Mutagenetix > Incidental Mutation

Incidental Mutation 'R9319:Tpbg'

706044

Institutional Source

Beutler Lab

Gene Symbol

Tpbg

Ensembl Gene

ENSMUSG00000035274

Gene Name

trophoblast glycoprotein

Synonyms

5T4 oncofetal antigen, 5T4

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85724433-85729093 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 85725991 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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,922,446 (GRCm39)	D811G	probably damaging	Het
Akap13	A	G	7: 75,258,836 (GRCm39)	T487A	probably benign	Het
Ankrd6	C	T	4: 32,806,324 (GRCm39)	S643N	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Camk2b	G	T	11: 5,927,814 (GRCm39)	P489Q	probably benign	Het
Cd22	T	A	7: 30,569,329 (GRCm39)	N596Y	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cobl	A	T	11: 12,203,648 (GRCm39)	V1018E	probably benign	Het
Cttn	T	C	7: 144,017,100 (GRCm39)	E34G	probably damaging	Het
Dhx15	G	A	5: 52,342,193 (GRCm39)	R42*	probably null	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dlst	G	T	12: 85,170,585 (GRCm39)	R238L	probably damaging	Het
Dnah7c	A	G	1: 46,521,168 (GRCm39)	E232G	possibly damaging	Het
Dsg1b	C	T	18: 20,531,004 (GRCm39)	Q452*	probably null	Het
Elovl3	A	G	19: 46,122,507 (GRCm39)	T102A	possibly damaging	Het
Epas1	A	G	17: 87,104,545 (GRCm39)	S10G	possibly damaging	Het
Fads2b	G	A	2: 85,320,757 (GRCm39)	R349C	probably damaging	Het
Fanca	T	C	8: 124,018,190 (GRCm39)	I613V	probably benign	Het
Fat1	T	A	8: 45,406,060 (GRCm39)	V937D	probably damaging	Het
Glipr1l1	G	T	10: 111,898,122 (GRCm39)	A76S	probably damaging	Het
Ino80	T	C	2: 119,205,005 (GRCm39)	D1507G	probably benign	Het
Ipo13	T	C	4: 117,769,585 (GRCm39)	D69G	probably benign	Het
Kif2c	T	C	4: 117,035,445 (GRCm39)		probably null	Het
Lrrc61	C	A	6: 48,545,228 (GRCm39)	T17K	probably damaging	Het
Ltk	C	A	2: 119,590,096 (GRCm39)	E43D	probably benign	Het
Mcm3ap	A	G	10: 76,318,638 (GRCm39)	T720A	probably damaging	Het
Mcoln2	T	A	3: 145,875,691 (GRCm39)	V81D	probably damaging	Het
Mturn	T	A	6: 54,658,780 (GRCm39)	V9D	probably benign	Het
Nrg1	T	C	8: 32,323,204 (GRCm39)	D249G	probably benign	Het
Ntng2	T	C	2: 29,091,121 (GRCm39)		probably benign	Het
Odad3	T	C	9: 21,906,203 (GRCm39)	D245G	probably damaging	Het
Pax3	T	A	1: 78,080,079 (GRCm39)	M436L	probably benign	Het
Pias4	G	A	10: 80,991,750 (GRCm39)	P53S	unknown	Het
Pkhd1l1	C	T	15: 44,392,974 (GRCm39)	R1770C	possibly damaging	Het
Plk1	C	A	7: 121,768,122 (GRCm39)	D447E	probably damaging	Het
Rsph10b	A	C	5: 143,903,337 (GRCm39)	M611L	probably benign	Het
Scart1	C	T	7: 139,807,940 (GRCm39)	P704S	possibly damaging	Het
Snrnp40	T	C	4: 130,256,545 (GRCm39)	L90P	possibly damaging	Het
Snu13	T	C	15: 81,928,218 (GRCm39)	T2A	probably benign	Het
Sptlc3	C	T	2: 139,478,730 (GRCm39)	A563V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmx3	A	G	18: 90,558,068 (GRCm39)	I373M	probably benign	Het
Troap	T	C	15: 98,975,444 (GRCm39)	I176T	probably benign	Het
Trpm2	G	A	10: 77,778,776 (GRCm39)	Q397*	probably null	Het
Trpm2	A	T	10: 77,785,032 (GRCm39)	V196E	probably damaging	Het
Vac14	T	A	8: 111,361,018 (GRCm39)	I196N	probably damaging	Het
Vmn2r71	C	T	7: 85,273,694 (GRCm39)	P836L	probably 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
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
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'- CTACTTGGTTCGTACTCGGG -3'
(R):5'- TCATCTGGTTGCCGGTAAGG -3'

Sequencing Primer
(F):5'- ATCCGATCCTGCCCTGAGAG -3'
(R):5'- CGGTTCACGCACTTAACCG -3'

Posted On

2022-03-25