Mutagenetix > Incidental Mutations

Incidental Mutation 'R7437:Tap1'

576693

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

Accession Numbers

Genbank: NM_013683; MGI: 98483

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34187553-34197225 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 34190642 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 284 (W284*)

Ref Sequence

ENSEMBL: ENSMUSP00000128401 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000041633
AA Change: W284*

SMART Domains

Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: W284*

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

probably null
Transcript: ENSMUST00000170086
AA Change: W284*

SMART Domains

Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: W284*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,400,498	I1192F	probably damaging	Het
Abca8a	A	G	11: 110,050,964	S1160P	probably benign	Het
Adamtsl2	A	G	2: 27,089,709	I297V	probably damaging	Het
Aebp1	T	A	11: 5,869,757	F687L	possibly damaging	Het
Ahsa1	A	G	12: 87,268,156	T28A	probably damaging	Het
Akap3	A	T	6: 126,865,655	K412N	probably damaging	Het
Atl1	A	G	12: 69,931,622	I123V	probably benign	Het
Atp10a	G	A	7: 58,658,540	R29H	unknown	Het
C4b	T	C	17: 34,734,733	D967G	probably benign	Het
Ccdc186	T	C	19: 56,806,997	N416S	probably damaging	Het
Ccna2	T	C	3: 36,571,090		probably benign	Het
Cep70	T	C	9: 99,291,529	L371P	probably damaging	Het
Cfap46	A	T	7: 139,650,837	C958*	probably null	Het
Crlf2	T	C	5: 109,554,973	D318G	probably benign	Het
Csf1	T	C	3: 107,750,756	N14D	probably benign	Het
Dars	A	G	1: 128,372,204	Y348H	possibly damaging	Het
Dnah2	T	C	11: 69,498,627	E813G	probably damaging	Het
Ebi3	T	A	17: 55,954,410	M102K	probably benign	Het
Epg5	A	G	18: 78,023,278	D2131G	probably benign	Het
Fam186a	A	T	15: 99,942,894	L1823H	probably damaging	Het
Fam213b	C	A	4: 154,896,596	C194F	possibly damaging	Het
H2-M3	T	C	17: 37,272,678	M309T	probably benign	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ino80	A	G	2: 119,442,586	S470P	possibly damaging	Het
Kcnh5	C	T	12: 75,137,643		probably null	Het
Kif24	T	C	4: 41,404,687	T438A	possibly damaging	Het
Kndc1	G	A	7: 139,909,043	G205R	probably damaging	Het
Lrp1b	A	T	2: 40,822,645	Y3226N		Het
Lrp1b	G	T	2: 40,822,646	D3225E		Het
Megf10	G	C	18: 57,262,131	G522R	probably damaging	Het
Mgea5	A	T	19: 45,778,607	M110K	possibly damaging	Het
Nectin2	A	T	7: 19,749,268	L12*	probably null	Het
Ngef	A	T	1: 87,480,605	M580K	probably damaging	Het
Olfr1118	A	G	2: 87,309,343	M205V	probably benign	Het
Olfr1437	T	C	19: 12,322,108	N240D	probably damaging	Het
Olfr376	A	G	11: 73,375,018	S93G	probably benign	Het
Pcdhb13	T	C	18: 37,444,675	L702P	probably damaging	Het
Pcdhb17	A	G	18: 37,486,092	I312V	probably benign	Het
Pglyrp3	A	G	3: 92,030,678	N265D	probably benign	Het
Pkd1l2	A	G	8: 117,030,682	V1539A	probably damaging	Het
Rcn2	T	C	9: 56,058,069	L274P	probably damaging	Het
Rpp30	A	G	19: 36,104,438	E267G	possibly damaging	Het
Rundc3a	A	G	11: 102,398,404	M134V	probably damaging	Het
Samd3	A	T	10: 26,270,106	Q343L	possibly damaging	Het
Serpinb3c	A	T	1: 107,271,714	F359Y	probably damaging	Het
Slc9a9	T	C	9: 95,228,941	L604P	probably benign	Het
Strn3	A	T	12: 51,610,163	H777Q	probably damaging	Het
Tmem136	C	T	9: 43,111,785	W91*	probably null	Het
Tmem181a	A	G	17: 6,303,265	D384G	possibly damaging	Het
Txndc12	T	C	4: 108,856,171	S77P	probably damaging	Het
Wnt16	G	A	6: 22,288,561	V19M	probably benign	Het
Zfp932	T	A	5: 110,010,014	M526K	probably benign	Het
Zfp959	G	T	17: 55,898,334	C457F	probably damaging	Het
Zscan4-ps3	T	C	7: 11,612,936	S300P	probably benign	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
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
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'- ATTGAAGTTCCTGCGCCTCC -3'
(R):5'- TGGAAAGCCACACTGAAAGC -3'

Sequencing Primer
(F):5'- TTACCCGCCTCAGGATGCTG -3'
(R):5'- GCAGTCTAGGAGAAACTAAATGTAG -3'

Posted On

2019-10-07