Mutagenetix > Incidental Mutation

Incidental Mutation 'R6468:Tapbp'

516453

Institutional Source

Beutler Lab

Gene Symbol

Tapbp

Ensembl Gene

ENSMUSG00000024308

Gene Name

TAP binding protein

Synonyms

TPN, D17Wsu91e, tapasin

MMRRC Submission

044601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34138452-34148264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34145072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 323 (F323S)

Ref Sequence

ENSEMBL: ENSMUSP00000025161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025161] [ENSMUST00000047503]

AlphaFold

Q9R233

Predicted Effect

probably damaging
Transcript: ENSMUST00000025161
AA Change: F323S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308
AA Change: F323S

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: ENSMUST00000047503

SMART Domains

Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	44	63	N/A	INTRINSIC
RasGEFN	87	212	9.54e-30	SMART
RasGEF	239	514	7.15e-106	SMART
low complexity region	578	592	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	633	648	N/A	INTRINSIC
RA	649	736	2.05e-19	SMART
low complexity region	737	762	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172468

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

noncoding transcript
Transcript: ENSMUST00000172653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174676

Meta Mutation Damage Score

0.8463

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (57/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,177,747 (GRCm39)	V305A	possibly damaging	Het
Adgrl4	A	G	3: 151,198,012 (GRCm39)	T91A	probably benign	Het
Ano6	A	G	15: 95,865,595 (GRCm39)	I860V	probably benign	Het
B3galnt1	A	G	3: 69,482,866 (GRCm39)	S132P	probably damaging	Het
Bltp1	T	C	3: 37,062,592 (GRCm39)	I3368T	probably damaging	Het
Btbd10	A	T	7: 112,946,266 (GRCm39)	V33E	probably benign	Het
Cacna1g	A	T	11: 94,330,548 (GRCm39)	V989D	probably damaging	Het
Celsr3	A	G	9: 108,712,989 (GRCm39)	D1807G	probably benign	Het
Chd6	A	G	2: 160,854,987 (GRCm39)	M807T	probably damaging	Het
Cpxm2	T	C	7: 131,672,589 (GRCm39)	D320G	probably damaging	Het
Cryzl1	A	C	16: 91,489,413 (GRCm39)		probably null	Het
Dcbld2	A	T	16: 58,253,736 (GRCm39)	K158*	probably null	Het
Depdc5	A	G	5: 33,069,575 (GRCm39)	N437S	probably benign	Het
Dock7	G	A	4: 98,855,464 (GRCm39)	S1496L	probably benign	Het
Eea1	T	G	10: 95,864,274 (GRCm39)	I931R	probably benign	Het
Eif2ak4	C	A	2: 118,266,722 (GRCm39)	L714I	probably damaging	Het
Enpep	A	G	3: 129,125,509 (GRCm39)		probably null	Het
Fam83b	T	A	9: 76,409,413 (GRCm39)	K238*	probably null	Het
Fam83f	A	G	15: 80,576,312 (GRCm39)	Y321C	possibly damaging	Het
Fanci	A	G	7: 79,067,687 (GRCm39)	I42V	probably benign	Het
Flg2	A	T	3: 93,121,728 (GRCm39)	R1299S	unknown	Het
Gak	G	T	5: 108,771,202 (GRCm39)	C102*	probably null	Het
Gcnt7	A	G	2: 172,295,993 (GRCm39)	L277P	probably damaging	Het
Gucy2d	A	G	7: 98,099,168 (GRCm39)	E329G	probably benign	Het
Hacd1	T	C	2: 14,040,755 (GRCm39)	I167V	probably damaging	Het
Hdlbp	T	A	1: 93,345,389 (GRCm39)	D662V	possibly damaging	Het
Hspa4	A	T	11: 53,155,883 (GRCm39)	V674E	probably benign	Het
Hunk	A	G	16: 90,290,320 (GRCm39)	Q442R	possibly damaging	Het
Lce1j	A	T	3: 92,696,729 (GRCm39)	C16*	probably null	Het
Lrat	A	T	3: 82,810,799 (GRCm39)	M74K	probably damaging	Het
Lrig2	G	A	3: 104,374,509 (GRCm39)	R191C	probably damaging	Het
Lrrc37a	A	C	11: 103,351,666 (GRCm39)	F2558L	unknown	Het
Mctp1	T	A	13: 76,879,930 (GRCm39)		probably null	Het
Mecom	T	A	3: 30,194,535 (GRCm39)		probably benign	Het
Mgst1	A	G	6: 138,118,585 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,970,534 (GRCm39)	E3A	probably benign	Het
Myo1d	T	C	11: 80,448,300 (GRCm39)	I942V	probably benign	Het
Neu2	A	G	1: 87,524,600 (GRCm39)	Y195C	probably damaging	Het
Nipa1	A	T	7: 55,669,252 (GRCm39)	V22E	probably benign	Het
Or4n4b	A	T	14: 50,535,924 (GRCm39)	L281I	probably benign	Het
Or6c35	T	C	10: 129,169,580 (GRCm39)	S277P	possibly damaging	Het
Or8k25	T	A	2: 86,244,381 (GRCm39)	N5I	probably damaging	Het
Pik3r4	A	G	9: 105,562,389 (GRCm39)	T1223A	possibly damaging	Het
Ppl	T	C	16: 4,910,305 (GRCm39)	D811G	probably damaging	Het
Prep	T	A	10: 44,991,203 (GRCm39)	Y290N	probably damaging	Het
Ptk6	A	T	2: 180,840,895 (GRCm39)	H215Q	probably benign	Het
Rad50	A	G	11: 53,582,971 (GRCm39)	I474T	possibly damaging	Het
Rnf213	T	A	11: 119,343,513 (GRCm39)	V3626E	possibly damaging	Het
Scn4a	C	T	11: 106,236,502 (GRCm39)	V253M	probably damaging	Het
Snta1	T	A	2: 154,219,069 (GRCm39)	D422V	probably damaging	Het
Spata31h1	G	T	10: 82,131,150 (GRCm39)	T620K	probably benign	Het
Stk38	A	G	17: 29,203,086 (GRCm39)	L160P	probably benign	Het
Uggt1	C	T	1: 36,212,531 (GRCm39)	R937Q	probably benign	Het
Vash2	G	A	1: 190,710,484 (GRCm39)	P57L	probably damaging	Het
Vmn1r4	G	A	6: 56,933,852 (GRCm39)	V119I	probably benign	Het
Vmn2r74	T	C	7: 85,610,599 (GRCm39)	D31G	probably benign	Het
Zfp114	T	C	7: 23,877,206 (GRCm39)	V16A	possibly damaging	Het

Other mutations in Tapbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Tapbp	APN	17	34,138,866 (GRCm39)	missense	probably benign
IGL00229:Tapbp	APN	17	34,144,678 (GRCm39)	missense	probably damaging	1.00
R0002:Tapbp	UTSW	17	34,144,606 (GRCm39)	missense	probably damaging	0.98
R0416:Tapbp	UTSW	17	34,144,392 (GRCm39)	missense	probably damaging	0.99
R0800:Tapbp	UTSW	17	34,145,227 (GRCm39)	missense	probably benign	0.39
R0839:Tapbp	UTSW	17	34,144,717 (GRCm39)	missense	probably benign	0.00
R1584:Tapbp	UTSW	17	34,138,914 (GRCm39)	splice site	probably null
R1617:Tapbp	UTSW	17	34,139,405 (GRCm39)	missense	probably benign	0.06
R2214:Tapbp	UTSW	17	34,139,300 (GRCm39)	missense	possibly damaging	0.90
R3941:Tapbp	UTSW	17	34,139,457 (GRCm39)	missense	possibly damaging	0.91
R4570:Tapbp	UTSW	17	34,145,427 (GRCm39)	missense	probably damaging	1.00
R4571:Tapbp	UTSW	17	34,145,427 (GRCm39)	missense	probably damaging	1.00
R4935:Tapbp	UTSW	17	34,144,596 (GRCm39)	missense	probably benign	0.02
R6195:Tapbp	UTSW	17	34,138,956 (GRCm39)	missense	probably damaging	1.00
R6233:Tapbp	UTSW	17	34,138,956 (GRCm39)	missense	probably damaging	1.00
R6736:Tapbp	UTSW	17	34,138,931 (GRCm39)	missense	possibly damaging	0.85
R7139:Tapbp	UTSW	17	34,139,022 (GRCm39)	missense	possibly damaging	0.46
R7146:Tapbp	UTSW	17	34,144,461 (GRCm39)	missense	possibly damaging	0.93
R7233:Tapbp	UTSW	17	34,138,943 (GRCm39)	missense	probably damaging	0.99
R7448:Tapbp	UTSW	17	34,139,391 (GRCm39)	missense	possibly damaging	0.70
R7630:Tapbp	UTSW	17	34,139,318 (GRCm39)	missense	probably benign	0.02
R8545:Tapbp	UTSW	17	34,139,291 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GGCATCTGAAAGCTTTAACATGGG -3'
(R):5'- AGTGAACTCCATGCTGCTTG -3'

Sequencing Primer
(F):5'- AGCGCCCCCTGCAGTATTAG -3'
(R):5'- CTTGGCAGTGACTGGAGGTAGC -3'

Posted On

2018-05-21