Incidental Mutation 'R4418:Tap1'
| ID |
326974 |
| 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 |
041139-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4418 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 34407353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000174576]
[ENSMUST00000173831]
[ENSMUST00000171321]
|
| AlphaFold |
P21958 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041633
AA Change: L167Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: L167Q
| 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 damaging
Transcript: ENSMUST00000170086
AA Change: L167Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: L167Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000178857
|
| 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: ENSMUST00000171321
|
| Predicted Effect |
probably null
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 |
|
| Meta Mutation Damage Score |
0.8002 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
95% (72/76) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
G |
1: 159,872,372 (GRCm39) |
|
noncoding transcript |
Het |
| Acot12 |
A |
G |
13: 91,932,524 (GRCm39) |
T507A |
possibly damaging |
Het |
| Agap2 |
T |
G |
10: 126,927,519 (GRCm39) |
C1113W |
probably damaging |
Het |
| Ap3s1-ps2 |
A |
T |
8: 95,131,921 (GRCm39) |
|
noncoding transcript |
Het |
| B3gnt3 |
T |
C |
8: 72,146,413 (GRCm39) |
R39G |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,849,194 (GRCm39) |
D899V |
possibly damaging |
Het |
| Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Col6a1 |
T |
A |
10: 76,554,239 (GRCm39) |
K323* |
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,453,972 (GRCm39) |
F285S |
possibly damaging |
Het |
| Dctn2 |
T |
G |
10: 127,114,234 (GRCm39) |
M360R |
probably benign |
Het |
| Dele1 |
T |
C |
18: 38,394,340 (GRCm39) |
|
probably null |
Het |
| Dgka |
A |
T |
10: 128,563,963 (GRCm39) |
L462Q |
probably damaging |
Het |
| Drg2 |
A |
C |
11: 60,358,972 (GRCm39) |
K364T |
probably damaging |
Het |
| Dync1li1 |
T |
A |
9: 114,535,238 (GRCm39) |
S167R |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,956,799 (GRCm39) |
T365A |
probably benign |
Het |
| Fer |
A |
T |
17: 64,336,286 (GRCm39) |
D554V |
possibly damaging |
Het |
| Fignl2 |
A |
G |
15: 100,951,830 (GRCm39) |
S151P |
possibly damaging |
Het |
| Gbgt1 |
A |
G |
2: 28,388,420 (GRCm39) |
Y35C |
probably damaging |
Het |
| Gm6526 |
T |
A |
14: 43,986,302 (GRCm39) |
I79K |
probably damaging |
Het |
| Gpr6 |
T |
G |
10: 40,946,604 (GRCm39) |
N326T |
probably damaging |
Het |
| H2bc4 |
C |
T |
13: 23,868,486 (GRCm39) |
T91M |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,751,178 (GRCm39) |
T268M |
probably benign |
Het |
| Hnf4g |
A |
G |
3: 3,713,154 (GRCm39) |
M243V |
possibly damaging |
Het |
| Homer1 |
A |
G |
13: 93,538,577 (GRCm39) |
E314G |
probably damaging |
Het |
| Hs6st1 |
T |
C |
1: 36,143,108 (GRCm39) |
Y348H |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,595,984 (GRCm39) |
I103N |
probably damaging |
Het |
| Ipo5 |
T |
G |
14: 121,181,305 (GRCm39) |
C944G |
possibly damaging |
Het |
| Kcnb1 |
C |
A |
2: 166,947,595 (GRCm39) |
E418* |
probably null |
Het |
| Kcnk2 |
G |
A |
1: 188,988,924 (GRCm39) |
R207C |
probably damaging |
Het |
| Kctd8 |
T |
C |
5: 69,498,505 (GRCm39) |
E47G |
probably damaging |
Het |
| Klhdc2 |
C |
T |
12: 69,354,371 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,509,140 (GRCm39) |
|
probably benign |
Het |
| Mgat1 |
A |
G |
11: 49,152,072 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mmp25 |
T |
A |
17: 23,863,044 (GRCm39) |
R122S |
probably damaging |
Het |
| Mrpl39 |
C |
A |
16: 84,522,012 (GRCm39) |
|
probably null |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,559,898 (GRCm39) |
F1007S |
probably damaging |
Het |
| Neto1 |
T |
C |
18: 86,422,981 (GRCm39) |
M146T |
probably benign |
Het |
| Opn1sw |
G |
A |
6: 29,379,423 (GRCm39) |
R45* |
probably null |
Het |
| Osbpl5 |
A |
T |
7: 143,263,552 (GRCm39) |
C98* |
probably null |
Het |
| Pacc1 |
T |
A |
1: 191,080,629 (GRCm39) |
V283E |
probably damaging |
Het |
| Pcdhb7 |
C |
T |
18: 37,476,535 (GRCm39) |
A557V |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,586,748 (GRCm39) |
F155L |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pmfbp1 |
C |
A |
8: 110,257,265 (GRCm39) |
Q609K |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,831,795 (GRCm39) |
|
probably null |
Het |
| Ppp2cb |
G |
A |
8: 34,107,077 (GRCm39) |
R254Q |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,619,766 (GRCm39) |
S349T |
probably damaging |
Het |
| Rnf167 |
T |
A |
11: 70,538,743 (GRCm39) |
W17R |
probably damaging |
Het |
| Rpl21-ps4 |
A |
G |
14: 11,227,879 (GRCm38) |
|
noncoding transcript |
Het |
| Rxfp2 |
A |
T |
5: 149,972,265 (GRCm39) |
H158L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,661,569 (GRCm39) |
C1807Y |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,745,464 (GRCm39) |
E601D |
probably damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,594,835 (GRCm39) |
C542S |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,832,514 (GRCm39) |
V393A |
possibly damaging |
Het |
| Stil |
A |
G |
4: 114,866,574 (GRCm39) |
N176S |
probably benign |
Het |
| Tcl1b3 |
A |
T |
12: 105,159,844 (GRCm39) |
Q105L |
probably damaging |
Het |
| Trappc10 |
G |
T |
10: 78,053,022 (GRCm39) |
A251D |
probably damaging |
Het |
| Trim43a |
G |
T |
9: 88,464,206 (GRCm39) |
C39F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,719,825 (GRCm39) |
|
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,803,951 (GRCm39) |
L208* |
probably null |
Het |
| Vmn2r88 |
G |
T |
14: 51,655,538 (GRCm39) |
L583F |
probably damaging |
Het |
| Wasf1 |
C |
T |
10: 40,812,578 (GRCm39) |
H456Y |
unknown |
Het |
| Zfp120 |
A |
G |
2: 149,960,105 (GRCm39) |
I73T |
possibly damaging |
Het |
| Zfp990 |
T |
C |
4: 145,263,298 (GRCm39) |
C99R |
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 |
|
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 |
|
|
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'- AACAGTCGTCCAGATGCCTTC -3'
(R):5'- TGATGTGAAGTTCTGCTCCCAG -3'
Sequencing Primer
(F):5'- AGATGCCTTCGCTATCAGTTATG -3'
(R):5'- TCTGCTCCCAGAAGACCCTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation