Incidental Mutation 'IGL01455:Eps8l1'
ID |
84761 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01455
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to A
at 4481922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013886]
[ENSMUST00000086372]
[ENSMUST00000124248]
[ENSMUST00000171445]
[ENSMUST00000163893]
[ENSMUST00000164987]
[ENSMUST00000163137]
|
AlphaFold |
Q8R5F8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000013886
|
SMART Domains |
Protein: ENSMUSP00000013886 Gene: ENSMUSG00000019254
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
low complexity region
|
74 |
97 |
N/A |
INTRINSIC |
ANK
|
104 |
133 |
3.71e-4 |
SMART |
ANK
|
137 |
166 |
3.43e-8 |
SMART |
low complexity region
|
205 |
210 |
N/A |
INTRINSIC |
ANK
|
230 |
259 |
7.95e-4 |
SMART |
ANK
|
263 |
292 |
2.41e-3 |
SMART |
low complexity region
|
369 |
385 |
N/A |
INTRINSIC |
low complexity region
|
401 |
413 |
N/A |
INTRINSIC |
internal_repeat_2
|
450 |
508 |
2.86e-5 |
PROSPERO |
internal_repeat_2
|
545 |
599 |
2.86e-5 |
PROSPERO |
low complexity region
|
631 |
649 |
N/A |
INTRINSIC |
Pfam:PRKG1_interact
|
682 |
782 |
9.7e-33 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000086372
AA Change: I716N
|
SMART Domains |
Protein: ENSMUSP00000083559 Gene: ENSMUSG00000006154 AA Change: I716N
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: ENSMUST00000124248
|
SMART Domains |
Protein: ENSMUSP00000120029 Gene: ENSMUSG00000019254
Domain | Start | End | E-Value | Type |
ANK
|
25 |
54 |
3.71e-4 |
SMART |
ANK
|
58 |
87 |
3.43e-8 |
SMART |
low complexity region
|
126 |
131 |
N/A |
INTRINSIC |
ANK
|
151 |
180 |
7.95e-4 |
SMART |
ANK
|
184 |
213 |
2.41e-3 |
SMART |
low complexity region
|
290 |
306 |
N/A |
INTRINSIC |
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
PDB:2KJY|A
|
445 |
498 |
3e-11 |
PDB |
low complexity region
|
553 |
571 |
N/A |
INTRINSIC |
coiled coil region
|
604 |
704 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127329
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134738
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153101
|
Predicted Effect |
unknown
Transcript: ENSMUST00000171445
AA Change: I777N
|
SMART Domains |
Protein: ENSMUSP00000133206 Gene: ENSMUSG00000006154 AA Change: I777N
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 |
unknown
Transcript: ENSMUST00000163893
AA Change: I716N
|
SMART Domains |
Protein: ENSMUSP00000125840 Gene: ENSMUSG00000006154 AA Change: I716N
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: ENSMUST00000168924
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167068
|
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 |
probably benign
Transcript: ENSMUST00000163137
|
SMART Domains |
Protein: ENSMUSP00000131345 Gene: ENSMUSG00000006154
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
100 |
1.9e-22 |
PFAM |
|
Coding Region Coverage |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,214,131 (GRCm39) |
D87G |
possibly damaging |
Het |
Adgra3 |
G |
A |
5: 50,144,899 (GRCm39) |
R565* |
probably null |
Het |
Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
Arb2a |
A |
T |
13: 78,050,766 (GRCm39) |
|
probably benign |
Het |
B3gnt2 |
A |
T |
11: 22,787,042 (GRCm39) |
W49R |
probably damaging |
Het |
Ccdc112 |
T |
A |
18: 46,426,511 (GRCm39) |
K137N |
possibly damaging |
Het |
Ccdc117 |
G |
T |
11: 5,484,297 (GRCm39) |
T181K |
possibly damaging |
Het |
Cfh |
T |
C |
1: 140,033,277 (GRCm39) |
K756E |
possibly damaging |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Cyp2c29 |
T |
A |
19: 39,317,561 (GRCm39) |
I349K |
possibly damaging |
Het |
Dcaf15 |
T |
C |
8: 84,825,219 (GRCm39) |
T434A |
probably benign |
Het |
Entpd5 |
T |
C |
12: 84,441,451 (GRCm39) |
I106V |
probably benign |
Het |
Erbin |
G |
T |
13: 103,995,895 (GRCm39) |
P269Q |
probably damaging |
Het |
Fbxw22 |
C |
T |
9: 109,214,062 (GRCm39) |
M251I |
probably benign |
Het |
Fgd4 |
T |
A |
16: 16,308,354 (GRCm39) |
T9S |
probably benign |
Het |
Haus8 |
T |
C |
8: 71,705,875 (GRCm39) |
I270V |
probably benign |
Het |
Herc4 |
T |
A |
10: 63,121,922 (GRCm39) |
|
probably null |
Het |
Hspg2 |
G |
A |
4: 137,281,128 (GRCm39) |
V3367M |
probably damaging |
Het |
Htr1f |
A |
T |
16: 64,746,385 (GRCm39) |
F302L |
probably damaging |
Het |
Inpp5f |
T |
C |
7: 128,279,773 (GRCm39) |
C458R |
probably damaging |
Het |
Klhl18 |
T |
C |
9: 110,261,511 (GRCm39) |
E411G |
probably damaging |
Het |
Krt20 |
A |
T |
11: 99,322,769 (GRCm39) |
F289I |
probably benign |
Het |
Mical1 |
T |
C |
10: 41,355,065 (GRCm39) |
|
probably null |
Het |
Nav1 |
T |
C |
1: 135,397,373 (GRCm39) |
D932G |
probably benign |
Het |
Nme4 |
A |
T |
17: 26,311,036 (GRCm39) |
D176E |
probably benign |
Het |
Nox4 |
C |
T |
7: 87,025,424 (GRCm39) |
S517L |
possibly damaging |
Het |
Or1j13 |
A |
T |
2: 36,369,368 (GRCm39) |
L258H |
probably damaging |
Het |
Pate8 |
T |
A |
9: 36,492,659 (GRCm39) |
H82L |
probably benign |
Het |
Pip5k1a |
T |
C |
3: 94,975,471 (GRCm39) |
D333G |
probably benign |
Het |
Polb |
T |
C |
8: 23,143,088 (GRCm39) |
Y36C |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,030,877 (GRCm39) |
I953T |
possibly damaging |
Het |
Sptb |
A |
T |
12: 76,659,686 (GRCm39) |
D1071E |
probably damaging |
Het |
Stxbp3-ps |
T |
C |
19: 9,535,371 (GRCm39) |
|
noncoding transcript |
Het |
Tmcc3 |
A |
T |
10: 94,422,617 (GRCm39) |
I356F |
probably damaging |
Het |
Tmem262 |
G |
T |
19: 6,130,189 (GRCm39) |
R6L |
probably damaging |
Het |
Tnks |
C |
A |
8: 35,408,054 (GRCm39) |
V225L |
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 |
|
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 |
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 |
|
Posted On |
2013-11-11 |