Mutagenetix > Incidental Mutation

Incidental Mutation 'R5091:Epcam'

387779

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

042680-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87943407-87958555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87949580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 181 (I181T)

Ref Sequence

ENSEMBL: ENSMUSP00000061935 (fasta)

Gene Model

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

AlphaFold

Q99JW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053577
AA Change: I181T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061935
Gene: ENSMUSG00000045394
AA Change: I181T

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

Meta Mutation Damage Score

0.8127

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,701,057 (GRCm39)	S174P	probably damaging	Het
4931414P19Rik	T	C	14: 54,823,168 (GRCm39)	E343G	probably damaging	Het
Abca14	T	C	7: 119,851,497 (GRCm39)	V825A	probably damaging	Het
Abca8b	G	T	11: 109,827,210 (GRCm39)	T1466K	possibly damaging	Het
Adcy8	A	G	15: 64,678,553 (GRCm39)	S467P	probably damaging	Het
Agbl4	T	C	4: 110,976,237 (GRCm39)	V198A	possibly damaging	Het
Agpat4	A	G	17: 12,417,699 (GRCm39)	K80R	probably benign	Het
Akap8	T	C	17: 32,535,208 (GRCm39)	T269A	probably benign	Het
Ankhd1	A	T	18: 36,758,080 (GRCm39)	I925F	possibly damaging	Het
Aste1	A	G	9: 105,282,203 (GRCm39)	Y57C	probably damaging	Het
Axdnd1	A	G	1: 156,247,980 (GRCm39)	S7P	possibly damaging	Het
BC051019	T	A	7: 109,319,789 (GRCm39)	R91S	probably null	Het
Cavin2	C	A	1: 51,340,398 (GRCm39)	N358K	probably benign	Het
Cd2	T	C	3: 101,190,355 (GRCm39)	N196S	probably benign	Het
Clca3a1	C	T	3: 144,436,483 (GRCm39)	V867I	probably benign	Het
Col6a4	T	A	9: 105,952,262 (GRCm39)	K545N	probably damaging	Het
Cps1	T	A	1: 67,268,679 (GRCm39)		probably null	Het
Cyp2c65	A	T	19: 39,076,009 (GRCm39)		probably null	Het
Dcaf6	T	C	1: 165,157,572 (GRCm39)	D856G	possibly damaging	Het
Esrp2	A	G	8: 106,859,061 (GRCm39)	S562P	probably damaging	Het
Fcgbpl1	A	C	7: 27,856,383 (GRCm39)	I2057L	probably benign	Het
Ffar4	A	G	19: 38,085,627 (GRCm39)	D18G	probably benign	Het
Gen1	C	T	12: 11,296,347 (GRCm39)	V337I	probably damaging	Het
Gimap8	C	T	6: 48,633,581 (GRCm39)	P467S	possibly damaging	Het
Gnl3	T	A	14: 30,738,803 (GRCm39)	H82L	possibly damaging	Het
Grid2	T	C	6: 64,053,862 (GRCm39)	S354P	probably benign	Het
Ighmbp2	T	A	19: 3,315,084 (GRCm39)	T779S	possibly damaging	Het
Ints15	C	T	5: 143,293,443 (GRCm39)	E345K	possibly damaging	Het
Kif19a	C	A	11: 114,673,923 (GRCm39)	T348N	probably damaging	Het
Lrrc15	T	A	16: 30,092,172 (GRCm39)	N389I	probably damaging	Het
Mrps26	A	G	2: 130,405,886 (GRCm39)	Y63C	probably damaging	Het
Myd88	C	A	9: 119,166,889 (GRCm39)	V223F	possibly damaging	Het
Nox4	T	A	7: 87,025,450 (GRCm39)	W526R	probably damaging	Het
Nrg2	A	T	18: 36,185,838 (GRCm39)	N300K	probably damaging	Het
Nsmf	T	C	2: 24,950,464 (GRCm39)		probably benign	Het
Patl2	A	C	2: 121,954,283 (GRCm39)	H429Q	probably benign	Het
Pcdhb12	A	T	18: 37,568,907 (GRCm39)	K18*	probably null	Het
Peg10	T	A	6: 4,754,511 (GRCm39)	D97E	probably benign	Het
Runx1t1	C	T	4: 13,846,830 (GRCm39)	Q205*	probably null	Het
Selenon	T	C	4: 134,275,284 (GRCm39)	K138R	probably damaging	Het
Slc13a3	T	C	2: 165,262,000 (GRCm39)	E369G	probably benign	Het
Sorcs1	A	G	19: 50,248,190 (GRCm39)		probably null	Het
Sptbn4	A	T	7: 27,068,816 (GRCm39)	M499K	probably damaging	Het
Sra1	A	T	18: 36,803,012 (GRCm39)		probably benign	Het
Stra6	T	C	9: 58,048,429 (GRCm39)	L174P	probably damaging	Het
Syngr1	T	C	15: 80,000,086 (GRCm39)	Y66H	probably damaging	Het
Synpo	G	T	18: 60,735,831 (GRCm39)	S466*	probably null	Het
Tenm3	T	A	8: 48,795,343 (GRCm39)	M595L	probably benign	Het
Tnks	T	C	8: 35,308,963 (GRCm39)	T1099A	probably benign	Het
Tram1l1	G	T	3: 124,115,400 (GRCm39)	V187F	possibly damaging	Het
Trappc11	T	C	8: 47,965,639 (GRCm39)	E529G	probably benign	Het
Usp17la	T	C	7: 104,510,139 (GRCm39)	V248A	probably damaging	Het
Virma	T	C	4: 11,519,392 (GRCm39)	Y880H	probably benign	Het
Vmn1r214	C	T	13: 23,219,571 (GRCm39)	T355I	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,205 (GRCm39)	K784R	possibly damaging	Het
Wrap53	C	T	11: 69,453,273 (GRCm39)	W389*	probably null	Het
Zfp748	A	G	13: 67,689,638 (GRCm39)	S541P	probably 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
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
R9263:Epcam	UTSW	17	87,947,960 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGCACACCAAGTCCCAAGT -3'
(R):5'- GAGCTTGTGAGGTCGATGGA -3'

Sequencing Primer
(F):5'- CTAGGGCTAGCTACATAATGAGCC -3'
(R):5'- CAGGCTGATCTCTGAATTCCAGG -3'

Posted On

2016-06-06