Incidental Mutation 'IGL01643:Ereg'
| ID |
93581 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ereg
|
| Ensembl Gene |
ENSMUSG00000029377 |
| Gene Name |
epiregulin |
| Synonyms |
EPR |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL01643
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
91222481-91241505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91234637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 17
(S17T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031324]
|
| AlphaFold |
Q61521 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031324
AA Change: S17T
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031324
Gene: ENSMUSG00000029377
AA Change: S17T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
EGF
|
60 |
97 |
2.9e-2 |
SMART |
|
transmembrane domain
|
112 |
134 |
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 secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice for one allele develop chronic dermatitis. Homozygous null mice for another allele display increased sensitivity to dextran sulfate sodium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,082,414 (GRCm39) |
R304Q |
probably damaging |
Het |
| Afap1l1 |
T |
A |
18: 61,884,897 (GRCm39) |
E196V |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,746,895 (GRCm39) |
D251V |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,288,839 (GRCm39) |
H334R |
probably benign |
Het |
| Crnkl1 |
A |
G |
2: 145,773,268 (GRCm39) |
M126T |
probably damaging |
Het |
| Ddrgk1 |
T |
C |
2: 130,500,214 (GRCm39) |
|
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,290,184 (GRCm39) |
|
probably benign |
Het |
| Eral1 |
A |
G |
11: 77,965,104 (GRCm39) |
|
probably null |
Het |
| Fgfr1 |
T |
A |
8: 26,056,751 (GRCm39) |
M280K |
probably benign |
Het |
| Gpr65 |
A |
G |
12: 98,242,013 (GRCm39) |
E222G |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,045,392 (GRCm39) |
|
probably null |
Het |
| Hspa12b |
A |
G |
2: 130,984,617 (GRCm39) |
T329A |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,798,400 (GRCm39) |
I863V |
probably damaging |
Het |
| Kash5 |
A |
T |
7: 44,849,710 (GRCm39) |
M71K |
probably damaging |
Het |
| Krt8 |
G |
T |
15: 101,905,508 (GRCm39) |
S447Y |
possibly damaging |
Het |
| Lama2 |
T |
A |
10: 26,946,368 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
A |
C |
10: 38,932,846 (GRCm39) |
N574T |
probably benign |
Het |
| Lig3 |
T |
C |
11: 82,689,118 (GRCm39) |
S791P |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,874,252 (GRCm39) |
|
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,017 (GRCm39) |
I116F |
probably damaging |
Het |
| Pdk1 |
A |
G |
2: 71,728,049 (GRCm39) |
D370G |
probably damaging |
Het |
| Popdc3 |
T |
A |
10: 45,190,976 (GRCm39) |
I29N |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,678,793 (GRCm39) |
I914F |
probably benign |
Het |
| Rnf207 |
C |
T |
4: 152,402,718 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,707,563 (GRCm39) |
I2825F |
possibly damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,146,849 (GRCm39) |
|
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,336,972 (GRCm39) |
V791A |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,599,877 (GRCm39) |
L127P |
probably damaging |
Het |
| Whrn |
T |
C |
4: 63,334,672 (GRCm39) |
T368A |
possibly damaging |
Het |
|
| Other mutations in Ereg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Ereg
|
APN |
5 |
91,222,638 (GRCm39) |
missense |
probably benign |
|
|
IGL01927:Ereg
|
APN |
5 |
91,234,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Ereg
|
APN |
5 |
91,236,440 (GRCm39) |
splice site |
probably benign |
|
|
I0000:Ereg
|
UTSW |
5 |
91,237,068 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0245:Ereg
|
UTSW |
5 |
91,222,659 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4366:Ereg
|
UTSW |
5 |
91,234,659 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4958:Ereg
|
UTSW |
5 |
91,237,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Ereg
|
UTSW |
5 |
91,222,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5911:Ereg
|
UTSW |
5 |
91,222,552 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6838:Ereg
|
UTSW |
5 |
91,236,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8356:Ereg
|
UTSW |
5 |
91,237,993 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8456:Ereg
|
UTSW |
5 |
91,237,993 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8712:Ereg
|
UTSW |
5 |
91,237,013 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0009:Ereg
|
UTSW |
5 |
91,237,943 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1176:Ereg
|
UTSW |
5 |
91,237,979 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2013-12-09 |
Incidental Mutation