Mutagenetix > Incidental Mutations

Incidental Mutation 'R1893:Tap1'

211755

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

039913-MU

Accession Numbers

Genbank: NM_013683; MGI: 98483

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34187553-34197225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34194941 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 643 (D643E)

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: D615E

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

SMART Domains

Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: D615E

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: D643E

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

SMART Domains

Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: D643E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173770

Meta Mutation Damage Score

0.9625

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

99% (99/100)

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
2210408I21Rik	T	C	13: 77,267,809	Y674H	possibly damaging	Het
Aars2	G	A	17: 45,514,799	R347Q	probably benign	Het
Abca15	A	T	7: 120,340,553	M293L	possibly damaging	Het
Abcb7	A	T	X: 104,342,536	H97Q	probably damaging	Het
Aldh1l2	G	T	10: 83,492,536	N772K	probably damaging	Het
Ascc2	T	A	11: 4,672,305	L457Q	probably benign	Het
Aspm	T	A	1: 139,479,867	I2164N	probably damaging	Het
Cabs1	A	G	5: 87,980,035	T182A	probably benign	Het
Carmil1	T	C	13: 24,024,463	E833G	possibly damaging	Het
Ccdc102a	G	A	8: 94,913,543	T41M	probably damaging	Het
Clec2h	T	C	6: 128,670,832	V48A	probably benign	Het
Cpb2	G	A	14: 75,255,963	V27I	probably benign	Het
Cr2	T	C	1: 195,155,187	H1201R	probably benign	Het
Cyp2d9	T	C	15: 82,452,606	V52A	probably damaging	Het
Cyp4a12a	C	A	4: 115,326,667	N223K	probably benign	Het
Cyp7b1	G	A	3: 18,096,567	S336L	possibly damaging	Het
D230025D16Rik	G	T	8: 105,246,501	V248F	probably damaging	Het
Dnah10	T	C	5: 124,754,317	V803A	probably benign	Het
Dnah17	T	A	11: 118,066,968	T2745S	probably benign	Het
E330021D16Rik	A	G	6: 136,401,827	S2P	possibly damaging	Het
Ep300	T	A	15: 81,631,646		probably benign	Het
Epha3	A	G	16: 63,568,399	S829P	probably damaging	Het
Fads3	C	A	19: 10,056,504	H418N	probably benign	Het
Fat1	T	C	8: 45,023,856	S1980P	probably damaging	Het
Fgf20	T	C	8: 40,279,803	E198G	possibly damaging	Het
Fgl2	G	A	5: 21,375,671	R337H	probably benign	Het
Gbp2	G	T	3: 142,630,172		probably benign	Het
Gja10	G	A	4: 32,601,541	S281L	probably benign	Het
Gm5422	G	A	10: 31,249,613		noncoding transcript	Het
Gmpr	T	A	13: 45,520,947	D129E	possibly damaging	Het
Gtf3c4	C	T	2: 28,834,362	V453I	possibly damaging	Het
Heatr6	T	C	11: 83,757,314	V111A	probably benign	Het
Hipk3	G	A	2: 104,433,256	R905W	probably damaging	Het
Hpn	T	A	7: 31,099,348	D103V	probably damaging	Het
Ipcef1	G	A	10: 6,900,680	R304W	probably damaging	Het
Iqcb1	A	G	16: 36,831,883	D52G	probably damaging	Het
Klhdc7b	C	T	15: 89,387,695		probably null	Het
Klhl1	A	T	14: 96,240,206		probably null	Het
Lrrn1	A	T	6: 107,568,122	I294F	possibly damaging	Het
Map3k1	A	T	13: 111,768,033	F406I	possibly damaging	Het
Map4k4	T	A	1: 40,001,557	V579E	probably benign	Het
Mapre2	A	G	18: 23,853,717	K62R	probably damaging	Het
Mdga1	A	T	17: 29,849,226	Y305N	probably damaging	Het
Mgl2	T	A	11: 70,134,167		probably null	Het
Mnx1	C	T	5: 29,477,830	G149D	unknown	Het
Mtbp	T	A	15: 55,557,668	S17T	probably benign	Het
Neu3	T	C	7: 99,823,420	T37A	possibly damaging	Het
Nr1i3	T	C	1: 171,217,223		probably null	Het
Odf3l1	A	G	9: 56,849,214	Y173H	probably benign	Het
Olfr118	A	T	17: 37,672,856	K278*	probably null	Het
Olfr466	T	A	13: 65,152,992	M256K	possibly damaging	Het
Olfr522	T	C	7: 140,162,821	N43S	probably damaging	Het
Olfr981	A	T	9: 40,022,974	I194F	possibly damaging	Het
Osr2	A	G	15: 35,300,462	T55A	possibly damaging	Het
Palld	A	G	8: 61,516,621	V981A	probably damaging	Het
Pbx1	A	T	1: 168,203,410	M213K	possibly damaging	Het
Pcdhb12	C	A	18: 37,437,083	H427Q	probably benign	Het
Perm1	C	T	4: 156,217,883	R295C	probably benign	Het
Polm	T	C	11: 5,835,574	T162A	possibly damaging	Het
Prox1	A	G	1: 190,160,518		probably benign	Het
Ptpn7	A	T	1: 135,134,903	T127S	probably benign	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Rab21	T	C	10: 115,290,900	T181A	probably benign	Het
Rab38	A	T	7: 88,490,716	T198S	probably benign	Het
Rnase4	C	G	14: 51,104,938	Q40E	possibly damaging	Het
Rnf213	T	A	11: 119,416,448	W645R	probably damaging	Het
Rnf8	A	G	17: 29,621,550	I51M	probably damaging	Het
Sbpl	T	A	17: 23,953,267	D226V	unknown	Het
Sdf4	T	G	4: 156,000,748	I180S	probably benign	Het
Simc1	A	G	13: 54,539,715	K99R	probably damaging	Het
Slc2a4	T	C	11: 69,946,572	Q49R	probably damaging	Het
Slco1a4	T	C	6: 141,834,616		probably null	Het
Slco5a1	C	A	1: 12,894,472	C527F	probably damaging	Het
Sox6	T	A	7: 115,544,568	N405I	probably benign	Het
Sphkap	G	A	1: 83,278,966	P354L	probably benign	Het
Spi1	A	G	2: 91,114,357	D149G	probably benign	Het
Sptan1	T	A	2: 30,020,460	D1812E	probably damaging	Het
Sub1	A	T	15: 11,991,044	V37E	possibly damaging	Het
Sult2a6	T	C	7: 14,225,889	T240A	probably benign	Het
Tacc2	A	G	7: 130,625,325	S1247G	probably benign	Het
Taf4	T	C	2: 179,933,030	D594G	probably damaging	Het
Ticam1	T	C	17: 56,271,894	N67S	probably benign	Het
Tlr6	A	G	5: 64,953,213	F784L	probably damaging	Het
Tmprss15	A	G	16: 79,071,418	V202A	probably benign	Het
Trp53bp2	T	C	1: 182,431,628	V82A	probably benign	Het
Ube2o	C	T	11: 116,548,835	V170I	possibly damaging	Het
Vmn1r177	G	A	7: 23,866,148	T101I	probably benign	Het
Vmn2r68	A	T	7: 85,234,659	Y79*	probably null	Het
Wdr35	A	C	12: 8,985,994	Y255S	probably benign	Het
Zfp507	A	T	7: 35,802,627		probably benign	Het
Zfp688	G	A	7: 127,419,237	R239C	probably damaging	Het
Zfp74	T	A	7: 29,936,045		probably null	Het
Zfp932	A	G	5: 110,009,203	N223D	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTATGTGTGCCTATGTGAATGTA -3'
(R):5'- TCAGGGAGATGACACAGCAG -3'

Sequencing Primer
(F):5'- ATATGCCTATGTGAGTACGTATGTG -3'
(R):5'- GATGACACAGCAGGGTGAC -3'

Posted On

2014-06-30