Incidental Mutation 'R1490:Eps8l1'
| ID |
163646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| MMRRC Submission |
039542-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1490 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4473888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 232
(R232G)
|
| 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 damaging
Transcript: ENSMUST00000086372
AA Change: R171G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: R171G
| 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 damaging
Transcript: ENSMUST00000163893
AA Change: R171G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: R171G
| 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 damaging
Transcript: ENSMUST00000171445
AA Change: R232G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: R232G
| 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: ENSMUST00000170423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167599
|
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,356,234 (GRCm39) |
T52I |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 98,114,952 (GRCm39) |
R633W |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,162,389 (GRCm39) |
N507S |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,991,193 (GRCm39) |
S1520P |
probably benign |
Het |
| Cacul1 |
G |
T |
19: 60,568,837 (GRCm39) |
A107E |
probably damaging |
Het |
| Cd74 |
A |
G |
18: 60,944,438 (GRCm39) |
D216G |
probably damaging |
Het |
| Cdh16 |
A |
T |
8: 105,348,702 (GRCm39) |
W109R |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,586,775 (GRCm39) |
V100I |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,897,071 (GRCm39) |
D679G |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,826,563 (GRCm39) |
D46G |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,011,430 (GRCm39) |
Y95H |
probably benign |
Het |
| Dmrta2 |
T |
C |
4: 109,837,072 (GRCm39) |
S5P |
unknown |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,746 (GRCm39) |
Y426C |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,383,225 (GRCm39) |
S87G |
probably benign |
Het |
| Gart |
A |
T |
16: 91,421,232 (GRCm39) |
V812D |
probably damaging |
Het |
| Gm10153 |
C |
T |
7: 141,743,879 (GRCm39) |
C83Y |
unknown |
Het |
| Gpd2 |
T |
C |
2: 57,245,487 (GRCm39) |
V394A |
probably damaging |
Het |
| Hpcal1 |
A |
T |
12: 17,836,225 (GRCm39) |
E18D |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,844,530 (GRCm39) |
D156G |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,753,595 (GRCm39) |
K510E |
probably benign |
Het |
| Ms4a19 |
A |
G |
19: 11,118,902 (GRCm39) |
I69T |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,503,051 (GRCm39) |
R1035Q |
probably damaging |
Het |
| Myh6 |
T |
A |
14: 55,200,175 (GRCm39) |
K235* |
probably null |
Het |
| Nedd1 |
A |
G |
10: 92,536,660 (GRCm39) |
F214S |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,197 (GRCm39) |
V237A |
possibly damaging |
Het |
| Or1o3 |
A |
G |
17: 37,573,733 (GRCm39) |
M274T |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,672 (GRCm39) |
M28T |
probably benign |
Het |
| Or52e15 |
A |
G |
7: 104,645,700 (GRCm39) |
I137T |
possibly damaging |
Het |
| Pfkfb2 |
A |
C |
1: 130,625,626 (GRCm39) |
|
probably null |
Het |
| Pfkfb4 |
T |
C |
9: 108,856,688 (GRCm39) |
L398P |
probably damaging |
Het |
| Pfn3 |
T |
G |
13: 55,562,732 (GRCm39) |
D83A |
probably damaging |
Het |
| Pi4ka |
C |
A |
16: 17,204,132 (GRCm39) |
W54L |
probably damaging |
Het |
| Ppp3r1 |
A |
G |
11: 17,148,275 (GRCm39) |
D161G |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,372,230 (GRCm39) |
S1757P |
probably benign |
Het |
| Samd7 |
A |
G |
3: 30,812,502 (GRCm39) |
E314G |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,088,736 (GRCm39) |
I217T |
probably benign |
Het |
| Slc22a1 |
A |
T |
17: 12,881,780 (GRCm39) |
|
probably null |
Het |
| Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,721,104 (GRCm39) |
H905Q |
probably benign |
Het |
| Thada |
G |
A |
17: 84,754,029 (GRCm39) |
T314I |
possibly damaging |
Het |
| Tirap |
ACTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTG |
9: 35,100,362 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
C |
14: 50,600,633 (GRCm39) |
H873P |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,611 (GRCm39) |
T135S |
possibly damaging |
Het |
| Tmem116 |
T |
C |
5: 121,633,174 (GRCm39) |
S183P |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,550 (GRCm39) |
I572K |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,092,038 (GRCm39) |
T523I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,916,687 (GRCm39) |
Q364* |
probably null |
Het |
| Vmn1r61 |
T |
C |
7: 5,614,242 (GRCm39) |
Q24R |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,874,495 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
G |
A |
13: 67,405,573 (GRCm39) |
P286S |
probably damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,091 (GRCm39) |
C373S |
probably benign |
Het |
| Zfp768 |
T |
A |
7: 126,942,803 (GRCm39) |
I442F |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,263,853 (GRCm39) |
R284G |
probably benign |
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 |
|
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 |
|
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'- GACCATGACTGAATGTGACGATGGG -3'
(R):5'- TTGTCTGGGAGGTACAGGTAAGACC -3'
Sequencing Primer
(F):5'- aggcaggcaggcagAAC -3'
(R):5'- CAACACTCTAGGCTGTTCGT -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation