Incidental Mutation 'R3975:Tap1'
| ID |
312619 |
| 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 |
040939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3975 (G1)
|
| Quality Score |
164 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 34408541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000174576]
[ENSMUST00000173831]
|
| AlphaFold |
P21958 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041633
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
| 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 benign
Transcript: ENSMUST00000170086
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
| 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 |
noncoding transcript
Transcript: ENSMUST00000179593
|
| 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 |
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: ENSMUST00000171148
|
| SMART Domains |
Protein: ENSMUSP00000130189
Gene: ENSMUSG00000037321
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
1 |
114 |
1.5e-24 |
PFAM |
|
Pfam:ABC_tran
|
167 |
196 |
1e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (59/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
A |
1: 63,586,888 (GRCm39) |
Y416* |
probably null |
Het |
| Akr1b10 |
G |
T |
6: 34,369,431 (GRCm39) |
|
probably null |
Het |
| Arap2 |
G |
T |
5: 62,906,237 (GRCm39) |
P261T |
possibly damaging |
Het |
| Bckdha |
C |
A |
7: 25,330,858 (GRCm39) |
D53Y |
probably damaging |
Het |
| Bfsp2 |
A |
G |
9: 103,357,271 (GRCm39) |
V52A |
probably benign |
Het |
| Bola3 |
T |
C |
6: 83,328,249 (GRCm39) |
L45P |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,255,134 (GRCm39) |
|
probably null |
Het |
| Ccn6 |
C |
G |
10: 39,031,094 (GRCm39) |
C143S |
probably damaging |
Het |
| Ceacam16 |
C |
A |
7: 19,587,537 (GRCm39) |
Q410H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,940,986 (GRCm39) |
|
probably null |
Het |
| Cenpe |
T |
C |
3: 134,944,233 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
T |
3: 144,738,400 (GRCm39) |
V36D |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,948,812 (GRCm39) |
S1155T |
probably benign |
Het |
| Crb2 |
C |
A |
2: 37,683,680 (GRCm39) |
P1061T |
possibly damaging |
Het |
| Crot |
T |
C |
5: 9,027,541 (GRCm39) |
T264A |
probably benign |
Het |
| Cyp51 |
C |
T |
5: 4,141,877 (GRCm39) |
G346S |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,098,975 (GRCm39) |
S2027P |
possibly damaging |
Het |
| Fbh1 |
T |
C |
2: 11,772,021 (GRCm39) |
H220R |
possibly damaging |
Het |
| Gdf2 |
T |
A |
14: 33,666,791 (GRCm39) |
V171D |
probably damaging |
Het |
| Golgb1 |
T |
G |
16: 36,738,933 (GRCm39) |
V2424G |
probably damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,428,182 (GRCm39) |
|
probably null |
Het |
| Gpx6 |
C |
A |
13: 21,501,828 (GRCm39) |
S150Y |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,522,247 (GRCm39) |
N672S |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 24,053,815 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
C |
3: 86,258,562 (GRCm39) |
F1350L |
probably damaging |
Het |
| Nat8f4 |
A |
G |
6: 85,878,052 (GRCm39) |
V157A |
possibly damaging |
Het |
| Niban1 |
T |
C |
1: 151,525,086 (GRCm39) |
Y164H |
probably damaging |
Het |
| Nt5dc2 |
T |
C |
14: 30,860,832 (GRCm39) |
S439P |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,276,992 (GRCm39) |
R234G |
probably damaging |
Het |
| Or2n1 |
A |
G |
17: 38,486,386 (GRCm39) |
N137S |
probably benign |
Het |
| Or5t18 |
G |
A |
2: 86,636,804 (GRCm39) |
P180S |
possibly damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,887 (GRCm39) |
H65L |
probably damaging |
Het |
| Orm3 |
A |
T |
4: 63,274,395 (GRCm39) |
|
probably null |
Het |
| Otof |
A |
G |
5: 30,528,056 (GRCm39) |
L1929P |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,069,164 (GRCm39) |
C111F |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,737,374 (GRCm39) |
M905K |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
| Rara |
T |
G |
11: 98,861,395 (GRCm39) |
I236S |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,200,364 (GRCm39) |
S1379T |
possibly damaging |
Het |
| Rnps1-ps |
A |
T |
6: 7,983,149 (GRCm39) |
|
noncoding transcript |
Het |
| Rp1l1 |
T |
A |
14: 64,267,758 (GRCm39) |
Y1115N |
probably damaging |
Het |
| Rpe65 |
A |
T |
3: 159,310,222 (GRCm39) |
N135I |
probably damaging |
Het |
| Rps6 |
A |
G |
4: 86,775,050 (GRCm39) |
V18A |
probably benign |
Het |
| Scrn3 |
T |
C |
2: 73,166,121 (GRCm39) |
S385P |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,850,968 (GRCm39) |
T577A |
probably damaging |
Het |
| Slx1b |
G |
A |
7: 126,290,979 (GRCm39) |
L239F |
probably damaging |
Het |
| Smad4 |
G |
T |
18: 73,810,807 (GRCm39) |
T59K |
possibly damaging |
Het |
| Smad6 |
A |
G |
9: 63,928,212 (GRCm39) |
V32A |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,324,075 (GRCm39) |
F73L |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,225,747 (GRCm39) |
|
probably null |
Het |
| Svbp |
T |
A |
4: 119,053,090 (GRCm39) |
F32I |
probably benign |
Het |
| Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
| Thrb |
A |
G |
14: 18,033,456 (GRCm38) |
I406M |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,706,997 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
C |
A |
17: 31,203,763 (GRCm39) |
Y525* |
probably null |
Het |
| Vmn2r70 |
C |
T |
7: 85,208,540 (GRCm39) |
V646I |
probably benign |
Het |
| Wipf1 |
C |
T |
2: 73,267,513 (GRCm39) |
G295D |
probably benign |
Het |
| Zim1 |
A |
T |
7: 6,680,129 (GRCm39) |
H511Q |
probably damaging |
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 |
|
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'- ACAACTGATCCTCCCGTGTC -3'
(R):5'- CTGCTTCATATGGGGAACAATG -3'
Sequencing Primer
(F):5'- GTGTCTCTGACTCTAGCACAGCG -3'
(R):5'- CCCCATCCATATGGTTCTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation