Incidental Mutation 'R4082:Eps8l1'
| ID |
316934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| MMRRC Submission |
041624-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4082 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 4473797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000167298]
[ENSMUST00000167810]
[ENSMUST00000167810]
[ENSMUST00000171445]
[ENSMUST00000171445]
[ENSMUST00000170635]
[ENSMUST00000169820]
|
| AlphaFold |
Q8R5F8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086372
|
| SMART Domains |
Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
| 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 null
Transcript: ENSMUST00000163893
|
| SMART Domains |
Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
| 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 null
Transcript: ENSMUST00000167298
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167810
|
| SMART Domains |
Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
152 |
5e-44 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167810
|
| SMART Domains |
Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
152 |
5e-44 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171445
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
| 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 null
Transcript: ENSMUST00000171445
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
| 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 null
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 null
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
G |
19: 24,043,366 (GRCm39) |
|
noncoding transcript |
Het |
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
| Abca12 |
G |
T |
1: 71,306,622 (GRCm39) |
T2028K |
possibly damaging |
Het |
| Abt1 |
T |
C |
13: 23,606,316 (GRCm39) |
T213A |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,014,117 (GRCm39) |
Y173S |
probably damaging |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Akr1d1 |
G |
A |
6: 37,534,424 (GRCm39) |
V193M |
probably damaging |
Het |
| Cars1 |
C |
T |
7: 143,123,234 (GRCm39) |
E461K |
probably damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,943,290 (GRCm39) |
L800P |
probably damaging |
Het |
| Ccl22 |
A |
G |
8: 95,473,536 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cdc123 |
G |
A |
2: 5,815,566 (GRCm39) |
|
probably benign |
Het |
| Cldn11 |
A |
T |
3: 31,217,278 (GRCm39) |
I149F |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,300,429 (GRCm39) |
Y986H |
unknown |
Het |
| Col6a3 |
G |
A |
1: 90,749,605 (GRCm39) |
L410F |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,761,282 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,433,374 (GRCm39) |
|
probably benign |
Het |
| Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,350,991 (GRCm39) |
I321T |
possibly damaging |
Het |
| Fasl |
C |
T |
1: 161,609,420 (GRCm39) |
V189M |
probably damaging |
Het |
| Fbxw5 |
T |
C |
2: 25,394,643 (GRCm39) |
|
probably null |
Het |
| Flg2 |
A |
C |
3: 93,110,828 (GRCm39) |
E952A |
unknown |
Het |
| Gpd1l |
A |
T |
9: 114,746,146 (GRCm39) |
L90Q |
probably damaging |
Het |
| Grik4 |
G |
T |
9: 42,509,180 (GRCm39) |
F414L |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klhl3 |
C |
T |
13: 58,166,611 (GRCm39) |
G407S |
probably null |
Het |
| Lmbr1 |
T |
C |
5: 29,463,753 (GRCm39) |
E157G |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
| Mrpl20 |
A |
T |
4: 155,892,970 (GRCm39) |
D67V |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,378,022 (GRCm39) |
T1346A |
possibly damaging |
Het |
| Naip5 |
A |
T |
13: 100,382,338 (GRCm39) |
C124S |
probably damaging |
Het |
| Or10ag2 |
T |
A |
2: 87,248,801 (GRCm39) |
Y134* |
probably null |
Het |
| Or13n4 |
T |
C |
7: 106,423,245 (GRCm39) |
T163A |
possibly damaging |
Het |
| Or52u1 |
T |
A |
7: 104,237,830 (GRCm39) |
V290D |
probably damaging |
Het |
| Osbp |
A |
G |
19: 11,956,030 (GRCm39) |
D385G |
probably benign |
Het |
| Paip1 |
G |
A |
13: 119,593,540 (GRCm39) |
D460N |
probably damaging |
Het |
| Pde3b |
T |
C |
7: 114,093,823 (GRCm39) |
S356P |
probably benign |
Het |
| Pms2 |
A |
G |
5: 143,867,837 (GRCm39) |
M814V |
probably damaging |
Het |
| Polg |
C |
A |
7: 79,114,576 (GRCm39) |
K128N |
probably damaging |
Het |
| Polk |
G |
T |
13: 96,620,181 (GRCm39) |
T694K |
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,417,491 (GRCm39) |
K342R |
unknown |
Het |
| Pou5f2 |
T |
C |
13: 78,174,024 (GRCm39) |
L322P |
probably damaging |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,705,382 (GRCm39) |
D183G |
probably damaging |
Het |
| Pygb |
G |
A |
2: 150,668,391 (GRCm39) |
|
probably null |
Het |
| Ralgds |
C |
T |
2: 28,442,283 (GRCm39) |
|
probably benign |
Het |
| Ret |
T |
C |
6: 118,130,927 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Rspo2 |
A |
C |
15: 42,885,933 (GRCm39) |
V241G |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,759,469 (GRCm39) |
|
probably benign |
Het |
| Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Sufu |
A |
G |
19: 46,413,541 (GRCm39) |
M141V |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,057,635 (GRCm39) |
V831D |
possibly damaging |
Het |
| Tc2n |
T |
C |
12: 101,617,414 (GRCm39) |
E335G |
possibly damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmcc1 |
T |
A |
6: 116,020,441 (GRCm39) |
H118L |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Vmn1r209 |
A |
C |
13: 22,989,785 (GRCm39) |
L302V |
probably null |
Het |
| Vmn2r117 |
C |
T |
17: 23,679,080 (GRCm39) |
V715I |
probably benign |
Het |
| Vopp1 |
A |
T |
6: 57,766,964 (GRCm39) |
Y37* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,863,973 (GRCm39) |
T528A |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,302,662 (GRCm39) |
D1774G |
probably benign |
Het |
| Zfp955b |
T |
A |
17: 33,521,129 (GRCm39) |
D199E |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,734,475 (GRCm39) |
S525G |
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 |
|
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 |
|
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'- CCATGACTGAATGTGACGATGG -3'
(R):5'- AGGCTGTTCGTACCAAGCTC -3'
Sequencing Primer
(F):5'- GATGCAGAACAAAGGCTTTGAG -3'
(R):5'- AGCGGTAGTTCTGCAGA -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation