Mutagenetix > Incidental Mutation

Incidental Mutation 'R0418:Tpbg'

36876

Institutional Source

Beutler Lab

Gene Symbol

Tpbg

Ensembl Gene

ENSMUSG00000035274

Gene Name

trophoblast glycoprotein

Synonyms

5T4 oncofetal antigen, 5T4

MMRRC Submission

038620-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R0418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85724433-85729093 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 85726803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 257 (Y257*)

Ref Sequence

ENSEMBL: ENSMUSP00000096101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006559] [ENSMUST00000098500]

AlphaFold

Q9Z0L0

Predicted Effect

probably null
Transcript: ENSMUST00000006559
AA Change: Y257*

SMART Domains

Protein: ENSMUSP00000006559
Gene: ENSMUSG00000035274
AA Change: Y257*

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
LRRNT	61	95	1.27e-6	SMART
LRR	94	113	1.53e2	SMART
LRR_TYP	117	140	1.92e-2	SMART
LRR_TYP	141	164	6.88e-4	SMART
LRR	215	238	6.22e0	SMART
LRR_TYP	239	262	2.2e-2	SMART
LRR	263	286	2.67e-1	SMART
LRRCT	300	351	9.1e-14	SMART
transmembrane domain	360	382	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069896

SMART Domains

Protein: ENSMUSP00000126873
Gene: ENSMUSG00000056031

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	68	88	N/A	INTRINSIC
low complexity region	103	122	N/A	INTRINSIC
low complexity region	150	193	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098500
AA Change: Y257*

SMART Domains

Protein: ENSMUSP00000096101
Gene: ENSMUSG00000035274
AA Change: Y257*

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
LRRNT	61	95	1.27e-6	SMART
LRR	94	113	1.53e2	SMART
LRR_TYP	117	140	1.92e-2	SMART
LRR_TYP	141	164	6.88e-4	SMART
LRR	215	238	6.22e0	SMART
LRR_TYP	239	262	2.2e-2	SMART
LRR	263	286	2.67e-1	SMART
LRRCT	300	351	9.1e-14	SMART
transmembrane domain	360	382	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189191

Meta Mutation Damage Score

0.9647

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit low penetrance hydrocephaly and premature death. Embryonic stem cells isolated from these mice exhibit impaired mesenchyme differentiation and reduced chemotaxis following differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	G	T	2: 103,953,675 (GRCm39)		probably null	Het
Abca14	T	C	7: 119,806,657 (GRCm39)	L19P	probably damaging	Het
Abcb1a	T	A	5: 8,763,281 (GRCm39)	V603E	probably damaging	Het
Acsl5	A	G	19: 55,261,238 (GRCm39)	D65G	probably benign	Het
Acss3	T	C	10: 106,859,773 (GRCm39)	Y311C	probably damaging	Het
Ak8	T	G	2: 28,623,868 (GRCm39)	I151S	possibly damaging	Het
Aldh1a1	T	C	19: 20,606,413 (GRCm39)		probably benign	Het
Aldh1l1	A	G	6: 90,546,875 (GRCm39)	R393G	possibly damaging	Het
Ankhd1	T	A	18: 36,767,353 (GRCm39)	L1164Q	probably damaging	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
Atf5	A	G	7: 44,462,821 (GRCm39)	M101T	possibly damaging	Het
Det1	T	C	7: 78,493,765 (GRCm39)	T80A	probably benign	Het
Dpp9	C	T	17: 56,501,404 (GRCm39)		probably benign	Het
Fam13c	A	G	10: 70,370,591 (GRCm39)	R244G	probably damaging	Het
Fat3	A	T	9: 16,158,192 (GRCm39)	N1139K	probably damaging	Het
Fbxo17	A	G	7: 28,432,916 (GRCm39)	T146A	possibly damaging	Het
Fli1	T	C	9: 32,363,425 (GRCm39)		probably benign	Het
Glb1l2	T	G	9: 26,705,397 (GRCm39)	D151A	probably damaging	Het
Gli2	G	A	1: 118,768,220 (GRCm39)	T669I	possibly damaging	Het
Igsf3	C	A	3: 101,342,751 (GRCm39)	R463S	probably damaging	Het
Il1rl2	T	C	1: 40,365,662 (GRCm39)	V3A	unknown	Het
Irx3	G	A	8: 92,526,708 (GRCm39)	S332F	probably benign	Het
Katnb1	C	T	8: 95,822,286 (GRCm39)	T303M	possibly damaging	Het
Lrrc31	A	T	3: 30,743,383 (GRCm39)	L194Q	probably damaging	Het
Lrrc37a	T	G	11: 103,394,264 (GRCm39)	E387A	probably benign	Het
Mapk14	T	C	17: 28,910,763 (GRCm39)	I17T	probably benign	Het
Mtif2	A	G	11: 29,483,401 (GRCm39)		probably benign	Het
Myo16	A	G	8: 10,619,918 (GRCm39)	T1490A	probably benign	Het
Nfasc	A	G	1: 132,539,333 (GRCm39)	V399A	probably damaging	Het
Nhsl3	A	G	4: 129,117,477 (GRCm39)	S396P	probably damaging	Het
Nobox	T	C	6: 43,284,169 (GRCm39)	K1E	probably null	Het
Nr2c1	A	T	10: 94,017,374 (GRCm39)	M371L	probably benign	Het
Oplah	C	T	15: 76,182,687 (GRCm39)	R924H	probably benign	Het
Or10ak16	C	T	4: 118,750,448 (GRCm39)	T56I	possibly damaging	Het
Or51a10	G	A	7: 103,698,979 (GRCm39)	T194I	probably benign	Het
Pappa2	C	A	1: 158,544,560 (GRCm39)	C1756F	probably damaging	Het
Pdzd8	G	A	19: 59,289,361 (GRCm39)	R680C	probably damaging	Het
Rassf3	G	A	10: 121,253,075 (GRCm39)	T44M	probably benign	Het
Rmnd1	T	C	10: 4,377,693 (GRCm39)		probably null	Het
Rnf126	C	T	10: 79,598,477 (GRCm39)		probably benign	Het
Rnf144b	T	C	13: 47,397,966 (GRCm39)	S299P	probably benign	Het
Ryr2	A	G	13: 11,848,981 (GRCm39)		probably benign	Het
Scel	T	A	14: 103,840,690 (GRCm39)	S511T	probably benign	Het
Slc16a10	G	T	10: 39,916,627 (GRCm39)	S138*	probably null	Het
Slc36a4	A	T	9: 15,645,562 (GRCm39)	I330F	probably damaging	Het
Slc5a8	A	G	10: 88,722,420 (GRCm39)	I84M	probably benign	Het
Spag9	T	C	11: 93,982,579 (GRCm39)		probably benign	Het
Suco	C	T	1: 161,662,419 (GRCm39)	V671I	probably benign	Het
Suox	G	A	10: 128,506,754 (GRCm39)	P425S	probably damaging	Het
Tmem266	T	A	9: 55,344,697 (GRCm39)	V443E	probably benign	Het
Tmprss11f	A	T	5: 86,704,870 (GRCm39)	I16N	probably benign	Het
Tnik	T	A	3: 28,625,029 (GRCm39)	Y321*	probably null	Het
Tnrc6b	T	C	15: 80,797,524 (GRCm39)	M1357T	probably benign	Het
Usp37	A	T	1: 74,529,266 (GRCm39)	S138T	probably benign	Het
Veph1	T	A	3: 66,162,449 (GRCm39)	R70*	probably null	Het
Vmn2r17	C	T	5: 109,600,747 (GRCm39)	P682S	probably damaging	Het
Vmn2r79	A	C	7: 86,651,611 (GRCm39)	N337H	probably benign	Het
Vstm2b	A	G	7: 40,551,876 (GRCm39)	D68G	probably damaging	Het
Vwa7	G	T	17: 35,236,933 (GRCm39)	A167S	possibly damaging	Het
Zfp647	A	T	15: 76,795,586 (GRCm39)	I358N	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Tpbg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Tpbg	APN	9	85,726,145 (GRCm39)	missense	unknown
IGL01789:Tpbg	APN	9	85,726,954 (GRCm39)	missense	probably benign	0.00
IGL01987:Tpbg	APN	9	85,727,252 (GRCm39)	missense	probably damaging	1.00
R0399:Tpbg	UTSW	9	85,726,991 (GRCm39)	missense	possibly damaging	0.63
R0904:Tpbg	UTSW	9	85,726,617 (GRCm39)	missense	unknown
R1748:Tpbg	UTSW	9	85,726,429 (GRCm39)	missense	probably damaging	1.00
R3744:Tpbg	UTSW	9	85,727,215 (GRCm39)	missense	probably damaging	1.00
R3836:Tpbg	UTSW	9	85,725,167 (GRCm39)	intron	probably benign
R3837:Tpbg	UTSW	9	85,725,167 (GRCm39)	intron	probably benign
R3839:Tpbg	UTSW	9	85,725,167 (GRCm39)	intron	probably benign
R5221:Tpbg	UTSW	9	85,726,478 (GRCm39)	missense	probably damaging	1.00
R6488:Tpbg	UTSW	9	85,726,538 (GRCm39)	missense	possibly damaging	0.70
R7192:Tpbg	UTSW	9	85,726,085 (GRCm39)	nonsense	probably null
R7462:Tpbg	UTSW	9	85,726,903 (GRCm39)	missense	possibly damaging	0.56
R8481:Tpbg	UTSW	9	85,726,138 (GRCm39)	missense	unknown
R8895:Tpbg	UTSW	9	85,726,520 (GRCm39)	missense	possibly damaging	0.50
R9073:Tpbg	UTSW	9	85,724,924 (GRCm39)	splice site	probably null
R9092:Tpbg	UTSW	9	85,726,916 (GRCm39)	missense	possibly damaging	0.87
R9319:Tpbg	UTSW	9	85,725,991 (GRCm39)	start gained	probably benign
R9655:Tpbg	UTSW	9	85,726,252 (GRCm39)	missense	probably damaging	1.00
R9708:Tpbg	UTSW	9	85,726,574 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGCTGATCCTGAATCACATCGTGCC -3'
(R):5'- TCAGCCATGTAGCAGTCGCAAACC -3'

Sequencing Primer
(F):5'- AATCACATCGTGCCCCCTG -3'
(R):5'- CAAACCCAGGGATTGTTGTC -3'

Posted On

2013-05-09