Mutagenetix > Incidental Mutation

Incidental Mutation 'R1795:Tap1'

202191

Institutional Source

Beutler Lab

Gene Symbol

Tap1

Ensembl Gene

ENSMUSG00000037321

Gene Name

transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)

Synonyms

TAP, Ham1, RING4, MTP1, Tap-1, Ham-1, Abcb2, PSF-1

MMRRC Submission

039825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34406530-34416199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34413899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 638 (L638P)

Ref Sequence

ENSEMBL: ENSMUSP00000128401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025196] [ENSMUST00000041633] [ENSMUST00000170086] [ENSMUST00000173441]

AlphaFold

P21958

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 benign
Transcript: ENSMUST00000041633
AA Change: L610P

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: L610P

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 benign
Transcript: ENSMUST00000170086
AA Change: L638P

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: L638P

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

noncoding transcript
Transcript: ENSMUST00000173770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172960

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: ENSMUST00000173441

SMART Domains

Protein: ENSMUSP00000134664
Gene: ENSMUSG00000024338

Domain	Start	End	E-Value	Type
Pfam:Proteasome	69	248	6.3e-53	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,941,792 (GRCm39)	I1159T	probably benign	Het
Abcc1	T	C	16: 14,283,001 (GRCm39)	V1159A	possibly damaging	Het
Abcg5	A	G	17: 84,981,007 (GRCm39)	I194T	probably damaging	Het
Abtb2	A	G	2: 103,397,369 (GRCm39)	T100A	probably benign	Het
Adam4	C	T	12: 81,468,068 (GRCm39)	M184I	probably benign	Het
Afap1l2	T	C	19: 56,916,841 (GRCm39)	D155G	probably damaging	Het
Ahnak	T	C	19: 8,979,802 (GRCm39)	V362A	possibly damaging	Het
Ak7	C	T	12: 105,692,482 (GRCm39)	R179*	probably null	Het
Akap8	C	A	17: 32,534,451 (GRCm39)	G332C	probably damaging	Het
Akr1e1	T	A	13: 4,645,071 (GRCm39)	Q204L	probably damaging	Het
Ankrd12	T	C	17: 66,293,222 (GRCm39)	E737G	possibly damaging	Het
Atrn	A	G	2: 130,814,208 (GRCm39)	D718G	probably benign	Het
Bco2	A	G	9: 50,452,469 (GRCm39)	S200P	possibly damaging	Het
C030005K15Rik	A	T	10: 97,561,648 (GRCm39)	S28T	unknown	Het
Cdc14a	T	A	3: 116,092,122 (GRCm39)	Q356L	possibly damaging	Het
Cdk5rap3	A	G	11: 96,799,654 (GRCm39)	L387P	probably damaging	Het
Celsr1	A	T	15: 85,914,524 (GRCm39)	S1150T	probably damaging	Het
Cntfr	A	G	4: 41,670,841 (GRCm39)		probably null	Het
Cramp1	T	C	17: 25,183,884 (GRCm39)	N1244D	probably damaging	Het
Csmd3	G	T	15: 47,721,316 (GRCm39)	D1542E	possibly damaging	Het
Cyp4f17	A	T	17: 32,736,943 (GRCm39)	I92F	probably benign	Het
Dhx30	A	T	9: 109,937,051 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,561,965 (GRCm39)	H120Q	probably benign	Het
Dmgdh	A	T	13: 93,843,207 (GRCm39)	M348L	probably benign	Het
Dnmt3b	G	A	2: 153,525,559 (GRCm39)	E741K	possibly damaging	Het
Dock3	T	G	9: 106,902,534 (GRCm39)	H292P	probably damaging	Het
Ercc6	T	A	14: 32,238,985 (GRCm39)	N24K	probably benign	Het
Esco2	T	C	14: 66,064,726 (GRCm39)	Q338R	probably benign	Het
Etl4	T	C	2: 20,812,837 (GRCm39)		probably null	Het
Exoc7	A	T	11: 116,183,347 (GRCm39)	I498N	probably damaging	Het
Fap	G	A	2: 62,378,933 (GRCm39)	S123L	probably damaging	Het
Foxn1	T	C	11: 78,262,051 (GRCm39)	E106G	probably benign	Het
Fscb	T	A	12: 64,521,175 (GRCm39)	D97V	probably damaging	Het
Gabrg1	T	C	5: 70,939,596 (GRCm39)	T174A	possibly damaging	Het
Gan	C	T	8: 117,923,199 (GRCm39)	A461V	possibly damaging	Het
Gbp2	T	A	3: 142,336,284 (GRCm39)	D211E	possibly damaging	Het
Gm10271	A	T	10: 116,792,746 (GRCm39)	Y47N	unknown	Het
Gm17333	G	T	16: 77,649,711 (GRCm39)		noncoding transcript	Het
Gm1758	T	A	16: 14,320,142 (GRCm39)		noncoding transcript	Het
Golga3	A	G	5: 110,355,493 (GRCm39)	K989R	possibly damaging	Het
Gucy2g	C	A	19: 55,187,973 (GRCm39)	V1041F	probably damaging	Het
Guk1	A	T	11: 59,077,639 (GRCm39)	F25I	probably benign	Het
H2al1o	C	T	X: 9,438,329 (GRCm39)	E87K	possibly damaging	Het
Hemgn	C	A	4: 46,395,958 (GRCm39)	C426F	probably damaging	Het
Hps3	A	G	3: 20,066,859 (GRCm39)		probably null	Het
Il2rb	A	T	15: 78,368,187 (GRCm39)	D287E	probably damaging	Het
Ino80	A	T	2: 119,237,340 (GRCm39)	V1123D	probably damaging	Het
Kdm2b	A	G	5: 123,122,523 (GRCm39)		probably null	Het
Kif21a	A	T	15: 90,856,930 (GRCm39)		probably null	Het
Klhl33	A	T	14: 51,129,583 (GRCm39)	N347K	probably damaging	Het
Krt1c	A	G	15: 101,724,861 (GRCm39)	F250L	possibly damaging	Het
Krt82	T	A	15: 101,451,819 (GRCm39)	N332I	possibly damaging	Het
Lgi1	A	G	19: 38,294,631 (GRCm39)	I444V	probably benign	Het
Lmod1	G	A	1: 135,252,862 (GRCm39)	V39M	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mex3d	T	C	10: 80,217,376 (GRCm39)	T149A	probably benign	Het
Mideas	A	G	12: 84,205,748 (GRCm39)		probably null	Het
Mlxipl	A	C	5: 135,136,024 (GRCm39)	D83A	probably damaging	Het
Mroh8	T	A	2: 157,111,471 (GRCm39)	E161V	probably benign	Het
Mroh9	G	A	1: 162,884,347 (GRCm39)	T397I	probably damaging	Het
Mtss1	T	C	15: 58,930,249 (GRCm39)	D32G	possibly damaging	Het
Mus81	T	C	19: 5,533,504 (GRCm39)	D495G	probably benign	Het
Neurod1	A	C	2: 79,284,673 (GRCm39)	S237A	probably benign	Het
Npas1	G	A	7: 16,208,725 (GRCm39)	R51C	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
P2ry14	T	C	3: 59,023,274 (GRCm39)	N62S	probably damaging	Het
Pcdh15	A	G	10: 74,460,087 (GRCm39)	Y1308C	probably damaging	Het
Pcdhb14	A	T	18: 37,582,588 (GRCm39)	M565L	probably benign	Het
Pde6a	A	G	18: 61,390,283 (GRCm39)	E502G	probably damaging	Het
Pde8b	A	G	13: 95,178,527 (GRCm39)	V566A	probably benign	Het
Phf11b	G	T	14: 59,565,554 (GRCm39)	Q108K	probably benign	Het
Pikfyve	T	C	1: 65,291,716 (GRCm39)	Y1312H	probably damaging	Het
Plcb3	T	C	19: 6,933,381 (GRCm39)		probably benign	Het
Plxna2	G	A	1: 194,488,611 (GRCm39)	G1629D	probably damaging	Het
Plxnb1	T	C	9: 108,929,813 (GRCm39)	V223A	probably benign	Het
Prkca	A	T	11: 107,903,518 (GRCm39)	Y285N	possibly damaging	Het
Prl2a1	A	T	13: 27,992,554 (GRCm39)	N226I	probably damaging	Het
Pus7	A	C	5: 23,946,914 (GRCm39)	M636R	probably damaging	Het
Samd9l	G	A	6: 3,375,264 (GRCm39)	Q666*	probably null	Het
Sema3d	A	G	5: 12,634,854 (GRCm39)	D640G	probably benign	Het
Slc6a15	A	G	10: 103,236,121 (GRCm39)	I279V	probably benign	Het
Slk	T	C	19: 47,608,973 (GRCm39)	V642A	possibly damaging	Het
Spata31e2	C	A	1: 26,722,070 (GRCm39)	G1037*	probably null	Het
Spta1	T	A	1: 174,073,296 (GRCm39)	M2305K	probably damaging	Het
Srrt	T	C	5: 137,301,274 (GRCm39)		probably benign	Het
Stfa2l1	A	T	16: 35,977,228 (GRCm39)	I8L	probably benign	Het
Tbccd1	A	T	16: 22,640,995 (GRCm39)	L461M	probably benign	Het
Tecta	T	C	9: 42,289,345 (GRCm39)	T407A	probably benign	Het
Tmbim7	T	C	5: 3,707,493 (GRCm39)		probably null	Het
Tnrc18	C	A	5: 142,800,869 (GRCm39)	V30L	probably benign	Het
Tomm7	A	G	5: 24,049,025 (GRCm39)	F16S	probably damaging	Het
Ugt2a2	A	G	5: 87,622,315 (GRCm39)	S428P	probably benign	Het
Vmn1r189	T	C	13: 22,286,324 (GRCm39)	E171G	probably benign	Het
Vmn1r61	T	C	7: 5,614,324 (GRCm39)		probably benign	Het
Vmn2r120	A	T	17: 57,832,038 (GRCm39)	S250R	probably benign	Het
Vmn2r8	T	C	5: 108,950,972 (GRCm39)	R158G	probably benign	Het
Vmn2r98	A	T	17: 19,286,702 (GRCm39)	Y400F	probably damaging	Het
Vps13c	C	A	9: 67,801,267 (GRCm39)	Y582*	probably null	Het
Zfp518a	T	A	19: 40,904,000 (GRCm39)	F1310I	probably benign	Het
Zswim1	A	G	2: 164,667,320 (GRCm39)	I191V	probably benign	Het

Other mutations in Tap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
rose	APN	17	34,413,914 (GRCm39)	missense	probably damaging	1.00
IGL01294:Tap1	APN	17	34,413,019 (GRCm39)	critical splice donor site	probably null
IGL01776:Tap1	APN	17	34,412,102 (GRCm39)	missense	possibly damaging	0.82
IGL01787:Tap1	APN	17	34,415,578 (GRCm39)	missense	probably benign	0.21
IGL02246:Tap1	APN	17	34,412,963 (GRCm39)	missense	probably benign	0.01
IGL02996:Tap1	APN	17	34,410,370 (GRCm39)	missense	probably damaging	1.00
IGL03278:Tap1	APN	17	34,410,457 (GRCm39)	missense	probably damaging	1.00
bullus	UTSW	17	34,408,536 (GRCm39)	critical splice donor site	probably null
entertainer	UTSW	17	34,412,293 (GRCm39)	splice site	probably null
joplin	UTSW	17	34,412,232 (GRCm39)	missense	probably damaging	1.00
ragtime	UTSW	17	34,409,616 (GRCm39)	nonsense	probably null
rose2	UTSW	17	34,413,915 (GRCm39)	missense	probably damaging	1.00
Tapestry	UTSW	17	34,412,163 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Tap1	UTSW	17	34,412,165 (GRCm39)	missense	probably damaging	1.00
R1566:Tap1	UTSW	17	34,408,520 (GRCm39)	missense	probably benign	0.00
R1837:Tap1	UTSW	17	34,407,083 (GRCm39)	missense	possibly damaging	0.50
R1839:Tap1	UTSW	17	34,407,083 (GRCm39)	missense	possibly damaging	0.50
R1892:Tap1	UTSW	17	34,413,915 (GRCm39)	missense	probably damaging	1.00
R1893:Tap1	UTSW	17	34,413,915 (GRCm39)	missense	probably damaging	1.00
R1952:Tap1	UTSW	17	34,412,481 (GRCm39)	missense	probably damaging	1.00
R2163:Tap1	UTSW	17	34,408,447 (GRCm39)	splice site	probably null
R3744:Tap1	UTSW	17	34,412,586 (GRCm39)	missense	probably damaging	1.00
R3883:Tap1	UTSW	17	34,412,232 (GRCm39)	missense	probably damaging	1.00
R3975:Tap1	UTSW	17	34,408,541 (GRCm39)	unclassified	probably benign
R4418:Tap1	UTSW	17	34,407,353 (GRCm39)	splice site	probably null
R4779:Tap1	UTSW	17	34,412,865 (GRCm39)	missense	probably damaging	1.00
R4913:Tap1	UTSW	17	34,412,468 (GRCm39)	missense	possibly damaging	0.94
R5715:Tap1	UTSW	17	34,411,868 (GRCm39)	nonsense	probably null
R5838:Tap1	UTSW	17	34,412,279 (GRCm39)	nonsense	probably null
R6248:Tap1	UTSW	17	34,412,151 (GRCm39)	missense	probably damaging	0.99
R6710:Tap1	UTSW	17	34,407,083 (GRCm39)	missense	possibly damaging	0.50
R6881:Tap1	UTSW	17	34,407,008 (GRCm39)	missense	probably damaging	0.99
R7437:Tap1	UTSW	17	34,409,616 (GRCm39)	nonsense	probably null
R7514:Tap1	UTSW	17	34,415,639 (GRCm39)	missense	probably damaging	1.00
R7618:Tap1	UTSW	17	34,407,212 (GRCm39)	missense	possibly damaging	0.94
R7968:Tap1	UTSW	17	34,413,886 (GRCm39)	missense	probably damaging	0.99
R8115:Tap1	UTSW	17	34,412,293 (GRCm39)	splice site	probably null
R8146:Tap1	UTSW	17	34,408,206 (GRCm39)	missense	probably damaging	0.98
R8322:Tap1	UTSW	17	34,412,163 (GRCm39)	missense	probably damaging	1.00
R8539:Tap1	UTSW	17	34,408,409 (GRCm39)	missense	probably benign
R8751:Tap1	UTSW	17	34,412,133 (GRCm39)	missense	probably benign	0.14
R8883:Tap1	UTSW	17	34,406,867 (GRCm39)	missense	unknown
R8885:Tap1	UTSW	17	34,408,536 (GRCm39)	critical splice donor site	probably null
R9191:Tap1	UTSW	17	34,413,956 (GRCm39)	critical splice donor site	probably null
R9232:Tap1	UTSW	17	34,412,277 (GRCm39)	missense	probably benign	0.00
R9604:Tap1	UTSW	17	34,412,172 (GRCm39)	missense	probably damaging	0.99
R9656:Tap1	UTSW	17	34,412,525 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTATGTGTGCCTATGTGAATG -3'
(R):5'- CTTCAGGGAGATGACACAGC -3'

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

Posted On

2014-06-23