Incidental Mutation 'IGL02739:Epcam'
| ID |
305815 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02739
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
87943407-87958555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87947922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 131
(T131S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053577]
|
| AlphaFold |
Q99JW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053577
AA Change: T131S
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000061935
Gene: ENSMUSG00000045394
AA Change: T131S
| 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 |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,026,364 (GRCm39) |
C887S |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,807,605 (GRCm39) |
E352* |
probably null |
Het |
| Bglap2 |
A |
T |
3: 88,285,319 (GRCm39) |
|
probably null |
Het |
| Bsn |
A |
T |
9: 107,989,745 (GRCm39) |
H2002Q |
probably benign |
Het |
| Chtop |
T |
A |
3: 90,409,557 (GRCm39) |
Q165L |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,263,714 (GRCm39) |
|
probably null |
Het |
| Ctsr |
T |
C |
13: 61,309,658 (GRCm39) |
T184A |
probably benign |
Het |
| Defb36 |
T |
C |
2: 152,446,439 (GRCm39) |
L11P |
unknown |
Het |
| Dock8 |
A |
G |
19: 25,165,852 (GRCm39) |
E1912G |
probably damaging |
Het |
| Dpp3 |
A |
G |
19: 4,973,756 (GRCm39) |
Y106H |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 87,112,710 (GRCm39) |
T103A |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,230,563 (GRCm39) |
|
probably benign |
Het |
| Gh |
T |
A |
11: 106,192,559 (GRCm39) |
|
probably benign |
Het |
| Kif20a |
A |
T |
18: 34,761,996 (GRCm39) |
K399* |
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,388,227 (GRCm39) |
I466T |
probably damaging |
Het |
| Nlk |
A |
G |
11: 78,465,677 (GRCm39) |
V409A |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,693,731 (GRCm39) |
|
probably null |
Het |
| Nr2c1 |
T |
A |
10: 93,992,834 (GRCm39) |
M16K |
probably damaging |
Het |
| Nxph2 |
A |
T |
2: 23,289,912 (GRCm39) |
Q88L |
probably benign |
Het |
| Or51a39 |
A |
G |
7: 102,363,521 (GRCm39) |
I33T |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,703,895 (GRCm39) |
R680S |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,404,346 (GRCm39) |
N2325I |
probably benign |
Het |
| Pnliprp2 |
T |
C |
19: 58,748,941 (GRCm39) |
|
probably null |
Het |
| Ppp1r42 |
T |
A |
1: 10,039,078 (GRCm39) |
K347N |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,758,867 (GRCm39) |
V407A |
possibly damaging |
Het |
| Psmb8 |
C |
A |
17: 34,419,728 (GRCm39) |
S194* |
probably null |
Het |
| Rnf214 |
T |
C |
9: 45,780,772 (GRCm39) |
I406V |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,077,797 (GRCm39) |
S3L |
probably damaging |
Het |
| Sdad1 |
C |
T |
5: 92,437,931 (GRCm39) |
A539T |
probably benign |
Het |
| Sema3a |
A |
G |
5: 13,501,128 (GRCm39) |
Y57C |
probably damaging |
Het |
| Susd5 |
A |
G |
9: 113,925,101 (GRCm39) |
E328G |
possibly damaging |
Het |
| Syngr3 |
T |
C |
17: 24,905,372 (GRCm39) |
T175A |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,740,281 (GRCm39) |
Q390L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,071,721 (GRCm39) |
T2423A |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,469 (GRCm39) |
N36S |
probably benign |
Het |
| Uchl4 |
C |
T |
9: 64,142,819 (GRCm39) |
T100M |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,612,129 (GRCm39) |
K11R |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,880,046 (GRCm39) |
D3040E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,941,885 (GRCm39) |
Y640* |
probably null |
Het |
| Zkscan17 |
T |
G |
11: 59,394,352 (GRCm39) |
E83A |
probably damaging |
Het |
|
| Other mutations in Epcam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9263:Epcam
|
UTSW |
17 |
87,947,960 (GRCm39) |
splice site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation