Incidental Mutation 'R8146:Tap1'
| ID |
632830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tap1
|
| Ensembl Gene |
ENSMUSG00000037321 |
| Gene Name |
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) |
| Synonyms |
ABC transporter, MHC, 1; ABC17; antigen peptide transporter (APT1); ATP-binding cassette, subfamily B, member 2 (Abcb2); ATP-binding cassette, sub-family B (MDR/TAP), member 2; ATP-binding cassette transporter, major histocompatibility complex, 1; ATP dependent transport protein family member; histocompatibility antigen modifier 1 (Ham-1, Ham1); MTP1; peptide supply factor 1 (PSF-1); peptide transporter PSF1; RING4; transporter 1, ABC; transporter 1, ATP-binding cassette, sub-family B; transporter, ABC, MHC, 1; transporter, ATP-binding cassette, major histocompatibility complex, 1; transporter associated with antigen processing 1 (Tap-1, TAP); Y3 |
| MMRRC Submission |
|
| Accession Numbers |
Genbank: NM_013683; MGI: 98483 |
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8146 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34187553-34197225 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34189232 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 194
(D194V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041633]
[ENSMUST00000170086]
[ENSMUST00000173831]
[ENSMUST00000174576]
|
| AlphaFold |
P21958 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041633
AA Change: D194V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: D194V
| 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 |
probably damaging
Transcript: ENSMUST00000170086
AA Change: D194V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: D194V
| 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 |
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: 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: ENSMUST00000174576
|
| SMART Domains |
Protein: ENSMUSP00000133499
Gene: ENSMUSG00000096727
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Proteasome
|
17 |
198 |
1.2e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.2%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
G |
2: 19,494,003 |
E393A |
possibly damaging |
Het |
| 4930550C14Rik |
A |
G |
9: 53,422,970 |
D171G |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,397,829 |
Y3561H |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,114,174 |
V464D |
probably damaging |
Het |
| Adgrl1 |
C |
A |
8: 83,930,989 |
T408N |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 90,307,698 |
R523Q |
probably damaging |
Het |
| Anks6 |
C |
A |
4: 47,043,605 |
A375S |
unknown |
Het |
| Bbs10 |
T |
A |
10: 111,300,535 |
I503K |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,818,796 |
I598T |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,164,874 |
D339E |
probably damaging |
Het |
| Cdh4 |
C |
A |
2: 179,874,078 |
Q350K |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,956,363 |
L617P |
probably damaging |
Het |
| Cnbd2 |
T |
G |
2: 156,328,361 |
V122G |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,288,007 |
N158K |
possibly damaging |
Het |
| Cul1 |
T |
C |
6: 47,495,093 |
V56A |
possibly damaging |
Het |
| Dopey2 |
T |
A |
16: 93,749,939 |
I277N |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,192,665 |
D340G |
probably benign |
Het |
| Exoc6b |
A |
C |
6: 84,908,194 |
D254E |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,902,492 |
K268E |
probably damaging |
Het |
| Gbp8 |
T |
A |
5: 105,030,978 |
N157I |
probably benign |
Het |
| Hacd1 |
T |
A |
2: 14,044,794 |
S118C |
probably damaging |
Het |
| Hcn4 |
A |
C |
9: 58,823,744 |
E78A |
unknown |
Het |
| Inpp5e |
T |
A |
2: 26,399,262 |
T549S |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,755,279 |
N281S |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,625,126 |
D1280G |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,359,879 |
V307A |
probably benign |
Het |
| Mafb |
A |
G |
2: 160,366,378 |
L100P |
probably damaging |
Het |
| Med24 |
C |
T |
11: 98,718,114 |
G119R |
probably benign |
Het |
| Mvp |
G |
T |
7: 126,986,999 |
P866Q |
probably benign |
Het |
| Olfr630 |
A |
G |
7: 103,755,303 |
I94T |
probably damaging |
Het |
| Phykpl |
T |
C |
11: 51,585,581 |
Y43H |
probably damaging |
Het |
| Prag1 |
T |
G |
8: 36,104,210 |
L649R |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,940,997 |
F293L |
probably damaging |
Het |
| Rasip1 |
T |
G |
7: 45,630,280 |
S316A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,147,232 |
S1627L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,590,711 |
R1565G |
probably benign |
Het |
| Sart3 |
G |
A |
5: 113,747,957 |
T572M |
probably damaging |
Het |
| Sec24b |
G |
T |
3: 129,995,924 |
S816* |
probably null |
Het |
| Slamf1 |
C |
T |
1: 171,792,319 |
P279L |
probably benign |
Het |
| Slc18a1 |
C |
A |
8: 69,042,749 |
V368F |
possibly damaging |
Het |
| Tuba1c |
A |
G |
15: 99,037,615 |
Y319C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,070,157 |
I579N |
probably damaging |
Het |
| Zbtb22 |
G |
T |
17: 33,916,982 |
V34L |
probably damaging |
Het |
|
| Other mutations in Tap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
rose
|
APN |
17 |
34194940 |
missense |
probably damaging |
1.00 |
|
IGL01294:Tap1
|
APN |
17 |
34194045 |
critical splice donor site |
probably null |
|
|
IGL01776:Tap1
|
APN |
17 |
34193128 |
missense |
possibly damaging |
0.82 |
|
IGL01787:Tap1
|
APN |
17 |
34196604 |
missense |
probably benign |
0.21 |
|
IGL02246:Tap1
|
APN |
17 |
34193989 |
missense |
probably benign |
0.01 |
|
IGL02996:Tap1
|
APN |
17 |
34191396 |
missense |
probably damaging |
1.00 |
|
IGL03278:Tap1
|
APN |
17 |
34191483 |
missense |
probably damaging |
1.00 |
|
bullus
|
UTSW |
17 |
34189562 |
critical splice donor site |
probably null |
|
|
entertainer
|
UTSW |
17 |
34193319 |
splice site |
probably null |
|
|
joplin
|
UTSW |
17 |
34193258 |
missense |
probably damaging |
1.00 |
|
ragtime
|
UTSW |
17 |
34190642 |
nonsense |
probably null |
|
|
rose2
|
UTSW |
17 |
34194941 |
missense |
probably damaging |
1.00 |
|
Tapestry
|
UTSW |
17 |
34193189 |
missense |
probably damaging |
1.00 |
|
PIT4802001:Tap1
|
UTSW |
17 |
34193191 |
missense |
probably damaging |
1.00 |
|
R1566:Tap1
|
UTSW |
17 |
34189546 |
missense |
probably benign |
0.00 |
|
R1795:Tap1
|
UTSW |
17 |
34194925 |
missense |
probably benign |
0.21 |
|
R1837:Tap1
|
UTSW |
17 |
34188109 |
missense |
possibly damaging |
0.50 |
|
R1839:Tap1
|
UTSW |
17 |
34188109 |
missense |
possibly damaging |
0.50 |
|
R1892:Tap1
|
UTSW |
17 |
34194941 |
missense |
probably damaging |
1.00 |
|
R1893:Tap1
|
UTSW |
17 |
34194941 |
missense |
probably damaging |
1.00 |
|
R1952:Tap1
|
UTSW |
17 |
34193507 |
missense |
probably damaging |
1.00 |
|
R2163:Tap1
|
UTSW |
17 |
34189473 |
splice site |
probably null |
|
|
R3744:Tap1
|
UTSW |
17 |
34193612 |
missense |
probably damaging |
1.00 |
|
R3883:Tap1
|
UTSW |
17 |
34193258 |
missense |
probably damaging |
1.00 |
|
R3975:Tap1
|
UTSW |
17 |
34189567 |
unclassified |
probably benign |
|
|
R4418:Tap1
|
UTSW |
17 |
34188379 |
splice site |
probably null |
|
|
R4779:Tap1
|
UTSW |
17 |
34193891 |
missense |
probably damaging |
1.00 |
|
R4913:Tap1
|
UTSW |
17 |
34193494 |
missense |
possibly damaging |
0.94 |
|
R5715:Tap1
|
UTSW |
17 |
34192894 |
nonsense |
probably null |
|
|
R5838:Tap1
|
UTSW |
17 |
34193305 |
nonsense |
probably null |
|
|
R6248:Tap1
|
UTSW |
17 |
34193177 |
missense |
probably damaging |
0.99 |
|
R6710:Tap1
|
UTSW |
17 |
34188109 |
missense |
possibly damaging |
0.50 |
|
R6881:Tap1
|
UTSW |
17 |
34188034 |
missense |
probably damaging |
0.99 |
|
R7437:Tap1
|
UTSW |
17 |
34190642 |
nonsense |
probably null |
|
|
R7514:Tap1
|
UTSW |
17 |
34196665 |
missense |
probably damaging |
1.00 |
|
R7618:Tap1
|
UTSW |
17 |
34188238 |
missense |
possibly damaging |
0.94 |
|
R7968:Tap1
|
UTSW |
17 |
34194912 |
missense |
probably damaging |
0.99 |
|
R8115:Tap1
|
UTSW |
17 |
34193319 |
splice site |
probably null |
|
|
R8322:Tap1
|
UTSW |
17 |
34193189 |
missense |
probably damaging |
1.00 |
|
R8539:Tap1
|
UTSW |
17 |
34189435 |
missense |
probably benign |
|
|
R8751:Tap1
|
UTSW |
17 |
34193159 |
missense |
probably benign |
0.14 |
|
R8883:Tap1
|
UTSW |
17 |
34187893 |
missense |
unknown |
|
|
R8885:Tap1
|
UTSW |
17 |
34189562 |
critical splice donor site |
probably null |
|
|
R9191:Tap1
|
UTSW |
17 |
34194982 |
critical splice donor site |
probably null |
|
|
R9232:Tap1
|
UTSW |
17 |
34193303 |
missense |
probably benign |
0.00 |
|
R9604:Tap1
|
UTSW |
17 |
34193198 |
missense |
probably damaging |
0.99 |
|
R9656:Tap1
|
UTSW |
17 |
34193551 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGCCCTTGAGAAGTTTGATG -3'
(R):5'- ACGGGAGGATCAGTTGTCTC -3'
Sequencing Primer
(F):5'- CCCTTGAGAAGTTTGATGTAGCC -3'
(R):5'- TCCTTCCTGAGACAGAGTCCCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation