Mutagenetix > Incidental Mutation

Incidental Mutation 'R7146:Tapbp'

553842

Institutional Source

Beutler Lab

Gene Symbol

Tapbp

Ensembl Gene

ENSMUSG00000024308

Gene Name

TAP binding protein

Synonyms

TPN, D17Wsu91e, tapasin

MMRRC Submission

045251-MU

Accession Numbers

Essential gene?

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

Stock #

R7146 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34138452-34148264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34144461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 186 (A186T)

Ref Sequence

ENSEMBL: ENSMUSP00000025161 (fasta)

Gene Model

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

AlphaFold

Q9R233

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025161
AA Change: A186T

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308
AA Change: A186T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

95% (99/104)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,854,520 (GRCm39)	I895F	probably benign	Het
Abca16	A	G	7: 120,126,974 (GRCm39)	N1222D	possibly damaging	Het
Abcc4	A	T	14: 118,852,593 (GRCm39)	Y499N	probably damaging	Het
Adgrg7	A	C	16: 56,550,605 (GRCm39)	C702W	probably damaging	Het
Adk	C	A	14: 21,376,682 (GRCm39)	P27H		Het
Ankrd13a	T	C	5: 114,913,293 (GRCm39)	S2P	probably damaging	Het
Ano1	T	C	7: 144,209,393 (GRCm39)	H269R	probably benign	Het
Aox3	T	A	1: 58,197,688 (GRCm39)		probably null	Het
Asl	G	A	5: 130,053,290 (GRCm39)		probably benign	Het
Asxl2	A	T	12: 3,507,066 (GRCm39)	D86V	probably damaging	Het
Ate1	A	T	7: 130,083,508 (GRCm39)		probably null	Het
Bach2	A	G	4: 32,562,670 (GRCm39)	D379G	probably damaging	Het
Bdkrb1	T	A	12: 105,571,142 (GRCm39)	L236Q	probably damaging	Het
Cacna2d3	T	C	14: 29,443,654 (GRCm39)	Y24C	unknown	Het
Cage1	G	T	13: 38,207,025 (GRCm39)	N273K	probably benign	Het
Ccdc51	T	A	9: 108,920,848 (GRCm39)	I245N	probably damaging	Het
Cep152	T	C	2: 125,456,325 (GRCm39)	I229V	probably benign	Het
Chst4	T	A	8: 110,757,363 (GRCm39)	S167C	probably damaging	Het
Cntnap4	A	T	8: 113,537,268 (GRCm39)	Y713F	probably damaging	Het
Cntnap5b	G	A	1: 99,978,519 (GRCm39)		probably null	Het
Cog8	G	T	8: 107,779,005 (GRCm39)	T424K	possibly damaging	Het
Cop1	T	G	1: 159,071,922 (GRCm39)		probably null	Het
Cyp2j6	A	G	4: 96,434,019 (GRCm39)	I97T	probably damaging	Het
D430041D05Rik	T	C	2: 104,088,698 (GRCm39)	T131A	probably benign	Het
Dnah17	T	C	11: 117,972,936 (GRCm39)	D1999G	probably damaging	Het
Dnah8	A	G	17: 30,863,591 (GRCm39)	D250G	probably benign	Het
Dnah8	T	C	17: 30,988,618 (GRCm39)	V3196A	possibly damaging	Het
Dscam	A	T	16: 96,631,117 (GRCm39)	Y299*	probably null	Het
Efcab3	A	G	11: 104,858,578 (GRCm39)	N3879S	unknown	Het
Efcab3	A	C	11: 104,913,764 (GRCm39)	D4594A	probably benign	Het
Ephb1	A	G	9: 101,841,157 (GRCm39)	S774P	probably damaging	Het
Fat1	G	A	8: 45,403,962 (GRCm39)	V238I	probably benign	Het
Fermt1	C	T	2: 132,776,785 (GRCm39)	M234I	probably benign	Het
Fmnl2	C	T	2: 52,958,552 (GRCm39)	S212L		Het
Frem1	T	C	4: 82,840,532 (GRCm39)	N1798S	possibly damaging	Het
Gabrd	T	A	4: 155,469,863 (GRCm39)	M449L	probably benign	Het
Gad1	T	C	2: 70,417,706 (GRCm39)	F302L	probably benign	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Gm21886	GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA	GGGCCTGTAGACAGTAGGTGCTCA	18: 80,132,697 (GRCm39)		probably benign	Het
Gnb3	C	T	6: 124,813,887 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,271,993 (GRCm39)	M642K	possibly damaging	Het
Hps3	A	T	3: 20,063,050 (GRCm39)	W838R	probably damaging	Het
Ide	A	T	19: 37,273,343 (GRCm39)	W527R		Het
Ighe	A	T	12: 113,235,975 (GRCm39)	I117N		Het
Ighv1-50	T	C	12: 115,083,396 (GRCm39)	E108G	probably benign	Het
Ivl	G	A	3: 92,479,538 (GRCm39)	P176S	probably damaging	Het
Lamb2	T	A	9: 108,361,283 (GRCm39)	L605Q	possibly damaging	Het
Lgi3	G	A	14: 70,770,832 (GRCm39)	R157H	probably damaging	Het
Lrp1b	G	T	2: 41,266,006 (GRCm39)	C1053*	probably null	Het
Mcpt9	A	T	14: 56,264,445 (GRCm39)	S217T	probably damaging	Het
Mgat4c	T	G	10: 102,224,357 (GRCm39)	N190K	probably damaging	Het
Mknk1	T	A	4: 115,721,789 (GRCm39)	V111D	probably damaging	Het
Mmp11	T	C	10: 75,764,280 (GRCm39)	T62A	probably benign	Het
Mmp1b	C	A	9: 7,385,014 (GRCm39)	V212F	probably damaging	Het
Mmp7	A	G	9: 7,697,587 (GRCm39)		probably null	Het
Muc5b	C	T	7: 141,417,704 (GRCm39)	T3550M	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nphp3	A	T	9: 103,882,036 (GRCm39)	K169*	probably null	Het
Npy6r	G	T	18: 44,408,788 (GRCm39)	V70F	probably benign	Het
Nsun2	T	A	13: 69,774,672 (GRCm39)		probably null	Het
Oplah	T	A	15: 76,186,860 (GRCm39)	I652F	probably benign	Het
Pcdh18	T	C	3: 49,710,271 (GRCm39)	N348S	probably damaging	Het
Pcdhb5	T	A	18: 37,454,409 (GRCm39)	V263D	probably damaging	Het
Pcdhga1	C	A	18: 37,795,164 (GRCm39)	T56N	probably benign	Het
Pdk4	A	G	6: 5,491,068 (GRCm39)		probably null	Het
Pfkp	C	A	13: 6,652,817 (GRCm39)	V434F	probably benign	Het
Phospho1	G	A	11: 95,721,732 (GRCm39)	R134H	probably damaging	Het
Polg2	G	T	11: 106,663,572 (GRCm39)	Q374K	probably benign	Het
Ptpra	T	C	2: 130,379,571 (GRCm39)		probably null	Het
Rassf3	C	T	10: 121,252,052 (GRCm39)	E120K	probably benign	Het
Reln	A	T	5: 22,311,095 (GRCm39)	S273T	probably damaging	Het
Scarb1	C	T	5: 125,361,089 (GRCm39)	A133T	probably benign	Het
Scn3a	T	A	2: 65,313,486 (GRCm39)	K1142N	probably damaging	Het
Sema3c	G	A	5: 17,899,701 (GRCm39)	V398I	probably benign	Het
Serpine1	C	A	5: 137,099,918 (GRCm39)	Q80H	probably damaging	Het
Sh3gl1	G	A	17: 56,324,646 (GRCm39)	T334M	probably damaging	Het
Smg7	T	C	1: 152,737,576 (GRCm39)	N122D	probably benign	Het
Speer4b	T	C	5: 27,703,708 (GRCm39)	I144V	probably benign	Het
Spire2	T	A	8: 124,095,989 (GRCm39)	D671E	probably benign	Het
Sspo	A	T	6: 48,478,029 (GRCm39)	H5144L	probably benign	Het
Sstr2	A	T	11: 113,516,179 (GRCm39)	Q366L	probably damaging	Het
Ssu72	T	C	4: 155,815,850 (GRCm39)	F98S	probably damaging	Het
Syde2	C	T	3: 145,712,870 (GRCm39)	Q1003*	probably null	Het
Tcf12	T	A	9: 71,790,385 (GRCm39)		probably null	Het
Tnfrsf22	A	T	7: 143,194,556 (GRCm39)	C124S	probably damaging	Het
Txlnb	A	T	10: 17,703,546 (GRCm39)	T235S	possibly damaging	Het
Uaca	T	C	9: 60,777,695 (GRCm39)	L694P	probably damaging	Het
Unc13a	T	A	8: 72,083,197 (GRCm39)	N1620Y	probably damaging	Het
Vmn2r10	C	T	5: 109,151,200 (GRCm39)	C138Y	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r28	T	A	7: 5,484,495 (GRCm39)	E568D	probably benign	Het
Vmn2r57	A	T	7: 41,097,895 (GRCm39)	H57Q	possibly damaging	Het
Vwa5b1	A	G	4: 138,308,923 (GRCm39)	S756P	probably benign	Het
Washc5	C	A	15: 59,224,350 (GRCm39)	E470*	probably null	Het
Xpot	A	T	10: 121,442,678 (GRCm39)	V508D	probably damaging	Het
Zfp616	A	T	11: 73,976,087 (GRCm39)	K785N	possibly damaging	Het
Zfp653	T	C	9: 21,977,195 (GRCm39)	N119D	probably damaging	Het
Zfp729b	A	G	13: 67,741,495 (GRCm39)	S257P	probably damaging	Het
Zfp82	T	A	7: 29,755,592 (GRCm39)	T497S	probably benign	Het
Znrf4	T	G	17: 56,819,305 (GRCm39)	M1L	probably benign	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
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'- AGGGCTGCAAACCTCTCATC -3'
(R):5'- CAAGCTGCAAATGCCGTAGC -3'

Sequencing Primer
(F):5'- ATTGTAAATGGATGTGTCCCTGAAGC -3'
(R):5'- AAATGCCGTAGCCTTTTCCTGG -3'

Posted On

2019-05-15