Incidental Mutation 'R1837:Tap1'
| ID |
205444 |
| 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 |
039864-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1837 (G1)
|
| Quality Score |
86 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34407083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 77
(A77V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000173831]
[ENSMUST00000174576]
[ENSMUST00000171321]
|
| AlphaFold |
P21958 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041633
AA Change: A77V
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: A77V
| 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 |
possibly damaging
Transcript: ENSMUST00000170086
AA Change: A77V
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: A77V
| 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: ENSMUST00000178857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179593
|
| 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 |
|
| 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: ENSMUST00000171321
|
| Meta Mutation Damage Score |
0.0881 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.6%
|
| Validation Efficiency |
99% (86/87) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl10 |
G |
T |
2: 154,394,962 (GRCm39) |
G305W |
probably damaging |
Het |
| Actr3b |
A |
T |
5: 26,030,157 (GRCm39) |
T74S |
probably benign |
Het |
| Add2 |
A |
G |
6: 86,095,540 (GRCm39) |
E652G |
probably damaging |
Het |
| Alg9 |
T |
A |
9: 50,717,615 (GRCm39) |
V83D |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,721,643 (GRCm39) |
Y244* |
probably null |
Het |
| BB014433 |
C |
G |
8: 15,092,629 (GRCm39) |
V75L |
unknown |
Het |
| Bcr |
A |
G |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
| Begain |
G |
A |
12: 109,001,249 (GRCm39) |
|
probably benign |
Het |
| Bzw1 |
A |
G |
1: 58,439,277 (GRCm39) |
K67E |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,842,009 (GRCm39) |
E1474G |
probably benign |
Het |
| Cdc73 |
T |
A |
1: 143,543,395 (GRCm39) |
T314S |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,728,813 (GRCm39) |
T31A |
probably damaging |
Het |
| Cfap58 |
G |
A |
19: 48,017,578 (GRCm39) |
E813K |
probably damaging |
Het |
| Clstn2 |
C |
A |
9: 97,465,593 (GRCm39) |
A133S |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,245,891 (GRCm39) |
D465V |
unknown |
Het |
| Col2a1 |
C |
T |
15: 97,894,522 (GRCm39) |
|
probably benign |
Het |
| Dab2 |
A |
G |
15: 6,365,957 (GRCm39) |
|
probably benign |
Het |
| Eme1 |
T |
C |
11: 94,536,787 (GRCm39) |
D464G |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,699,802 (GRCm39) |
|
probably null |
Het |
| Ern1 |
C |
A |
11: 106,349,783 (GRCm39) |
L44F |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,564,816 (GRCm39) |
S188R |
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,610,639 (GRCm39) |
|
probably benign |
Het |
| Fmo6 |
T |
C |
1: 162,750,379 (GRCm39) |
N226D |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,415,128 (GRCm39) |
D214G |
probably benign |
Het |
| Gm14226 |
A |
G |
2: 154,866,930 (GRCm39) |
I296V |
probably benign |
Het |
| Gm9915 |
A |
T |
1: 42,269,847 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
T |
C |
17: 79,128,180 (GRCm39) |
D485G |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,082 (GRCm39) |
I2785N |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,976,367 (GRCm39) |
T723M |
probably benign |
Het |
| Hydin |
C |
A |
8: 111,296,257 (GRCm39) |
H3595Q |
probably benign |
Het |
| Il6ra |
T |
C |
3: 89,797,579 (GRCm39) |
D96G |
probably benign |
Het |
| Kif5a |
G |
A |
10: 127,072,684 (GRCm39) |
Q702* |
probably null |
Het |
| Klhdc7a |
G |
T |
4: 139,694,381 (GRCm39) |
P189T |
probably benign |
Het |
| Krt7 |
A |
G |
15: 101,317,463 (GRCm39) |
D252G |
probably benign |
Het |
| Lad1 |
C |
A |
1: 135,757,444 (GRCm39) |
D394E |
probably benign |
Het |
| Lhx8 |
A |
T |
3: 154,033,692 (GRCm39) |
C38S |
possibly damaging |
Het |
| Lta4h |
C |
T |
10: 93,305,037 (GRCm39) |
T280M |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,825 (GRCm39) |
T163S |
probably damaging |
Het |
| Med1 |
G |
T |
11: 98,060,238 (GRCm39) |
D230E |
probably damaging |
Het |
| Mmp1b |
A |
T |
9: 7,386,409 (GRCm39) |
F171I |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,657,571 (GRCm39) |
V801A |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,639,273 (GRCm39) |
E135G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,360,823 (GRCm39) |
M1378K |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,467,604 (GRCm39) |
Q286L |
possibly damaging |
Het |
| Ndor1 |
C |
T |
2: 25,138,408 (GRCm39) |
G391R |
probably damaging |
Het |
| Nefl |
C |
T |
14: 68,324,075 (GRCm39) |
R438C |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,439,742 (GRCm39) |
V440I |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,343,296 (GRCm39) |
L1959Q |
probably damaging |
Het |
| Noto |
A |
G |
6: 85,401,159 (GRCm39) |
T63A |
probably benign |
Het |
| Oc90 |
G |
A |
15: 65,761,529 (GRCm39) |
T163M |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,114 (GRCm39) |
M287K |
probably benign |
Het |
| Or4c114 |
A |
T |
2: 88,905,176 (GRCm39) |
Y86* |
probably null |
Het |
| Or5an10 |
A |
G |
19: 12,275,740 (GRCm39) |
V252A |
probably damaging |
Het |
| Pdpr |
C |
A |
8: 111,861,366 (GRCm39) |
P787T |
probably damaging |
Het |
| Phlda1 |
A |
G |
10: 111,343,092 (GRCm39) |
Q276R |
probably benign |
Het |
| Ptpn21 |
T |
G |
12: 98,699,885 (GRCm39) |
K10Q |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,177,531 (GRCm39) |
E1364G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,795,484 (GRCm39) |
W237R |
probably damaging |
Het |
| Rai1 |
A |
T |
11: 60,080,224 (GRCm39) |
K1429N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,627,438 (GRCm39) |
I1027M |
probably damaging |
Het |
| Rit1 |
C |
G |
3: 88,636,477 (GRCm39) |
T127S |
probably damaging |
Het |
| Rpap1 |
A |
C |
2: 119,600,366 (GRCm39) |
|
probably null |
Het |
| Senp7 |
T |
A |
16: 55,978,879 (GRCm39) |
C471S |
probably benign |
Het |
| Slc16a14 |
A |
G |
1: 84,890,120 (GRCm39) |
V395A |
probably benign |
Het |
| Slc45a1 |
C |
T |
4: 150,722,916 (GRCm39) |
G323S |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,014,434 (GRCm39) |
E3208D |
probably damaging |
Het |
| Ticam1 |
T |
C |
17: 56,577,799 (GRCm39) |
E432G |
possibly damaging |
Het |
| Tmem192 |
C |
A |
8: 65,416,992 (GRCm39) |
|
probably benign |
Het |
| Trub1 |
T |
C |
19: 57,441,461 (GRCm39) |
V28A |
probably benign |
Het |
| Ttc21b |
A |
T |
2: 66,028,106 (GRCm39) |
L1121H |
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,735,764 (GRCm39) |
D290G |
probably damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,247 (GRCm39) |
G683D |
probably damaging |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,291 (GRCm39) |
F255I |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,886 (GRCm39) |
I289F |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,155,878 (GRCm39) |
L514H |
probably damaging |
Het |
| Wdr48 |
T |
G |
9: 119,734,482 (GRCm39) |
S134A |
probably damaging |
Het |
| Yap1 |
A |
T |
9: 7,962,350 (GRCm39) |
Y139N |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,076,107 (GRCm39) |
V486A |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,569,048 (GRCm39) |
T679A |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,810,264 (GRCm39) |
S927P |
probably damaging |
Het |
| Zfp324 |
C |
T |
7: 12,704,156 (GRCm39) |
T115I |
probably benign |
Het |
| Zfp523 |
T |
A |
17: 28,413,967 (GRCm39) |
I34N |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,070,247 (GRCm39) |
C551S |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,590 (GRCm39) |
H205R |
probably damaging |
Het |
| Zfp974 |
G |
A |
7: 27,609,781 (GRCm39) |
P648L |
possibly 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 |
|
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 |
|
|
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'- CAGCACTTCTAGTCAGCTCCAC -3'
(R):5'- TCTTCTTAGGGCCCAGGAAG -3'
Sequencing Primer
(F):5'- AGACTCTGGACAGCTCACG -3'
(R):5'- ACAGCATGTCTCCAGCGTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation