Mutagenetix > Incidental Mutation

Incidental Mutation 'R5301:Epcam'

404272

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

042884-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5301 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

87943407-87958555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87944305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 20 (L20Q)

Ref Sequence

ENSEMBL: ENSMUSP00000061935 (fasta)

Gene Model

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

AlphaFold

Q99JW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053577
AA Change: L20Q

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061935
Gene: ENSMUSG00000045394
AA Change: L20Q

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: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

93% (52/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,896,502 (GRCm39)	V578A	probably damaging	Het
Abcb11	T	C	2: 69,117,191 (GRCm39)	I486V	probably damaging	Het
Abcc9	G	A	6: 142,536,207 (GRCm39)	T1509I	probably benign	Het
Akr1c20	T	A	13: 4,573,279 (GRCm39)	D12V	probably damaging	Het
Asb1	A	G	1: 91,482,475 (GRCm39)	Y66C	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Bcl10	A	G	3: 145,636,342 (GRCm39)	D80G	probably damaging	Het
Bdnf	T	C	2: 109,553,884 (GRCm39)	V46A	probably benign	Het
Cyp11a1	A	G	9: 57,926,544 (GRCm39)		probably benign	Het
Cyp3a44	A	G	5: 145,725,326 (GRCm39)	S292P	probably damaging	Het
Desi2	A	G	1: 178,071,952 (GRCm39)	I85M	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock10	T	C	1: 80,625,973 (GRCm39)	D49G	probably benign	Het
Ercc4	T	C	16: 12,948,550 (GRCm39)	V589A	probably damaging	Het
Fcgbp	A	T	7: 27,793,099 (GRCm39)	K1034N	possibly damaging	Het
Fras1	C	T	5: 96,805,125 (GRCm39)	L1256F	possibly damaging	Het
Gata5	T	C	2: 179,975,786 (GRCm39)	Y126C	probably damaging	Het
Gja1	T	C	10: 56,264,475 (GRCm39)	L278P	probably damaging	Het
Gm11596	C	A	11: 99,683,847 (GRCm39)	R91L	unknown	Het
Gm29125	A	T	1: 80,362,154 (GRCm39)		noncoding transcript	Het
Hcrtr1	G	T	4: 130,031,463 (GRCm39)		probably null	Het
Ifi207	G	A	1: 173,556,977 (GRCm39)	S587L	possibly damaging	Het
Ino80d	T	C	1: 63,113,578 (GRCm39)	T291A	probably benign	Het
Itgb3	A	G	11: 104,524,480 (GRCm39)		probably null	Het
Kif26b	A	G	1: 178,358,233 (GRCm39)	S115G	unknown	Het
Klc3	T	C	7: 19,130,274 (GRCm39)	Y301C	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Meioc	A	T	11: 102,570,871 (GRCm39)	R867S	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mthfd2	C	A	6: 83,287,465 (GRCm39)	G200V	probably damaging	Het
Nrap	A	G	19: 56,367,541 (GRCm39)	I312T	probably damaging	Het
Nrp1	T	G	8: 129,160,678 (GRCm39)		probably null	Het
Obscn	A	G	11: 59,026,234 (GRCm39)	L323P	probably damaging	Het
Or11g1	T	C	14: 50,651,030 (GRCm39)	S10P	probably benign	Het
Or1b1	C	T	2: 36,995,210 (GRCm39)	V151M	probably benign	Het
Or9i14	G	A	19: 13,792,933 (GRCm39)	T7I	probably damaging	Het
Pkn2	A	C	3: 142,544,967 (GRCm39)		probably null	Het
Ppp1r18	A	G	17: 36,179,237 (GRCm39)	R371G	probably benign	Het
Prkar2b	A	C	12: 32,025,927 (GRCm39)	V31G	probably damaging	Het
Reg3b	T	A	6: 78,348,243 (GRCm39)	M19K	probably damaging	Het
Sec14l2	G	A	11: 4,068,727 (GRCm39)		probably benign	Het
Sgca	C	T	11: 94,854,157 (GRCm39)	R104Q	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Sorcs2	A	G	5: 36,196,734 (GRCm39)	V637A	probably damaging	Het
Tdrd9	T	A	12: 112,002,963 (GRCm39)		probably null	Het
Tmem181a	T	C	17: 6,346,070 (GRCm39)	I229T	possibly damaging	Het
Tmpo	A	T	10: 90,985,650 (GRCm39)		probably benign	Het
Ttc41	T	C	10: 86,555,384 (GRCm39)	V280A	probably benign	Het
Vmn1r234	G	T	17: 21,449,589 (GRCm39)	V168F	probably benign	Het
Vmn2r96	T	A	17: 18,817,950 (GRCm39)	I701N	probably damaging	Het
Wnt16	T	A	6: 22,297,848 (GRCm39)	M238K	probably damaging	Het
Zfp607b	A	G	7: 27,403,172 (GRCm39)	T543A	probably benign	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
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'- TCGGTTTGACTTGGTATCCC -3'
(R):5'- TGGAACCCCAAGTTGGAGTC -3'

Sequencing Primer
(F):5'- GTACTGGAATCCCCGCCTCTG -3'
(R):5'- CCAGACCTGGGGCGGTG -3'

Posted On

2016-07-22