Incidental Mutation 'R4369:Eps8l3'
ID |
325883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps8l3
|
Ensembl Gene |
ENSMUSG00000040600 |
Gene Name |
EPS8-like 3 |
Synonyms |
|
MMRRC Submission |
041116-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4369 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
107784545-107800216 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 107798330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 466
(Y466H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042004
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004134]
[ENSMUST00000037375]
[ENSMUST00000170058]
[ENSMUST00000172247]
[ENSMUST00000167523]
[ENSMUST00000167387]
|
AlphaFold |
Q91WL0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004134
|
SMART Domains |
Protein: ENSMUSP00000004134 Gene: ENSMUSG00000004032
Domain | Start | End | E-Value | Type |
Pfam:GST_N
|
6 |
85 |
4e-23 |
PFAM |
Pfam:GST_C
|
107 |
195 |
1.5e-19 |
PFAM |
Pfam:GST_C_3
|
113 |
193 |
2.9e-8 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037375
AA Change: Y466H
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000042004 Gene: ENSMUSG00000040600 AA Change: Y466H
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: ENSMUST00000131345
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133570
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135512
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137800
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137970
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163675
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154329
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146337
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152663
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198085
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138472
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170058
|
SMART Domains |
Protein: ENSMUSP00000125913 Gene: ENSMUSG00000004032
Domain | Start | End | E-Value | Type |
Pfam:GST_N
|
6 |
55 |
3.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172247
|
SMART Domains |
Protein: ENSMUSP00000129426 Gene: ENSMUSG00000004032
Domain | Start | End | E-Value | Type |
Pfam:GST_N
|
6 |
85 |
2.1e-21 |
PFAM |
Pfam:GST_C
|
107 |
193 |
2.2e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167523
|
SMART Domains |
Protein: ENSMUSP00000127840 Gene: ENSMUSG00000004032
Domain | Start | End | E-Value | Type |
Pfam:GST_N
|
6 |
67 |
6.2e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167387
|
SMART Domains |
Protein: ENSMUSP00000127020 Gene: ENSMUSG00000004032
Domain | Start | End | E-Value | Type |
Pfam:GST_C
|
41 |
129 |
2.1e-19 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
A |
T |
6: 52,156,042 (GRCm39) |
|
probably benign |
Het |
A730018C14Rik |
T |
C |
12: 112,382,048 (GRCm39) |
|
noncoding transcript |
Het |
Abcc1 |
T |
G |
16: 14,278,857 (GRCm39) |
S1056A |
possibly damaging |
Het |
Akr1c19 |
A |
T |
13: 4,283,779 (GRCm39) |
K4* |
probably null |
Het |
Amph |
T |
A |
13: 19,321,870 (GRCm39) |
S516R |
probably benign |
Het |
Apoh |
T |
C |
11: 108,288,205 (GRCm39) |
F108L |
probably damaging |
Het |
Arg2 |
T |
C |
12: 79,196,746 (GRCm39) |
S156P |
probably damaging |
Het |
AU018091 |
A |
T |
7: 3,207,815 (GRCm39) |
L582* |
probably null |
Het |
Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
Bean1 |
T |
A |
8: 104,943,742 (GRCm39) |
V275D |
probably damaging |
Het |
Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
Cpd |
T |
C |
11: 76,688,537 (GRCm39) |
N912D |
possibly damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
Dennd3 |
T |
C |
15: 73,412,658 (GRCm39) |
I440T |
probably damaging |
Het |
Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
Dpep2 |
T |
G |
8: 106,711,707 (GRCm39) |
L573F |
probably benign |
Het |
Ebag9 |
T |
C |
15: 44,491,865 (GRCm39) |
S86P |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,342,391 (GRCm39) |
Y319C |
probably damaging |
Het |
Ercc6 |
A |
G |
14: 32,239,164 (GRCm39) |
E84G |
probably damaging |
Het |
Ffar1 |
A |
G |
7: 30,560,033 (GRCm39) |
I288T |
probably benign |
Het |
Flnb |
C |
T |
14: 7,942,216 (GRCm38) |
T2398I |
probably benign |
Het |
Galnt15 |
T |
C |
14: 31,751,496 (GRCm39) |
F16S |
possibly damaging |
Het |
Golgb1 |
A |
G |
16: 36,737,269 (GRCm39) |
E2172G |
probably damaging |
Het |
Lhx4 |
T |
A |
1: 155,580,560 (GRCm39) |
H161L |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,386,155 (GRCm39) |
N3457S |
possibly damaging |
Het |
Map7d1 |
A |
T |
4: 126,128,866 (GRCm39) |
S436T |
probably damaging |
Het |
Nmral1 |
T |
C |
16: 4,532,394 (GRCm39) |
Y139C |
probably damaging |
Het |
Noc2l |
A |
G |
4: 156,321,853 (GRCm39) |
D84G |
possibly damaging |
Het |
Or2a25 |
T |
A |
6: 42,889,211 (GRCm39) |
Y251* |
probably null |
Het |
Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
Osbpl11 |
T |
C |
16: 33,045,018 (GRCm39) |
S386P |
probably damaging |
Het |
Papss2 |
A |
G |
19: 32,618,791 (GRCm39) |
H283R |
probably damaging |
Het |
Pcdha11 |
T |
C |
18: 37,139,796 (GRCm39) |
V475A |
possibly damaging |
Het |
Pglyrp3 |
T |
C |
3: 91,935,386 (GRCm39) |
I212T |
probably damaging |
Het |
Pkhd1l1 |
C |
T |
15: 44,368,949 (GRCm39) |
R865W |
probably benign |
Het |
Prdm9 |
T |
C |
17: 15,764,708 (GRCm39) |
T691A |
probably benign |
Het |
Rnf121 |
T |
C |
7: 101,673,313 (GRCm39) |
D206G |
probably benign |
Het |
Rnf122 |
T |
A |
8: 31,602,177 (GRCm39) |
M1K |
probably null |
Het |
Shank2 |
T |
C |
7: 143,733,518 (GRCm39) |
S22P |
probably damaging |
Het |
Smg6 |
C |
T |
11: 74,823,269 (GRCm39) |
R175* |
probably null |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Thsd7a |
C |
T |
6: 12,468,907 (GRCm39) |
C557Y |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,464,242 (GRCm39) |
|
probably benign |
Het |
Trgv4 |
T |
C |
13: 19,369,567 (GRCm39) |
Y104H |
probably benign |
Het |
Ttn |
C |
T |
2: 76,594,345 (GRCm39) |
W18788* |
probably null |
Het |
Vmn2r82 |
A |
T |
10: 79,231,914 (GRCm39) |
I638F |
probably benign |
Het |
Zswim6 |
A |
G |
13: 107,863,229 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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 |
PCR Primer
(F):5'- AATCCCAGAGACCATTGGCC -3'
(R):5'- GCTCTGATCCAGAACCTACC -3'
Sequencing Primer
(F):5'- CGGGGGCACAATTCCTATTC -3'
(R):5'- TCTGATCCAGAACCTACCGAGAATC -3'
|
Posted On |
2015-07-06 |