Incidental Mutation 'R5620:Eps8l1'
| ID |
439784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| MMRRC Submission |
043160-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5620 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4463945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 23
(I23N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000167298]
[ENSMUST00000171445]
[ENSMUST00000169820]
[ENSMUST00000170635]
[ENSMUST00000167810]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000163804
AA Change: I23N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000167298
AA Change: I23N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167599
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171445
AA Change: I23N
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: I23N
| 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: ENSMUST00000171665
|
| 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: ENSMUST00000170635
|
| SMART Domains |
Protein: ENSMUSP00000127999
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2CY5|A
|
26 |
52 |
3e-13 |
PDB |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
C |
15: 102,246,826 (GRCm39) |
S511A |
probably benign |
Het |
| Abca3 |
C |
T |
17: 24,615,444 (GRCm39) |
T845I |
probably benign |
Het |
| Acaa2 |
G |
A |
18: 74,938,945 (GRCm39) |
A377T |
possibly damaging |
Het |
| Adcy4 |
C |
A |
14: 56,009,824 (GRCm39) |
E743* |
probably null |
Het |
| Ahnak |
T |
A |
19: 8,990,458 (GRCm39) |
L3914* |
probably null |
Het |
| Akap1 |
G |
T |
11: 88,736,343 (GRCm39) |
N106K |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,270,387 (GRCm39) |
T1500I |
probably benign |
Het |
| Atp6v0a2 |
T |
A |
5: 124,783,909 (GRCm39) |
Y252* |
probably null |
Het |
| C4bp |
A |
G |
1: 130,581,090 (GRCm39) |
S140P |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,739,047 (GRCm39) |
I384M |
probably damaging |
Het |
| Cdk12 |
A |
G |
11: 98,101,809 (GRCm39) |
I556V |
unknown |
Het |
| Chmp2a |
T |
C |
7: 12,766,237 (GRCm39) |
S174G |
probably benign |
Het |
| Clybl |
T |
A |
14: 122,548,755 (GRCm39) |
N52K |
probably damaging |
Het |
| Cyp4a29 |
C |
A |
4: 115,108,088 (GRCm39) |
S303R |
probably benign |
Het |
| Dab2 |
T |
A |
15: 6,447,796 (GRCm39) |
D59E |
probably damaging |
Het |
| Dag1 |
C |
A |
9: 108,086,214 (GRCm39) |
R309L |
probably damaging |
Het |
| Dync1i2 |
T |
A |
2: 71,088,483 (GRCm39) |
M505K |
probably benign |
Het |
| Eif2b1 |
A |
T |
5: 124,717,075 (GRCm39) |
M1K |
probably null |
Het |
| Epc1 |
A |
G |
18: 6,448,917 (GRCm39) |
S577P |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,535,037 (GRCm39) |
E164G |
probably damaging |
Het |
| Firrm |
C |
A |
1: 163,789,613 (GRCm39) |
G641* |
probably null |
Het |
| Gadl1 |
A |
T |
9: 115,766,230 (GRCm39) |
M1L |
probably benign |
Het |
| Gda |
T |
C |
19: 21,374,908 (GRCm39) |
D336G |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,527,645 (GRCm39) |
V413D |
probably damaging |
Het |
| Hnrnpll |
G |
T |
17: 80,346,051 (GRCm39) |
N403K |
probably damaging |
Het |
| Ifit1 |
T |
A |
19: 34,625,238 (GRCm39) |
F125I |
probably damaging |
Het |
| Igkv5-43 |
C |
T |
6: 69,800,892 (GRCm39) |
V2I |
probably benign |
Het |
| Kat5 |
A |
C |
19: 5,659,507 (GRCm39) |
Y44* |
probably null |
Het |
| Klc2 |
A |
G |
19: 5,162,884 (GRCm39) |
V205A |
probably damaging |
Het |
| Klrb1c |
T |
A |
6: 128,761,706 (GRCm39) |
T133S |
possibly damaging |
Het |
| Krt20 |
A |
G |
11: 99,326,283 (GRCm39) |
L157P |
probably damaging |
Het |
| Krt26 |
G |
T |
11: 99,228,597 (GRCm39) |
T45N |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 26,866,876 (GRCm39) |
D2873N |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,020,532 (GRCm39) |
C114S |
possibly damaging |
Het |
| Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,608,616 (GRCm39) |
R21S |
probably damaging |
Het |
| Mrpl35 |
C |
T |
6: 71,794,720 (GRCm39) |
V83I |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,069,254 (GRCm39) |
R498G |
probably benign |
Het |
| Nup153 |
C |
A |
13: 46,837,482 (GRCm39) |
E1247* |
probably null |
Het |
| Or2t48 |
A |
T |
11: 58,420,557 (GRCm39) |
M85K |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,257 (GRCm39) |
N79S |
probably benign |
Het |
| Pcgf6 |
C |
T |
19: 47,036,406 (GRCm39) |
G221D |
probably damaging |
Het |
| Phf11b |
C |
T |
14: 59,558,953 (GRCm39) |
D260N |
probably benign |
Het |
| Pla2g5 |
T |
C |
4: 138,531,921 (GRCm39) |
M28V |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,395,927 (GRCm39) |
S1934P |
possibly damaging |
Het |
| Prr5 |
A |
G |
15: 84,640,570 (GRCm39) |
S140G |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,501,098 (GRCm39) |
D1235G |
probably damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,455,031 (GRCm39) |
S254P |
probably damaging |
Het |
| Rassf8 |
C |
T |
6: 145,765,907 (GRCm39) |
|
probably benign |
Het |
| Rgs20 |
T |
A |
1: 4,982,666 (GRCm39) |
E167D |
probably damaging |
Het |
| Rmnd1 |
G |
T |
10: 4,372,159 (GRCm39) |
A180E |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,486,992 (GRCm39) |
D541G |
probably benign |
Het |
| Rpl9 |
G |
T |
5: 65,546,468 (GRCm39) |
Q140K |
probably benign |
Het |
| Sfmbt1 |
T |
G |
14: 30,506,148 (GRCm39) |
|
probably null |
Het |
| Shank1 |
C |
A |
7: 43,962,160 (GRCm39) |
D10E |
unknown |
Het |
| Srrm4 |
G |
T |
5: 116,587,672 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
T |
A |
14: 73,832,836 (GRCm39) |
V447E |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,331,055 (GRCm39) |
D78G |
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,138,224 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
C |
A |
19: 40,597,361 (GRCm39) |
E230* |
probably null |
Het |
| Thsd7b |
G |
A |
1: 130,090,673 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
A |
G |
1: 180,797,811 (GRCm39) |
M621V |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,936,504 (GRCm39) |
K2756* |
probably null |
Het |
| Trpm8 |
G |
A |
1: 88,287,373 (GRCm39) |
|
probably null |
Het |
| Txndc16 |
C |
A |
14: 45,373,335 (GRCm39) |
V764F |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,492,020 (GRCm39) |
D3103V |
possibly damaging |
Het |
| Usp22 |
A |
T |
11: 61,049,206 (GRCm39) |
I381N |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,013,464 (GRCm39) |
M1810K |
probably benign |
Het |
| Zfp64 |
T |
A |
2: 168,741,888 (GRCm39) |
M347L |
possibly damaging |
Het |
| Zfp69 |
T |
C |
4: 120,787,719 (GRCm39) |
D532G |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-11-08 |
Incidental Mutation