Incidental Mutation 'R2163:Tap1'
| ID |
235319 |
| 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 |
040166-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2163 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 34408447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000173831]
[ENSMUST00000174576]
|
| AlphaFold |
P21958 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041633
AA Change: M229L
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: M229L
| 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: M229L
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: M229L
| 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: 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 null
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 null
Transcript: ENSMUST00000174576
|
| SMART Domains |
Protein: ENSMUSP00000133499
Gene: ENSMUSG00000096727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
17 |
198 |
1.2e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.2252 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
97% (76/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
C |
A |
14: 67,175,997 (GRCm39) |
T64K |
unknown |
Het |
| Ablim2 |
T |
C |
5: 35,959,697 (GRCm39) |
|
probably benign |
Het |
| Acp4 |
T |
C |
7: 43,905,400 (GRCm39) |
D107G |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,679,632 (GRCm39) |
C871S |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 89,856,577 (GRCm39) |
V332A |
probably damaging |
Het |
| Alkal1 |
C |
T |
1: 6,459,736 (GRCm39) |
T104M |
probably benign |
Het |
| Astn1 |
A |
G |
1: 158,329,720 (GRCm39) |
S192G |
probably damaging |
Het |
| Axdnd1 |
A |
C |
1: 156,219,573 (GRCm39) |
V337G |
probably damaging |
Het |
| Baiap2l2 |
T |
C |
15: 79,143,395 (GRCm39) |
D481G |
possibly damaging |
Het |
| Cacna2d1 |
C |
T |
5: 16,567,317 (GRCm39) |
T964I |
probably damaging |
Het |
| Carf |
T |
C |
1: 60,186,645 (GRCm39) |
|
probably benign |
Het |
| Catsper2 |
T |
C |
2: 121,230,656 (GRCm39) |
D295G |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,375,713 (GRCm39) |
T84A |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,436,275 (GRCm39) |
H2508L |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,688,192 (GRCm39) |
T284S |
probably damaging |
Het |
| Chtop |
A |
T |
3: 90,409,518 (GRCm39) |
M125K |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,308,041 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,232,735 (GRCm39) |
|
probably null |
Het |
| Cyp2b10 |
A |
T |
7: 25,624,810 (GRCm39) |
|
probably benign |
Het |
| Cyp2c70 |
G |
A |
19: 40,149,163 (GRCm39) |
H328Y |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,162,452 (GRCm39) |
T77A |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,066,729 (GRCm39) |
|
probably null |
Het |
| Efhd1 |
A |
T |
1: 87,217,195 (GRCm39) |
D104V |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,087,875 (GRCm39) |
D957V |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,227,866 (GRCm39) |
S549R |
probably damaging |
Het |
| Fbxo3 |
C |
A |
2: 103,885,330 (GRCm39) |
H400N |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,050,264 (GRCm39) |
V86A |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,442,406 (GRCm39) |
M148T |
possibly damaging |
Het |
| Foxc1 |
C |
A |
13: 31,992,586 (GRCm39) |
H466N |
unknown |
Het |
| Gadl1 |
T |
A |
9: 115,778,626 (GRCm39) |
I180N |
possibly damaging |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm21718 |
T |
C |
14: 51,555,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep2 |
T |
A |
10: 14,003,970 (GRCm39) |
Y189* |
probably null |
Het |
| Hoxd13 |
T |
A |
2: 74,499,413 (GRCm39) |
S254T |
possibly damaging |
Het |
| Hspd1 |
A |
G |
1: 55,117,697 (GRCm39) |
|
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,334,023 (GRCm39) |
M198V |
probably benign |
Het |
| Katnal1 |
T |
A |
5: 148,825,746 (GRCm39) |
I362F |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,376,804 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,407,291 (GRCm39) |
|
probably null |
Het |
| Nell2 |
G |
T |
15: 95,327,859 (GRCm39) |
N301K |
probably damaging |
Het |
| Nenf |
T |
A |
1: 191,042,132 (GRCm39) |
D108V |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,638,581 (GRCm39) |
N293S |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,366,403 (GRCm39) |
K1229E |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,152,822 (GRCm39) |
F631L |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,224,352 (GRCm39) |
V705E |
probably damaging |
Het |
| Nsf |
G |
C |
11: 103,754,159 (GRCm39) |
A459G |
possibly damaging |
Het |
| Or1af1 |
A |
G |
2: 37,110,089 (GRCm39) |
E196G |
probably damaging |
Het |
| Or5w10 |
A |
G |
2: 87,375,238 (GRCm39) |
S217P |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,775,341 (GRCm39) |
D490N |
possibly damaging |
Het |
| Pinlyp |
T |
A |
7: 24,241,226 (GRCm39) |
Y192F |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,603,543 (GRCm39) |
|
probably benign |
Het |
| Ppara |
A |
G |
15: 85,685,247 (GRCm39) |
K399E |
probably benign |
Het |
| Ppp4r2 |
C |
A |
6: 100,842,047 (GRCm39) |
N169K |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,171,505 (GRCm39) |
E632V |
possibly damaging |
Het |
| Rpap3 |
T |
A |
15: 97,578,229 (GRCm39) |
Y562F |
possibly damaging |
Het |
| Rsph14 |
T |
A |
10: 74,793,611 (GRCm39) |
K263N |
probably damaging |
Het |
| Sanbr |
T |
C |
11: 23,526,826 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
T |
G |
9: 119,584,091 (GRCm39) |
D1508A |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,300 (GRCm39) |
T1530A |
probably damaging |
Het |
| Sec14l1 |
T |
A |
11: 117,034,108 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
A |
G |
5: 89,362,435 (GRCm39) |
I840V |
probably damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,926,664 (GRCm39) |
T554I |
possibly damaging |
Het |
| Slco1c1 |
T |
A |
6: 141,505,478 (GRCm39) |
V419D |
probably benign |
Het |
| Sltm |
T |
A |
9: 70,498,964 (GRCm39) |
F1013I |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,846 (GRCm39) |
K266E |
probably benign |
Het |
| Syt15 |
A |
G |
14: 33,948,073 (GRCm39) |
E306G |
probably benign |
Het |
| Tbc1d16 |
G |
C |
11: 119,045,904 (GRCm39) |
|
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,355,022 (GRCm39) |
Y68H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,642,845 (GRCm39) |
T13264A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubxn2a |
A |
T |
12: 4,935,757 (GRCm39) |
F131Y |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,923,580 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
T |
C |
7: 23,306,462 (GRCm39) |
L288P |
probably damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,508,352 (GRCm39) |
Y92H |
probably benign |
Het |
| Wdpcp |
G |
T |
11: 21,835,015 (GRCm39) |
E673* |
probably null |
Het |
| Zfr |
T |
A |
15: 12,162,309 (GRCm39) |
L820I |
probably 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 |
|
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'- TCTCACCATAGCCAGGTGTG -3'
(R):5'- GCTGCTTCATATGGGGAACA -3'
Sequencing Primer
(F):5'- CAGGTGTGGAGGATGGGAATG -3'
(R):5'- CAGGAAAAACCCTGTCTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation