Mutagenetix > Incidental Mutations

Incidental Mutation 'R6248:Tap1'

505644

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

Accession Numbers

Genbank: NM_013683; MGI: 98483

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34187553-34197225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34193177 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 452 (E452V)

Ref Sequence

ENSEMBL: ENSMUSP00000128401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025196] [ENSMUST00000041633] [ENSMUST00000170086] [ENSMUST00000173441]

Predicted Effect

probably benign
Transcript: ENSMUST00000025196

SMART Domains

Protein: ENSMUSP00000025196
Gene: ENSMUSG00000024338

Domain	Start	End	E-Value	Type
Pfam:Proteasome	69	251	1.9e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000041633
AA Change: E424V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: E424V

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

noncoding transcript
Transcript: ENSMUST00000166287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168351

Predicted Effect

probably damaging
Transcript: ENSMUST00000170086
AA Change: E452V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: E452V

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

unknown
Transcript: ENSMUST00000171148
AA Change: E121V

SMART Domains

Protein: ENSMUSP00000130189
Gene: ENSMUSG00000037321
AA Change: E121V

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: ENSMUST00000173441

SMART Domains

Protein: ENSMUSP00000134664
Gene: ENSMUSG00000024338

Domain	Start	End	E-Value	Type
Pfam:Proteasome	69	248	6.3e-53	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

100% (92/92)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 160,075,408	S83P	possibly damaging	Het
Actr10	A	T	12: 70,952,959	E176D	probably benign	Het
Adcy3	G	A	12: 4,208,662		probably null	Het
AI429214	T	A	8: 36,994,124	I142N	probably damaging	Het
Alox12	A	G	11: 70,253,110	L148S	probably damaging	Het
Ank3	A	G	10: 69,973,850	I1147V	probably benign	Het
Apoc2	C	T	7: 19,673,568	V12I	probably benign	Het
Arap3	T	C	18: 37,991,354	S311G	probably benign	Het
Arih2	G	T	9: 108,611,642	H292Q	probably damaging	Het
Cdc14a	A	T	3: 116,308,194	D312E	probably benign	Het
Cdh12	T	G	15: 21,237,714	W12G	possibly damaging	Het
Cisd2	A	T	3: 135,408,855	N118K	probably damaging	Het
Cntnap5b	A	G	1: 100,072,102	Q195R	probably benign	Het
Cyp2r1	A	G	7: 114,562,731		probably null	Het
Cyp4f37	A	G	17: 32,629,890	D244G	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dido1	T	A	2: 180,660,255	H1952L	probably damaging	Het
Dnah10	T	A	5: 124,794,219		probably null	Het
Dnal4	T	A	15: 79,762,513	M56L	probably damaging	Het
Emilin2	A	G	17: 71,274,117	V538A	probably benign	Het
Eps8l2	A	G	7: 141,342,102	D31G	probably damaging	Het
Erp44	A	T	4: 48,219,479	L112*	probably null	Het
Etl4	C	T	2: 20,809,089	T1907I	possibly damaging	Het
Exoc3	A	G	13: 74,182,281	F510L	probably benign	Het
Fam114a2	G	T	11: 57,493,116	T324K	possibly damaging	Het
Fer1l4	G	A	2: 156,046,171	R465C	probably damaging	Het
Frmd4b	A	C	6: 97,459,212	S2R	probably benign	Het
Fscn1	A	T	5: 142,961,023	D192V	possibly damaging	Het
Gm15922	C	A	7: 3,736,338	E510D	probably benign	Het
Gm3486	T	A	14: 41,484,515	*200C	probably null	Het
Gusb	A	T	5: 130,000,525	H138Q	probably benign	Het
Hdac9	A	T	12: 34,528,294	M4K	possibly damaging	Het
Hhipl1	G	T	12: 108,318,705	R439L	probably benign	Het
Hoxd9	A	G	2: 74,698,636	E194G	probably benign	Het
Itgb1	A	G	8: 128,722,421	S503G	possibly damaging	Het
Kcnt2	T	A	1: 140,509,478	C500S	probably damaging	Het
Kdm7a	G	A	6: 39,147,049	S727L	possibly damaging	Het
Klhdc4	A	G	8: 121,813,768	F92L	probably damaging	Het
Klrb1a	A	G	6: 128,619,174	V62A	probably damaging	Het
Krit1	A	G	5: 3,813,032		probably null	Het
Krt40	A	G	11: 99,541,740	I150T	possibly damaging	Het
Larp4b	A	G	13: 9,158,702	T464A	probably benign	Het
Lrrc52	T	G	1: 167,466,395	D107A	probably damaging	Het
Mapkap1	G	T	2: 34,518,680	V35F	probably damaging	Het
Mccc1	A	G	3: 35,990,164	V171A	probably damaging	Het
Metap1d	A	T	2: 71,515,760	R222*	probably null	Het
Mrgpre	G	A	7: 143,780,866	A300V	probably benign	Het
Mterf1b	C	A	5: 4,196,606	N82K	probably benign	Het
Myh9	C	T	15: 77,785,222	W533*	probably null	Het
Myom2	A	G	8: 15,098,472		probably null	Het
Ncor1	G	A	11: 62,366,982	P329S	probably damaging	Het
Nr2f1	T	C	13: 78,196,492		probably benign	Het
Olfr1348	A	T	7: 6,501,676	C183*	probably null	Het
Olfr1361	A	T	13: 21,659,074	I83N	possibly damaging	Het
Olfr417	T	G	1: 174,369,670	V251G	probably benign	Het
Olfr47	C	T	6: 43,235,904	Q99*	probably null	Het
Olfr551	T	C	7: 102,588,030	T238A	probably benign	Het
Olfr800	A	G	10: 129,660,663	I286V	probably benign	Het
Olfr96	T	A	17: 37,225,560	L145*	probably null	Het
Pcdha11	T	C	18: 37,005,897	L193P	probably benign	Het
Pcdhb20	T	A	18: 37,506,232	F604I	probably damaging	Het
Pde1a	T	C	2: 79,878,201	H291R	probably damaging	Het
Pfkm	G	A	15: 98,126,379	V423M	probably damaging	Het
Pkd2l1	G	T	19: 44,157,669	Q149K	probably benign	Het
Pkhd1l1	T	A	15: 44,529,559	N1763K	probably benign	Het
Pla2g4a	G	A	1: 149,872,587	T282I	probably damaging	Het
Prpf39	A	C	12: 65,042,754	N89H	probably damaging	Het
Rad54l2	A	G	9: 106,710,338	F743L	probably damaging	Het
Raver2	A	G	4: 101,134,123		probably null	Het
Ric8b	T	C	10: 84,947,845	L189P	probably damaging	Het
Sccpdh	T	C	1: 179,668,392	F13L	probably benign	Het
Scd2	T	C	19: 44,303,009	F296L	probably damaging	Het
Scg2	G	T	1: 79,436,306	D233E	probably benign	Het
Sema5b	C	A	16: 35,628,007		probably null	Het
Skint5	A	T	4: 113,779,089	V644E	unknown	Het
Slc44a5	G	T	3: 154,264,041	V612F	possibly damaging	Het
Snd1	C	T	6: 28,520,235	R107*	probably null	Het
Sun5	G	T	2: 153,860,669	T189K	probably damaging	Het
Tcam1	A	G	11: 106,282,826	N32S	probably benign	Het
Tep1	T	C	14: 50,830,258	E2167G	probably damaging	Het
Tm9sf1	C	T	14: 55,636,370	R557H	probably damaging	Het
Tmem175	T	C	5: 108,645,955	V317A	probably damaging	Het
Tsga13	A	G	6: 30,897,204	V231A	probably benign	Het
Tspan12	A	G	6: 21,799,971	S126P	probably damaging	Het
Uvrag	G	T	7: 98,988,191	D143E	probably damaging	Het
Vmn1r230	T	A	17: 20,846,774	M75K	possibly damaging	Het
Vmn2r120	A	T	17: 57,545,287	F10I	probably benign	Het
Vmn2r57	T	C	7: 41,399,860	T822A	probably benign	Het
Vmn2r67	T	C	7: 85,150,560	Y490C	probably damaging	Het
Zc3h7b	T	A	15: 81,783,185	W644R	probably damaging	Het
Zeb1	A	G	18: 5,766,962	D491G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp831	A	T	2: 174,644,515	T328S	possibly 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
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
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
R8146:Tap1	UTSW	17	34189232	missense	probably damaging	0.98
R8322:Tap1	UTSW	17	34193189	missense	probably damaging	1.00
R8539:Tap1	UTSW	17	34189435	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTTCACCCAGGCTGTTCAG -3'
(R):5'- TTCCAGGATGCAGGGTGAAC -3'

Sequencing Primer
(F):5'- ACCCAGGCTGTTCAGGTGAG -3'
(R):5'- TGCAGGGTGAACGTCAGC -3'

Posted On

2018-02-28