Incidental Mutation 'R6909:Eps8l1'
| ID |
538922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| MMRRC Submission |
045001-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6909 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 4472899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 107
(L107*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000167298]
[ENSMUST00000167810]
[ENSMUST00000169820]
[ENSMUST00000170635]
[ENSMUST00000171445]
|
| AlphaFold |
Q8R5F8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086372
AA Change: L46*
|
| SMART Domains |
Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: L46*
| 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 null
Transcript: ENSMUST00000163137
AA Change: L46*
|
| SMART Domains |
Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154
AA Change: L46*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
100 |
1.9e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163804
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163893
AA Change: L46*
|
| SMART Domains |
Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: L46*
| 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 null
Transcript: ENSMUST00000167810
AA Change: L46*
|
| SMART Domains |
Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154
AA Change: L46*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
152 |
5e-44 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169820
AA Change: L46*
|
| SMART Domains |
Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154
AA Change: L46*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
93 |
1.1e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170635
AA Change: L46*
|
| SMART Domains |
Protein: ENSMUSP00000127999
Gene: ENSMUSG00000006154
AA Change: L46*
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CY5|A
|
26 |
52 |
3e-13 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171445
AA Change: L107*
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: L107*
| 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: 99.1%
- 20x: 97.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,006,323 (GRCm39) |
Q1261K |
probably benign |
Het |
| Acp3 |
T |
C |
9: 104,178,164 (GRCm39) |
Y329C |
probably damaging |
Het |
| Agrn |
G |
T |
4: 156,261,464 (GRCm39) |
H585N |
possibly damaging |
Het |
| Ano1 |
G |
A |
7: 144,209,468 (GRCm39) |
T211M |
probably damaging |
Het |
| Atic |
T |
G |
1: 71,616,005 (GRCm39) |
|
probably null |
Het |
| Catsperd |
T |
A |
17: 56,957,781 (GRCm39) |
S229R |
probably damaging |
Het |
| Ccdc168 |
C |
T |
1: 44,098,935 (GRCm39) |
R721Q |
possibly damaging |
Het |
| Cfap210 |
A |
T |
2: 69,612,192 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,425,815 (GRCm39) |
Y418C |
probably damaging |
Het |
| Cibar1 |
T |
C |
4: 12,168,309 (GRCm39) |
T97A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,760 (GRCm39) |
T2443A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,169,920 (GRCm39) |
E1772V |
probably damaging |
Het |
| Fpr3 |
T |
A |
17: 18,191,429 (GRCm39) |
F233L |
probably benign |
Het |
| Gjc2 |
A |
T |
11: 59,067,918 (GRCm39) |
V188E |
unknown |
Het |
| Gm45861 |
T |
A |
8: 28,017,109 (GRCm39) |
Y690N |
unknown |
Het |
| Gsdma2 |
T |
A |
11: 98,543,383 (GRCm39) |
C224* |
probably null |
Het |
| Gucy2d |
T |
A |
7: 98,116,832 (GRCm39) |
Y881N |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,059,936 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
G |
T |
12: 51,810,945 (GRCm39) |
|
probably null |
Het |
| Ifitm5 |
A |
G |
7: 140,529,172 (GRCm39) |
F146L |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,024,947 (GRCm39) |
F18S |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,241,812 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,569,915 (GRCm39) |
H1109R |
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,960,381 (GRCm39) |
|
probably null |
Het |
| Klra8 |
T |
G |
6: 130,102,123 (GRCm39) |
N104T |
probably benign |
Het |
| Llgl2 |
G |
A |
11: 115,741,625 (GRCm39) |
C585Y |
probably damaging |
Het |
| Lmod2 |
T |
A |
6: 24,604,157 (GRCm39) |
D377E |
probably benign |
Het |
| Lrat |
G |
A |
3: 82,810,961 (GRCm39) |
S20F |
probably damaging |
Het |
| Lrrc43 |
T |
A |
5: 123,638,482 (GRCm39) |
H363Q |
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,960 (GRCm39) |
I3340S |
probably damaging |
Het |
| Magi1 |
C |
A |
6: 93,674,301 (GRCm39) |
G948W |
probably damaging |
Het |
| Map3k4 |
A |
C |
17: 12,489,872 (GRCm39) |
F520V |
probably damaging |
Het |
| Mcm4 |
A |
T |
16: 15,446,561 (GRCm39) |
N607K |
probably damaging |
Het |
| Mta3 |
T |
C |
17: 84,073,980 (GRCm39) |
V216A |
possibly damaging |
Het |
| Ncor1 |
C |
A |
11: 62,220,312 (GRCm39) |
G2131V |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,248,959 (GRCm39) |
H189R |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,372 (GRCm39) |
V256E |
possibly damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,034 (GRCm39) |
S313P |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,622 (GRCm39) |
I126L |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,144,479 (GRCm39) |
L275P |
probably damaging |
Het |
| Ptpn2 |
A |
T |
18: 67,809,041 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,438,856 (GRCm39) |
I1671T |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,481,604 (GRCm39) |
S622T |
probably benign |
Het |
| Sim1 |
C |
T |
10: 50,785,506 (GRCm39) |
R192C |
possibly damaging |
Het |
| Skor2 |
A |
G |
18: 76,948,252 (GRCm39) |
H658R |
possibly damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,400,655 (GRCm39) |
S2P |
possibly damaging |
Het |
| Slc37a4 |
A |
T |
9: 44,311,331 (GRCm39) |
K207N |
possibly damaging |
Het |
| Syne2 |
G |
T |
12: 76,110,969 (GRCm39) |
V5768L |
probably benign |
Het |
| Tdpoz3 |
T |
A |
3: 93,733,772 (GRCm39) |
V149E |
probably damaging |
Het |
| Tekt5 |
T |
C |
16: 10,176,165 (GRCm39) |
N460S |
probably damaging |
Het |
| Tk2 |
G |
T |
8: 104,963,442 (GRCm39) |
Y142* |
probably null |
Het |
| Tkfc |
T |
A |
19: 10,573,630 (GRCm39) |
Q236L |
probably benign |
Het |
| Tln2 |
G |
A |
9: 67,299,814 (GRCm39) |
T148I |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,778,021 (GRCm39) |
D20G |
probably damaging |
Het |
| Tspan14 |
A |
C |
14: 40,635,398 (GRCm39) |
V166G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,712,065 (GRCm39) |
|
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
| Vmn2r117 |
C |
G |
17: 23,698,479 (GRCm39) |
Q31H |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,519,861 (GRCm39) |
T406A |
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 |
|
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'- AATCTAATCAGTGCTGGCCAC -3'
(R):5'- GATTCACCCTCAGATCTCAGC -3'
Sequencing Primer
(F):5'- TGGCCACTGAAGGAGCTG -3'
(R):5'- CTCAGATCTCAGCCCCATTTC -3'
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| Posted On |
2018-11-06 |
Incidental Mutation