Incidental Mutation 'R1839:Tap1'
| ID |
205649 |
| 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 |
045015-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1839 (G1)
|
| Quality Score |
90 |
|
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: 96.7%
- 10x: 94.7%
- 20x: 90.6%
|
| Validation Efficiency |
98% (90/92) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,203,369 (GRCm39) |
T403A |
probably damaging |
Het |
| Acat3 |
T |
A |
17: 13,147,493 (GRCm39) |
R175* |
probably null |
Het |
| Adam1b |
C |
A |
5: 121,639,104 (GRCm39) |
C647F |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,876,659 (GRCm39) |
N197S |
possibly damaging |
Het |
| Adcy2 |
C |
T |
13: 68,837,380 (GRCm39) |
|
probably null |
Het |
| Adcy5 |
A |
T |
16: 35,069,310 (GRCm39) |
N426I |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,748,299 (GRCm39) |
S500P |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,020,911 (GRCm39) |
Y212C |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,562,942 (GRCm39) |
S180P |
probably damaging |
Het |
| Arhgap20 |
C |
T |
9: 51,760,626 (GRCm39) |
R790W |
probably damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,203,702 (GRCm39) |
A757S |
possibly damaging |
Het |
| Begain |
G |
A |
12: 109,001,249 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
T |
C |
2: 76,842,009 (GRCm39) |
E1474G |
probably benign |
Het |
| Ccdc88b |
A |
G |
19: 6,831,477 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
A |
G |
12: 108,161,333 (GRCm39) |
T195A |
probably damaging |
Het |
| Cd55b |
C |
A |
1: 130,341,842 (GRCm39) |
C265F |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,707,105 (GRCm39) |
H1196R |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,575,646 (GRCm39) |
S190G |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,442,340 (GRCm39) |
S2077G |
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,742,032 (GRCm39) |
H2296Y |
probably benign |
Het |
| Cxxc4 |
C |
A |
3: 133,946,414 (GRCm39) |
H332N |
probably damaging |
Het |
| Cyp24a1 |
T |
C |
2: 170,338,661 (GRCm39) |
I12V |
probably benign |
Het |
| Cyp3a57 |
T |
A |
5: 145,318,111 (GRCm39) |
L364Q |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,440,837 (GRCm39) |
I47V |
probably benign |
Het |
| Ddx5 |
A |
T |
11: 106,675,723 (GRCm39) |
D322E |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,680,123 (GRCm39) |
C405R |
possibly damaging |
Het |
| Emc1 |
T |
C |
4: 139,087,796 (GRCm39) |
F100S |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,090,480 (GRCm39) |
|
probably benign |
Het |
| Gm10110 |
A |
T |
14: 90,135,272 (GRCm39) |
|
noncoding transcript |
Het |
| Gm17332 |
T |
C |
11: 31,132,386 (GRCm39) |
H26R |
possibly damaging |
Het |
| Gna12 |
T |
C |
5: 140,748,367 (GRCm39) |
N183S |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,496,497 (GRCm39) |
N24D |
probably benign |
Het |
| Gsdma3 |
C |
T |
11: 98,520,684 (GRCm39) |
A105V |
probably benign |
Het |
| Hsd3b5 |
T |
C |
3: 98,527,044 (GRCm39) |
Y134C |
probably benign |
Het |
| Ifi213 |
T |
C |
1: 173,417,166 (GRCm39) |
I415M |
probably damaging |
Het |
| Ints9 |
C |
A |
14: 65,253,979 (GRCm39) |
P278T |
probably damaging |
Het |
| Krt79 |
C |
T |
15: 101,846,373 (GRCm39) |
E192K |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,567,337 (GRCm39) |
N132S |
probably benign |
Het |
| Ltn1 |
T |
A |
16: 87,213,152 (GRCm39) |
K470* |
probably null |
Het |
| Magi2 |
A |
T |
5: 20,670,825 (GRCm39) |
T163S |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,417,649 (GRCm39) |
M18T |
probably damaging |
Het |
| Med12l |
A |
G |
3: 58,975,740 (GRCm39) |
T212A |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,058,012 (GRCm39) |
L829P |
possibly damaging |
Het |
| Mgme1 |
T |
A |
2: 144,121,407 (GRCm39) |
C288S |
probably benign |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,210,637 (GRCm39) |
N1725S |
possibly damaging |
Het |
| Naa80 |
G |
A |
9: 107,460,216 (GRCm39) |
R37H |
possibly damaging |
Het |
| Nme4 |
A |
T |
17: 26,311,071 (GRCm39) |
W165R |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,196,649 (GRCm39) |
D1128E |
probably benign |
Het |
| Or2t48 |
A |
T |
11: 58,420,199 (GRCm39) |
Y204* |
probably null |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,332,538 (GRCm39) |
D155G |
possibly damaging |
Het |
| Pex12 |
A |
T |
11: 83,188,648 (GRCm39) |
S116T |
probably damaging |
Het |
| Plekhh1 |
C |
T |
12: 79,125,731 (GRCm39) |
|
probably benign |
Het |
| Plekhh3 |
A |
G |
11: 101,054,426 (GRCm39) |
|
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,104,342 (GRCm39) |
M572T |
possibly damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,765,719 (GRCm39) |
R667G |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rgs14 |
T |
C |
13: 55,530,651 (GRCm39) |
|
probably benign |
Het |
| Rhbdf2 |
A |
T |
11: 116,491,017 (GRCm39) |
V645E |
possibly damaging |
Het |
| Robo3 |
A |
G |
9: 37,333,623 (GRCm39) |
V696A |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,344 (GRCm39) |
F1212L |
possibly damaging |
Het |
| Sdc4 |
T |
C |
2: 164,270,932 (GRCm39) |
E109G |
probably benign |
Het |
| Serpind1 |
G |
T |
16: 17,160,856 (GRCm39) |
R462L |
probably damaging |
Het |
| Smad9 |
CTTT |
CTT |
3: 54,696,600 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
C |
A |
2: 148,237,453 (GRCm39) |
N21K |
probably benign |
Het |
| Thap4 |
T |
C |
1: 93,678,009 (GRCm39) |
E259G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,646,969 (GRCm39) |
N30S |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,343,571 (GRCm39) |
V27E |
possibly damaging |
Het |
| Top3a |
A |
G |
11: 60,644,714 (GRCm39) |
V305A |
probably damaging |
Het |
| Trim59 |
A |
T |
3: 68,944,971 (GRCm39) |
I123K |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,691,839 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
T |
A |
2: 25,897,750 (GRCm39) |
E290V |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,258,308 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
T |
7: 37,666,814 (GRCm39) |
D206E |
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,640,086 (GRCm39) |
H465R |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,547,096 (GRCm39) |
S221P |
probably benign |
Het |
| Vmn1r39 |
T |
C |
6: 66,782,217 (GRCm39) |
|
probably null |
Het |
| Vps39 |
A |
T |
2: 120,155,878 (GRCm39) |
L514H |
probably damaging |
Het |
| Vps72 |
G |
A |
3: 95,026,529 (GRCm39) |
R158Q |
possibly damaging |
Het |
| Wdr59 |
T |
C |
8: 112,211,972 (GRCm39) |
D366G |
probably benign |
Het |
| Zfp366 |
C |
A |
13: 99,365,000 (GRCm39) |
Q54K |
probably damaging |
Het |
| Zfp523 |
T |
A |
17: 28,413,967 (GRCm39) |
I34N |
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 |
|
R1837: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'- AACGCCAGCACTTCTAGTC -3'
(R):5'- TCTTCTTAGGGCCCAGGAAG -3'
Sequencing Primer
(F):5'- AGACTCTGGACAGCTCACG -3'
(R):5'- ACAGCATGTCTCCAGCGTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation