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
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
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
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'- TGCCTGGTCCAGTATGATCAC -3'
(R):5'- GGAGAGTGCAGATACCTGTG -3'

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

Posted On

2015-12-29