Incidental Mutation 'R1447:Eps8l1'
| ID |
160698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| MMRRC Submission |
039502-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1447 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4477055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 508
(E508G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000164987]
[ENSMUST00000171445]
[ENSMUST00000167810]
[ENSMUST00000170635]
[ENSMUST00000169820]
[ENSMUST00000167298]
|
| AlphaFold |
Q8R5F8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086372
AA Change: E447G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: E447G
| 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: E447G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: E447G
| 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 |
probably benign
Transcript: ENSMUST00000164987
|
| SMART Domains |
Protein: ENSMUSP00000130665
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167068
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171445
AA Change: E508G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: E508G
| 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: ENSMUST00000167599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168924
|
| 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 |
|
| 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: ENSMUST00000167298
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 84.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
T |
15: 11,263,447 (GRCm39) |
D603V |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,984,446 (GRCm39) |
E1910V |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Amotl1 |
A |
G |
9: 14,467,038 (GRCm39) |
V704A |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,509,691 (GRCm39) |
V892E |
probably damaging |
Het |
| Aoc1 |
G |
A |
6: 48,883,176 (GRCm39) |
V351I |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,734,924 (GRCm39) |
V412A |
possibly damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,851,477 (GRCm39) |
I906N |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,019,735 (GRCm39) |
L2048P |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,457 (GRCm39) |
V304A |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,969,854 (GRCm39) |
D1176G |
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,952,735 (GRCm39) |
G66R |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,456,243 (GRCm39) |
E360G |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 15,975,306 (GRCm39) |
G2968* |
probably null |
Het |
| Cyp2j7 |
A |
T |
4: 96,083,530 (GRCm39) |
F473L |
possibly damaging |
Het |
| Ddx24 |
T |
C |
12: 103,390,566 (GRCm39) |
K142E |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,028,855 (GRCm39) |
M625K |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,999,308 (GRCm39) |
Y944N |
possibly damaging |
Het |
| Eef1akmt1 |
T |
A |
14: 57,803,441 (GRCm39) |
K38* |
probably null |
Het |
| Enpp2 |
C |
T |
15: 54,782,994 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
A |
T |
11: 17,896,625 (GRCm39) |
D497E |
possibly damaging |
Het |
| Fam181b |
C |
T |
7: 92,729,368 (GRCm39) |
A47V |
probably damaging |
Het |
| Fubp3 |
T |
C |
2: 31,490,559 (GRCm39) |
V221A |
probably damaging |
Het |
| Golga2 |
T |
C |
2: 32,187,788 (GRCm39) |
V191A |
possibly damaging |
Het |
| Haus5 |
G |
T |
7: 30,361,216 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,249,798 (GRCm39) |
L2247P |
probably damaging |
Het |
| Lama5 |
A |
C |
2: 179,827,671 (GRCm39) |
I2197S |
probably damaging |
Het |
| Mapre3 |
C |
T |
5: 31,019,151 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
C |
A |
4: 116,169,210 (GRCm39) |
M733I |
probably benign |
Het |
| Mphosph10 |
A |
T |
7: 64,030,698 (GRCm39) |
F514I |
probably damaging |
Het |
| Mterf3 |
A |
G |
13: 67,065,103 (GRCm39) |
L266P |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,192,120 (GRCm39) |
D1114G |
probably benign |
Het |
| Or1ak2 |
T |
G |
2: 36,827,788 (GRCm39) |
V219G |
possibly damaging |
Het |
| Or1e21 |
A |
G |
11: 73,344,700 (GRCm39) |
F113L |
probably benign |
Het |
| Phf24 |
G |
T |
4: 42,938,232 (GRCm39) |
E119* |
probably null |
Het |
| Pik3r5 |
G |
A |
11: 68,385,003 (GRCm39) |
R636Q |
probably benign |
Het |
| Plaat3 |
G |
A |
19: 7,556,598 (GRCm39) |
R133H |
probably benign |
Het |
| Rida |
T |
A |
15: 34,488,757 (GRCm39) |
Q45L |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 51,974,954 (GRCm39) |
T1544A |
possibly damaging |
Het |
| Rpl7 |
T |
A |
1: 16,172,821 (GRCm39) |
Y166F |
probably benign |
Het |
| Rps6ka5 |
A |
G |
12: 100,544,084 (GRCm39) |
I338T |
probably benign |
Het |
| Scn3a |
A |
T |
2: 65,300,324 (GRCm39) |
N1347K |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,854,739 (GRCm39) |
D238G |
probably benign |
Het |
| Sh3rf2 |
T |
A |
18: 42,234,736 (GRCm39) |
I173N |
probably benign |
Het |
| Smarcc2 |
T |
C |
10: 128,305,660 (GRCm39) |
|
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,670,070 (GRCm39) |
S1531P |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,904,496 (GRCm39) |
N567D |
probably benign |
Het |
| Tmprss13 |
C |
A |
9: 45,239,878 (GRCm39) |
P62Q |
unknown |
Het |
| Tmprss7 |
T |
C |
16: 45,501,033 (GRCm39) |
Q256R |
probably benign |
Het |
| Tssc4 |
A |
G |
7: 142,623,892 (GRCm39) |
T67A |
probably benign |
Het |
| Tssk5 |
G |
A |
15: 76,256,304 (GRCm39) |
Q372* |
probably null |
Het |
| Usp47 |
G |
T |
7: 111,673,775 (GRCm39) |
|
probably null |
Het |
| Utp15 |
A |
G |
13: 98,389,386 (GRCm39) |
I304T |
possibly damaging |
Het |
| Vmn1r35 |
A |
C |
6: 66,655,890 (GRCm39) |
V93G |
probably benign |
Het |
| Zfhx3 |
A |
C |
8: 109,675,076 (GRCm39) |
Q2042P |
probably benign |
Het |
| Zfp532 |
C |
A |
18: 65,758,061 (GRCm39) |
R665S |
probably damaging |
Het |
| Zfp976 |
G |
T |
7: 42,262,023 (GRCm39) |
P605T |
possibly damaging |
Het |
| Zfpl1 |
A |
G |
19: 6,132,649 (GRCm39) |
V125A |
possibly 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 |
|
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 |
|
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'- TGCTTAGGGCATACACTGCTCTTCC -3'
(R):5'- TTTGCAGCGGACACTCACCCATTG -3'
Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- CCATTGACCGCGACCTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation