Incidental Mutation 'R1566:Tap1'
| ID |
175309 |
| 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 |
039605-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1566 (G1)
|
| Quality Score |
192 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34408520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 253
(L253Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000174576]
[ENSMUST00000173831]
|
| AlphaFold |
P21958 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041633
AA Change: L253Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: L253Q
| 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
AA Change: L253Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: L253Q
| 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: 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: ENSMUST00000173831
|
| SMART Domains |
Protein: ENSMUSP00000134120
Gene: ENSMUSG00000096727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
1 |
64 |
2.3e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
A |
11: 109,679,632 (GRCm39) |
I247F |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,888,714 (GRCm39) |
N119S |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,552,904 (GRCm39) |
D721G |
probably benign |
Het |
| Ap3m2 |
C |
T |
8: 23,293,967 (GRCm39) |
V28M |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,832,620 (GRCm39) |
T32A |
possibly damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,467 (GRCm39) |
R242* |
probably null |
Het |
| Bsn |
G |
A |
9: 108,003,184 (GRCm39) |
T407I |
probably benign |
Het |
| Capn3 |
A |
T |
2: 120,333,474 (GRCm39) |
R627S |
possibly damaging |
Het |
| Car13 |
G |
A |
3: 14,715,758 (GRCm39) |
R92Q |
probably benign |
Het |
| Clcn1 |
T |
C |
6: 42,268,374 (GRCm39) |
I149T |
possibly damaging |
Het |
| Col1a2 |
G |
T |
6: 4,523,613 (GRCm39) |
G514V |
probably damaging |
Het |
| Ctsw |
C |
A |
19: 5,515,445 (GRCm39) |
C347F |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Eif1ad8 |
A |
T |
12: 87,564,001 (GRCm39) |
H112L |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,438,151 (GRCm39) |
V97D |
probably damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,363,879 (GRCm39) |
E796G |
probably benign |
Het |
| Gdnf |
A |
G |
15: 7,863,895 (GRCm39) |
K102R |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,792,166 (GRCm39) |
E618G |
probably damaging |
Het |
| Gmnc |
T |
C |
16: 26,782,689 (GRCm39) |
D22G |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,761,829 (GRCm39) |
D517G |
possibly damaging |
Het |
| Gsta1 |
A |
T |
9: 78,149,741 (GRCm39) |
K185* |
probably null |
Het |
| Ift88 |
A |
G |
14: 57,678,468 (GRCm39) |
D160G |
probably benign |
Het |
| Intu |
T |
A |
3: 40,647,008 (GRCm39) |
I627N |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,566,974 (GRCm39) |
F101L |
probably damaging |
Het |
| Kars1 |
C |
T |
8: 112,724,290 (GRCm39) |
V475I |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Klra7 |
A |
G |
6: 130,208,564 (GRCm39) |
V6A |
probably damaging |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,626 (GRCm39) |
S114P |
unknown |
Het |
| Ldlrad4 |
T |
C |
18: 68,383,669 (GRCm39) |
S122P |
probably benign |
Het |
| Lig4 |
C |
A |
8: 10,023,650 (GRCm39) |
L43F |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 131,986,917 (GRCm39) |
D137G |
probably damaging |
Het |
| Mmel1 |
C |
T |
4: 154,968,110 (GRCm39) |
R149C |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,355,948 (GRCm39) |
H608L |
probably benign |
Het |
| Mrgpra6 |
G |
A |
7: 46,838,652 (GRCm39) |
T182I |
probably benign |
Het |
| Nat8l |
C |
A |
5: 34,158,200 (GRCm39) |
N203K |
probably benign |
Het |
| Nin |
A |
T |
12: 70,101,253 (GRCm39) |
V448E |
probably damaging |
Het |
| Or10a4 |
T |
G |
7: 106,696,759 (GRCm39) |
F29C |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,077 (GRCm39) |
M139L |
possibly damaging |
Het |
| Or5k15 |
T |
A |
16: 58,709,903 (GRCm39) |
I227F |
probably damaging |
Het |
| Or8k21 |
G |
A |
2: 86,145,129 (GRCm39) |
T167I |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,064,978 (GRCm39) |
L759P |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,743,810 (GRCm39) |
N1152K |
probably damaging |
Het |
| Pitpnm3 |
A |
T |
11: 71,949,785 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
T |
C |
12: 76,618,839 (GRCm39) |
M497T |
possibly damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,990,112 (GRCm39) |
D1138G |
probably damaging |
Het |
| Prl6a1 |
T |
A |
13: 27,499,410 (GRCm39) |
S59R |
possibly damaging |
Het |
| Pth2r |
A |
G |
1: 65,427,697 (GRCm39) |
S457G |
possibly damaging |
Het |
| Rbm25 |
T |
A |
12: 83,721,828 (GRCm39) |
N671K |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,397,980 (GRCm39) |
K47N |
unknown |
Het |
| Ryr1 |
T |
A |
7: 28,791,600 (GRCm39) |
I1435F |
possibly damaging |
Het |
| Scin |
T |
A |
12: 40,131,673 (GRCm39) |
H287L |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,437,477 (GRCm39) |
L120P |
probably damaging |
Het |
| Slc34a1 |
A |
C |
13: 55,559,844 (GRCm39) |
|
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,875,245 (GRCm39) |
F19S |
possibly damaging |
Het |
| Sos1 |
A |
G |
17: 80,761,345 (GRCm39) |
V117A |
probably damaging |
Het |
| Spta1 |
C |
A |
1: 174,012,272 (GRCm39) |
N359K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,443,804 (GRCm39) |
|
probably null |
Het |
| Stx5a |
T |
A |
19: 8,719,675 (GRCm39) |
D13E |
probably damaging |
Het |
| Supt16 |
G |
A |
14: 52,414,112 (GRCm39) |
A489V |
probably damaging |
Het |
| Tmc6 |
A |
G |
11: 117,660,262 (GRCm39) |
S659P |
probably damaging |
Het |
| Tnfsf14 |
T |
C |
17: 57,500,876 (GRCm39) |
D65G |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,669,207 (GRCm39) |
Y299C |
probably damaging |
Het |
| Upk1a |
A |
G |
7: 30,309,145 (GRCm39) |
V59A |
possibly damaging |
Het |
| Usp38 |
T |
C |
8: 81,711,432 (GRCm39) |
T868A |
probably benign |
Het |
| Wdsub1 |
G |
A |
2: 59,707,059 (GRCm39) |
H58Y |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,653,035 (GRCm39) |
S19P |
possibly damaging |
Het |
| Zfp385b |
A |
C |
2: 77,246,257 (GRCm39) |
F257V |
probably benign |
Het |
| Zmym4 |
A |
C |
4: 126,804,940 (GRCm39) |
I188S |
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 |
|
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 |
|
|
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'- AAGGAGACAACTGATCCTCCCGTG -3'
(R):5'- GGTCCTTTAGGAAATGGAGACCCTCG -3'
Sequencing Primer
(F):5'- GTCTCTGACTCTAGCACAGCG -3'
(R):5'- CGTGTGTGGCGGTATAGAGATTA -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation