Mutagenetix > Incidental Mutation

Incidental Mutation 'R9263:Epcam'

736058

Institutional Source

Beutler Lab

Gene Symbol

Epcam

Ensembl Gene

ENSMUSG00000045394

Gene Name

epithelial cell adhesion molecule

Synonyms

EpCAM, panepithelial glycoprotein 314, EpCAM1, gp40, TROP1, GA733-2, Egp314, Ly74, EGP-2, CD326, Ep-CAM, Tacstd1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87943407-87958555 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 87947960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000061935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053577]

AlphaFold

Q99JW5

Predicted Effect

probably benign
Transcript: ENSMUST00000053577

SMART Domains

Protein: ENSMUSP00000061935
Gene: ENSMUSG00000045394

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
TY	96	139	3.96e-8	SMART
transmembrane domain	267	289	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (45/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis with decreased embryo size, impaired labyrinth layer development and decreased number of trophoblast giant cells. Mice homozygous for another knock-out allele exhibit impaired intestinal tight junctions with lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c14	T	C	13: 4,113,620 (GRCm39)	S51P	probably damaging	Het
Arhgef38	T	G	3: 132,866,529 (GRCm39)	K203Q		Het
Cacna1d	G	A	14: 29,796,925 (GRCm39)	R1517W	probably damaging	Het
Ccdc80	T	A	16: 44,915,949 (GRCm39)	M235K	probably damaging	Het
Cdc42bpg	T	C	19: 6,372,149 (GRCm39)	S1414P	probably damaging	Het
Dab2ip	A	G	2: 35,602,891 (GRCm39)	D395G	probably damaging	Het
Dmxl2	T	C	9: 54,358,945 (GRCm39)	E255G	probably benign	Het
Dnaja1	T	A	4: 40,724,133 (GRCm39)	M98K	probably benign	Het
Dnajb7	G	A	15: 81,292,266 (GRCm39)	R24C	probably benign	Het
Dscc1	C	A	15: 54,947,505 (GRCm39)	W225L	probably damaging	Het
Dsg2	T	A	18: 20,727,223 (GRCm39)	V590D	probably benign	Het
Fbn2	T	C	18: 58,257,344 (GRCm39)	Y341C	probably damaging	Het
Fry	T	G	5: 150,322,728 (GRCm39)	L1040R	probably damaging	Het
Gm9639	C	T	10: 77,630,828 (GRCm39)	C28Y	unknown	Het
Hsd17b7	A	G	1: 169,794,833 (GRCm39)	S69P	probably damaging	Het
Igsf1	A	G	X: 48,884,191 (GRCm39)	M2T	possibly damaging	Het
Katnip	T	A	7: 125,469,867 (GRCm39)	D1445E	probably damaging	Het
Kmt2d	TGCTGCTGCTGCTGCTGCTGG	TG	15: 98,747,499 (GRCm39)		probably null	Het
Lrp5	T	C	19: 3,654,190 (GRCm39)	Y1079C	probably damaging	Het
Lrp6	T	C	6: 134,457,467 (GRCm39)	D779G	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Pacsin1	A	G	17: 27,923,924 (GRCm39)	D106G	probably damaging	Het
Pcm1	T	A	8: 41,732,790 (GRCm39)	D682E	probably benign	Het
Pex6	A	G	17: 47,023,231 (GRCm39)	D269G	probably benign	Het
Rcor1	T	A	12: 111,078,327 (GRCm39)	V474E		Het
Rdh16	A	G	10: 127,649,306 (GRCm39)	D254G	probably benign	Het
Rp1	A	T	1: 4,418,675 (GRCm39)	D812E	probably benign	Het
Rp1	A	G	1: 4,419,160 (GRCm39)	S651P	probably benign	Het
Sec16b	G	A	1: 157,359,748 (GRCm39)		probably benign	Het
Sephs2	C	T	7: 126,872,122 (GRCm39)	G324S	probably damaging	Het
Sirpb1a	T	C	3: 15,481,992 (GRCm39)	D112G	probably damaging	Het
Slc25a47	C	G	12: 108,820,215 (GRCm39)	T73S	probably benign	Het
Slco4c1	A	T	1: 96,799,509 (GRCm39)	L109H	probably damaging	Het
Smc2	A	G	4: 52,470,848 (GRCm39)	E845G	possibly damaging	Het
Sstr3	G	T	15: 78,423,792 (GRCm39)	N318K	probably damaging	Het
Suz12	A	G	11: 79,904,087 (GRCm39)		probably benign	Het
Sycp2	A	G	2: 178,035,931 (GRCm39)	I252T	probably damaging	Het
Syne3	T	C	12: 104,934,415 (GRCm39)	Y118C	probably damaging	Het
Tbx18	C	A	9: 87,611,521 (GRCm39)	A170S	probably damaging	Het
Trak2	T	C	1: 58,985,481 (GRCm39)	N6D	probably benign	Het
Ttn	G	A	2: 76,720,868 (GRCm39)	T6852I	unknown	Het
Tufm	A	G	7: 126,088,100 (GRCm39)	E201G	probably damaging	Het
Vwa3b	C	A	1: 37,099,493 (GRCm39)	P236Q	probably benign	Het
Xirp2	A	G	2: 67,345,289 (GRCm39)	Y2510C	possibly damaging	Het

Other mutations in Epcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02739:Epcam	APN	17	87,947,922 (GRCm39)	missense	probably benign	0.30
R0664:Epcam	UTSW	17	87,947,398 (GRCm39)	missense	possibly damaging	0.86
R1612:Epcam	UTSW	17	87,947,366 (GRCm39)	missense	possibly damaging	0.87
R1693:Epcam	UTSW	17	87,947,324 (GRCm39)	missense	probably benign
R1719:Epcam	UTSW	17	87,949,556 (GRCm39)	missense	probably damaging	1.00
R1998:Epcam	UTSW	17	87,947,902 (GRCm39)	missense	probably damaging	1.00
R3872:Epcam	UTSW	17	87,947,354 (GRCm39)	missense	possibly damaging	0.79
R4297:Epcam	UTSW	17	87,947,962 (GRCm39)	splice site	probably null
R4298:Epcam	UTSW	17	87,947,962 (GRCm39)	splice site	probably null
R4866:Epcam	UTSW	17	87,951,049 (GRCm39)	missense	possibly damaging	0.79
R4900:Epcam	UTSW	17	87,951,049 (GRCm39)	missense	possibly damaging	0.79
R5091:Epcam	UTSW	17	87,949,580 (GRCm39)	missense	probably damaging	1.00
R5301:Epcam	UTSW	17	87,944,305 (GRCm39)	missense	possibly damaging	0.92
R6207:Epcam	UTSW	17	87,947,864 (GRCm39)	missense	probably damaging	1.00
R7576:Epcam	UTSW	17	87,947,721 (GRCm39)	missense	probably damaging	1.00
R7751:Epcam	UTSW	17	87,947,904 (GRCm39)	nonsense	probably null
R7795:Epcam	UTSW	17	87,950,983 (GRCm39)	missense	probably benign	0.08
R8022:Epcam	UTSW	17	87,953,736 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGCGATCCAGAACAACGATG -3'
(R):5'- ACTGGATTAGGGCCAATAAAGC -3'

Sequencing Primer
(F):5'- TCCAGAACAACGATGGGCTGTAC -3'
(R):5'- GTGACTGCCATTTCATGAGGCAC -3'

Posted On

2023-03-15