Epn1 |
T |
A |
7: 5,100,165 (GRCm39) |
L426* |
probably null |
Het |
| Fam234b |
T |
C |
6: 135,202,265 (GRCm39) |
V329A |
probably benign |
Het |
| Fasn |
G |
T |
11: 120,706,950 (GRCm39) |
R901S |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,248,830 (GRCm39) |
M1165T |
possibly damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,893,913 (GRCm39) |
R103G |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,966,568 (GRCm39) |
D114E |
probably benign |
Het |
| Galnt10 |
A |
G |
11: 57,671,882 (GRCm39) |
K391E |
probably damaging |
Het |
| Gpr150 |
C |
A |
13: 76,204,045 (GRCm39) |
C300F |
probably benign |
Het |
| Hhipl2 |
A |
G |
1: 183,204,479 (GRCm39) |
T151A |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,347,819 (GRCm39) |
L4822M |
probably damaging |
Het |
| Ifi207 |
T |
A |
1: 173,559,953 (GRCm39) |
Q173L |
unknown |
Het |
| Inca1 |
T |
C |
11: 70,580,707 (GRCm39) |
E86G |
probably damaging |
Het |
| Iqca1 |
A |
G |
1: 90,072,667 (GRCm39) |
L71P |
probably benign |
Het |
| Kank2 |
G |
T |
9: 21,706,689 (GRCm39) |
Q110K |
probably damaging |
Het |
| Katnip |
A |
T |
7: 125,466,827 (GRCm39) |
M1361L |
possibly damaging |
Het |
| Kif13b |
A |
T |
14: 64,975,004 (GRCm39) |
M407L |
probably damaging |
Het |
| Kif5a |
A |
C |
10: 127,081,310 (GRCm39) |
I208S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,489,469 (GRCm39) |
K4490R |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,835,875 (GRCm39) |
R1352H |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,345,947 (GRCm39) |
Q2061R |
possibly damaging |
Het |
| Marcks |
A |
G |
10: 37,012,163 (GRCm39) |
S291P |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,039,231 (GRCm39) |
V254A |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,754,547 (GRCm39) |
R4683W |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,846,397 (GRCm39) |
|
probably null |
Het |
| Ndrg4 |
A |
T |
8: 96,433,421 (GRCm39) |
H134L |
probably damaging |
Het |
| Nek7 |
C |
A |
1: 138,462,101 (GRCm39) |
|
probably null |
Het |
| Nlrc3 |
C |
T |
16: 3,771,859 (GRCm39) |
S151N |
probably damaging |
Het |
| Nsl1 |
C |
A |
1: 190,802,310 (GRCm39) |
A146E |
probably benign |
Het |
| Or10a3n |
A |
T |
7: 108,493,292 (GRCm39) |
F107L |
probably benign |
Het |
| Or2y1e |
A |
C |
11: 49,218,760 (GRCm39) |
N174T |
probably damaging |
Het |
| Or52ac1 |
A |
G |
7: 104,246,104 (GRCm39) |
Y95H |
probably benign |
Het |
| Or5b120 |
T |
A |
19: 13,479,922 (GRCm39) |
Y72N |
probably damaging |
Het |
| Or6c210 |
A |
T |
10: 129,495,907 (GRCm39) |
R77S |
probably benign |
Het |
| Pde4d |
A |
C |
13: 109,876,976 (GRCm39) |
S41R |
probably damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,274,862 (GRCm39) |
L875* |
probably null |
Het |
| Pkd1 |
T |
A |
17: 24,799,186 (GRCm39) |
S2802T |
possibly damaging |
Het |
| Polr3b |
A |
G |
10: 84,510,454 (GRCm39) |
T500A |
probably benign |
Het |
| Ppp2r2c |
T |
C |
5: 37,097,531 (GRCm39) |
V239A |
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
| Reln |
T |
A |
5: 22,104,111 (GRCm39) |
I3287F |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,407,651 (GRCm39) |
D763G |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,096,396 (GRCm39) |
V534A |
probably benign |
Het |
| Slc10a4 |
T |
A |
5: 73,169,373 (GRCm39) |
C333S |
probably benign |
Het |
| Slc15a1 |
G |
A |
14: 121,722,283 (GRCm39) |
A206V |
probably damaging |
Het |
| Snx14 |
A |
G |
9: 88,273,829 (GRCm39) |
L654P |
probably damaging |
Het |
| Sowahc |
G |
A |
10: 59,059,012 (GRCm39) |
A383T |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,550,448 (GRCm39) |
D11G |
possibly damaging |
Het |
| Tbcel |
T |
A |
9: 42,327,168 (GRCm39) |
R430W |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,965,594 (GRCm39) |
|
probably null |
Het |
| Trim15 |
T |
C |
17: 37,173,732 (GRCm39) |
I259V |
probably damaging |
Het |
| Trpt1 |
T |
C |
19: 6,975,668 (GRCm39) |
S141P |
probably damaging |
Het |
| Tsc2 |
T |
A |
17: 24,832,190 (GRCm39) |
Q732L |
probably benign |
Het |
| Tstd3 |
C |
A |
4: 21,759,622 (GRCm39) |
|
probably null |
Het |
| Unc13d |
T |
C |
11: 115,955,451 (GRCm39) |
K914R |
possibly damaging |
Het |
| Unk |
A |
G |
11: 115,940,157 (GRCm39) |
E170G |
probably damaging |
Het |
| Uqcc2 |
T |
A |
17: 27,344,860 (GRCm39) |
K62* |
probably null |
Het |
| Vim |
A |
G |
2: 13,585,001 (GRCm39) |
D394G |
probably damaging |
Het |
| Wdr47 |
G |
A |
3: 108,532,052 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- AGACGGCTCACTTGCTTTC -3'
(R):5'- TTCCAGGATGCAGGGTGAAC -3'
Sequencing Primer
(F):5'- TTCGTGGTCCATCCCAGG -3'
(R):5'- TGCAGGGTGAACGTCAGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation