Mutagenetix > Incidental Mutation

Incidental Mutation 'R1892:Tap1'

211652

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

039912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1892 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

34406530-34416199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34413915 bp (GRCm39)

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]

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 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

noncoding transcript
Transcript: ENSMUST00000172960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173770

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

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

Meta Mutation Damage Score

0.9625

Coding Region Coverage

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

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,815,561 (GRCm39)	A270T	probably benign	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Adat3	T	C	10: 80,442,249 (GRCm39)	L29P	probably damaging	Het
AI987944	A	T	7: 41,024,020 (GRCm39)	C320S	probably damaging	Het
Asic4	C	T	1: 75,446,126 (GRCm39)	R285W	probably damaging	Het
Asic5	A	T	3: 81,928,293 (GRCm39)	I419L	probably damaging	Het
Batf	A	G	12: 85,736,102 (GRCm39)	K42E	probably damaging	Het
Bcar3	A	G	3: 122,301,785 (GRCm39)	N160S	probably benign	Het
Bco2	C	A	9: 50,461,863 (GRCm39)	G47V	probably damaging	Het
Bicc1	T	G	10: 70,794,614 (GRCm39)	K181T	probably damaging	Het
Brinp2	A	G	1: 158,082,542 (GRCm39)		probably null	Het
Cacng8	A	G	7: 3,463,568 (GRCm39)	D240G	possibly damaging	Het
Calca	A	G	7: 114,232,962 (GRCm39)	Y96H	probably damaging	Het
Cdh1	A	T	8: 107,390,882 (GRCm39)	K666I	possibly damaging	Het
Cdh16	A	T	8: 105,344,631 (GRCm39)	I500N	possibly damaging	Het
Chst14	A	G	2: 118,757,830 (GRCm39)	Y208C	probably damaging	Het
Chst9	T	C	18: 15,586,017 (GRCm39)	H182R	probably damaging	Het
Clk2	A	G	3: 89,082,502 (GRCm39)	I367M	possibly damaging	Het
Cobl	G	C	11: 12,203,258 (GRCm39)	S1066W	probably damaging	Het
Ctcfl	A	G	2: 172,960,478 (GRCm39)	V35A	probably benign	Het
Dchs1	G	T	7: 105,413,363 (GRCm39)	H1151N	probably benign	Het
Dennd1c	T	C	17: 57,374,083 (GRCm39)	T529A	probably benign	Het
Dnah11	A	T	12: 118,070,209 (GRCm39)	V1532D	possibly damaging	Het
Dync1h1	A	G	12: 110,612,738 (GRCm39)	Y2871C	probably damaging	Het
Dytn	T	C	1: 63,716,420 (GRCm39)	E51G	probably benign	Het
Esd	C	T	14: 74,987,113 (GRCm39)	A266V	probably damaging	Het
Gli1	T	C	10: 127,165,975 (GRCm39)	M1093V	possibly damaging	Het
Gm15446	A	G	5: 110,091,253 (GRCm39)	K502E	probably damaging	Het
Gm4076	T	A	13: 85,275,447 (GRCm39)		noncoding transcript	Het
Gm9830	A	G	9: 44,375,825 (GRCm39)		noncoding transcript	Het
Gm9938	G	A	19: 23,701,955 (GRCm39)		probably benign	Het
Grhl1	G	A	12: 24,634,909 (GRCm39)	R245H	probably damaging	Het
Hnrnpul1	A	T	7: 25,426,191 (GRCm39)	D553E	probably benign	Het
Hpn	G	A	7: 30,798,468 (GRCm39)	Q415*	probably null	Het
Hsd11b1	T	G	1: 192,906,068 (GRCm39)	M175L	probably benign	Het
Htra1	G	A	7: 130,586,799 (GRCm39)	V461I	possibly damaging	Het
Il1rl2	A	G	1: 40,366,694 (GRCm39)	H76R	probably damaging	Het
Insrr	G	A	3: 87,721,184 (GRCm39)	V1112M	probably damaging	Het
Ints9	T	C	14: 65,257,872 (GRCm39)	S351P	probably benign	Het
Itgav	T	A	2: 83,601,680 (GRCm39)	N350K	probably damaging	Het
Kdm4d	C	A	9: 14,375,613 (GRCm39)	V82L	probably benign	Het
Klc1	T	C	12: 111,748,261 (GRCm39)		probably null	Het
Kmt5c	T	A	7: 4,745,714 (GRCm39)	C69*	probably null	Het
Lgals3	T	G	14: 47,622,164 (GRCm39)	N193K	possibly damaging	Het
Morc2b	T	A	17: 33,354,748 (GRCm39)	D1008V	probably damaging	Het
Mpg	C	T	11: 32,181,720 (GRCm39)	Q243*	probably null	Het
Muc15	C	T	2: 110,567,697 (GRCm39)	R281*	probably null	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nek5	A	G	8: 22,597,745 (GRCm39)	M278T	probably benign	Het
Npas2	A	G	1: 39,384,503 (GRCm39)	T599A	probably benign	Het
Nrf1	A	G	6: 30,144,787 (GRCm39)	D519G	probably null	Het
Nup43	A	G	10: 7,549,373 (GRCm39)	H176R	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or10j3	T	C	1: 173,031,795 (GRCm39)	Y291H	probably damaging	Het
Or5p72	A	T	7: 108,022,147 (GRCm39)	Y123F	possibly damaging	Het
Or6c75	A	C	10: 129,336,902 (GRCm39)	I50L	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Pik3ip1	G	T	11: 3,283,304 (GRCm39)	A135S	probably damaging	Het
Pira13	A	C	7: 3,827,573 (GRCm39)	C195G	probably benign	Het
Ppp4c	A	G	7: 126,385,452 (GRCm39)	V119A	probably damaging	Het
Prepl	A	G	17: 85,395,878 (GRCm39)	Y35H	possibly damaging	Het
Ptpn13	A	G	5: 103,649,545 (GRCm39)	Y316C	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Ranbp2	T	C	10: 58,299,921 (GRCm39)	V491A	probably benign	Het
Ranbp9	C	A	13: 43,569,933 (GRCm39)	C495F	possibly damaging	Het
Rfx8	A	T	1: 39,709,746 (GRCm39)		probably null	Het
Rnf111	T	A	9: 70,383,656 (GRCm39)	K92N	probably damaging	Het
Rtn1	A	G	12: 72,259,337 (GRCm39)	I772T	probably damaging	Het
Ryr2	T	A	13: 11,673,844 (GRCm39)	K72*	probably null	Het
Sergef	A	T	7: 46,264,040 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,620,665 (GRCm39)	N305S	probably damaging	Het
Slc40a1	A	T	1: 45,950,302 (GRCm39)	C383*	probably null	Het
Stab2	C	T	10: 86,773,913 (GRCm39)	C806Y	probably damaging	Het
Stard9	A	G	2: 120,524,189 (GRCm39)	T795A	probably benign	Het
Stk31	T	C	6: 49,415,408 (GRCm39)	I536T	probably damaging	Het
Stox1	T	A	10: 62,501,178 (GRCm39)	T461S	possibly damaging	Het
Suv39h2	T	C	2: 3,460,805 (GRCm39)	Y219C	probably damaging	Het
Tbc1d2b	T	A	9: 90,100,996 (GRCm39)	I665F	probably damaging	Het
Tdrd6	T	C	17: 43,935,696 (GRCm39)	N1784S	probably benign	Het
Tmem14c	T	C	13: 41,174,633 (GRCm39)	F81L	possibly damaging	Het
Tnrc6c	A	G	11: 117,605,188 (GRCm39)	N108D	probably benign	Het
Tox3	A	T	8: 90,996,869 (GRCm39)	N131K	probably benign	Het
Tspear	T	A	10: 77,706,308 (GRCm39)	D359E	probably benign	Het
Ttc9	A	G	12: 81,678,551 (GRCm39)	I125V	probably benign	Het
Ttn	A	T	2: 76,728,531 (GRCm39)		probably benign	Het
Ubn2	C	T	6: 38,468,226 (GRCm39)	S980F	probably damaging	Het
Vcf1	G	T	11: 113,554,212 (GRCm39)	P161H	probably damaging	Het
Zfp362	T	A	4: 128,684,057 (GRCm39)	T30S	probably benign	Het
Zfp385c	A	C	11: 100,528,630 (GRCm39)	H32Q	probably damaging	Het
Zfp870	A	T	17: 33,102,863 (GRCm39)	H156Q	possibly damaging	Het
Zfp873	T	C	10: 81,897,080 (GRCm39)	C641R	probably damaging	Het
Zfp950	A	T	19: 61,107,549 (GRCm39)	H511Q	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
R1795:Tap1	UTSW	17	34,413,899 (GRCm39)	missense	probably benign	0.21
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
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'- AGGTATGTGTGCCTATGTGAATGTA -3'
(R):5'- TCAGGGAGATGACACAGCAG -3'

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

Posted On

2014-06-30