Mutagenetix > Incidental Mutations

Incidental Mutation 'R1566:Tap1'

175309

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

039605-MU

Accession Numbers

Genbank: NM_013683; MGI: 98483

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1566 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

34187553-34197225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34189546 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 253 (L253Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128401 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000041633
AA Change: L253Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: L253Q

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 benign
Transcript: ENSMUST00000170086
AA Change: L253Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: L253Q

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

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: ENSMUST00000179593

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	A	11: 109,788,806	I247F	probably benign	Het
Afap1l1	T	C	18: 61,755,643	N119S	probably benign	Het
Ap2a1	T	C	7: 44,903,480	D721G	probably benign	Het
Ap3m2	C	T	8: 22,803,951	V28M	probably damaging	Het
Arhgef7	A	G	8: 11,782,620	T32A	possibly damaging	Het
Avl9	C	T	6: 56,736,482	R242*	probably null	Het
Bsn	G	A	9: 108,125,985	T407I	probably benign	Het
Capn3	A	T	2: 120,502,993	R627S	possibly damaging	Het
Car13	G	A	3: 14,650,698	R92Q	probably benign	Het
Clcn1	T	C	6: 42,291,440	I149T	possibly damaging	Het
Col1a2	G	T	6: 4,523,613	G514V	probably damaging	Het
Ctsw	C	A	19: 5,465,417	C347F	probably damaging	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Eml1	T	A	12: 108,471,892	V97D	probably damaging	Het
Epb41l1	A	G	2: 156,521,959	E796G	probably benign	Het
Gdnf	A	G	15: 7,834,414	K102R	probably benign	Het
Gm1110	T	C	9: 26,880,870	E618G	probably damaging	Het
Gm8300	A	T	12: 87,517,231	H112L	probably benign	Het
Gmnc	T	C	16: 26,963,939	D22G	probably damaging	Het
Greb1	T	C	12: 16,711,828	D517G	possibly damaging	Het
Gsta1	A	T	9: 78,242,459	K185*	probably null	Het
Ift88	A	G	14: 57,441,011	D160G	probably benign	Het
Intu	T	A	3: 40,692,578	I627N	probably damaging	Het
Itgav	T	A	2: 83,736,630	F101L	probably damaging	Het
Kars	C	T	8: 111,997,658	V475I	probably benign	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Klra7	A	G	6: 130,231,601	V6A	probably damaging	Het
Krtap6-2	A	G	16: 89,419,738	S114P	unknown	Het
Ldlrad4	T	C	18: 68,250,598	S122P	probably benign	Het
Lig4	C	A	8: 9,973,650	L43F	probably benign	Het
Mfsd4a	T	C	1: 132,059,179	D137G	probably damaging	Het
Mmel1	C	T	4: 154,883,653	R149C	probably damaging	Het
Morc2b	T	A	17: 33,136,974	H608L	probably benign	Het
Mrgpra6	G	A	7: 47,188,904	T182I	probably benign	Het
Nat8l	C	A	5: 34,000,856	N203K	probably benign	Het
Nin	A	T	12: 70,054,479	V448E	probably damaging	Het
Olfr1053	G	A	2: 86,314,785	T167I	probably benign	Het
Olfr164	T	A	16: 19,286,327	M139L	possibly damaging	Het
Olfr17	T	G	7: 107,097,552	F29C	probably damaging	Het
Olfr178	T	A	16: 58,889,540	I227F	probably damaging	Het
Pank4	T	C	4: 154,980,521	L759P	probably damaging	Het
Pcm1	T	A	8: 41,290,773	N1152K	probably damaging	Het
Pitpnm3	A	T	11: 72,058,959		probably null	Het
Plekhg3	T	C	12: 76,572,065	M497T	possibly damaging	Het
Ppfia3	T	C	7: 45,340,688	D1138G	probably damaging	Het
Prl6a1	T	A	13: 27,315,427	S59R	possibly damaging	Het
Pth2r	A	G	1: 65,388,538	S457G	possibly damaging	Het
Rbm25	T	A	12: 83,675,054	N671K	probably damaging	Het
Rbm26	T	A	14: 105,160,544	K47N	unknown	Het
Ryr1	T	A	7: 29,092,175	I1435F	possibly damaging	Het
Scin	T	A	12: 40,081,674	H287L	probably benign	Het
Serpinb9e	T	C	13: 33,253,494	L120P	probably damaging	Het
Slc34a1	A	C	13: 55,412,031		probably null	Het
Slc39a10	A	G	1: 46,836,085	F19S	possibly damaging	Het
Sos1	A	G	17: 80,453,916	V117A	probably damaging	Het
Spta1	C	A	1: 174,184,706	N359K	probably benign	Het
Sspo	G	A	6: 48,466,870		probably null	Het
Stx5a	T	A	19: 8,742,311	D13E	probably damaging	Het
Supt16	G	A	14: 52,176,655	A489V	probably damaging	Het
Tmc6	A	G	11: 117,769,436	S659P	probably damaging	Het
Tnfsf14	T	C	17: 57,193,876	D65G	probably benign	Het
Ttc28	G	A	5: 111,225,677	S962N	probably damaging	Het
Ugt8a	T	C	3: 125,875,558	Y299C	probably damaging	Het
Upk1a	A	G	7: 30,609,720	V59A	possibly damaging	Het
Usp38	T	C	8: 80,984,803	T868A	probably benign	Het
Wdsub1	G	A	2: 59,876,715	H58Y	probably damaging	Het
Zc3h7b	T	C	15: 81,768,834	S19P	possibly damaging	Het
Zfp385b	A	C	2: 77,415,913	F257V	probably benign	Het
Zmym4	A	C	4: 126,911,147	I188S	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
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
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
R8751:Tap1	UTSW	17	34193159	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AAGGAGACAACTGATCCTCCCGTG -3'
(R):5'- GGTCCTTTAGGAAATGGAGACCCTCG -3'

Sequencing Primer
(F):5'- GTCTCTGACTCTAGCACAGCG -3'
(R):5'- CGTGTGTGGCGGTATAGAGATTA -3'

Posted On

2014-04-24