Mutagenetix > Incidental Mutations

Incidental Mutation 'R2163:Tap1'

235319

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

040166-MU

Accession Numbers

Genbank: NM_013683; MGI: 98483

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2163 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

34187553-34197225 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 34189473 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133499 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041633
AA Change: M229L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: M229L

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: M229L

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: M229L

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 null
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 null
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

Meta Mutation Damage Score

0.2252

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (76/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,576,826		probably benign	Het
2410089E03Rik	T	A	15: 8,203,251		probably null	Het
4930578I07Rik	C	A	14: 66,938,548	T64K	unknown	Het
Ablim2	T	C	5: 35,802,353		probably benign	Het
Acp4	T	C	7: 44,255,976	D107G	probably damaging	Het
Adamts2	T	A	11: 50,788,805	C871S	probably benign	Het
Adamts3	A	G	5: 89,708,718	V332A	probably damaging	Het
Alkal1	C	T	1: 6,389,512	T104M	probably benign	Het
Astn1	A	G	1: 158,502,150	S192G	probably damaging	Het
Axdnd1	A	C	1: 156,392,003	V337G	probably damaging	Het
Baiap2l2	T	C	15: 79,259,195	D481G	possibly damaging	Het
Cacna2d1	C	T	5: 16,362,319	T964I	probably damaging	Het
Carf	T	C	1: 60,147,486		probably benign	Het
Catsper2	T	C	2: 121,400,175	D295G	probably damaging	Het
Cdh1	A	G	8: 106,649,081	T84A	probably benign	Het
Chd8	T	A	14: 52,198,818	H2508L	possibly damaging	Het
Chl1	A	T	6: 103,711,231	T284S	probably damaging	Het
Chtop	A	T	3: 90,502,211	M125K	probably benign	Het
Col14a1	T	A	15: 55,444,645		probably benign	Het
Cyp2b10	A	T	7: 25,925,385		probably benign	Het
Cyp2c70	G	A	19: 40,160,719	H328Y	possibly damaging	Het
Dcbld1	A	G	10: 52,286,356	T77A	probably damaging	Het
Dnah6	A	T	6: 73,089,746		probably null	Het
Efhd1	A	T	1: 87,289,473	D104V	probably damaging	Het
Eif5b	A	T	1: 38,048,794	D957V	probably benign	Het
Eps15	T	A	4: 109,370,669	S549R	probably damaging	Het
Fbxo3	C	A	2: 104,054,985	H400N	probably benign	Het
Fcer1a	A	G	1: 173,222,697	V86A	probably damaging	Het
Fh1	A	G	1: 175,614,840	M148T	possibly damaging	Het
Foxc1	C	A	13: 31,808,603	H466N	unknown	Het
Gadl1	T	A	9: 115,949,558	I180N	possibly damaging	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm21718	T	C	14: 51,317,766		noncoding transcript	Het
Gm6614	G	A	6: 141,980,938	T554I	possibly damaging	Het
Hivep2	T	A	10: 14,128,226	Y189*	probably null	Het
Hoxd13	T	A	2: 74,669,069	S254T	possibly damaging	Het
Hspd1	A	G	1: 55,078,538		probably benign	Het
Il1r1	A	G	1: 40,294,863	M198V	probably benign	Het
Katnal1	T	A	5: 148,888,936	I362F	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Mybpc1	T	C	10: 88,540,942		probably benign	Het
Mycbp2	A	G	14: 103,169,855		probably null	Het
Nell2	G	T	15: 95,429,978	N301K	probably damaging	Het
Nenf	T	A	1: 191,309,935	D108V	probably damaging	Het
Nfkbiz	T	C	16: 55,818,218	N293S	probably benign	Het
Nipbl	T	C	15: 8,336,919	K1229E	probably damaging	Het
Nlrp4a	T	C	7: 26,453,397	F631L	probably benign	Het
Nrp1	T	A	8: 128,497,871	V705E	probably damaging	Het
Nsf	G	C	11: 103,863,333	A459G	possibly damaging	Het
Olfr1128	A	G	2: 87,544,894	S217P	probably damaging	Het
Olfr366	A	G	2: 37,220,077	E196G	probably damaging	Het
Pdia4	C	T	6: 47,798,407	D490N	possibly damaging	Het
Pinlyp	T	A	7: 24,541,801	Y192F	probably benign	Het
Pkd2	T	C	5: 104,455,677		probably benign	Het
Ppara	A	G	15: 85,801,046	K399E	probably benign	Het
Ppp4r2	C	A	6: 100,865,086	N169K	probably damaging	Het
Prom1	T	A	5: 44,014,163	E632V	possibly damaging	Het
Rpap3	T	A	15: 97,680,348	Y562F	possibly damaging	Het
Rsph14	T	A	10: 74,957,779	K263N	probably damaging	Het
Scn11a	T	G	9: 119,755,025	D1508A	probably damaging	Het
Scn7a	T	C	2: 66,675,956	T1530A	probably damaging	Het
Sec14l1	T	A	11: 117,143,282		probably null	Het
Slc4a4	A	G	5: 89,214,576	I840V	probably damaging	Het
Slco1c1	T	A	6: 141,559,752	V419D	probably benign	Het
Sltm	T	A	9: 70,591,682	F1013I	probably damaging	Het
Spam1	A	G	6: 24,796,847	K266E	probably benign	Het
Syt15	A	G	14: 34,226,116	E306G	probably benign	Het
Tbc1d16	G	C	11: 119,155,078		probably benign	Het
Tex47	T	C	5: 7,305,022	Y68H	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttn	T	C	2: 76,812,501	T13264A	probably damaging	Het
Ubxn2a	A	T	12: 4,885,757	F131Y	probably damaging	Het
Usp40	T	C	1: 87,995,858		probably benign	Het
Vmn1r170	T	C	7: 23,607,037	L288P	probably damaging	Het
Vmn1r175	A	G	7: 23,808,927	Y92H	probably benign	Het
Wdpcp	G	T	11: 21,885,015	E673*	probably null	Het
Zfr	T	A	15: 12,162,223	L820I	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTCACCATAGCCAGGTGTG -3'
(R):5'- GCTGCTTCATATGGGGAACA -3'

Sequencing Primer
(F):5'- CAGGTGTGGAGGATGGGAATG -3'
(R):5'- CAGGAAAAACCCTGTCTC -3'

Posted On

2014-10-01