Incidental Mutation 'R8311:Eps8l1'
| ID |
641380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| MMRRC Submission |
067796-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4474817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 266
(D266G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000167298]
[ENSMUST00000167810]
[ENSMUST00000169820]
[ENSMUST00000170635]
[ENSMUST00000171445]
|
| AlphaFold |
Q8R5F8 |
| PDB Structure |
Crystal structure of phosphotyrosine binding (PTB) domain of epidermal growth factor receptor pathway substrate-8 (EPS8) related protein 1 from Mus musculus (form-1 crystal) [X-RAY DIFFRACTION]
Crystal structure of phosphotyrosine binding (PTB) domain of epidermal growth factor receptor pathway substrate-8 (EPS8) related protein 1 from Mus musculus (form-2 crystal) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086372
AA Change: D266G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: D266G
| 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: 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: D266G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: D266G
| 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 |
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: 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: ENSMUST00000170635
|
| SMART Domains |
Protein: ENSMUSP00000127999
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CY5|A
|
26 |
52 |
3e-13 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171445
AA Change: D327G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: D327G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,184,815 (GRCm39) |
|
probably benign |
Het |
| 4930407I10Rik |
T |
C |
15: 81,947,440 (GRCm39) |
W446R |
possibly damaging |
Het |
| Aldh1l2 |
T |
A |
10: 83,326,479 (GRCm39) |
E912D |
probably damaging |
Het |
| Apol9a |
T |
C |
15: 77,289,220 (GRCm39) |
D49G |
possibly damaging |
Het |
| Bnc2 |
A |
T |
4: 84,194,582 (GRCm39) |
D847E |
possibly damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,437,114 (GRCm39) |
N100S |
possibly damaging |
Het |
| Copb2 |
G |
T |
9: 98,450,072 (GRCm39) |
K10N |
possibly damaging |
Het |
| Cyp4a14 |
A |
G |
4: 115,348,275 (GRCm39) |
S401P |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,916,914 (GRCm39) |
Q277L |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,354,217 (GRCm39) |
S410T |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,880,644 (GRCm39) |
N2651S |
probably benign |
Het |
| Efhb |
A |
G |
17: 53,720,489 (GRCm39) |
|
probably null |
Het |
| Eif4ebp1 |
T |
A |
8: 27,765,124 (GRCm39) |
F113L |
probably damaging |
Het |
| Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
| Eng |
A |
G |
2: 32,569,005 (GRCm39) |
T511A |
probably benign |
Het |
| Fam120a |
T |
C |
13: 49,087,433 (GRCm39) |
H309R |
possibly damaging |
Het |
| Gga3 |
A |
T |
11: 115,477,834 (GRCm39) |
S585T |
probably benign |
Het |
| Gm12117 |
T |
C |
11: 33,226,126 (GRCm39) |
Q70R |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,373,701 (GRCm39) |
H212R |
probably benign |
Het |
| Hmgb1 |
A |
G |
5: 148,987,427 (GRCm39) |
F41L |
possibly damaging |
Het |
| Iqcm |
T |
A |
8: 76,480,118 (GRCm39) |
|
probably benign |
Het |
| Itgav |
T |
A |
2: 83,596,121 (GRCm39) |
I214N |
probably damaging |
Het |
| Kcna1 |
T |
A |
6: 126,619,255 (GRCm39) |
H355L |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,394,247 (GRCm39) |
V393I |
probably benign |
Het |
| Mak16 |
T |
C |
8: 31,658,697 (GRCm39) |
D4G |
probably damaging |
Het |
| Metap2 |
C |
T |
10: 93,697,384 (GRCm39) |
R432H |
possibly damaging |
Het |
| Nlrc4 |
G |
A |
17: 74,753,540 (GRCm39) |
T281M |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,688,870 (GRCm39) |
Q561L |
probably damaging |
Het |
| Or10ak7 |
A |
C |
4: 118,791,347 (GRCm39) |
S231A |
probably damaging |
Het |
| Or10w3 |
A |
G |
19: 13,704,035 (GRCm39) |
T137A |
possibly damaging |
Het |
| Pira1 |
T |
C |
7: 3,739,482 (GRCm39) |
D462G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,628,282 (GRCm39) |
I1304V |
probably null |
Het |
| Ppp4r2 |
T |
C |
6: 100,843,343 (GRCm39) |
S354P |
probably benign |
Het |
| Ptchd3 |
A |
G |
11: 121,727,299 (GRCm39) |
H391R |
possibly damaging |
Het |
| Rchy1 |
T |
C |
5: 92,099,762 (GRCm39) |
D192G |
probably damaging |
Het |
| Rmdn1 |
T |
C |
4: 19,575,329 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
A |
1: 4,418,572 (GRCm39) |
I847L |
probably benign |
Het |
| Rtn1 |
T |
C |
12: 72,350,838 (GRCm39) |
E457G |
probably damaging |
Het |
| Serpind1 |
G |
A |
16: 17,160,730 (GRCm39) |
S420N |
possibly damaging |
Het |
| Sirpa |
T |
C |
2: 129,458,143 (GRCm39) |
V253A |
probably damaging |
Het |
| Snapc4 |
A |
T |
2: 26,268,546 (GRCm39) |
F38L |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,973,169 (GRCm39) |
V834A |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,156,969 (GRCm39) |
F2321S |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,142,075 (GRCm39) |
I641F |
probably damaging |
Het |
| Tmem216 |
A |
T |
19: 10,529,191 (GRCm39) |
F65Y |
probably benign |
Het |
| Tmem37 |
C |
T |
1: 119,995,982 (GRCm39) |
V32M |
possibly damaging |
Het |
| Tmprss11c |
T |
G |
5: 86,383,412 (GRCm39) |
Q338P |
probably damaging |
Het |
| Tonsl |
C |
T |
15: 76,517,463 (GRCm39) |
S752N |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,518 (GRCm39) |
K224E |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,887,100 (GRCm39) |
V3229D |
probably benign |
Het |
| Vwa5b2 |
C |
T |
16: 20,409,972 (GRCm39) |
R21W |
probably damaging |
Het |
| Wdr37 |
T |
C |
13: 8,903,609 (GRCm39) |
R165G |
unknown |
Het |
| Yars2 |
T |
C |
16: 16,125,147 (GRCm39) |
F388L |
probably benign |
Het |
| Ykt6 |
T |
A |
11: 5,912,366 (GRCm39) |
D106E |
probably benign |
Het |
| Zc3h12a |
A |
C |
4: 125,020,788 (GRCm39) |
S18R |
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 |
|
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 |
|
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'- TAGCTGACAAGATGCTGGGTC -3'
(R):5'- TAGGAAGTCAGACCTGGCTG -3'
Sequencing Primer
(F):5'- ATGGGAGTTAATTCTAGAAGTATGGC -3'
(R):5'- CTGGCTGGTGGTGGGAGAC -3'
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| Posted On |
2020-07-28 |
Incidental Mutation