Mutagenetix > Incidental Mutation

Incidental Mutation 'R3837:Tpbg'

275702

Institutional Source

Beutler Lab

Gene Symbol

Tpbg

Ensembl Gene

ENSMUSG00000035274

Gene Name

trophoblast glycoprotein

Synonyms

5T4 oncofetal antigen, 5T4

MMRRC Submission

040778-MU

Accession Numbers

Essential gene?

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

Stock #

R3837 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

85724433-85729093 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 85725167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096101 (fasta)

Gene Model

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

AlphaFold

Q9Z0L0

Predicted Effect

probably benign
Transcript: ENSMUST00000006559

SMART Domains

Protein: ENSMUSP00000006559
Gene: ENSMUSG00000035274

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 benign
Transcript: ENSMUST00000098500

SMART Domains

Protein: ENSMUSP00000096101
Gene: ENSMUSG00000035274

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
4930474N05Rik	G	A	14: 35,817,435 (GRCm39)	G112S	probably benign	Het
Adam24	T	C	8: 41,133,584 (GRCm39)	S351P	probably benign	Het
Amigo2	T	C	15: 97,143,196 (GRCm39)	I409V	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,220,542 (GRCm39)	W432R	probably damaging	Het
Cdh9	G	T	15: 16,823,524 (GRCm39)	E169*	probably null	Het
Col28a1	C	T	6: 8,014,601 (GRCm39)	V935M	possibly damaging	Het
Col6a3	T	C	1: 90,707,803 (GRCm39)	N1948D	unknown	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fn1	A	T	1: 71,692,314 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,228,608 (GRCm39)	T1708A	probably benign	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Glra2	C	T	X: 164,072,612 (GRCm39)	V85I	probably benign	Het
Gm11562	A	G	11: 99,511,026 (GRCm39)	I58T	possibly damaging	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Lamtor1	T	C	7: 101,559,315 (GRCm39)		probably null	Het
Lrrd1	A	T	5: 3,900,204 (GRCm39)	I170L	possibly damaging	Het
Magi2	G	A	5: 20,420,466 (GRCm39)	D301N	probably benign	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh3	C	A	13: 92,491,366 (GRCm39)	G15C	probably damaging	Het
Myl12b	C	A	17: 71,281,480 (GRCm39)	E120*	probably null	Het
Myo3a	T	G	2: 22,455,121 (GRCm39)		probably benign	Het
Nagk	A	T	6: 83,778,139 (GRCm39)	H245L	possibly damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,237,929 (GRCm39)		probably benign	Het
Ogfrl1	G	A	1: 23,409,041 (GRCm39)	T395I	probably benign	Het
Polr1b	T	A	2: 128,961,027 (GRCm39)	F662Y	possibly damaging	Het
Rrbp1	T	C	2: 143,831,478 (GRCm39)	K230E	probably damaging	Het
Shld2	A	G	14: 33,971,142 (GRCm39)	V581A	probably damaging	Het
Skap2	C	T	6: 51,886,279 (GRCm39)		probably null	Het
Skint5	A	T	4: 113,797,938 (GRCm39)	M215K	probably damaging	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Tdp1	A	G	12: 99,860,967 (GRCm39)		probably null	Het
Tlr3	G	A	8: 45,849,976 (GRCm39)	L898F	probably damaging	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn1r33	A	T	6: 66,588,701 (GRCm39)	D284E	possibly damaging	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Yme1l1	A	T	2: 23,081,092 (GRCm39)	T455S	possibly damaging	Het
Zfp111	T	C	7: 23,898,891 (GRCm39)	N241S	possibly damaging	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
R0418:Tpbg	UTSW	9	85,726,803 (GRCm39)	nonsense	probably null
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
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'- GCTCATTTATCTCCGCCTAGGG -3'
(R):5'- CCTTGGGATGAGAGCGAAGTTTC -3'

Sequencing Primer
(F):5'- CCCTCGGAGTTGGCTTTGC -3'
(R):5'- CCTCCTTGGATTAGTGTGA -3'

Posted On

2015-04-06