Incidental Mutation 'IGL01627:Eps8l3'
ID |
92816 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eps8l3
|
Ensembl Gene |
ENSMUSG00000040600 |
Gene Name |
EPS8-like 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01627
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
107784545-107800216 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107788487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 58
(D58G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042004
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037375]
[ENSMUST00000199990]
|
AlphaFold |
Q91WL0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037375
AA Change: D58G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000042004 Gene: ENSMUSG00000040600 AA Change: D58G
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
28 |
155 |
3.7e-40 |
PFAM |
low complexity region
|
204 |
214 |
N/A |
INTRINSIC |
low complexity region
|
230 |
247 |
N/A |
INTRINSIC |
low complexity region
|
273 |
285 |
N/A |
INTRINSIC |
SH3
|
460 |
515 |
5.19e-15 |
SMART |
PDB:2E8M|A
|
516 |
582 |
3e-7 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198085
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000199990
AA Change: D24G
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143754 Gene: ENSMUSG00000040600 AA Change: D24G
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
1 |
88 |
8.2e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200198
|
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 protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
Casp9 |
T |
C |
4: 141,532,853 (GRCm39) |
|
probably benign |
Het |
Ccdc186 |
G |
A |
19: 56,780,452 (GRCm39) |
T864I |
probably damaging |
Het |
Cgas |
A |
T |
9: 78,349,996 (GRCm39) |
V57E |
possibly damaging |
Het |
Chek1 |
T |
A |
9: 36,635,191 (GRCm39) |
H64L |
probably damaging |
Het |
Chsy3 |
T |
C |
18: 59,309,367 (GRCm39) |
S207P |
probably damaging |
Het |
Clec4n |
A |
G |
6: 123,221,433 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
G |
A |
1: 24,218,689 (GRCm39) |
|
probably null |
Het |
Dgkd |
A |
G |
1: 87,808,150 (GRCm39) |
R73G |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,682,915 (GRCm39) |
T562S |
probably benign |
Het |
Epb42 |
T |
C |
2: 120,856,324 (GRCm39) |
T407A |
probably benign |
Het |
Fuca1 |
A |
T |
4: 135,652,862 (GRCm39) |
N162I |
possibly damaging |
Het |
Gramd1a |
T |
C |
7: 30,839,221 (GRCm39) |
D229G |
probably damaging |
Het |
Grin1 |
A |
G |
2: 25,208,709 (GRCm39) |
S64P |
probably damaging |
Het |
Hgd |
T |
G |
16: 37,442,287 (GRCm39) |
V243G |
probably damaging |
Het |
Il23r |
A |
T |
6: 67,400,412 (GRCm39) |
N639K |
probably benign |
Het |
Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
Mycbpap |
T |
C |
11: 94,405,430 (GRCm39) |
E33G |
probably damaging |
Het |
Npas1 |
C |
T |
7: 16,199,111 (GRCm39) |
G148D |
probably damaging |
Het |
Ntan1 |
C |
T |
16: 13,652,603 (GRCm39) |
T233M |
probably benign |
Het |
Or6c5 |
A |
T |
10: 129,074,138 (GRCm39) |
N40I |
probably damaging |
Het |
Plscr1l1 |
A |
T |
9: 92,229,864 (GRCm39) |
I23F |
probably damaging |
Het |
Pou2f1 |
A |
T |
1: 165,708,002 (GRCm39) |
|
probably benign |
Het |
Rims4 |
T |
C |
2: 163,706,022 (GRCm39) |
Y204C |
probably damaging |
Het |
Selp |
A |
G |
1: 163,971,461 (GRCm39) |
|
probably null |
Het |
Senp7 |
A |
G |
16: 55,992,219 (GRCm39) |
E725G |
probably damaging |
Het |
Snx31 |
A |
T |
15: 36,517,818 (GRCm39) |
F366Y |
probably damaging |
Het |
Spats2l |
A |
G |
1: 57,941,241 (GRCm39) |
|
probably benign |
Het |
Tssk4 |
T |
C |
14: 55,888,010 (GRCm39) |
F69L |
probably damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,335,806 (GRCm39) |
L9P |
probably damaging |
Het |
Vmn2r76 |
A |
T |
7: 85,874,871 (GRCm39) |
I702N |
probably damaging |
Het |
Vps18 |
C |
A |
2: 119,127,672 (GRCm39) |
R832S |
probably benign |
Het |
Xpo6 |
A |
G |
7: 125,748,506 (GRCm39) |
L375P |
probably damaging |
Het |
Zfp462 |
C |
A |
4: 55,008,912 (GRCm39) |
P293T |
possibly damaging |
Het |
Zyg11b |
T |
C |
4: 108,107,985 (GRCm39) |
I474V |
probably benign |
Het |
|
Other mutations in Eps8l3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01694:Eps8l3
|
APN |
3 |
107,799,624 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02748:Eps8l3
|
APN |
3 |
107,786,684 (GRCm39) |
intron |
probably benign |
|
PIT1430001:Eps8l3
|
UTSW |
3 |
107,792,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R0060:Eps8l3
|
UTSW |
3 |
107,786,857 (GRCm39) |
missense |
probably damaging |
0.98 |
R0060:Eps8l3
|
UTSW |
3 |
107,786,857 (GRCm39) |
missense |
probably damaging |
0.98 |
R0517:Eps8l3
|
UTSW |
3 |
107,790,776 (GRCm39) |
missense |
probably benign |
|
R0555:Eps8l3
|
UTSW |
3 |
107,799,661 (GRCm39) |
missense |
probably benign |
|
R0585:Eps8l3
|
UTSW |
3 |
107,788,513 (GRCm39) |
missense |
probably damaging |
0.99 |
R0646:Eps8l3
|
UTSW |
3 |
107,792,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R0741:Eps8l3
|
UTSW |
3 |
107,790,141 (GRCm39) |
missense |
probably benign |
|
R1682:Eps8l3
|
UTSW |
3 |
107,798,622 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1844:Eps8l3
|
UTSW |
3 |
107,786,902 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1900:Eps8l3
|
UTSW |
3 |
107,798,268 (GRCm39) |
missense |
probably benign |
0.16 |
R1937:Eps8l3
|
UTSW |
3 |
107,791,708 (GRCm39) |
missense |
probably benign |
0.02 |
R2010:Eps8l3
|
UTSW |
3 |
107,786,688 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R2973:Eps8l3
|
UTSW |
3 |
107,798,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R4369:Eps8l3
|
UTSW |
3 |
107,798,330 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4803:Eps8l3
|
UTSW |
3 |
107,798,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R4926:Eps8l3
|
UTSW |
3 |
107,798,004 (GRCm39) |
splice site |
probably benign |
|
R5420:Eps8l3
|
UTSW |
3 |
107,791,301 (GRCm39) |
nonsense |
probably null |
|
R5580:Eps8l3
|
UTSW |
3 |
107,788,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5593:Eps8l3
|
UTSW |
3 |
107,798,504 (GRCm39) |
unclassified |
probably benign |
|
R5699:Eps8l3
|
UTSW |
3 |
107,786,895 (GRCm39) |
missense |
probably benign |
0.06 |
R5705:Eps8l3
|
UTSW |
3 |
107,798,580 (GRCm39) |
missense |
probably benign |
0.01 |
R5972:Eps8l3
|
UTSW |
3 |
107,791,763 (GRCm39) |
splice site |
probably null |
|
R6250:Eps8l3
|
UTSW |
3 |
107,797,781 (GRCm39) |
missense |
probably benign |
0.01 |
R7097:Eps8l3
|
UTSW |
3 |
107,791,801 (GRCm39) |
splice site |
probably null |
|
R7967:Eps8l3
|
UTSW |
3 |
107,798,604 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9587:Eps8l3
|
UTSW |
3 |
107,798,683 (GRCm39) |
missense |
probably benign |
0.28 |
Z1177:Eps8l3
|
UTSW |
3 |
107,788,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-12-09 |