Mutagenetix > Incidental Mutation

Incidental Mutation 'R3872:Epcam'

276644

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

040790-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87943407-87958555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87947354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 36 (T36K)

Ref Sequence

ENSEMBL: ENSMUSP00000061935 (fasta)

Gene Model

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

AlphaFold

Q99JW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053577
AA Change: T36K

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061935
Gene: ENSMUSG00000045394
AA Change: T36K

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,045 (GRCm39)	E1117G	possibly damaging	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Baz2a	T	A	10: 127,959,979 (GRCm39)	M1419K	probably damaging	Het
Bhmt-ps1	T	C	4: 26,369,201 (GRCm39)		noncoding transcript	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Car12	C	A	9: 66,624,834 (GRCm39)		probably benign	Het
Cic	T	C	7: 24,971,124 (GRCm39)	V285A	possibly damaging	Het
Col19a1	A	G	1: 24,614,408 (GRCm39)		probably benign	Het
Col6a4	T	C	9: 105,890,858 (GRCm39)	N1812S	possibly damaging	Het
Cry1	T	C	10: 84,969,024 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dlx5	G	T	6: 6,878,209 (GRCm39)	P274T	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnah5	A	G	15: 28,411,656 (GRCm39)	K3675R	possibly damaging	Het
Dpp6	A	G	5: 27,926,056 (GRCm39)	Y710C	probably damaging	Het
Dsc3	C	A	18: 20,104,565 (GRCm39)	K587N	probably damaging	Het
Eif1ad10	T	C	12: 88,216,476 (GRCm39)	D132G	unknown	Het
Epha2	T	C	4: 141,035,716 (GRCm39)	W51R	probably damaging	Het
Eya4	A	T	10: 23,031,870 (GRCm39)	I251N	probably damaging	Het
Fbxo21	G	A	5: 118,138,394 (GRCm39)	V447I	possibly damaging	Het
Firrm	A	T	1: 163,814,533 (GRCm39)	S137T	probably damaging	Het
Frg2f1	T	A	4: 119,388,155 (GRCm39)	T115S	possibly damaging	Het
Hecw2	A	T	1: 53,871,916 (GRCm39)		probably benign	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Iqca1	A	T	1: 90,017,203 (GRCm39)	Y411N	probably damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt34	T	C	11: 99,932,243 (GRCm39)	H27R	probably benign	Het
Mia3	T	C	1: 183,138,342 (GRCm39)	E791G	probably benign	Het
Mroh2b	A	T	15: 4,954,543 (GRCm39)	K669*	probably null	Het
Msmo1	C	T	8: 65,175,497 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,226,867 (GRCm39)	T1387A	probably benign	Het
Myo1g	C	T	11: 6,464,886 (GRCm39)	V463I	possibly damaging	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Pde10a	C	A	17: 8,975,923 (GRCm39)	T16K	possibly damaging	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Phb2	G	A	6: 124,693,394 (GRCm39)		probably null	Het
Plin3	A	G	17: 56,591,181 (GRCm39)	S200P	probably damaging	Het
Plxna1	C	A	6: 89,309,674 (GRCm39)	E1087*	probably null	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Sacs	C	T	14: 61,385,517 (GRCm39)	T6M	probably benign	Het
Scfd1	A	G	12: 51,438,979 (GRCm39)	Y147C	probably damaging	Het
Septin1	T	C	7: 126,814,447 (GRCm39)		probably benign	Het
Septin5	A	G	16: 18,441,723 (GRCm39)	L344P	probably damaging	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Slc35f1	A	G	10: 52,898,006 (GRCm39)	D139G	possibly damaging	Het
Sod3	A	G	5: 52,525,631 (GRCm39)	Y110C	probably damaging	Het
Stk35	T	C	2: 129,652,495 (GRCm39)	V332A	possibly damaging	Het
Tacc2	C	T	7: 130,224,152 (GRCm39)	T279M	probably benign	Het
Tdo2	T	C	3: 81,875,393 (GRCm39)	E187G	probably benign	Het
Tmem150b	A	T	7: 4,727,360 (GRCm39)	Y48*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r60	C	T	7: 41,785,878 (GRCm39)	S227L	probably benign	Het
Vps33a	C	T	5: 123,669,255 (GRCm39)	V549I	probably benign	Het
Zfp788	T	A	7: 41,298,868 (GRCm39)	Y449*	probably null	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
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
R9263:Epcam	UTSW	17	87,947,960 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGTATGACAAGGCACATAGGTG -3'
(R):5'- GGATTATTCACGCGCCCTTC -3'

Sequencing Primer
(F):5'- TGGAGGACTAAAGGCGTGC -3'
(R):5'- CCGCACTGAATTACTGGCTGAAG -3'

Posted On

2015-04-06