Incidental Mutation 'R4779:Tap1'
| ID |
368195 |
| 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 |
045240-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4779 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34406530-34416199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34412865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 560
(V560A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128401
(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 |
probably damaging
Transcript: ENSMUST00000041633
AA Change: V532A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: V532A
| 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 |
probably damaging
Transcript: ENSMUST00000170086
AA Change: V560A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: V560A
| 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: ENSMUST00000172960
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.7314 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
98% (95/97) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
A |
16: 4,667,613 (GRCm39) |
S335T |
unknown |
Het |
| 4933421I07Rik |
T |
A |
7: 42,097,455 (GRCm39) |
H13L |
possibly damaging |
Het |
| 6030468B19Rik |
A |
G |
11: 117,696,834 (GRCm39) |
T185A |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,228,635 (GRCm39) |
V294E |
probably benign |
Het |
| Abhd16b |
A |
G |
2: 181,135,253 (GRCm39) |
T52A |
possibly damaging |
Het |
| Actl7a |
A |
T |
4: 56,743,632 (GRCm39) |
N53I |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,814,445 (GRCm39) |
E354G |
probably benign |
Het |
| Arap1 |
T |
C |
7: 101,053,574 (GRCm39) |
F1301S |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,223,958 (GRCm39) |
W1447R |
probably damaging |
Het |
| Atoh7 |
ATGGCGCT |
AT |
10: 62,936,187 (GRCm39) |
|
probably benign |
Het |
| Ccl24 |
T |
A |
5: 135,601,811 (GRCm39) |
T6S |
possibly damaging |
Het |
| Cep152 |
G |
T |
2: 125,410,812 (GRCm39) |
P1292Q |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,239,731 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,791,477 (GRCm39) |
S2627T |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,468,963 (GRCm39) |
S552T |
probably damaging |
Het |
| Ciita |
C |
A |
16: 10,329,230 (GRCm39) |
L502M |
probably damaging |
Het |
| Clic1 |
T |
C |
17: 35,271,463 (GRCm39) |
F31S |
probably damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,068,898 (GRCm39) |
I147N |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,248,322 (GRCm39) |
S1624P |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,819,831 (GRCm39) |
D276E |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,793,092 (GRCm39) |
N276Y |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,504,870 (GRCm39) |
N2000Y |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,410,035 (GRCm39) |
M55V |
possibly damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,553,969 (GRCm39) |
I301T |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,034,580 (GRCm39) |
V1443A |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,363,964 (GRCm39) |
V612A |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,794,362 (GRCm39) |
C1189S |
probably damaging |
Het |
| Fgfr2 |
T |
G |
7: 129,786,923 (GRCm39) |
|
probably benign |
Het |
| Fmn2 |
A |
G |
1: 174,437,461 (GRCm39) |
E1144G |
probably damaging |
Het |
| Fmo3 |
T |
C |
1: 162,796,407 (GRCm39) |
Y55C |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,229,865 (GRCm39) |
T11A |
probably damaging |
Het |
| Ghdc |
G |
T |
11: 100,660,929 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5591 |
T |
C |
7: 38,221,680 (GRCm39) |
T130A |
probably damaging |
Het |
| Heg1 |
T |
G |
16: 33,540,142 (GRCm39) |
D367E |
probably benign |
Het |
| Igkv13-84 |
C |
T |
6: 68,916,894 (GRCm39) |
P64S |
probably damaging |
Het |
| Il10rb |
T |
A |
16: 91,211,545 (GRCm39) |
S128T |
possibly damaging |
Het |
| Il15ra |
T |
A |
2: 11,723,117 (GRCm39) |
I47N |
probably damaging |
Het |
| Il33 |
C |
A |
19: 29,936,311 (GRCm39) |
S207* |
probably null |
Het |
| Itgb7 |
A |
G |
15: 102,132,848 (GRCm39) |
Y155H |
possibly damaging |
Het |
| Kdm5a |
A |
G |
6: 120,346,060 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
G |
A |
19: 37,406,397 (GRCm39) |
V987I |
probably benign |
Het |
| Krtap19-2 |
G |
A |
16: 88,670,762 (GRCm39) |
|
probably benign |
Het |
| Krtap24-1 |
T |
A |
16: 88,408,417 (GRCm39) |
R236S |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,566,813 (GRCm39) |
I406V |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,290,059 (GRCm39) |
H3593Q |
possibly damaging |
Het |
| Mavs |
G |
T |
2: 131,082,285 (GRCm39) |
W56C |
probably damaging |
Het |
| Mn1 |
C |
T |
5: 111,567,526 (GRCm39) |
P499S |
probably damaging |
Het |
| Ntn5 |
T |
A |
7: 45,340,895 (GRCm39) |
C178S |
probably damaging |
Het |
| Nufip2 |
A |
G |
11: 77,577,154 (GRCm39) |
H34R |
unknown |
Het |
| Or5p51 |
T |
A |
7: 107,444,755 (GRCm39) |
M62L |
possibly damaging |
Het |
| Or6f2 |
T |
A |
7: 139,756,363 (GRCm39) |
L110Q |
probably damaging |
Het |
| Osbpl10 |
C |
T |
9: 114,938,598 (GRCm39) |
S86L |
probably damaging |
Het |
| Pitpna |
T |
A |
11: 75,511,153 (GRCm39) |
M242K |
possibly damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,572,838 (GRCm39) |
V345A |
probably benign |
Het |
| Polk |
A |
G |
13: 96,632,999 (GRCm39) |
|
probably null |
Het |
| Polr3k |
A |
G |
2: 181,506,340 (GRCm39) |
Y30C |
probably damaging |
Het |
| Pramel6 |
A |
G |
2: 87,339,941 (GRCm39) |
H235R |
probably benign |
Het |
| Ptpra |
G |
A |
2: 130,379,537 (GRCm39) |
V364I |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,309,426 (GRCm39) |
|
probably benign |
Het |
| Ring1 |
T |
C |
17: 34,241,263 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Samsn1 |
C |
A |
16: 75,744,177 (GRCm39) |
|
noncoding transcript |
Het |
| Scara5 |
A |
G |
14: 65,968,198 (GRCm39) |
H157R |
probably benign |
Het |
| Sdc3 |
C |
T |
4: 130,546,376 (GRCm39) |
P245L |
probably damaging |
Het |
| Slc18b1 |
T |
A |
10: 23,696,767 (GRCm39) |
M318K |
possibly damaging |
Het |
| Slc26a10 |
C |
T |
10: 127,009,224 (GRCm39) |
A638T |
possibly damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,717,013 (GRCm39) |
W259R |
possibly damaging |
Het |
| Spata13 |
G |
A |
14: 60,991,356 (GRCm39) |
W366* |
probably null |
Het |
| Sptlc3 |
A |
G |
2: 139,431,509 (GRCm39) |
T344A |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,435,389 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
A |
G |
14: 50,598,707 (GRCm39) |
Y231C |
possibly damaging |
Het |
| Tmem245 |
A |
T |
4: 56,936,468 (GRCm39) |
S230T |
possibly damaging |
Het |
| Tnnt3 |
C |
T |
7: 142,068,020 (GRCm39) |
|
probably benign |
Het |
| Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
| Tshz2 |
A |
G |
2: 169,804,601 (GRCm39) |
|
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,397 (GRCm39) |
S129P |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,776,237 (GRCm39) |
N1727I |
probably damaging |
Het |
| Ttc7b |
A |
G |
12: 100,369,621 (GRCm39) |
S383P |
probably damaging |
Het |
| Tulp3 |
T |
A |
6: 128,300,083 (GRCm39) |
I448F |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,542,778 (GRCm39) |
|
probably null |
Het |
| Vav1 |
G |
A |
17: 57,603,552 (GRCm39) |
V84I |
probably damaging |
Het |
| Vav3 |
A |
T |
3: 109,416,110 (GRCm39) |
K243I |
possibly damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,956,011 (GRCm39) |
I93F |
probably damaging |
Het |
| Vmn2r73 |
C |
T |
7: 85,520,923 (GRCm39) |
W348* |
probably null |
Het |
| Zdbf2 |
A |
G |
1: 63,342,397 (GRCm39) |
R259G |
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 |
|
|
R4418:Tap1
|
UTSW |
17 |
34,407,353 (GRCm39) |
splice site |
probably null |
|
|
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'- TGCCTGGTCCAGTATGATCAC -3'
(R):5'- GGAGAGTGCAGATACCTGTG -3'
Sequencing Primer
(F):5'- GGTCCAGTATGATCACCATTACCTG -3'
(R):5'- AGATACCTGTGTCATAGCCCTGAG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation