Incidental Mutation 'I0000:Ereg'
| ID |
7851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ereg
|
| Ensembl Gene |
ENSMUSG00000029377 |
| Gene Name |
epiregulin |
| Synonyms |
EPR |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
I0000 (G3)
of strain
635
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
91222481-91241505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91237068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 129
(C129Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031324]
|
| AlphaFold |
Q61521 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031324
AA Change: C129Y
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031324
Gene: ENSMUSG00000029377
AA Change: C129Y
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
67% (62/92) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,376,716 (GRCm39) |
V1933A |
probably damaging |
Het |
| Acsm4 |
T |
A |
7: 119,310,415 (GRCm39) |
F467I |
probably damaging |
Het |
| Ankrd55 |
A |
T |
13: 112,485,259 (GRCm39) |
|
probably benign |
Het |
| Bfsp1 |
T |
C |
2: 143,687,888 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ccdc61 |
A |
G |
7: 18,637,474 (GRCm39) |
I51T |
probably damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,547,259 (GRCm39) |
L43P |
probably damaging |
Het |
| Ddias |
A |
G |
7: 92,515,848 (GRCm39) |
V15A |
possibly damaging |
Het |
| Dpp6 |
A |
T |
5: 27,603,920 (GRCm39) |
T62S |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,888,688 (GRCm39) |
G2745S |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,528,540 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,786,477 (GRCm39) |
|
probably benign |
Het |
| Hsd17b4 |
A |
G |
18: 50,293,295 (GRCm39) |
D278G |
probably benign |
Homo |
| Ifitm3 |
A |
G |
7: 140,590,441 (GRCm39) |
S40P |
possibly damaging |
Het |
| Klf5 |
C |
T |
14: 99,540,911 (GRCm39) |
T307M |
probably damaging |
Homo |
| Lnpep |
A |
T |
17: 17,799,233 (GRCm39) |
C141S |
probably damaging |
Homo |
| Mmp19 |
A |
T |
10: 128,634,329 (GRCm39) |
D362V |
probably benign |
Het |
| Or4a72 |
T |
C |
2: 89,405,497 (GRCm39) |
Y191C |
probably damaging |
Het |
| Pnpla6 |
G |
A |
8: 3,592,322 (GRCm39) |
A1222T |
probably benign |
Het |
| Rbm26 |
C |
A |
14: 105,391,003 (GRCm39) |
R161L |
unknown |
Homo |
| Selenon |
G |
A |
4: 134,270,012 (GRCm39) |
|
probably benign |
Het |
| Septin11 |
A |
G |
5: 93,313,118 (GRCm39) |
T322A |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,065,518 (GRCm39) |
D37E |
probably benign |
Het |
| Tango2 |
G |
A |
16: 18,130,530 (GRCm39) |
R80W |
possibly damaging |
Homo |
| Tjap1 |
C |
T |
17: 46,569,955 (GRCm39) |
C345Y |
probably damaging |
Homo |
| Wdr62 |
T |
C |
7: 29,944,752 (GRCm39) |
D455G |
probably benign |
Het |
| Zbtb48 |
A |
G |
4: 152,104,315 (GRCm39) |
I671T |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,710,485 (GRCm39) |
L736P |
probably damaging |
Homo |
|
| Other mutations in Ereg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Ereg
|
APN |
5 |
91,222,638 (GRCm39) |
missense |
probably benign |
|
|
IGL01643:Ereg
|
APN |
5 |
91,234,637 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
|
|
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 |
2012-11-05 |
Incidental Mutation