Incidental Mutation 'R5705:Eps8l1'
ID |
451920 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps8l1
|
Ensembl Gene |
ENSMUSG00000006154 |
Gene Name |
EPS8-like 1 |
Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
MMRRC Submission |
043330-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5705 (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 C
at 4473034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 91
(V91A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131345
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000167810]
[ENSMUST00000169820]
[ENSMUST00000171445]
[ENSMUST00000167298]
[ENSMUST00000170635]
|
AlphaFold |
Q8R5F8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086372
AA Change: V91A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083559 Gene: ENSMUSG00000006154 AA Change: V91A
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
AA Change: V91A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000131345 Gene: ENSMUSG00000006154 AA Change: V91A
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
AA Change: V91A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125840 Gene: ENSMUSG00000006154 AA Change: V91A
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: ENSMUST00000167068
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167599
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167810
AA Change: V91A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126720 Gene: ENSMUSG00000006154 AA Change: V91A
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
152 |
5e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169820
AA Change: V91A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131773 Gene: ENSMUSG00000006154 AA Change: V91A
Domain | Start | End | E-Value | Type |
Pfam:PTB
|
35 |
93 |
1.1e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171445
AA Change: V152A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133206 Gene: ENSMUSG00000006154 AA Change: V152A
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: ENSMUST00000167298
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,851,276 (GRCm39) |
V2163A |
probably benign |
Het |
Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,342,587 (GRCm39) |
I519V |
probably benign |
Het |
Arhgap4 |
G |
A |
X: 72,950,423 (GRCm39) |
R43W |
probably damaging |
Het |
Aurkb |
T |
A |
11: 68,939,641 (GRCm39) |
L213I |
possibly damaging |
Het |
Bod1l |
T |
A |
5: 41,974,345 (GRCm39) |
Q2323L |
probably benign |
Het |
Calhm5 |
A |
T |
10: 33,971,989 (GRCm39) |
C149S |
probably damaging |
Het |
Ccdc17 |
C |
T |
4: 116,454,066 (GRCm39) |
T28I |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,871,086 (GRCm39) |
E630G |
probably damaging |
Het |
Cnih4 |
A |
G |
1: 180,981,300 (GRCm39) |
I24V |
probably benign |
Het |
Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
Ctsr |
A |
G |
13: 61,309,078 (GRCm39) |
F226L |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,638,640 (GRCm39) |
N49D |
probably benign |
Het |
Defb23 |
C |
T |
2: 152,301,204 (GRCm39) |
A123T |
probably benign |
Het |
Dtx2 |
C |
A |
5: 136,039,149 (GRCm39) |
D69E |
probably damaging |
Het |
Eps8l3 |
C |
A |
3: 107,798,580 (GRCm39) |
Q489K |
probably benign |
Het |
Esyt3 |
A |
G |
9: 99,200,260 (GRCm39) |
S645P |
probably benign |
Het |
Fam161a |
T |
A |
11: 22,978,869 (GRCm39) |
M472K |
unknown |
Het |
Glp2r |
A |
G |
11: 67,600,565 (GRCm39) |
V428A |
probably benign |
Het |
Gnl1 |
G |
A |
17: 36,292,492 (GRCm39) |
V191I |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,059,319 (GRCm39) |
I234M |
probably benign |
Het |
Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
Hs3st2 |
T |
C |
7: 120,992,305 (GRCm39) |
L85P |
probably damaging |
Het |
Igsf9 |
T |
C |
1: 172,322,338 (GRCm39) |
V511A |
possibly damaging |
Het |
Insyn2b |
A |
G |
11: 34,354,349 (GRCm39) |
Y473C |
probably damaging |
Het |
Kcnma1 |
A |
T |
14: 24,053,839 (GRCm39) |
C54S |
possibly damaging |
Het |
Klhdc4 |
A |
G |
8: 122,531,732 (GRCm39) |
V181A |
probably benign |
Het |
Ldb3 |
T |
C |
14: 34,298,986 (GRCm39) |
M213V |
probably null |
Het |
Mertk |
C |
A |
2: 128,613,321 (GRCm39) |
Q446K |
probably benign |
Het |
Ndufs1 |
A |
G |
1: 63,186,317 (GRCm39) |
V46A |
probably benign |
Het |
Neurod4 |
A |
G |
10: 130,107,271 (GRCm39) |
M1T |
probably null |
Het |
Nlrc5 |
T |
A |
8: 95,202,385 (GRCm39) |
C162S |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,159,076 (GRCm39) |
I785T |
possibly damaging |
Het |
Pcmt1 |
T |
C |
10: 7,513,954 (GRCm39) |
I224M |
possibly damaging |
Het |
Pisd |
C |
T |
5: 32,894,707 (GRCm39) |
R533H |
probably benign |
Het |
Plcxd3 |
C |
A |
15: 4,546,676 (GRCm39) |
Q227K |
probably benign |
Het |
Polr1b |
A |
T |
2: 128,947,271 (GRCm39) |
K199* |
probably null |
Het |
Ppp1r10 |
T |
C |
17: 36,240,381 (GRCm39) |
V557A |
probably damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,291,193 (GRCm39) |
Y248H |
probably damaging |
Het |
Rsrp1 |
T |
C |
4: 134,651,331 (GRCm39) |
S32P |
unknown |
Het |
Setdb2 |
T |
G |
14: 59,660,814 (GRCm39) |
S110R |
possibly damaging |
Het |
Srcin1 |
A |
G |
11: 97,439,777 (GRCm39) |
C152R |
probably benign |
Het |
Syk |
A |
G |
13: 52,765,083 (GRCm39) |
N70S |
probably benign |
Het |
Tlr4 |
T |
A |
4: 66,752,217 (GRCm39) |
D59E |
probably damaging |
Het |
Tm9sf4 |
T |
A |
2: 153,024,378 (GRCm39) |
I67N |
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,784 (GRCm39) |
Y24F |
probably damaging |
Het |
Tsga13 |
A |
G |
6: 30,876,951 (GRCm39) |
S189P |
probably damaging |
Het |
Tspan33 |
A |
G |
6: 29,717,232 (GRCm39) |
D210G |
probably benign |
Het |
Use1 |
G |
T |
8: 71,822,331 (GRCm39) |
R278L |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,767,423 (GRCm39) |
N403D |
probably damaging |
Het |
Zfp263 |
C |
T |
16: 3,564,318 (GRCm39) |
P203S |
probably benign |
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 |
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'- TCAGCAACAGCTTGGCATAGC -3'
(R):5'- AGAGCAGTGTCCAGGACTTG -3'
Sequencing Primer
(F):5'- ATAGCCTGGGACTCAGCTAC -3'
(R):5'- ACTTGGGGCAAGGCAACC -3'
|
Posted On |
2017-01-03 |