Incidental Mutation 'IGL01927:Ereg'
ID |
180321 |
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 # |
IGL01927
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
91222481-91241505 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 91234671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 28
(V28E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031324]
|
AlphaFold |
Q61521 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031324
AA Change: V28E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031324 Gene: ENSMUSG00000029377 AA Change: V28E
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
A |
G |
2: 35,266,026 (GRCm39) |
Y215H |
probably damaging |
Het |
Acsm2 |
T |
C |
7: 119,177,435 (GRCm39) |
F317L |
possibly damaging |
Het |
Akr1d1 |
A |
G |
6: 37,541,394 (GRCm39) |
D297G |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,150,231 (GRCm39) |
|
probably benign |
Het |
Atp8b4 |
T |
C |
2: 126,164,896 (GRCm39) |
Y1140C |
probably damaging |
Het |
Cap2 |
T |
A |
13: 46,789,109 (GRCm39) |
S105T |
probably benign |
Het |
Cspg5 |
A |
T |
9: 110,091,152 (GRCm39) |
I414F |
probably damaging |
Het |
Dipk1b |
A |
G |
2: 26,526,127 (GRCm39) |
M354V |
probably benign |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Ift81 |
G |
A |
5: 122,731,192 (GRCm39) |
T321M |
probably benign |
Het |
Kcnip2 |
T |
A |
19: 45,784,044 (GRCm39) |
Q95L |
probably damaging |
Het |
Meis1 |
C |
T |
11: 18,831,811 (GRCm39) |
R409H |
probably benign |
Het |
Opa1 |
T |
C |
16: 29,405,813 (GRCm39) |
I126T |
probably benign |
Het |
Osbpl8 |
T |
C |
10: 111,106,477 (GRCm39) |
Y295H |
probably benign |
Het |
Ppip5k2 |
A |
T |
1: 97,640,848 (GRCm39) |
V1005E |
probably damaging |
Het |
Prdm10 |
A |
G |
9: 31,246,694 (GRCm39) |
|
probably benign |
Het |
Rptor |
T |
A |
11: 119,548,500 (GRCm39) |
V58E |
probably damaging |
Het |
Togaram1 |
C |
T |
12: 65,023,476 (GRCm39) |
A687V |
probably benign |
Het |
Vmn2r1 |
T |
C |
3: 63,989,105 (GRCm39) |
F15L |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r82 |
T |
C |
10: 79,213,906 (GRCm39) |
L164P |
probably damaging |
Het |
Zfp623 |
T |
A |
15: 75,819,354 (GRCm39) |
N103K |
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 |
|
IGL01643:Ereg
|
APN |
5 |
91,234,637 (GRCm39) |
missense |
probably benign |
0.10 |
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 |
2014-05-07 |