Mutagenetix > Incidental Mutations

Incidental Mutation 'R1837:Tap1'

205444

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

039864-MU

Accession Numbers

Genbank: NM_013683; MGI: 98483

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1837 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34187553-34197225 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34188109 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 77 (A77V)

Ref Sequence

ENSEMBL: ENSMUSP00000128401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041633] [ENSMUST00000170086] [ENSMUST00000171321] [ENSMUST00000173831] [ENSMUST00000174576]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041633
AA Change: A77V

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039264
Gene: ENSMUSG00000037321
AA Change: A77V

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

possibly damaging
Transcript: ENSMUST00000170086
AA Change: A77V

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128401
Gene: ENSMUSG00000037321
AA Change: A77V

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: ENSMUST00000171321

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: ENSMUST00000178857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179593

Meta Mutation Damage Score

0.0881

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.6%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	G	T	2: 154,553,042	G305W	probably damaging	Het
Actr3b	A	T	5: 25,825,159	T74S	probably benign	Het
Add2	A	G	6: 86,118,558	E652G	probably damaging	Het
Alg9	T	A	9: 50,806,315	V83D	probably damaging	Het
Atp13a2	T	A	4: 140,994,332	Y244*	probably null	Het
BB014433	C	G	8: 15,042,629	V75L	unknown	Het
Bcr	A	G	10: 75,168,100		probably benign	Het
Begain	G	A	12: 109,035,323		probably benign	Het
Bzw1	A	G	1: 58,400,118	K67E	probably damaging	Het
Ccdc141	T	C	2: 77,011,665	E1474G	probably benign	Het
Cdc73	T	A	1: 143,667,657	T314S	possibly damaging	Het
Cfap206	T	C	4: 34,728,813	T31A	probably damaging	Het
Cfap58	G	A	19: 48,029,139	E813K	probably damaging	Het
Clstn2	C	A	9: 97,583,540	A133S	probably benign	Het
Col14a1	A	T	15: 55,382,495	D465V	unknown	Het
Col2a1	C	T	15: 97,996,641		probably benign	Het
Dab2	A	G	15: 6,336,476		probably benign	Het
Eme1	T	C	11: 94,645,961	D464G	probably benign	Het
Eml6	T	C	11: 29,749,802		probably null	Het
Ern1	C	A	11: 106,458,957	L44F	probably damaging	Het
Fam111a	T	A	19: 12,587,452	S188R	probably benign	Het
Fam151b	A	T	13: 92,474,131		probably benign	Het
Fmo6	T	C	1: 162,922,810	N226D	probably benign	Het
Ggt1	A	G	10: 75,579,294	D214G	probably benign	Het
Gm14226	A	G	2: 155,025,010	I296V	probably benign	Het
Gm9915	A	T	1: 42,230,687		noncoding transcript	Het
Heatr5b	T	C	17: 78,820,751	D485G	possibly damaging	Het
Helz2	A	T	2: 181,229,289	I2785N	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Hydin	C	A	8: 110,569,625	H3595Q	probably benign	Het
Il6ra	T	C	3: 89,890,272	D96G	probably benign	Het
Kif5a	G	A	10: 127,236,815	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,967,070	P189T	probably benign	Het
Krt7	A	G	15: 101,419,582	D252G	probably benign	Het
Lad1	C	A	1: 135,829,706	D394E	probably benign	Het
Lhx8	A	T	3: 154,328,055	C38S	possibly damaging	Het
Lta4h	C	T	10: 93,469,175	T280M	probably damaging	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Med1	G	T	11: 98,169,412	D230E	probably damaging	Het
Mmp1b	A	T	9: 7,386,409	F171I	probably damaging	Het
Mprip	T	C	11: 59,766,745	V801A	probably damaging	Het
Mtrf1	A	G	14: 79,401,833	E135G	possibly damaging	Het
Muc5ac	T	A	7: 141,807,086	M1378K	probably benign	Het
Myo3a	A	T	2: 22,577,592	Q286L	possibly damaging	Het
Ndor1	C	T	2: 25,248,396	G391R	probably damaging	Het
Nefl	C	T	14: 68,086,626	R438C	probably damaging	Het
Nlrp3	G	A	11: 59,548,916	V440I	probably benign	Het
Notch3	A	T	17: 32,124,322	L1959Q	probably damaging	Het
Noto	A	G	6: 85,424,177	T63A	probably benign	Het
Oc90	G	A	15: 65,889,680	T163M	probably damaging	Het
Olfr1219	A	T	2: 89,074,832	Y86*	probably null	Het
Olfr1436	A	G	19: 12,298,376	V252A	probably damaging	Het
Olfr365	T	A	2: 37,202,102	M287K	probably benign	Het
Pdpr	C	A	8: 111,134,734	P787T	probably damaging	Het
Phlda1	A	G	10: 111,507,231	Q276R	probably benign	Het
Ptpn21	T	G	12: 98,733,626	K10Q	probably damaging	Het
Ptprb	A	G	10: 116,341,626	E1364G	probably benign	Het
Rabep1	T	A	11: 70,904,658	W237R	probably damaging	Het
Rai1	A	T	11: 60,189,398	K1429N	probably damaging	Het
Rapgef1	A	G	2: 29,737,426	I1027M	probably damaging	Het
Rit1	C	G	3: 88,729,170	T127S	probably damaging	Het
Rpap1	A	C	2: 119,769,885		probably null	Het
Senp7	T	A	16: 56,158,516	C471S	probably benign	Het
Slc16a14	A	G	1: 84,912,399	V395A	probably benign	Het
Slc45a1	C	T	4: 150,638,459	G323S	probably benign	Het
Syne2	A	T	12: 75,967,660	E3208D	probably damaging	Het
Ticam1	T	C	17: 56,270,799	E432G	possibly damaging	Het
Tmem192	C	A	8: 64,964,340		probably benign	Het
Trub1	T	C	19: 57,453,029	V28A	probably benign	Het
Ttc21b	A	T	2: 66,197,762	L1121H	probably benign	Het
Ttc38	A	G	15: 85,851,563	D290G	probably damaging	Het
Ulk1	C	T	5: 110,789,381	G683D	probably damaging	Het
Vmn1r122	A	T	7: 21,133,366	F255I	probably benign	Het
Vmn2r68	T	A	7: 85,233,678	I289F	probably damaging	Het
Vps39	A	T	2: 120,325,397	L514H	probably damaging	Het
Wdr48	T	G	9: 119,905,416	S134A	probably damaging	Het
Yap1	A	T	9: 7,962,349	Y139N	probably damaging	Het
Ylpm1	T	C	12: 85,029,333	V486A	possibly damaging	Het
Zbtb38	T	C	9: 96,686,995	T679A	probably benign	Het
Zfp292	A	G	4: 34,810,264	S927P	probably damaging	Het
Zfp324	C	T	7: 12,970,229	T115I	probably benign	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp945	A	T	17: 22,851,273	C551S	probably damaging	Het
Zfp958	A	G	8: 4,628,590	H205R	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	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
R1566:Tap1	UTSW	17	34189546	missense	probably benign	0.00
R1795:Tap1	UTSW	17	34194925	missense	probably benign	0.21
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'- CAGCACTTCTAGTCAGCTCCAC -3'
(R):5'- TCTTCTTAGGGCCCAGGAAG -3'

Sequencing Primer
(F):5'- AGACTCTGGACAGCTCACG -3'
(R):5'- ACAGCATGTCTCCAGCGTC -3'

Posted On

2014-06-23