Mutagenetix > Incidental Mutation

Incidental Mutation 'R6328:Tapbpl'

510803

Institutional Source

Beutler Lab

Gene Symbol

Tapbpl

Ensembl Gene

ENSMUSG00000038213

Gene Name

TAP binding protein-like

Synonyms

TAPBPL-R

MMRRC Submission

044482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6328 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125200896-125208823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125201881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 420 (S420C)

Ref Sequence

ENSEMBL: ENSMUSP00000047105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032487] [ENSMUST00000043422] [ENSMUST00000063588] [ENSMUST00000100942]

AlphaFold

Q8VD31

Predicted Effect

probably benign
Transcript: ENSMUST00000032487

SMART Domains

Protein: ENSMUSP00000032487
Gene: ENSMUSG00000030337

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Pfam:Synaptobrevin	30	118	1.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043422
AA Change: S420C

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047105
Gene: ENSMUSG00000038213
AA Change: S420C

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	202	306	1.11e-5	SMART
IGc1	321	397	3.97e-7	SMART
transmembrane domain	412	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063588

SMART Domains

Protein: ENSMUSP00000063466
Gene: ENSMUSG00000030337

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Pfam:Synaptobrevin	30	118	5.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100942

SMART Domains

Protein: ENSMUSP00000098503
Gene: ENSMUSG00000030337

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Pfam:Synaptobrevin	30	116	1.9e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205223

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abcb10	G	A	8: 124,688,756 (GRCm39)	R507W	probably damaging	Het
Actg1	T	C	11: 120,238,586 (GRCm39)	D80G	possibly damaging	Het
Actr5	A	G	2: 158,477,264 (GRCm39)	D405G	possibly damaging	Het
Ahnak	C	T	19: 8,984,512 (GRCm39)	T1932I	probably benign	Het
Ankk1	T	A	9: 49,327,371 (GRCm39)	T603S	possibly damaging	Het
Atp13a3	A	T	16: 30,155,053 (GRCm39)	F964I	probably damaging	Het
Atp6v1g3	A	G	1: 138,215,570 (GRCm39)	T77A	probably benign	Het
Bccip	A	G	7: 133,319,503 (GRCm39)	H198R	probably damaging	Het
Bsx	A	T	9: 40,785,519 (GRCm39)	R16W	probably damaging	Het
Ccdc88b	C	T	19: 6,826,406 (GRCm39)	R1103Q	probably damaging	Het
Cd59a	A	C	2: 103,941,103 (GRCm39)	Y27S	probably damaging	Het
Cdk20	A	G	13: 64,584,413 (GRCm39)	H162R	probably damaging	Het
Col6a2	C	T	10: 76,450,212 (GRCm39)	E240K	possibly damaging	Het
Ddr2	A	G	1: 169,814,634 (GRCm39)	V603A	possibly damaging	Het
Dgkz	A	G	2: 91,772,980 (GRCm39)	V359A	probably benign	Het
Dis3l2	T	A	1: 86,782,153 (GRCm39)	S223T	probably benign	Het
Dpysl4	A	G	7: 138,679,734 (GRCm39)	S535G	probably benign	Het
Dsp	A	T	13: 38,380,982 (GRCm39)	K1977*	probably null	Het
Dync2h1	A	T	9: 7,165,717 (GRCm39)	S515T	probably benign	Het
Epg5	A	G	18: 78,072,179 (GRCm39)	E2397G	possibly damaging	Het
Fam83d	G	A	2: 158,627,096 (GRCm39)	G262S	probably damaging	Het
Frmd4a	A	T	2: 4,595,509 (GRCm39)	T477S	probably damaging	Het
Gbp3	A	G	3: 142,274,819 (GRCm39)	E382G	probably benign	Het
Gltp	A	T	5: 114,808,572 (GRCm39)	C157S	possibly damaging	Het
Grb10	A	G	11: 11,887,905 (GRCm39)	S378P	probably damaging	Het
Gulo	G	T	14: 66,240,080 (GRCm39)	T126K	probably damaging	Het
H2-M10.6	T	A	17: 37,124,836 (GRCm39)	M251K	probably damaging	Het
Hecw1	T	C	13: 14,422,205 (GRCm39)	D967G	possibly damaging	Het
Htr3b	A	T	9: 48,858,933 (GRCm39)	D68E	probably damaging	Het
Igkv5-39	G	T	6: 69,877,489 (GRCm39)	S89*	probably null	Het
Kctd4	C	A	14: 76,200,037 (GRCm39)		probably benign	Het
Lmna	T	C	3: 88,393,813 (GRCm39)	Q255R	probably damaging	Het
Lsmem1	A	G	12: 40,230,656 (GRCm39)	I82T	possibly damaging	Het
Lyg2	T	A	1: 37,950,194 (GRCm39)	M45L	probably benign	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Nudt5	A	T	2: 5,869,248 (GRCm39)	K158I	possibly damaging	Het
Nufip1	C	T	14: 76,348,494 (GRCm39)	P41L	possibly damaging	Het
Or4f14b	A	T	2: 111,775,739 (GRCm39)	W21R	probably null	Het
Or52z13	A	T	7: 103,247,073 (GRCm39)	E183D	probably damaging	Het
Pcp2	T	C	8: 3,674,887 (GRCm39)	D22G	probably damaging	Het
Pdk2	G	C	11: 94,930,228 (GRCm39)	N69K	possibly damaging	Het
Pdlim7	G	T	13: 55,655,905 (GRCm39)		probably benign	Het
Ptprc	C	A	1: 138,041,416 (GRCm39)	E148*	probably null	Het
Rassf5	A	T	1: 131,108,405 (GRCm39)	V225E	probably damaging	Het
Rbm6	A	T	9: 107,664,458 (GRCm39)	M725K	probably benign	Het
Scn1a	T	A	2: 66,103,660 (GRCm39)	I1867F	probably damaging	Het
Sdk2	T	A	11: 113,684,581 (GRCm39)	Q1960L	probably damaging	Het
Setx	A	G	2: 29,064,474 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,381,345 (GRCm39)	R496*	probably null	Het
Slco1a1	C	T	6: 141,878,176 (GRCm39)	V222I	probably damaging	Het
Sntg2	A	C	12: 30,308,013 (GRCm39)	L224R	probably damaging	Het
Syt16	C	A	12: 74,313,467 (GRCm39)	C464*	probably null	Het
Tax1bp1	A	G	6: 52,723,694 (GRCm39)	E528G	probably benign	Het
Tmem168	T	C	6: 13,602,710 (GRCm39)	T219A	probably benign	Het
Zfp180	T	C	7: 23,804,981 (GRCm39)	F467L	probably damaging	Het

Other mutations in Tapbpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03083:Tapbpl	APN	6	125,205,191 (GRCm39)	splice site	probably null
IGL03308:Tapbpl	APN	6	125,205,142 (GRCm39)	missense	possibly damaging	0.93
BB010:Tapbpl	UTSW	6	125,207,233 (GRCm39)	missense	probably damaging	1.00
BB020:Tapbpl	UTSW	6	125,207,233 (GRCm39)	missense	probably damaging	1.00
R1666:Tapbpl	UTSW	6	125,207,164 (GRCm39)	missense	probably benign	0.00
R3707:Tapbpl	UTSW	6	125,201,658 (GRCm39)	splice site	probably null
R4521:Tapbpl	UTSW	6	125,205,085 (GRCm39)	missense	probably damaging	1.00
R4744:Tapbpl	UTSW	6	125,205,248 (GRCm39)	missense	probably damaging	1.00
R6290:Tapbpl	UTSW	6	125,207,679 (GRCm39)	missense	probably benign	0.00
R6565:Tapbpl	UTSW	6	125,205,307 (GRCm39)	missense	probably benign	0.00
R7085:Tapbpl	UTSW	6	125,203,451 (GRCm39)	splice site	probably null
R7251:Tapbpl	UTSW	6	125,203,558 (GRCm39)	missense	probably damaging	0.98
R7933:Tapbpl	UTSW	6	125,207,233 (GRCm39)	missense	probably damaging	1.00
R8230:Tapbpl	UTSW	6	125,203,684 (GRCm39)	missense	probably damaging	1.00
R8920:Tapbpl	UTSW	6	125,205,214 (GRCm39)	missense	probably damaging	1.00
R9372:Tapbpl	UTSW	6	125,203,672 (GRCm39)	missense	probably benign	0.28
R9406:Tapbpl	UTSW	6	125,205,319 (GRCm39)	missense	probably damaging	1.00
X0026:Tapbpl	UTSW	6	125,207,533 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTGGACCTTGATGAAGAAGCTG -3'
(R):5'- AGTCTTGAACAAGTGCAGTGC -3'

Sequencing Primer
(F):5'- TTCAATAGGGATAATTCCAAAAGCAG -3'
(R):5'- CAGTGCTGCTGCGTGGG -3'

Posted On

2018-04-02