Mutagenetix > Incidental Mutations

Incidental Mutation 'R4779:Tap1'

368195

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

MMRRC Submission

Accession Numbers

Genbank: NM_013683; MGI: 98483

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34187553-34197225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34193891 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 560 (V560A)

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: V532A

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

SMART Domains

Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: V532A

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: V560A

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

SMART Domains

Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: V560A

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

probably benign
Transcript: ENSMUST00000171148

SMART Domains

Protein: ENSMUSP00000130189
Gene: ENSMUSG00000037321

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

noncoding transcript
Transcript: ENSMUST00000172960

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

Meta Mutation Damage Score

0.7314

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (95/97)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,218,838	S1624P	probably benign	Het
4930562C15Rik	T	A	16: 4,849,749	S335T	unknown	Het
4933421I07Rik	T	A	7: 42,448,031	H13L	possibly damaging	Het
6030468B19Rik	A	G	11: 117,806,008	T185A	probably benign	Het
Abcc1	T	A	16: 14,410,771	V294E	probably benign	Het
Abhd16b	A	G	2: 181,493,460	T52A	possibly damaging	Het
Actl7a	A	T	4: 56,743,632	N53I	probably benign	Het
Ankmy1	T	C	1: 92,886,723	E354G	probably benign	Het
Arap1	T	C	7: 101,404,367	F1301S	probably damaging	Het
Arfgef1	A	T	1: 10,153,733	W1447R	probably damaging	Het
Atoh7	ATGGCGCT	AT	10: 63,100,408		probably benign	Het
BC067074	A	T	13: 113,368,336	N2000Y	possibly damaging	Het
Ccl24	T	A	5: 135,572,957	T6S	possibly damaging	Het
Cep152	G	T	2: 125,568,892	P1292Q	possibly damaging	Het
Cfap46	T	C	7: 139,659,815		probably benign	Het
Chd6	A	T	2: 160,949,557	S2627T	probably damaging	Het
Chd8	A	T	14: 52,231,506	S552T	probably damaging	Het
Ciita	C	A	16: 10,511,366	L502M	probably damaging	Het
Clic1	T	C	17: 35,052,487	F31S	probably damaging	Het
Cntnap1	T	A	11: 101,178,072	I147N	possibly damaging	Het
Crispld1	T	A	1: 17,749,607	D276E	probably benign	Het
Cspg4	A	T	9: 56,885,808	N276Y	probably damaging	Het
Cwf19l2	A	G	9: 3,410,035	M55V	possibly damaging	Het
Cyp2c69	T	C	19: 39,877,594	N185S	probably benign	Het
Dopey2	T	C	16: 93,757,081	I301T	probably damaging	Het
Epg5	T	C	18: 77,991,365	V1443A	probably benign	Het
Ephb4	T	C	5: 137,365,702	V612A	probably benign	Het
Fcgbp	T	A	7: 28,094,937	C1189S	probably damaging	Het
Fgfr2	T	G	7: 130,185,193		probably benign	Het
Fmn2	A	G	1: 174,609,895	E1144G	probably damaging	Het
Fmo3	T	C	1: 162,968,838	Y55C	probably damaging	Het
Frmpd1	A	G	4: 45,229,865	T11A	probably damaging	Het
Ghdc	G	T	11: 100,770,103	Q79K	possibly damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm5591	T	C	7: 38,522,256	T130A	probably damaging	Het
Heg1	T	G	16: 33,719,772	D367E	probably benign	Het
Igkv13-84	C	T	6: 68,939,910	P64S	probably damaging	Het
Il10rb	T	A	16: 91,414,657	S128T	possibly damaging	Het
Il15ra	T	A	2: 11,718,306	I47N	probably damaging	Het
Il33	C	A	19: 29,958,911	S207*	probably null	Het
Itgb7	A	G	15: 102,224,413	Y155H	possibly damaging	Het
Kdm5a	A	G	6: 120,369,099		probably benign	Het
Kif11	G	A	19: 37,417,949	V987I	probably benign	Het
Krtap19-2	G	A	16: 88,873,874		probably benign	Het
Krtap24-1	T	A	16: 88,611,529	R236S	probably damaging	Het
L3mbtl2	A	G	15: 81,682,612	I406V	probably benign	Het
Lrp2	A	T	2: 69,459,715	H3593Q	possibly damaging	Het
Mavs	G	T	2: 131,240,365	W56C	probably damaging	Het
Mn1	C	T	5: 111,419,660	P499S	probably damaging	Het
Ntn5	T	A	7: 45,691,471	C178S	probably damaging	Het
Nufip2	A	G	11: 77,686,328	H34R	unknown	Het
Olfr470	T	A	7: 107,845,548	M62L	possibly damaging	Het
Olfr523	T	A	7: 140,176,450	L110Q	probably damaging	Het
Osbpl10	C	T	9: 115,109,530	S86L	probably damaging	Het
Pitpna	T	A	11: 75,620,327	M242K	possibly damaging	Het
Pnpla6	T	C	8: 3,522,838	V345A	probably benign	Het
Polk	A	G	13: 96,496,491		probably null	Het
Polr3k	A	G	2: 181,864,547	Y30C	probably damaging	Het
Pramel6	A	G	2: 87,509,597	H235R	probably benign	Het
Ptpra	G	A	2: 130,537,617	V364I	probably damaging	Het
Recql	A	G	6: 142,363,700		probably benign	Het
Ring1	T	C	17: 34,022,289		probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Samsn1	C	A	16: 75,947,289		noncoding transcript	Het
Scara5	A	G	14: 65,730,749	H157R	probably benign	Het
Sdc3	C	T	4: 130,819,065	P245L	probably damaging	Het
Slc18b1	T	A	10: 23,820,869	M318K	possibly damaging	Het
Slc26a10	C	T	10: 127,173,355	A638T	possibly damaging	Het
Slc35f2	T	A	9: 53,809,729	W259R	possibly damaging	Het
Spata13	G	A	14: 60,753,907	W366*	probably null	Het
Sptlc3	A	G	2: 139,589,589	T344A	probably benign	Het
Tbc1d1	T	C	5: 64,278,046		probably null	Het
Tlr11	A	G	14: 50,361,250	Y231C	possibly damaging	Het
Tmem245	A	T	4: 56,936,468	S230T	possibly damaging	Het
Tnnt3	C	T	7: 142,514,283		probably benign	Het
Traf7	C	G	17: 24,510,438		probably benign	Het
Tshz2	A	G	2: 169,962,681		probably benign	Het
Tshz3	T	C	7: 36,768,972	S129P	probably damaging	Het
Ttc6	A	T	12: 57,729,451	N1727I	probably damaging	Het
Ttc7b	A	G	12: 100,403,362	S383P	probably damaging	Het
Tulp3	T	A	6: 128,323,120	I448F	probably damaging	Het
Ube3b	T	C	5: 114,404,717		probably null	Het
Vav1	G	A	17: 57,296,552	V84I	probably damaging	Het
Vav3	A	T	3: 109,508,794	K243I	possibly damaging	Het
Vmn1r25	T	A	6: 57,979,026	I93F	probably damaging	Het
Vmn2r73	C	T	7: 85,871,715	W348*	probably null	Het
Zdbf2	A	G	1: 63,303,238	R259G	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
joplin	UTSW	17	34193258	missense	probably damaging	1.00
rose2	UTSW	17	34194941	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	unclassified	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	unclassified	probably null
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
R6248:Tap1	UTSW	17	34193177	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- TGCCTGGTCCAGTATGATCAC -3'
(R):5'- GGAGAGTGCAGATACCTGTG -3'

Sequencing Primer
(F):5'- GGTCCAGTATGATCACCATTACCTG -3'
(R):5'- AGATACCTGTGTCATAGCCCTGAG -3'

Posted On

2015-12-29