Incidental Mutation 'R2973:Eps8l3'
| ID |
255268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l3
|
| Ensembl Gene |
ENSMUSG00000040600 |
| Gene Name |
EPS8-like 3 |
| Synonyms |
|
| MMRRC Submission |
040526-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2973 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107784545-107800216 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107798644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 510
(I510T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004134]
[ENSMUST00000037375]
[ENSMUST00000167387]
[ENSMUST00000167523]
[ENSMUST00000170058]
[ENSMUST00000172247]
[ENSMUST00000169365]
|
| 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 |
probably damaging
Transcript: ENSMUST00000037375
AA Change: I510T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042004
Gene: ENSMUSG00000040600
AA Change: I510T
| 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: ENSMUST00000154329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146337
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152663
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198085
|
| 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 |
|
| 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: 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: ENSMUST00000169365
|
| SMART Domains |
Protein: ENSMUSP00000128306
Gene: ENSMUSG00000004032
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_C
|
41 |
129 |
2.1e-19 |
PFAM |
|
| Meta Mutation Damage Score |
0.2114 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Angptl7 |
T |
A |
4: 148,584,671 (GRCm39) |
K26* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,734,931 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,255,132 (GRCm39) |
F187S |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,251,442 (GRCm39) |
Y530H |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cst9 |
G |
T |
2: 148,677,145 (GRCm39) |
|
probably null |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,373,957 (GRCm39) |
S461P |
probably benign |
Het |
| Dhx36 |
T |
A |
3: 62,402,916 (GRCm39) |
N279Y |
probably benign |
Het |
| Dhx36 |
C |
G |
3: 62,402,919 (GRCm39) |
G278R |
possibly damaging |
Het |
| Gab2 |
A |
G |
7: 96,872,759 (GRCm39) |
E54G |
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Hesx1 |
A |
G |
14: 26,722,599 (GRCm39) |
|
probably benign |
Het |
| Il5ra |
G |
A |
6: 106,718,196 (GRCm39) |
P86L |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,248,871 (GRCm39) |
K177R |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,216,347 (GRCm39) |
|
probably benign |
Het |
| Lrrc42 |
A |
T |
4: 107,096,311 (GRCm39) |
D40E |
probably damaging |
Het |
| Mefv |
G |
A |
16: 3,533,558 (GRCm39) |
R238* |
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,884,338 (GRCm39) |
M400K |
probably damaging |
Het |
| Or12j2 |
T |
G |
7: 139,916,300 (GRCm39) |
F175C |
probably damaging |
Het |
| Or5ac22 |
A |
C |
16: 59,135,767 (GRCm39) |
M1R |
probably null |
Het |
| Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,464,144 (GRCm39) |
K35E |
probably benign |
Het |
| Ppef2 |
T |
C |
5: 92,386,953 (GRCm39) |
E328G |
probably benign |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Rtn1 |
C |
A |
12: 72,270,163 (GRCm39) |
R116L |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,776,086 (GRCm39) |
H31R |
probably benign |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Tm9sf1 |
T |
A |
14: 55,878,571 (GRCm39) |
T274S |
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,632,661 (GRCm39) |
I12385S |
probably damaging |
Het |
| Ube2e2 |
T |
C |
14: 18,630,321 (GRCm38) |
D137G |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vcp |
T |
A |
4: 42,996,315 (GRCm39) |
I16F |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
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 |
|
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 |
PCR Primer
(F):5'- GGTGGGAAGTACAATTAGCCTG -3'
(R):5'- CACCGAGGAAGCATGCAATG -3'
Sequencing Primer
(F):5'- ACAATTAGCCTGGAGTGGGTG -3'
(R):5'- CACCGAGGAAGCATGCAATGATATTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation