Mutagenetix > Incidental Mutation

Incidental Mutation 'R7233:Tapbp'

562665

Institutional Source

Beutler Lab

Gene Symbol

Tapbp

Ensembl Gene

ENSMUSG00000024308

Gene Name

TAP binding protein

Synonyms

TPN, D17Wsu91e, tapasin

MMRRC Submission

045343-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34138452-34148264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34138943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 46 (A46S)

Ref Sequence

ENSEMBL: ENSMUSP00000025161 (fasta)

Gene Model

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

AlphaFold

Q9R233

Predicted Effect

probably damaging
Transcript: ENSMUST00000025161
AA Change: A46S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308
AA Change: A46S

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

probably damaging
Transcript: ENSMUST00000172619
AA Change: A37S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134695
Gene: ENSMUSG00000024308
AA Change: A37S

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

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,762,641 (GRCm39)	K505R	probably benign	Het
Arhgap24	A	G	5: 103,026,367 (GRCm39)	K263E	probably benign	Het
Ark2n	C	A	18: 77,722,882 (GRCm39)	V385F	probably damaging	Het
Armc2	A	T	10: 41,799,800 (GRCm39)	V686D	probably damaging	Het
Bhmt	T	A	13: 93,758,025 (GRCm39)	K229*	probably null	Het
Birc2	A	T	9: 7,827,009 (GRCm39)	C326S	probably damaging	Het
Blzf1	A	T	1: 164,123,512 (GRCm39)		probably null	Het
Camsap3	T	A	8: 3,650,371 (GRCm39)	F223Y	probably damaging	Het
Ccdc126	C	T	6: 49,316,775 (GRCm39)	T85M	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2h	T	A	8: 105,744,088 (GRCm39)	C279S	probably damaging	Het
Cfap44	T	A	16: 44,242,771 (GRCm39)	L725Q	probably damaging	Het
Cibar2	A	G	8: 120,898,661 (GRCm39)	L131P	probably damaging	Het
Clip1	T	C	5: 123,749,922 (GRCm39)	E987G	probably damaging	Het
Cog1	G	T	11: 113,540,556 (GRCm39)	R57L	probably damaging	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnttip2	T	C	3: 122,070,039 (GRCm39)	V418A	probably benign	Het
Dop1a	G	A	9: 86,403,749 (GRCm39)	A186T	probably benign	Het
Efcab3	T	C	11: 104,730,669 (GRCm39)	S1966P	possibly damaging	Het
Engase	T	A	11: 118,373,827 (GRCm39)	V323E	probably damaging	Het
Farsb	A	G	1: 78,447,718 (GRCm39)		probably null	Het
Fpr2	G	T	17: 18,113,766 (GRCm39)	W254L	probably damaging	Het
Frmd3	A	C	4: 73,932,023 (GRCm39)	H6P	probably benign	Het
Fscn1	C	T	5: 142,956,029 (GRCm39)	S366L	possibly damaging	Het
Galt	T	A	4: 41,758,267 (GRCm39)	I344N	probably benign	Het
Gfra4	A	T	2: 130,883,037 (GRCm39)	V194E	probably damaging	Het
Golgb1	T	C	16: 36,735,120 (GRCm39)	S1497P	possibly damaging	Het
Igfn1	A	C	1: 135,897,873 (GRCm39)	S898A	probably benign	Het
Igkv1-135	T	C	6: 67,587,332 (GRCm39)	S68P	probably benign	Het
Lama2	A	T	10: 27,107,659 (GRCm39)	C784S	probably damaging	Het
Lars2	G	T	9: 123,241,019 (GRCm39)	G229*	probably null	Het
Lats2	A	T	14: 57,960,151 (GRCm39)		probably null	Het
Lgr6	A	C	1: 134,928,214 (GRCm39)		probably null	Het
Lrp1	A	T	10: 127,430,930 (GRCm39)	I373N	probably damaging	Het
Maml2	A	T	9: 13,532,067 (GRCm39)	H427L		Het
Mansc1	A	G	6: 134,598,806 (GRCm39)	V37A	probably damaging	Het
Map4k3	A	G	17: 80,905,077 (GRCm39)	V738A	possibly damaging	Het
Mastl	A	G	2: 23,023,670 (GRCm39)	I351T	probably benign	Het
Mcmdc2	T	G	1: 10,002,408 (GRCm39)		probably null	Het
Mrgprd	A	G	7: 144,875,672 (GRCm39)	D181G	possibly damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Msra	T	C	14: 64,360,714 (GRCm39)	Y209C	probably damaging	Het
Musk	A	G	4: 58,373,307 (GRCm39)	E759G	possibly damaging	Het
Nab1	T	C	1: 52,498,378 (GRCm39)	*487W	probably null	Het
Or2z9	A	G	8: 72,853,900 (GRCm39)	T99A	probably benign	Het
Or5p66	T	A	7: 107,885,923 (GRCm39)	T137S	probably benign	Het
Pkdrej	A	G	15: 85,705,349 (GRCm39)	S196P	probably damaging	Het
Pln	A	G	10: 53,220,008 (GRCm39)	T17A	probably damaging	Het
Polrmt	A	T	10: 79,581,619 (GRCm39)		probably null	Het
Ppp1r14a	T	A	7: 28,988,949 (GRCm39)	Y64N	probably damaging	Het
Ppp1r9a	A	T	6: 5,134,804 (GRCm39)	H959L	probably benign	Het
Pramel42	A	T	5: 94,685,524 (GRCm39)	M395L	probably benign	Het
Prmt7	A	G	8: 106,946,642 (GRCm39)	T75A	probably damaging	Het
Prom1	T	C	5: 44,194,816 (GRCm39)	S319G	possibly damaging	Het
Prtg	G	A	9: 72,819,273 (GRCm39)	G1089S	probably benign	Het
Ptprd	T	C	4: 75,978,020 (GRCm39)	D596G	probably benign	Het
Rbm12	C	T	2: 155,937,894 (GRCm39)	G793S	unknown	Het
Rora	A	T	9: 69,104,804 (GRCm39)	R43*	probably null	Het
Sez6	T	C	11: 77,863,963 (GRCm39)	Y482H	probably damaging	Het
Skint2	A	T	4: 112,483,122 (GRCm39)	N176Y	probably damaging	Het
Slc44a2	G	T	9: 21,259,445 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,089,044 (GRCm39)	V606A	possibly damaging	Het
Spa17	T	C	9: 37,514,587 (GRCm39)		probably null	Het
Syne1	A	C	10: 5,252,160 (GRCm39)	L2498R	probably damaging	Het
Synpo2	T	G	3: 122,911,333 (GRCm39)	H104P	probably benign	Het
Tbc1d30	C	A	10: 121,107,962 (GRCm39)	R480L	probably benign	Het
Tshz1	T	C	18: 84,032,944 (GRCm39)	D488G	possibly damaging	Het
Ulk1	A	G	5: 110,956,908 (GRCm39)	L70P	probably damaging	Het
Zcchc17	T	A	4: 130,221,116 (GRCm39)	D145V	probably damaging	Het
Zfp318	T	A	17: 46,716,978 (GRCm39)	L1037M	probably damaging	Het
Zfp324	C	T	7: 12,704,524 (GRCm39)	Q238*	probably null	Het
Zfp874a	A	G	13: 67,590,776 (GRCm39)	Y303H	possibly damaging	Het
Zfp975	T	C	7: 42,311,918 (GRCm39)	K232E	probably benign	Het
Zfp982	T	A	4: 147,597,718 (GRCm39)	N358K	probably benign	Het
Zmiz1	C	T	14: 25,650,092 (GRCm39)	P417S	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
R6468:Tapbp	UTSW	17	34,145,072 (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
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'- GGTGAGCAGACCCCATTTCTTC -3'
(R):5'- CGACTTAGAGAGCATCCAAACG -3'

Sequencing Primer
(F):5'- CTTGTTTAGGAATAGACACACTGGG -3'
(R):5'- GCATCCAAACGTATTTACAAAAGGG -3'

Posted On

2019-06-26