Incidental Mutation 'R4913:Tap1'
| ID |
379750 |
| 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 |
042515-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4913 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34412468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 474
(F474L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039264
(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 |
possibly damaging
Transcript: ENSMUST00000041633
AA Change: F474L
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: F474L
| 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 |
possibly damaging
Transcript: ENSMUST00000170086
AA Change: F502L
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: F502L
| 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: F171L
|
| SMART Domains |
Protein: ENSMUSP00000130189
Gene: ENSMUSG00000037321
AA Change: F171L
| 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: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
A |
4: 144,255,381 (GRCm39) |
M267K |
possibly damaging |
Het |
| Acsm5 |
T |
C |
7: 119,133,566 (GRCm39) |
S244P |
probably damaging |
Het |
| Actr6 |
A |
G |
10: 89,550,808 (GRCm39) |
F329L |
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,652,588 (GRCm39) |
S169P |
probably benign |
Het |
| Agtpbp1 |
C |
A |
13: 59,647,886 (GRCm39) |
G645C |
probably damaging |
Het |
| AI661453 |
C |
T |
17: 47,779,480 (GRCm39) |
R1069* |
probably null |
Het |
| Akr1c6 |
T |
C |
13: 4,504,524 (GRCm39) |
I303T |
probably benign |
Het |
| Arnt |
A |
G |
3: 95,397,965 (GRCm39) |
R588G |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,149,979 (GRCm39) |
|
probably null |
Het |
| Casp12 |
T |
C |
9: 5,358,726 (GRCm39) |
V318A |
probably damaging |
Het |
| Cblb |
C |
T |
16: 51,986,392 (GRCm39) |
P545L |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,896,665 (GRCm39) |
I1521F |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,473,225 (GRCm39) |
C255R |
probably damaging |
Het |
| Ccnb1ip1 |
T |
A |
14: 51,029,601 (GRCm39) |
K154* |
probably null |
Het |
| Cd300a |
A |
T |
11: 114,784,198 (GRCm39) |
K69* |
probably null |
Het |
| Cdin1 |
A |
G |
2: 115,500,568 (GRCm39) |
|
probably null |
Het |
| Clec10a |
A |
G |
11: 70,060,851 (GRCm39) |
Y78C |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,489,695 (GRCm39) |
I503V |
possibly damaging |
Het |
| Cpa2 |
A |
G |
6: 30,554,292 (GRCm39) |
H304R |
probably damaging |
Het |
| Crb2 |
A |
T |
2: 37,680,257 (GRCm39) |
H395L |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 31,038,113 (GRCm39) |
N4257K |
probably damaging |
Het |
| Dnase2a |
G |
A |
8: 85,635,477 (GRCm39) |
D25N |
probably damaging |
Het |
| Drd1 |
T |
C |
13: 54,207,186 (GRCm39) |
T343A |
probably benign |
Het |
| Emid1 |
G |
A |
11: 5,082,012 (GRCm39) |
T161I |
probably benign |
Het |
| Epn2 |
A |
G |
11: 61,425,402 (GRCm39) |
|
probably null |
Het |
| Esp36 |
A |
T |
17: 38,728,055 (GRCm39) |
N75K |
possibly damaging |
Het |
| Faf1 |
A |
G |
4: 109,792,746 (GRCm39) |
S573G |
possibly damaging |
Het |
| Fam149a |
T |
G |
8: 45,806,920 (GRCm39) |
S231R |
probably damaging |
Het |
| Fam78a |
T |
C |
2: 31,959,774 (GRCm39) |
E112G |
probably damaging |
Het |
| Fgf18 |
T |
C |
11: 33,084,316 (GRCm39) |
D46G |
probably benign |
Het |
| Fggy |
G |
A |
4: 95,585,313 (GRCm39) |
|
probably null |
Het |
| Foxb1 |
T |
C |
9: 69,666,859 (GRCm39) |
M224V |
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,841,808 (GRCm39) |
C238R |
possibly damaging |
Het |
| Gsdmc3 |
A |
G |
15: 63,730,122 (GRCm39) |
*481R |
probably null |
Het |
| H2az2 |
C |
A |
11: 6,383,750 (GRCm39) |
A57S |
probably damaging |
Het |
| Hsd17b11 |
T |
C |
5: 104,140,748 (GRCm39) |
I250V |
probably benign |
Het |
| Hus1 |
C |
A |
11: 8,946,856 (GRCm39) |
L280F |
probably benign |
Het |
| Ide |
A |
T |
19: 37,306,469 (GRCm39) |
H101Q |
unknown |
Het |
| Ido1 |
T |
C |
8: 25,074,533 (GRCm39) |
D279G |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,674,214 (GRCm39) |
V307A |
probably benign |
Het |
| Ipo5 |
G |
A |
14: 121,172,498 (GRCm39) |
V519I |
probably damaging |
Het |
| Krba1 |
T |
C |
6: 48,383,891 (GRCm39) |
V239A |
probably benign |
Het |
| Lmod3 |
A |
G |
6: 97,224,125 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,393,682 (GRCm39) |
D836G |
probably damaging |
Het |
| Malt1 |
G |
T |
18: 65,609,351 (GRCm39) |
C774F |
probably damaging |
Het |
| Map2k4 |
C |
A |
11: 65,600,758 (GRCm39) |
D58Y |
probably damaging |
Het |
| Mc2r |
T |
C |
18: 68,540,411 (GRCm39) |
N294S |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,389,116 (GRCm39) |
|
probably null |
Het |
| Mybpc3 |
A |
G |
2: 90,956,609 (GRCm39) |
E637G |
possibly damaging |
Het |
| Narf |
A |
G |
11: 121,135,469 (GRCm39) |
Q107R |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,440,064 (GRCm39) |
G547D |
probably benign |
Het |
| Nucb2 |
G |
T |
7: 116,123,540 (GRCm39) |
G51* |
probably null |
Het |
| Or10al5 |
T |
A |
17: 38,063,315 (GRCm39) |
V190D |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,913,526 (GRCm39) |
D786E |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,712,716 (GRCm39) |
T543A |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,339,513 (GRCm39) |
F584L |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,476,704 (GRCm39) |
N266S |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,042,866 (GRCm39) |
S446* |
probably null |
Het |
| Pkp4 |
T |
G |
2: 59,135,794 (GRCm39) |
H186Q |
probably damaging |
Het |
| Prl3b1 |
T |
C |
13: 27,433,460 (GRCm39) |
V205A |
probably damaging |
Het |
| Prss32 |
T |
C |
17: 24,078,157 (GRCm39) |
V281A |
probably damaging |
Het |
| Psd3 |
C |
T |
8: 68,573,821 (GRCm39) |
C120Y |
probably damaging |
Het |
| Ptcra |
A |
G |
17: 47,069,574 (GRCm39) |
L99P |
probably damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,995,026 (GRCm39) |
T855I |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,066,111 (GRCm39) |
E199G |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,083,216 (GRCm39) |
C580S |
probably damaging |
Het |
| Resf1 |
C |
G |
6: 149,230,887 (GRCm39) |
S1311C |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 87,302,493 (GRCm39) |
V143A |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,246 (GRCm39) |
Y4431N |
probably benign |
Het |
| Sec24b |
A |
T |
3: 129,796,028 (GRCm39) |
S367T |
probably benign |
Het |
| Sema4c |
G |
A |
1: 36,589,266 (GRCm39) |
S620F |
probably benign |
Het |
| Slc12a1 |
G |
A |
2: 125,070,670 (GRCm39) |
G1054E |
probably damaging |
Het |
| Slc16a3 |
A |
G |
11: 120,848,794 (GRCm39) |
R417G |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,195,722 (GRCm39) |
S106T |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,149,284 (GRCm39) |
T220A |
probably damaging |
Het |
| Tas2r106 |
G |
T |
6: 131,655,422 (GRCm39) |
A143D |
probably benign |
Het |
| Tbx6 |
A |
T |
7: 126,383,707 (GRCm39) |
|
probably null |
Het |
| Tfap2a |
T |
A |
13: 40,870,706 (GRCm39) |
N402I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,281,275 (GRCm39) |
V22E |
probably damaging |
Het |
| Trip4 |
T |
C |
9: 65,765,639 (GRCm39) |
I353M |
probably damaging |
Het |
| Ubr2 |
C |
A |
17: 47,270,385 (GRCm39) |
|
probably null |
Het |
| Ugdh |
A |
G |
5: 65,580,791 (GRCm39) |
|
probably null |
Het |
| Uhrf1 |
T |
C |
17: 56,622,478 (GRCm39) |
V431A |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,200 (GRCm39) |
K376R |
probably benign |
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 |
|
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'- CTCTCTGCAAGAGTTTTCGTGG -3'
Sequencing Primer
(F):5'- GGTACTGTCTACCCATCCCTTTTATG -3'
(R):5'- GAGAATTGTCTCTTGGCTTGATCTCC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation