Incidental Mutation 'R1863:Eps8l1'
| ID |
204111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| MMRRC Submission |
039886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
C to A
at 4468359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127999
(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
|
| 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 benign
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 |
probably benign
Transcript: ENSMUST00000167298
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167599
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171445
AA Change: H50N
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: H50N
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000171665
|
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.0%
- 20x: 90.8%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,527,746 (GRCm39) |
S1015T |
probably damaging |
Het |
| Adamts10 |
T |
A |
17: 33,770,406 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,711,685 (GRCm39) |
T1097I |
probably damaging |
Het |
| Apeh |
T |
C |
9: 107,969,302 (GRCm39) |
Y274C |
possibly damaging |
Het |
| Apobec3 |
A |
G |
15: 79,782,068 (GRCm39) |
D26G |
possibly damaging |
Het |
| Arg2 |
C |
T |
12: 79,196,794 (GRCm39) |
Q172* |
probably null |
Het |
| Asb18 |
C |
T |
1: 89,942,104 (GRCm39) |
V66I |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,243,132 (GRCm39) |
G430S |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,449,802 (GRCm38) |
S1136P |
possibly damaging |
Het |
| Cadps |
A |
G |
14: 12,505,796 (GRCm38) |
V758A |
probably benign |
Het |
| Calhm3 |
A |
G |
19: 47,140,539 (GRCm39) |
W185R |
probably damaging |
Het |
| Car5b |
T |
C |
X: 162,774,369 (GRCm39) |
D146G |
probably damaging |
Het |
| Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
| Cd300lg |
T |
G |
11: 101,932,430 (GRCm39) |
V5G |
probably damaging |
Het |
| Cd46 |
C |
A |
1: 194,765,931 (GRCm39) |
G145C |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,078,988 (GRCm39) |
S433P |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,008,131 (GRCm39) |
E182K |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,817,400 (GRCm39) |
M304L |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,258,077 (GRCm39) |
I2108V |
probably benign |
Het |
| Cpxm2 |
C |
T |
7: 131,745,392 (GRCm39) |
|
probably null |
Het |
| Dbf4 |
G |
A |
5: 8,447,375 (GRCm39) |
Q612* |
probably null |
Het |
| Dnah11 |
G |
C |
12: 118,027,587 (GRCm39) |
Q1835E |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,767,882 (GRCm39) |
N1140K |
probably benign |
Het |
| Fbxl21 |
A |
T |
13: 56,674,876 (GRCm39) |
I76L |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,014,577 (GRCm39) |
K249N |
possibly damaging |
Het |
| Gm5819 |
A |
G |
18: 8,694,179 (GRCm39) |
T35A |
probably benign |
Het |
| Gm8180 |
T |
C |
14: 44,021,139 (GRCm39) |
E23G |
probably benign |
Het |
| Gorab |
A |
G |
1: 163,231,131 (GRCm39) |
F8L |
probably damaging |
Het |
| Hlf |
A |
G |
11: 90,231,652 (GRCm39) |
L274S |
probably damaging |
Het |
| Il15ra |
T |
A |
2: 11,728,247 (GRCm39) |
S137T |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,004 (GRCm39) |
C936S |
possibly damaging |
Het |
| Lamb2 |
T |
C |
9: 108,358,583 (GRCm39) |
S207P |
probably benign |
Het |
| Lce1a1 |
T |
C |
3: 92,554,118 (GRCm39) |
S119G |
unknown |
Het |
| Lipo3 |
A |
G |
19: 33,762,092 (GRCm39) |
F135S |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,328,708 (GRCm39) |
L1536Q |
probably benign |
Het |
| Lrrc25 |
T |
C |
8: 71,070,596 (GRCm39) |
S126P |
possibly damaging |
Het |
| Mbd3l2 |
T |
C |
9: 18,356,217 (GRCm39) |
S181P |
possibly damaging |
Het |
| Msantd5f6 |
A |
T |
4: 73,320,037 (GRCm39) |
Y247* |
probably null |
Het |
| Mss51 |
C |
T |
14: 20,534,936 (GRCm39) |
R278H |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,505,348 (GRCm39) |
M412I |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,573,611 (GRCm39) |
V780A |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,067 (GRCm39) |
F485L |
probably benign |
Het |
| Notch1 |
T |
C |
2: 26,359,962 (GRCm39) |
Y1251C |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,115,609 (GRCm39) |
N826D |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,849 (GRCm39) |
Y72C |
probably benign |
Het |
| Or4a74 |
A |
T |
2: 89,440,053 (GRCm39) |
L131* |
probably null |
Het |
| Or4c35 |
A |
T |
2: 89,808,754 (GRCm39) |
I211F |
probably benign |
Het |
| Or5p57 |
A |
C |
7: 107,665,932 (GRCm39) |
Y24* |
probably null |
Het |
| Or6c66 |
T |
C |
10: 129,461,217 (GRCm39) |
T238A |
probably damaging |
Het |
| Or8c8 |
T |
G |
9: 38,165,016 (GRCm39) |
M101R |
probably damaging |
Het |
| Or8s16 |
G |
T |
15: 98,211,372 (GRCm39) |
Q20K |
probably benign |
Het |
| Osbpl6 |
G |
A |
2: 76,415,402 (GRCm39) |
R588H |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,164 (GRCm39) |
D318V |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,545,525 (GRCm39) |
E1162V |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,160,361 (GRCm39) |
R845H |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,621,244 (GRCm39) |
R805S |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,905,844 (GRCm39) |
K1484E |
possibly damaging |
Het |
| Pramel7 |
T |
C |
2: 87,321,675 (GRCm39) |
E120G |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,336,420 (GRCm39) |
D60V |
probably damaging |
Het |
| Prpf6 |
T |
A |
2: 181,249,967 (GRCm39) |
D42E |
possibly damaging |
Het |
| Rbm5 |
C |
T |
9: 107,627,718 (GRCm39) |
V408I |
possibly damaging |
Het |
| Rsrp1 |
G |
T |
4: 134,651,388 (GRCm39) |
D51Y |
unknown |
Het |
| Sec22a |
A |
G |
16: 35,168,088 (GRCm39) |
M141T |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,026,094 (GRCm39) |
S417P |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,782,713 (GRCm39) |
M550V |
possibly damaging |
Het |
| Sugt1 |
C |
T |
14: 79,846,434 (GRCm39) |
T157I |
probably damaging |
Het |
| Syne4 |
T |
C |
7: 30,016,308 (GRCm39) |
V168A |
probably benign |
Het |
| Tas2r122 |
A |
T |
6: 132,688,065 (GRCm39) |
L276* |
probably null |
Het |
| Tbc1d14 |
G |
A |
5: 36,665,037 (GRCm39) |
S231F |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,381 (GRCm39) |
I1526F |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,966,139 (GRCm39) |
C505Y |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,909,151 (GRCm39) |
Y61H |
probably damaging |
Het |
| Ticam1 |
G |
A |
17: 56,578,436 (GRCm39) |
H220Y |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,427,755 (GRCm39) |
D500G |
possibly damaging |
Het |
| Tm6sf2 |
T |
A |
8: 70,532,375 (GRCm39) |
L345Q |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,889,848 (GRCm39) |
C114R |
probably damaging |
Het |
| Topors |
G |
T |
4: 40,262,149 (GRCm39) |
C378* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,760,881 (GRCm39) |
G1544R |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,314,410 (GRCm39) |
N190K |
probably benign |
Het |
| Wdr70 |
C |
A |
15: 7,950,054 (GRCm39) |
V447F |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,155,730 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
T |
C |
7: 24,270,000 (GRCm39) |
S474P |
possibly damaging |
Het |
| Zfp658 |
T |
G |
7: 43,223,323 (GRCm39) |
F533V |
possibly damaging |
Het |
| Zfp799 |
G |
A |
17: 33,038,374 (GRCm39) |
H631Y |
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 |
|
|
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 |
|
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'- AATCGGGACTTCAGTGTCTG -3'
(R):5'- TTCTATCAATGCCTAACCACAGG -3'
Sequencing Primer
(F):5'- AGGACAGCTGGGTTCTGGAC -3'
(R):5'- TAACCACAGGCTGGGCAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation