Incidental Mutation 'R6063:Eps8l1'
| ID |
483909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4474296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 256
(S256T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000167298]
[ENSMUST00000171445]
[ENSMUST00000169820]
[ENSMUST00000167810]
[ENSMUST00000170635]
|
| AlphaFold |
Q8R5F8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086372
AA Change: S195T
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: S195T
| 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: S195T
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: S195T
| 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 |
possibly damaging
Transcript: ENSMUST00000171445
AA Change: S256T
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: S256T
| 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 |
noncoding transcript
Transcript: ENSMUST00000171665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170423
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167810
|
| SMART Domains |
Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
152 |
5e-44 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| 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. 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
A |
17: 24,483,318 (GRCm39) |
R1713C |
unknown |
Het |
| Ano6 |
C |
T |
15: 95,846,298 (GRCm39) |
T512I |
probably damaging |
Het |
| Ap3s1 |
T |
C |
18: 46,887,505 (GRCm39) |
V46A |
probably benign |
Het |
| Art2a |
C |
A |
7: 101,204,413 (GRCm39) |
V42F |
probably damaging |
Het |
| Asph |
C |
T |
4: 9,531,960 (GRCm39) |
V386M |
probably benign |
Het |
| B4galnt4 |
T |
A |
7: 140,644,643 (GRCm39) |
D179E |
probably benign |
Het |
| Bbx |
T |
C |
16: 50,071,730 (GRCm39) |
I232V |
probably benign |
Het |
| C1ql2 |
A |
G |
1: 120,269,321 (GRCm39) |
I159V |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,612,496 (GRCm39) |
V223A |
possibly damaging |
Het |
| Cd2ap |
A |
T |
17: 43,136,802 (GRCm39) |
L277I |
probably benign |
Het |
| Cfap44 |
G |
A |
16: 44,250,255 (GRCm39) |
E778K |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,240,063 (GRCm39) |
D1626E |
probably benign |
Het |
| Crocc |
C |
T |
4: 140,769,032 (GRCm39) |
G505S |
probably benign |
Het |
| Crocc |
T |
A |
4: 140,773,851 (GRCm39) |
Q72L |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,834,156 (GRCm39) |
|
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,316,310 (GRCm39) |
V133A |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,697,338 (GRCm39) |
M671K |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,353,336 (GRCm39) |
L630F |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,807,306 (GRCm39) |
S1667P |
probably damaging |
Het |
| Greb1l |
A |
C |
18: 10,557,340 (GRCm39) |
K1780T |
probably damaging |
Het |
| H2-Q10 |
C |
T |
17: 35,781,026 (GRCm39) |
T8M |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,324,725 (GRCm39) |
T4215S |
probably benign |
Het |
| I0C0044D17Rik |
G |
A |
4: 98,708,576 (GRCm39) |
|
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,579,223 (GRCm39) |
F541L |
probably benign |
Het |
| Igkv6-17 |
C |
T |
6: 70,348,764 (GRCm39) |
A45V |
probably damaging |
Het |
| Intu |
G |
A |
3: 40,608,524 (GRCm39) |
A161T |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,233,141 (GRCm39) |
Y73C |
probably damaging |
Het |
| Lrit1 |
T |
C |
14: 36,776,945 (GRCm39) |
F22L |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,174,156 (GRCm39) |
C699* |
probably null |
Het |
| Lrrc8d |
A |
G |
5: 105,959,992 (GRCm39) |
D134G |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,645 (GRCm39) |
D1692G |
unknown |
Het |
| Met |
C |
T |
6: 17,491,967 (GRCm39) |
S243F |
probably damaging |
Het |
| Mlph |
C |
A |
1: 90,855,882 (GRCm39) |
H96Q |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,372,582 (GRCm39) |
V4088D |
probably damaging |
Het |
| Nampt |
T |
A |
12: 32,898,658 (GRCm39) |
S425T |
probably damaging |
Het |
| Nts |
G |
A |
10: 102,320,856 (GRCm39) |
H78Y |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,745,151 (GRCm39) |
E467G |
possibly damaging |
Het |
| Olfml2a |
C |
A |
2: 38,841,155 (GRCm39) |
D230E |
probably benign |
Het |
| Or4b13 |
C |
A |
2: 90,082,771 (GRCm39) |
C187F |
probably benign |
Het |
| Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,432,045 (GRCm39) |
|
probably null |
Het |
| Pde5a |
C |
A |
3: 122,618,574 (GRCm39) |
T629K |
probably benign |
Het |
| Plcb3 |
G |
T |
19: 6,940,202 (GRCm39) |
R462S |
possibly damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,574,156 (GRCm39) |
M469K |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,386 (GRCm39) |
K318* |
probably null |
Het |
| Prkd1 |
T |
C |
12: 50,388,826 (GRCm39) |
R906G |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,576,361 (GRCm39) |
T300S |
possibly damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,743 (GRCm39) |
Y247C |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,028,781 (GRCm39) |
E735G |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,017,470 (GRCm39) |
P153S |
possibly damaging |
Het |
| Samd4b |
T |
A |
7: 28,123,056 (GRCm39) |
M1L |
possibly damaging |
Het |
| Septin12 |
T |
C |
16: 4,810,127 (GRCm39) |
E136G |
probably damaging |
Het |
| Shpk |
A |
T |
11: 73,104,270 (GRCm39) |
K140* |
probably null |
Het |
| Sidt1 |
G |
T |
16: 44,079,829 (GRCm39) |
F608L |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,347,842 (GRCm39) |
Y1300H |
probably benign |
Het |
| Slc22a28 |
G |
A |
19: 8,094,386 (GRCm39) |
P212S |
probably benign |
Het |
| Slc22a5 |
A |
T |
11: 53,758,359 (GRCm39) |
F480L |
possibly damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc3a1 |
C |
T |
17: 85,335,951 (GRCm39) |
P31L |
probably benign |
Het |
| Slc4a7 |
T |
C |
14: 14,793,964 (GRCm38) |
V1074A |
possibly damaging |
Het |
| Snx2 |
C |
T |
18: 53,342,697 (GRCm39) |
Q254* |
probably null |
Het |
| Sox30 |
G |
A |
11: 45,882,769 (GRCm39) |
V600I |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Tdpoz9 |
A |
G |
3: 93,957,408 (GRCm39) |
F7L |
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 46,005,486 (GRCm39) |
T431A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,054,544 (GRCm39) |
|
probably null |
Het |
| Tigar |
A |
G |
6: 127,068,164 (GRCm39) |
S85P |
probably benign |
Het |
| Tnr |
A |
C |
1: 159,740,254 (GRCm39) |
M1143L |
probably benign |
Het |
| Trio |
G |
T |
15: 27,891,465 (GRCm39) |
Q429K |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,985 (GRCm39) |
I452M |
probably benign |
Het |
| Uroc1 |
A |
T |
6: 90,324,910 (GRCm39) |
E461V |
probably benign |
Het |
| Vax1 |
C |
A |
19: 59,157,036 (GRCm39) |
R99L |
unknown |
Het |
| Xab2 |
A |
T |
8: 3,663,051 (GRCm39) |
I510N |
possibly damaging |
Het |
| Zbtb34 |
A |
T |
2: 33,301,842 (GRCm39) |
I233K |
possibly damaging |
Het |
| Zbtb47 |
A |
G |
9: 121,592,598 (GRCm39) |
E306G |
probably benign |
Het |
| Zfp27 |
A |
G |
7: 29,593,727 (GRCm39) |
F746S |
probably damaging |
Het |
| Zfp719 |
C |
T |
7: 43,239,050 (GRCm39) |
Q213* |
probably null |
Het |
| Zswim6 |
T |
C |
13: 107,865,112 (GRCm39) |
|
noncoding transcript |
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 |
|
|
R2357:Eps8l1
|
UTSW |
7 |
4,473,354 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
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'- GTTTCTCATTATGAAATGCCCAGC -3'
(R):5'- TGCCACGTTCCTGAATCTCG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation