Incidental Mutation 'R0741:Eps8l3'
ID |
70676 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps8l3
|
Ensembl Gene |
ENSMUSG00000040600 |
Gene Name |
EPS8-like 3 |
Synonyms |
|
MMRRC Submission |
038922-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0741 (G1)
|
Quality Score |
162 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
107784545-107800216 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107790141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 141
(T141A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042004
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037375]
[ENSMUST00000199990]
|
AlphaFold |
Q91WL0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037375
AA Change: T141A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042004 Gene: ENSMUSG00000040600 AA Change: T141A
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 benign
Transcript: ENSMUST00000199990
|
SMART Domains |
Protein: ENSMUSP00000143754 Gene: ENSMUSG00000040600
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
1 |
88 |
8.2e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200198
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
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 |
Ano7 |
T |
A |
1: 93,329,309 (GRCm39) |
I701N |
probably damaging |
Het |
Asb7 |
A |
T |
7: 66,309,882 (GRCm39) |
N111K |
probably benign |
Het |
Atp10a |
T |
A |
7: 58,478,337 (GRCm39) |
L1460Q |
possibly damaging |
Het |
Auh |
T |
C |
13: 53,083,638 (GRCm39) |
T14A |
possibly damaging |
Het |
Caskin2 |
A |
G |
11: 115,695,626 (GRCm39) |
V245A |
probably damaging |
Het |
Cryba4 |
G |
A |
5: 112,394,554 (GRCm39) |
R192C |
probably damaging |
Het |
Ctsq |
T |
A |
13: 61,184,019 (GRCm39) |
D301V |
probably damaging |
Het |
Dpyd |
A |
G |
3: 118,468,154 (GRCm39) |
E56G |
possibly damaging |
Het |
Dtd2 |
T |
C |
12: 52,046,455 (GRCm39) |
K128R |
probably benign |
Het |
Evc |
A |
T |
5: 37,483,739 (GRCm39) |
I187N |
possibly damaging |
Het |
Fam120a |
A |
G |
13: 49,045,416 (GRCm39) |
S807P |
possibly damaging |
Het |
Fbxw22 |
G |
A |
9: 109,211,287 (GRCm39) |
S338L |
probably benign |
Het |
Gcnt4 |
G |
T |
13: 97,082,940 (GRCm39) |
E79* |
probably null |
Het |
Get4 |
G |
A |
5: 139,249,384 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
A |
G |
3: 103,654,128 (GRCm39) |
V954A |
probably benign |
Het |
Ifi206 |
C |
T |
1: 173,301,315 (GRCm39) |
V788M |
probably benign |
Het |
Iqgap1 |
A |
G |
7: 80,370,735 (GRCm39) |
S1545P |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,087,482 (GRCm39) |
T933A |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Magee2 |
A |
G |
X: 103,899,472 (GRCm39) |
L393P |
probably damaging |
Het |
Mtrr |
T |
C |
13: 68,727,658 (GRCm39) |
|
probably null |
Het |
Nes |
A |
G |
3: 87,886,274 (GRCm39) |
E1467G |
probably damaging |
Het |
Nol3 |
C |
G |
8: 106,005,756 (GRCm39) |
A50G |
probably damaging |
Het |
Nr2f2 |
G |
A |
7: 70,007,745 (GRCm39) |
R113C |
probably damaging |
Het |
Obscn |
CCACACACACACAC |
CCACACACACAC |
11: 58,954,279 (GRCm39) |
|
probably null |
Het |
Or10a3m |
T |
A |
7: 108,312,811 (GRCm39) |
C84S |
probably benign |
Het |
Pnkd |
T |
A |
1: 74,391,018 (GRCm39) |
S337R |
possibly damaging |
Het |
Ptprh |
A |
G |
7: 4,557,172 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
A |
C |
12: 55,723,366 (GRCm39) |
V1767G |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Skap1 |
A |
C |
11: 96,383,759 (GRCm39) |
|
probably benign |
Het |
Trip12 |
A |
G |
1: 84,722,902 (GRCm39) |
S1250P |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,712,236 (GRCm39) |
H50R |
possibly damaging |
Het |
Usp25 |
C |
A |
16: 76,868,596 (GRCm39) |
D332E |
possibly damaging |
Het |
Vgll1 |
A |
T |
X: 56,141,644 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Eps8l3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01627:Eps8l3
|
APN |
3 |
107,788,487 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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 |
|
|
Predicted Primers |
|
Posted On |
2013-09-30 |