Incidental Mutation 'IGL01971:Areg'
| ID |
182554 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Areg
|
| Ensembl Gene |
ENSMUSG00000029378 |
| Gene Name |
amphiregulin |
| Synonyms |
Mcub, Sdgf, AR |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
91287458-91296291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91288870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 59
(T59A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031325]
|
| AlphaFold |
P31955 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031325
AA Change: T59A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000031325
Gene: ENSMUSG00000029378
AA Change: T59A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
EGF
|
138 |
175 |
7.41e0 |
SMART |
|
transmembrane domain
|
193 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
240 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the epidermal growth factor (EGF) family and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and has been shown to play a role in immunity, inflammation, tissue repair, and lung and mammary gland development. Homozygous knockout mice for this gene exhibit impaired immune system regulation in the skin and gene expression changes characteristic of chronic liver damage. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired development of mammary gland ducts in pubescent females. Mutant ducts show retarded elongation with few terminal end buds. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
C |
T |
7: 29,273,987 (GRCm39) |
|
noncoding transcript |
Het |
| Ankmy2 |
A |
T |
12: 36,243,792 (GRCm39) |
K336* |
probably null |
Het |
| Atp8b4 |
T |
C |
2: 126,304,536 (GRCm39) |
I66V |
probably benign |
Het |
| Atrnl1 |
C |
T |
19: 57,741,715 (GRCm39) |
T1158M |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,194,064 (GRCm39) |
I409N |
probably benign |
Het |
| Cnnm2 |
A |
G |
19: 46,860,115 (GRCm39) |
T730A |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,003,459 (GRCm39) |
R788G |
probably damaging |
Het |
| Fbf1 |
T |
C |
11: 116,034,208 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
G |
A |
8: 125,070,081 (GRCm39) |
V499M |
probably benign |
Het |
| Heca |
A |
G |
10: 17,791,162 (GRCm39) |
F298S |
probably damaging |
Het |
| Klhl6 |
A |
T |
16: 19,768,276 (GRCm39) |
V423E |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,343,321 (GRCm39) |
N1951D |
probably damaging |
Het |
| Osbp |
T |
C |
19: 11,967,999 (GRCm39) |
V636A |
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,244,152 (GRCm39) |
T1318A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,891,271 (GRCm39) |
G538D |
probably damaging |
Het |
| Tpbpa |
A |
T |
13: 61,088,047 (GRCm39) |
F46L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,554,123 (GRCm39) |
V30860A |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,809 (GRCm39) |
|
probably null |
Het |
| Utp23 |
C |
A |
15: 51,745,671 (GRCm39) |
A57E |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,321,981 (GRCm39) |
M239V |
probably benign |
Het |
|
| Other mutations in Areg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01391:Areg
|
APN |
5 |
91,288,954 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01929:Areg
|
APN |
5 |
91,292,312 (GRCm39) |
missense |
probably benign |
|
|
IGL02250:Areg
|
APN |
5 |
91,288,967 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1436:Areg
|
UTSW |
5 |
91,287,664 (GRCm39) |
start gained |
probably benign |
|
|
R1674:Areg
|
UTSW |
5 |
91,291,485 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1699:Areg
|
UTSW |
5 |
91,291,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:Areg
|
UTSW |
5 |
91,291,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4240:Areg
|
UTSW |
5 |
91,291,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Areg
|
UTSW |
5 |
91,291,363 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4738:Areg
|
UTSW |
5 |
91,294,583 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5040:Areg
|
UTSW |
5 |
91,292,198 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5305:Areg
|
UTSW |
5 |
91,292,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Areg
|
UTSW |
5 |
91,294,577 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6075:Areg
|
UTSW |
5 |
91,291,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7210:Areg
|
UTSW |
5 |
91,288,764 (GRCm39) |
nonsense |
probably null |
|
|
R8165:Areg
|
UTSW |
5 |
91,291,492 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9054:Areg
|
UTSW |
5 |
91,292,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Areg
|
UTSW |
5 |
91,294,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation