Incidental Mutation 'R2357:Eps8l1'
ID |
247433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps8l1
|
Ensembl Gene |
ENSMUSG00000006154 |
Gene Name |
EPS8-like 1 |
Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
MMRRC Submission |
040339-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2357 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4473354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 179
(S179P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000167298]
[ENSMUST00000171445]
[ENSMUST00000167810]
[ENSMUST00000170635]
[ENSMUST00000169820]
|
AlphaFold |
Q8R5F8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086372
AA Change: S118P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000083559 Gene: ENSMUSG00000006154 AA Change: S118P
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
165 |
2.1e-46 |
PFAM |
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
SH3
|
480 |
535 |
2.62e-11 |
SMART |
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
PDB:1WWU|A
|
632 |
698 |
1e-19 |
PDB |
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146199
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163137
|
SMART Domains |
Protein: ENSMUSP00000131345 Gene: ENSMUSG00000006154
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
100 |
1.9e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163804
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163893
AA Change: S118P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000125840 Gene: ENSMUSG00000006154 AA Change: S118P
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
165 |
2.1e-46 |
PFAM |
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
SH3
|
480 |
535 |
2.62e-11 |
SMART |
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
PDB:1WWU|A
|
632 |
698 |
1e-19 |
PDB |
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167068
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167298
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171445
AA Change: S179P
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000133206 Gene: ENSMUSG00000006154 AA Change: S179P
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
96 |
226 |
5.8e-46 |
PFAM |
low complexity region
|
343 |
365 |
N/A |
INTRINSIC |
SH3
|
541 |
596 |
2.62e-11 |
SMART |
low complexity region
|
615 |
625 |
N/A |
INTRINSIC |
PDB:1WWU|A
|
693 |
759 |
1e-19 |
PDB |
low complexity region
|
762 |
776 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167810
AA Change: S118P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000126720 Gene: ENSMUSG00000006154 AA Change: S118P
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
152 |
5e-44 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170423
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171665
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167599
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170635
|
SMART Domains |
Protein: ENSMUSP00000127999 Gene: ENSMUSG00000006154
Domain | Start | End | E-Value | Type |
PDB:2CY5|A
|
26 |
52 |
3e-13 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169820
|
SMART Domains |
Protein: ENSMUSP00000131773 Gene: ENSMUSG00000006154
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
93 |
1.1e-21 |
PFAM |
|
Meta Mutation Damage Score |
0.1407 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
Validation Efficiency |
97% (66/68) |
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. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
C |
A |
2: 68,569,844 (GRCm39) |
T520K |
possibly damaging |
Het |
Abca13 |
T |
C |
11: 9,247,336 (GRCm39) |
L2361P |
probably damaging |
Het |
Acsl6 |
T |
A |
11: 54,218,106 (GRCm39) |
M248K |
probably damaging |
Het |
Adam11 |
G |
T |
11: 102,665,334 (GRCm39) |
V467L |
probably benign |
Het |
Afap1 |
C |
T |
5: 36,141,618 (GRCm39) |
H501Y |
probably damaging |
Het |
Ankrd28 |
A |
T |
14: 31,486,251 (GRCm39) |
Y22* |
probably null |
Het |
Ccdc124 |
A |
T |
8: 71,321,179 (GRCm39) |
L187Q |
probably damaging |
Het |
Cdc42bpa |
G |
A |
1: 179,894,792 (GRCm39) |
S324N |
possibly damaging |
Het |
Cgnl1 |
T |
A |
9: 71,632,950 (GRCm39) |
K134* |
probably null |
Het |
Cnpy3 |
G |
T |
17: 47,062,909 (GRCm39) |
S47R |
probably damaging |
Het |
Cpne8 |
A |
T |
15: 90,503,877 (GRCm39) |
L96Q |
probably damaging |
Het |
Crisp3 |
A |
T |
17: 40,533,396 (GRCm39) |
Y212N |
probably damaging |
Het |
Cryba1 |
A |
T |
11: 77,613,427 (GRCm39) |
|
probably benign |
Het |
Cyc1 |
A |
G |
15: 76,229,766 (GRCm39) |
M288V |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,990,846 (GRCm39) |
D3296E |
probably benign |
Het |
Dnah8 |
A |
G |
17: 31,093,909 (GRCm39) |
T4668A |
probably benign |
Het |
Dnajb6 |
T |
A |
5: 29,958,638 (GRCm39) |
F113I |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,081,053 (GRCm39) |
I2881T |
probably benign |
Het |
Esco2 |
C |
A |
14: 66,064,000 (GRCm39) |
A395S |
probably benign |
Het |
Evi5l |
T |
C |
8: 4,243,113 (GRCm39) |
|
probably benign |
Het |
Exoc6b |
T |
C |
6: 84,966,321 (GRCm39) |
T218A |
possibly damaging |
Het |
Gde1 |
A |
T |
7: 118,290,814 (GRCm39) |
F170L |
probably benign |
Het |
Ggt5 |
A |
C |
10: 75,445,075 (GRCm39) |
I361L |
probably benign |
Het |
Golga3 |
C |
T |
5: 110,350,514 (GRCm39) |
T683M |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,732,370 (GRCm39) |
Q539R |
probably damaging |
Het |
Grm2 |
A |
G |
9: 106,524,780 (GRCm39) |
V645A |
probably damaging |
Het |
Gtf2h4 |
A |
T |
17: 35,978,891 (GRCm39) |
V408D |
probably damaging |
Het |
Gucy1a2 |
A |
T |
9: 3,797,299 (GRCm39) |
H583L |
probably damaging |
Het |
Hivep2 |
C |
T |
10: 14,019,043 (GRCm39) |
A1938V |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,841,679 (GRCm39) |
Y56H |
probably damaging |
Het |
Il17re |
A |
G |
6: 113,445,431 (GRCm39) |
I381V |
possibly damaging |
Het |
Klrd1 |
T |
A |
6: 129,573,872 (GRCm39) |
*71K |
probably null |
Het |
Kng1 |
A |
T |
16: 22,897,815 (GRCm39) |
Y405F |
possibly damaging |
Het |
Kptn |
G |
T |
7: 15,859,709 (GRCm39) |
C311F |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,821,890 (GRCm39) |
I2982V |
probably benign |
Het |
Mamstr |
G |
T |
7: 45,291,754 (GRCm39) |
D35Y |
probably damaging |
Het |
Mdc1 |
A |
G |
17: 36,158,337 (GRCm39) |
D239G |
probably benign |
Het |
Mindy3 |
T |
G |
2: 12,408,987 (GRCm39) |
|
probably benign |
Het |
Mrpl39 |
A |
T |
16: 84,524,452 (GRCm39) |
H204Q |
probably benign |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Myo5a |
T |
A |
9: 75,108,647 (GRCm39) |
M1476K |
probably damaging |
Het |
Nol4 |
A |
G |
18: 23,172,967 (GRCm39) |
S45P |
probably benign |
Het |
Nol8 |
T |
C |
13: 49,807,980 (GRCm39) |
|
probably null |
Het |
Or4f61 |
A |
G |
2: 111,922,743 (GRCm39) |
I101T |
possibly damaging |
Het |
Or5d18 |
A |
T |
2: 87,865,028 (GRCm39) |
W152R |
probably damaging |
Het |
Or6c207 |
C |
A |
10: 129,104,642 (GRCm39) |
K183N |
probably benign |
Het |
Or8b56 |
T |
C |
9: 38,739,634 (GRCm39) |
S216P |
probably benign |
Het |
Plau |
T |
A |
14: 20,888,683 (GRCm39) |
V100D |
probably damaging |
Het |
Plpp7 |
T |
C |
2: 31,999,654 (GRCm39) |
V6A |
probably benign |
Het |
Prr14 |
T |
C |
7: 127,074,535 (GRCm39) |
S356P |
probably benign |
Het |
Rabl3 |
A |
G |
16: 37,362,293 (GRCm39) |
D44G |
probably null |
Het |
Rasa4 |
T |
C |
5: 136,120,101 (GRCm39) |
V59A |
probably damaging |
Het |
Rbm46 |
A |
T |
3: 82,771,765 (GRCm39) |
D283E |
probably benign |
Het |
Rictor |
A |
T |
15: 6,813,043 (GRCm39) |
N932I |
probably damaging |
Het |
Rpl9-ps6 |
A |
G |
19: 32,443,743 (GRCm39) |
V70A |
probably benign |
Het |
S100a7l2 |
A |
T |
3: 90,995,733 (GRCm39) |
S56R |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,985,631 (GRCm39) |
Y8H |
probably benign |
Het |
Strn |
G |
A |
17: 78,963,028 (GRCm39) |
T745I |
probably damaging |
Het |
Tbx15 |
C |
T |
3: 99,223,672 (GRCm39) |
|
probably null |
Het |
Tbx20 |
T |
A |
9: 24,681,072 (GRCm39) |
D140V |
possibly damaging |
Het |
Ttn |
A |
C |
2: 76,666,923 (GRCm39) |
Y42* |
probably null |
Het |
Usp9y |
G |
A |
Y: 1,394,050 (GRCm39) |
T560I |
possibly damaging |
Het |
Vmn2r111 |
A |
G |
17: 22,778,151 (GRCm39) |
|
probably benign |
Het |
Vps13d |
GG |
GGGGGG |
4: 144,801,547 (GRCm39) |
|
probably null |
Het |
Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
Zfp78 |
G |
A |
7: 6,382,056 (GRCm39) |
G369R |
probably damaging |
Het |
|
Other mutations in Eps8l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01292:Eps8l1
|
APN |
7 |
4,481,919 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01455:Eps8l1
|
APN |
7 |
4,481,922 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01872:Eps8l1
|
APN |
7 |
4,475,295 (GRCm39) |
splice site |
probably benign |
|
IGL02343:Eps8l1
|
APN |
7 |
4,475,123 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02585:Eps8l1
|
APN |
7 |
4,472,212 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02596:Eps8l1
|
APN |
7 |
4,473,871 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02673:Eps8l1
|
APN |
7 |
4,481,731 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03117:Eps8l1
|
APN |
7 |
4,473,886 (GRCm39) |
missense |
probably damaging |
1.00 |
Anamnestic
|
UTSW |
7 |
4,473,873 (GRCm39) |
missense |
probably damaging |
0.98 |
souvenir
|
UTSW |
7 |
4,480,895 (GRCm39) |
missense |
possibly damaging |
0.56 |
PIT4142001:Eps8l1
|
UTSW |
7 |
4,474,414 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4151001:Eps8l1
|
UTSW |
7 |
4,474,414 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4480001:Eps8l1
|
UTSW |
7 |
4,474,414 (GRCm39) |
missense |
probably benign |
0.00 |
R0015:Eps8l1
|
UTSW |
7 |
4,480,556 (GRCm39) |
splice site |
probably benign |
|
R0599:Eps8l1
|
UTSW |
7 |
4,480,956 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0686:Eps8l1
|
UTSW |
7 |
4,480,449 (GRCm39) |
missense |
probably benign |
0.36 |
R0827:Eps8l1
|
UTSW |
7 |
4,480,388 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1015:Eps8l1
|
UTSW |
7 |
4,472,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R1447:Eps8l1
|
UTSW |
7 |
4,477,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R1490:Eps8l1
|
UTSW |
7 |
4,473,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R1527:Eps8l1
|
UTSW |
7 |
4,474,393 (GRCm39) |
missense |
probably benign |
|
R1553:Eps8l1
|
UTSW |
7 |
4,480,448 (GRCm39) |
missense |
probably damaging |
0.98 |
R1763:Eps8l1
|
UTSW |
7 |
4,474,822 (GRCm39) |
missense |
probably benign |
0.43 |
R1863:Eps8l1
|
UTSW |
7 |
4,468,359 (GRCm39) |
utr 5 prime |
probably benign |
|
R3153:Eps8l1
|
UTSW |
7 |
4,474,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R4082:Eps8l1
|
UTSW |
7 |
4,473,797 (GRCm39) |
splice site |
probably null |
|
R4539:Eps8l1
|
UTSW |
7 |
4,481,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:Eps8l1
|
UTSW |
7 |
4,476,944 (GRCm39) |
missense |
probably damaging |
0.99 |
R4930:Eps8l1
|
UTSW |
7 |
4,463,915 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4931:Eps8l1
|
UTSW |
7 |
4,474,240 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5245:Eps8l1
|
UTSW |
7 |
4,473,873 (GRCm39) |
missense |
probably damaging |
0.98 |
R5247:Eps8l1
|
UTSW |
7 |
4,473,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R5305:Eps8l1
|
UTSW |
7 |
4,480,895 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5420:Eps8l1
|
UTSW |
7 |
4,473,160 (GRCm39) |
splice site |
probably null |
|
R5620:Eps8l1
|
UTSW |
7 |
4,463,945 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5705:Eps8l1
|
UTSW |
7 |
4,473,034 (GRCm39) |
missense |
probably benign |
0.00 |
R6063:Eps8l1
|
UTSW |
7 |
4,474,296 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6909:Eps8l1
|
UTSW |
7 |
4,472,899 (GRCm39) |
nonsense |
probably null |
|
R7096:Eps8l1
|
UTSW |
7 |
4,477,190 (GRCm39) |
missense |
probably benign |
0.01 |
R7136:Eps8l1
|
UTSW |
7 |
4,480,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Eps8l1
|
UTSW |
7 |
4,475,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Eps8l1
|
UTSW |
7 |
4,473,437 (GRCm39) |
splice site |
probably null |
|
R7539:Eps8l1
|
UTSW |
7 |
4,473,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R7784:Eps8l1
|
UTSW |
7 |
4,475,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R7833:Eps8l1
|
UTSW |
7 |
4,471,866 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8190:Eps8l1
|
UTSW |
7 |
4,474,297 (GRCm39) |
missense |
probably benign |
0.05 |
R8311:Eps8l1
|
UTSW |
7 |
4,474,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R8549:Eps8l1
|
UTSW |
7 |
4,473,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R8960:Eps8l1
|
UTSW |
7 |
4,481,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R8974:Eps8l1
|
UTSW |
7 |
4,474,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R9003:Eps8l1
|
UTSW |
7 |
4,464,016 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9023:Eps8l1
|
UTSW |
7 |
4,477,042 (GRCm39) |
nonsense |
probably null |
|
R9131:Eps8l1
|
UTSW |
7 |
4,480,573 (GRCm39) |
missense |
|
|
R9517:Eps8l1
|
UTSW |
7 |
4,480,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R9653:Eps8l1
|
UTSW |
7 |
4,481,886 (GRCm39) |
missense |
unknown |
|
X0060:Eps8l1
|
UTSW |
7 |
4,473,850 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGGCAAGCTATCCTTTGAAGC -3'
(R):5'- CTATGTCCCCGTTTGCCAAG -3'
Sequencing Primer
(F):5'- GCAAGCTATCCTTTGAAGCCTAGG -3'
(R):5'- CCGTTTGCCAAGGCCCC -3'
|
Posted On |
2014-11-11 |