Mutagenetix > Incidental Mutations

Incidental Mutation 'R4418:Tap1'

326974

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

041139-MU

Accession Numbers

Genbank: NM_013683; MGI: 98483

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34187553-34197225 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 34188379 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041633] [ENSMUST00000170086] [ENSMUST00000171321] [ENSMUST00000173831] [ENSMUST00000174576]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041633
AA Change: L167Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: L167Q

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: ENSMUST00000114230

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: L167Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: L167Q

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 null
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

probably benign
Transcript: ENSMUST00000171321

Predicted Effect

probably benign
Transcript: ENSMUST00000173831

SMART Domains

Protein: ENSMUSP00000134120
Gene: ENSMUSG00000096727

Domain	Start	End	E-Value	Type
Pfam:Proteasome	1	64	2.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174576

SMART Domains

Protein: ENSMUSP00000133499
Gene: ENSMUSG00000096727

Domain	Start	End	E-Value	Type
Pfam:Proteasome	17	198	1.2e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179593

Meta Mutation Damage Score

0.8002

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (72/76)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,261,287		probably null	Het
4930523C07Rik	A	G	1: 160,044,802		noncoding transcript	Het
5430419D17Rik	A	T	7: 131,247,465	D899V	possibly damaging	Het
Acot12	A	G	13: 91,784,405	T507A	possibly damaging	Het
Agap2	T	G	10: 127,091,650	C1113W	probably damaging	Het
Ap3s1-ps2	A	T	8: 94,405,293		noncoding transcript	Het
B3gnt3	T	C	8: 71,693,769	R39G	probably benign	Het
Bahd1	G	A	2: 118,922,523	R757H	probably damaging	Het
Chad	C	T	11: 94,567,837	H271Y	possibly damaging	Het
Chil4	G	A	3: 106,203,727	P284S	possibly damaging	Het
Col6a1	T	A	10: 76,718,405	K323*	probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dclre1c	T	C	2: 3,452,935	F285S	possibly damaging	Het
Dctn2	T	G	10: 127,278,365	M360R	probably benign	Het
Dgka	A	T	10: 128,728,094	L462Q	probably damaging	Het
Drg2	A	C	11: 60,468,146	K364T	probably damaging	Het
Dync1li1	T	A	9: 114,706,170	S167R	probably damaging	Het
Fam189a2	T	C	19: 23,979,435	T365A	probably benign	Het
Fer	A	T	17: 64,029,291	D554V	possibly damaging	Het
Fignl2	A	G	15: 101,053,949	S151P	possibly damaging	Het
Gbgt1	A	G	2: 28,498,408	Y35C	probably damaging	Het
Gm6526	T	A	14: 43,748,845	I79K	probably damaging	Het
Gm884	T	C	11: 103,618,314		probably benign	Het
Gpr6	T	G	10: 41,070,608	N326T	probably damaging	Het
Hcn4	C	T	9: 58,843,895	T268M	probably benign	Het
Hist1h2bc	C	T	13: 23,684,503	T91M	probably damaging	Het
Hnf4g	A	G	3: 3,648,094	M243V	possibly damaging	Het
Homer1	A	G	13: 93,402,069	E314G	probably damaging	Het
Hs6st1	T	C	1: 36,104,027	Y348H	probably damaging	Het
Ifitm6	A	T	7: 141,016,071	I103N	probably damaging	Het
Ipo5	T	G	14: 120,943,893	C944G	possibly damaging	Het
Kcnb1	C	A	2: 167,105,675	E418*	probably null	Het
Kcnk2	G	A	1: 189,256,727	R207C	probably damaging	Het
Kctd8	T	C	5: 69,341,162	E47G	probably damaging	Het
Klhdc2	C	T	12: 69,307,597		probably benign	Het
Mgat1	A	G	11: 49,261,245	Y185C	probably damaging	Het
Mmp25	T	A	17: 23,644,070	R122S	probably damaging	Het
Mrpl39	C	A	16: 84,725,124		probably null	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nek1	T	C	8: 61,106,864	F1007S	probably damaging	Het
Neto1	T	C	18: 86,404,856	M146T	probably benign	Het
Opn1sw	G	A	6: 29,379,424	R45*	probably null	Het
Osbpl5	A	T	7: 143,709,815	C98*	probably null	Het
Pcdhb7	C	T	18: 37,343,482	A557V	probably benign	Het
Pecam1	A	G	11: 106,695,922	F155L	possibly damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Pmfbp1	C	A	8: 109,530,633	Q609K	probably benign	Het
Pnpo	A	T	11: 96,940,969		probably null	Het
Ppp2cb	G	A	8: 33,617,049	R254Q	probably benign	Het
Qser1	A	T	2: 104,789,421	S349T	probably damaging	Het
Rnf167	T	A	11: 70,647,917	W17R	probably damaging	Het
Rpl21-ps4	A	G	14: 11,227,879		noncoding transcript	Het
Rxfp2	A	T	5: 150,048,800	H158L	probably benign	Het
Ryr3	C	T	2: 112,831,224	C1807Y	probably damaging	Het
Scaper	T	A	9: 55,838,180	E601D	probably damaging	Het
Secisbp2l	A	T	2: 125,752,915	C542S	probably benign	Het
Slc6a19	A	G	13: 73,684,395	V393A	possibly damaging	Het
Stil	A	G	4: 115,009,377	N176S	probably benign	Het
Tcl1b3	A	T	12: 105,193,585	Q105L	probably damaging	Het
Tmem206	T	A	1: 191,348,432	V283E	probably damaging	Het
Trappc10	G	T	10: 78,217,188	A251D	probably damaging	Het
Trim43a	G	T	9: 88,582,153	C39F	probably damaging	Het
Ttn	A	T	2: 76,889,481		probably benign	Het
Vmn2r110	A	T	17: 20,583,689	L208*	probably null	Het
Vmn2r88	G	T	14: 51,418,081	L583F	probably damaging	Het
Wasf1	C	T	10: 40,936,582	H456Y	unknown	Het
Zfp120	A	G	2: 150,118,185	I73T	possibly damaging	Het
Zfp990	T	C	4: 145,536,728	C99R	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
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
R8539:Tap1	UTSW	17	34189435	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACAGTCGTCCAGATGCCTTC -3'
(R):5'- TGATGTGAAGTTCTGCTCCCAG -3'

Sequencing Primer
(F):5'- AGATGCCTTCGCTATCAGTTATG -3'
(R):5'- TCTGCTCCCAGAAGACCCTG -3'

Posted On

2015-07-07