Incidental Mutation 'R1952:Tap1'
| ID |
217418 |
| 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 |
039966-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1952 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 34412481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 506
(P506R)
|
| 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: P478R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: P478R
| 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 damaging
Transcript: ENSMUST00000170086
AA Change: P506R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: P506R
| 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: P175R
|
| SMART Domains |
Protein: ENSMUSP00000130189
Gene: ENSMUSG00000037321
AA Change: P175R
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
A |
G |
14: 32,110,293 (GRCm39) |
V6A |
possibly damaging |
Het |
| Accsl |
G |
T |
2: 93,689,778 (GRCm39) |
H376Q |
probably damaging |
Het |
| Adgrg1 |
T |
C |
8: 95,735,119 (GRCm39) |
|
probably null |
Het |
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,338,566 (GRCm39) |
D128G |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,409,329 (GRCm39) |
Y301C |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,654,789 (GRCm39) |
T804A |
probably damaging |
Het |
| Capn11 |
A |
T |
17: 45,953,885 (GRCm39) |
W154R |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,683,432 (GRCm39) |
T201S |
probably damaging |
Het |
| Cers4 |
G |
A |
8: 4,573,461 (GRCm39) |
W319* |
probably null |
Het |
| Col27a1 |
T |
A |
4: 63,202,130 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,972 (GRCm39) |
Y282C |
probably benign |
Het |
| Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
| Dusp7 |
T |
A |
9: 106,248,028 (GRCm39) |
C219S |
probably benign |
Het |
| Epha7 |
A |
G |
4: 28,950,474 (GRCm39) |
N759S |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,963 (GRCm39) |
V3413A |
probably benign |
Het |
| Gls2 |
A |
G |
10: 128,045,231 (GRCm39) |
H576R |
probably benign |
Het |
| Gm4884 |
G |
A |
7: 40,693,671 (GRCm39) |
V547M |
probably benign |
Het |
| Hap1 |
A |
G |
11: 100,243,105 (GRCm39) |
V174A |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,269,300 (GRCm39) |
S838P |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,221,150 (GRCm39) |
I742V |
probably benign |
Het |
| Katnal2 |
G |
T |
18: 77,067,707 (GRCm39) |
S411R |
probably benign |
Het |
| Lrp1 |
A |
C |
10: 127,403,300 (GRCm39) |
V2091G |
probably damaging |
Het |
| Mettl21c |
A |
T |
1: 44,056,368 (GRCm39) |
D20E |
probably damaging |
Het |
| Mib1 |
A |
T |
18: 10,812,077 (GRCm39) |
E991D |
possibly damaging |
Het |
| Mip |
T |
C |
10: 128,061,772 (GRCm39) |
S8P |
possibly damaging |
Het |
| Mllt6 |
T |
C |
11: 97,568,048 (GRCm39) |
S826P |
probably damaging |
Het |
| Mlst8 |
AT |
ATT |
17: 24,696,987 (GRCm39) |
|
probably null |
Het |
| Myrfl |
C |
T |
10: 116,658,716 (GRCm39) |
V414I |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,273,999 (GRCm39) |
V409A |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,077,700 (GRCm39) |
Q1035L |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,490,464 (GRCm39) |
D421V |
probably damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,523,770 (GRCm39) |
V570A |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,895,589 (GRCm39) |
E157V |
probably null |
Het |
| Or8g24 |
T |
A |
9: 38,989,580 (GRCm39) |
I154F |
probably benign |
Het |
| Or8g37 |
T |
C |
9: 39,731,363 (GRCm39) |
S143P |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,300,624 (GRCm39) |
D21G |
probably damaging |
Het |
| Pax2 |
A |
G |
19: 44,777,271 (GRCm39) |
T155A |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,310,546 (GRCm39) |
S481T |
probably damaging |
Het |
| Prkab2 |
T |
C |
3: 97,573,943 (GRCm39) |
V194A |
probably benign |
Het |
| Prl3a1 |
G |
A |
13: 27,454,136 (GRCm39) |
G38E |
possibly damaging |
Het |
| Psmb8 |
T |
C |
17: 34,419,884 (GRCm39) |
V246A |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,203,308 (GRCm39) |
V490E |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
| Qars1 |
G |
A |
9: 108,390,380 (GRCm39) |
R427H |
probably benign |
Het |
| R3hdml |
T |
C |
2: 163,340,216 (GRCm39) |
F128L |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,038,471 (GRCm39) |
M541V |
probably benign |
Het |
| Rhbdf1 |
G |
A |
11: 32,164,277 (GRCm39) |
R234* |
probably null |
Het |
| Rufy1 |
A |
T |
11: 50,297,233 (GRCm39) |
D406E |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,047,173 (GRCm39) |
L683Q |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,938,229 (GRCm39) |
T132A |
probably damaging |
Het |
| Sbspon |
A |
G |
1: 15,930,519 (GRCm39) |
S156P |
probably damaging |
Het |
| Shb |
A |
T |
4: 45,458,347 (GRCm39) |
|
probably null |
Het |
| She |
A |
G |
3: 89,756,792 (GRCm39) |
K282R |
possibly damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,152,482 (GRCm39) |
L85P |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,841,578 (GRCm39) |
H475L |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,957,920 (GRCm39) |
V575I |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,184 (GRCm39) |
C833S |
possibly damaging |
Het |
| Speer2 |
A |
C |
16: 69,654,052 (GRCm39) |
N232K |
probably damaging |
Het |
| Syncrip |
A |
T |
9: 88,358,927 (GRCm39) |
M194K |
probably damaging |
Het |
| Sytl3 |
A |
C |
17: 6,995,732 (GRCm39) |
T171P |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,925,747 (GRCm39) |
Y114N |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,122,381 (GRCm39) |
Y67H |
probably benign |
Het |
| Tle6 |
T |
C |
10: 81,431,319 (GRCm39) |
D212G |
possibly damaging |
Het |
| Trim80 |
G |
T |
11: 115,332,155 (GRCm39) |
E116* |
probably null |
Het |
| Ttll4 |
A |
G |
1: 74,726,718 (GRCm39) |
R745G |
probably damaging |
Het |
| Vdac2 |
A |
T |
14: 21,887,947 (GRCm39) |
I85F |
possibly damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,309 (GRCm39) |
R88G |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,232,052 (GRCm39) |
S821P |
possibly damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,507,647 (GRCm39) |
Y213C |
probably damaging |
Het |
| Wdr55 |
C |
A |
18: 36,893,437 (GRCm39) |
P33Q |
probably damaging |
Het |
| Yrdc |
C |
T |
4: 124,745,739 (GRCm39) |
A32V |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,030,851 (GRCm39) |
K1030* |
probably null |
Het |
| Zfp618 |
T |
A |
4: 63,050,555 (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 |
|
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 |
|
|
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'- AGGTACTGTCTACCCATCCC -3'
(R):5'- CTGCAAGAGTTTTCGTGGAG -3'
Sequencing Primer
(F):5'- GGTACTGTCTACCCATCCCTTTTATG -3'
(R):5'- GAGAATTGTCTCTTGGCTTGATCTCC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation