Incidental Mutation 'R7539:Eps8l1'
| ID |
583777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| MMRRC Submission |
045611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4473036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 92
(S92P)
|
| 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: S92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: S92P
| 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 damaging
Transcript: ENSMUST00000163137
AA Change: S92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154
AA Change: S92P
| 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: S92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: S92P
| 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 damaging
Transcript: ENSMUST00000167810
AA Change: S92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154
AA Change: S92P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
152 |
5e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169820
AA Change: S92P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154
AA Change: S92P
| 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: S153P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: S153P
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (63/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Abcf3 |
T |
C |
16: 20,371,382 (GRCm39) |
|
probably null |
Het |
| Agbl1 |
T |
C |
7: 76,075,677 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
C |
A |
14: 49,311,014 (GRCm39) |
P28Q |
probably damaging |
Het |
| Bet1l |
T |
C |
7: 140,434,457 (GRCm39) |
D83G |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,956,691 (GRCm39) |
S3571P |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,975,203 (GRCm39) |
M2037K |
possibly damaging |
Het |
| Ccdc80 |
A |
T |
16: 44,915,445 (GRCm39) |
E67V |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,746,654 (GRCm39) |
M133V |
probably benign |
Het |
| Ckmt2 |
C |
A |
13: 92,008,063 (GRCm39) |
D224Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,230,728 (GRCm39) |
I1002V |
probably benign |
Het |
| Crb1 |
T |
G |
1: 139,175,967 (GRCm39) |
K672T |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,119 (GRCm39) |
S4515P |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,818,848 (GRCm39) |
S1545P |
probably damaging |
Het |
| Dop1a |
T |
G |
9: 86,403,626 (GRCm39) |
S145A |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,268,464 (GRCm39) |
D103G |
possibly damaging |
Het |
| Fech |
T |
A |
18: 64,616,565 (GRCm39) |
|
probably null |
Het |
| Folh1 |
T |
A |
7: 86,375,117 (GRCm39) |
E623V |
probably benign |
Het |
| Galnt5 |
T |
C |
2: 57,925,242 (GRCm39) |
L841P |
probably damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm10577 |
C |
T |
4: 100,877,893 (GRCm39) |
V1I |
unknown |
Het |
| Grip1 |
T |
A |
10: 119,890,776 (GRCm39) |
H938Q |
probably benign |
Het |
| Gucy2g |
G |
A |
19: 55,191,586 (GRCm39) |
A955V |
probably damaging |
Het |
| Hpd |
G |
C |
5: 123,316,255 (GRCm39) |
Y165* |
probably null |
Het |
| Iqsec1 |
C |
A |
6: 90,639,873 (GRCm39) |
R955L |
probably benign |
Het |
| Masp1 |
A |
T |
16: 23,289,128 (GRCm39) |
H557Q |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,770 (GRCm39) |
T20M |
|
Het |
| Myo16 |
T |
C |
8: 10,411,095 (GRCm39) |
|
probably null |
Het |
| Nfkb2 |
T |
C |
19: 46,296,662 (GRCm39) |
F273L |
possibly damaging |
Het |
| Nherf2 |
G |
T |
17: 24,860,873 (GRCm39) |
A223D |
probably damaging |
Het |
| Or11l3 |
A |
T |
11: 58,516,782 (GRCm39) |
I29N |
probably damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,221 (GRCm39) |
R302G |
probably benign |
Het |
| Or2a56 |
T |
C |
6: 42,933,037 (GRCm39) |
C202R |
possibly damaging |
Het |
| Or4k49 |
T |
C |
2: 111,494,778 (GRCm39) |
V69A |
possibly damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,977,701 (GRCm39) |
S3G |
probably benign |
Het |
| Or52e3 |
T |
C |
7: 102,869,273 (GRCm39) |
V116A |
possibly damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,933 (GRCm39) |
Q153* |
probably null |
Het |
| Or6c2 |
A |
T |
10: 129,362,974 (GRCm39) |
K293* |
probably null |
Het |
| Or6c69 |
T |
C |
10: 129,747,932 (GRCm39) |
T72A |
probably damaging |
Het |
| Or7e174 |
A |
T |
9: 20,012,915 (GRCm39) |
M287L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,873,212 (GRCm39) |
I1152N |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,711,167 (GRCm39) |
T1352A |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,331 (GRCm39) |
N1669S |
probably damaging |
Het |
| Pinx1 |
A |
T |
14: 64,156,655 (GRCm39) |
Q194L |
probably benign |
Het |
| Podxl2 |
A |
C |
6: 88,826,311 (GRCm39) |
S268A |
probably benign |
Het |
| Polr2c |
C |
A |
8: 95,597,407 (GRCm39) |
H363N |
unknown |
Het |
| Prlr |
C |
T |
15: 10,329,109 (GRCm39) |
T528I |
probably benign |
Het |
| Rab37 |
A |
C |
11: 115,051,487 (GRCm39) |
Q198P |
probably benign |
Het |
| Rrm2b |
T |
A |
15: 37,937,595 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
T |
C |
12: 104,096,970 (GRCm39) |
S84P |
possibly damaging |
Het |
| Stat4 |
A |
T |
1: 52,110,868 (GRCm39) |
|
probably null |
Het |
| Them6 |
T |
C |
15: 74,595,349 (GRCm39) |
I185T |
probably damaging |
Het |
| Tmco4 |
T |
A |
4: 138,749,010 (GRCm39) |
M316K |
probably benign |
Het |
| Tmtc4 |
G |
T |
14: 123,215,701 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
T |
3: 154,667,668 (GRCm39) |
N248K |
probably benign |
Het |
| Trim43a |
T |
A |
9: 88,465,096 (GRCm39) |
L141Q |
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,627,607 (GRCm39) |
V953M |
probably damaging |
Het |
| Vmn2r118 |
T |
A |
17: 55,899,853 (GRCm39) |
T684S |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,197 (GRCm39) |
I441N |
unknown |
Het |
| Wfikkn2 |
T |
C |
11: 94,133,185 (GRCm39) |
D64G |
probably damaging |
Het |
| Zfp128 |
C |
A |
7: 12,624,479 (GRCm39) |
Y282* |
probably null |
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 |
|
|
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'- AGCAACAGCTTGGCATAGC -3'
(R):5'- TAGAGCAGTGTCCAGGACTTG -3'
Sequencing Primer
(F):5'- ATAGCCTGGGACTCAGCTAC -3'
(R):5'- ACTTGGGGCAAGGCAACC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation