Mutagenetix > Incidental Mutations

Incidental Mutation 'R2214:Tapbp'

241050

Institutional Source

Beutler Lab

Gene Symbol

Tapbp

Ensembl Gene

ENSMUSG00000024308

Gene Name

TAP binding protein

Synonyms

TPN, tapasin, D17Wsu91e

MMRRC Submission

040216-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R2214 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33915899-33929288 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33920326 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 90 (F90L)

Ref Sequence

ENSEMBL: ENSMUSP00000134695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025161] [ENSMUST00000053429] [ENSMUST00000079421] [ENSMUST00000170075] [ENSMUST00000172619] [ENSMUST00000174146] [ENSMUST00000174463] [ENSMUST00000174541]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025161
AA Change: F99L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308
AA Change: F99L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	48	65	N/A	INTRINSIC
low complexity region	127	152	N/A	INTRINSIC
IG	168	292	3.45e0	SMART
IG_like	302	406	4.78e1	SMART
transmembrane domain	416	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053429

SMART Domains

Protein: ENSMUSP00000057466
Gene: ENSMUSG00000051390

Domain	Start	End	E-Value	Type
low complexity region	3	30	N/A	INTRINSIC
BTB	57	151	7.21e-22	SMART
low complexity region	152	176	N/A	INTRINSIC
low complexity region	317	355	N/A	INTRINSIC
low complexity region	390	403	N/A	INTRINSIC
low complexity region	431	443	N/A	INTRINSIC
low complexity region	460	479	N/A	INTRINSIC
ZnF_C2H2	483	504	1.24e2	SMART
ZnF_C2H2	510	532	1.28e-3	SMART
ZnF_C2H2	538	559	4.69e0	SMART
low complexity region	567	587	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079421

SMART Domains

Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307

Domain	Start	End	E-Value	Type
low complexity region	11	20	N/A	INTRINSIC
Pfam:Daxx	54	152	1.3e-51	PFAM
Blast:KISc	185	261	2e-17	BLAST
PDB:4H9S\|F	189	404	1e-131	PDB
SCOP:d1sig__	437	493	7e-3	SMART
low complexity region	573	584	N/A	INTRINSIC
low complexity region	693	715	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170075

SMART Domains

Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307

Domain	Start	End	E-Value	Type
Pfam:Daxx	1	740	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172489

SMART Domains

Protein: ENSMUSP00000133332
Gene: ENSMUSG00000024308

Domain	Start	End	E-Value	Type
IG	18	142	3.45e0	SMART
SCOP:d2fbjh2	143	189	2e-3	SMART
Blast:IG_like	152	206	6e-31	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172619
AA Change: F90L

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134695
Gene: ENSMUSG00000024308
AA Change: F90L

Domain	Start	End	E-Value	Type
PDB:3F8U\|D	12	119	1e-38	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173279

Predicted Effect

probably benign
Transcript: ENSMUST00000174146

SMART Domains

Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307

Domain	Start	End	E-Value	Type
Pfam:Daxx	1	740	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174463

SMART Domains

Protein: ENSMUSP00000133345
Gene: ENSMUSG00000051390

Domain	Start	End	E-Value	Type
low complexity region	3	30	N/A	INTRINSIC
Pfam:BTB	47	87	7.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174541

SMART Domains

Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307

Domain	Start	End	E-Value	Type
Pfam:Daxx	1	702	1.5e-297	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189156

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced and thermolabile MHC class I surface expression due to impaired peptide loading with stabilizing peptides, impaired T cell selection, altered NK repertoire, lower CD8+ T cell numbers, and impaired responses to select class I-restricted antigens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 31,108,128	Y516C	probably benign	Het
Adam22	C	T	5: 8,136,805		probably null	Het
Akap8l	T	C	17: 32,338,825		probably null	Het
BC003965	T	C	17: 25,184,725	V13A	probably benign	Het
Casr	T	C	16: 36,515,758	Y63C	probably damaging	Het
Ccdc178	T	C	18: 21,914,990	D781G	possibly damaging	Het
Col9a1	C	A	1: 24,208,202	P168Q	probably damaging	Het
Dnm2	T	C	9: 21,485,723		probably null	Het
Dst	C	T	1: 34,271,401	T6325M	probably damaging	Het
Ercc4	C	A	16: 13,110,024	D19E	probably damaging	Het
Gm1110	C	A	9: 26,902,490	V198L	probably benign	Het
Gm8674	T	A	13: 49,901,360		noncoding transcript	Het
Grm7	A	T	6: 111,358,997	I790F	probably damaging	Het
Habp2	A	G	19: 56,317,817	D445G	possibly damaging	Het
Kat7	G	A	11: 95,275,805	T517I	probably damaging	Het
Kbtbd11	T	A	8: 15,029,178	D592E	possibly damaging	Het
Lgals8	T	A	13: 12,454,832	Q82L	probably benign	Het
Lmtk3	A	G	7: 45,794,853		probably benign	Het
Map2	A	T	1: 66,420,186	D1530V	probably damaging	Het
Map2k6	G	A	11: 110,496,341	V180I	probably damaging	Het
Map3k5	T	A	10: 20,026,289		probably null	Het
Mtor	A	G	4: 148,538,870	E2059G	probably benign	Het
Myh10	A	G	11: 68,783,127	D660G	probably damaging	Het
Myo16	T	A	8: 10,438,803	V658E	probably damaging	Het
Nckap5	A	T	1: 126,025,750	S1090T	possibly damaging	Het
Nhlrc3	T	C	3: 53,456,454	H217R	probably damaging	Het
Ntrk3	T	A	7: 78,516,772	I118F	probably damaging	Het
Olfr1181	C	T	2: 88,423,117	V303M	probably benign	Het
Olfr305	T	A	7: 86,364,206	I44F	probably benign	Het
Olfr389	A	T	11: 73,776,829	L166*	probably null	Het
Paxip1	T	C	5: 27,742,501	Y1053C	probably damaging	Het
Pfkfb4	T	A	9: 109,005,609	F117I	probably benign	Het
Pp2d1	T	C	17: 53,515,396	Y214C	probably benign	Het
Prr7	C	A	13: 55,472,800	S207*	probably null	Het
Ptprh	T	A	7: 4,552,922	Q715L	possibly damaging	Het
Rasgrp1	A	T	2: 117,285,165	D647E	probably damaging	Het
Rnf20	T	A	4: 49,648,344	M384K	possibly damaging	Het
Rps6kb1	A	T	11: 86,534,070	C37S	possibly damaging	Het
Serpinb9f	C	A	13: 33,334,609	T364K	probably benign	Het
Sorbs1	C	T	19: 40,296,631	A641T	probably damaging	Het
Srrm2	T	C	17: 23,816,745		probably benign	Het
Stag3	C	T	5: 138,301,266	S849L	possibly damaging	Het
Syt15	A	T	14: 34,223,032	S179C	probably damaging	Het
Timm23	A	T	14: 32,198,987	D49E	probably damaging	Het
Tmcc1	C	CAT	6: 116,042,870		probably null	Het
Tmem174	A	C	13: 98,637,249	S24R	possibly damaging	Het
Tmem63a	A	G	1: 180,961,114	S339G	probably benign	Het
Tsc22d2	A	G	3: 58,416,206	Y173C	probably damaging	Het
Ubap2	A	G	4: 41,199,714		probably null	Het
Upp1	T	A	11: 9,136,033	V290E	probably benign	Het
Usp17lb	A	T	7: 104,841,432	M96K	probably benign	Het
Wdr20rt	A	G	12: 65,227,413	E449G	probably damaging	Het
Zkscan8	A	T	13: 21,520,912	S286T	probably benign	Het

Other mutations in Tapbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Tapbp	APN	17	33919892	missense	probably benign
IGL00229:Tapbp	APN	17	33925704	missense	probably damaging	1.00
R0002:Tapbp	UTSW	17	33925632	missense	probably damaging	0.98
R0416:Tapbp	UTSW	17	33925418	missense	probably damaging	0.99
R0800:Tapbp	UTSW	17	33926253	missense	probably benign	0.39
R0839:Tapbp	UTSW	17	33925743	missense	probably benign	0.00
R1584:Tapbp	UTSW	17	33919940	unclassified	probably null
R1617:Tapbp	UTSW	17	33920431	missense	probably benign	0.06
R3941:Tapbp	UTSW	17	33920483	missense	possibly damaging	0.91
R4570:Tapbp	UTSW	17	33926453	missense	probably damaging	1.00
R4571:Tapbp	UTSW	17	33926453	missense	probably damaging	1.00
R4935:Tapbp	UTSW	17	33925622	missense	probably benign	0.02
R6195:Tapbp	UTSW	17	33919982	missense	probably damaging	1.00
R6233:Tapbp	UTSW	17	33919982	missense	probably damaging	1.00
R6468:Tapbp	UTSW	17	33926098	missense	probably damaging	1.00
R6736:Tapbp	UTSW	17	33919957	missense	possibly damaging	0.85
R7139:Tapbp	UTSW	17	33920048	missense	possibly damaging	0.46
R7146:Tapbp	UTSW	17	33925487	missense	possibly damaging	0.93
R7233:Tapbp	UTSW	17	33919969	missense	probably damaging	0.99
R7448:Tapbp	UTSW	17	33920417	missense	possibly damaging	0.70
R7630:Tapbp	UTSW	17	33920344	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGACTTACCTGCATCTGTCG -3'
(R):5'- TGTTGCCATGGTGATGACGAC -3'

Sequencing Primer
(F):5'- AATACGTTTGGATGCTCTCTAAGTCG -3'
(R):5'- CATGGTGATGACGACAGGCTC -3'

Posted On

2014-10-15