Incidental Mutation 'R8960:Eps8l1'
ID |
682279 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps8l1
|
Ensembl Gene |
ENSMUSG00000006154 |
Gene Name |
EPS8-like 1 |
Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8960 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 4481214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 672
(R672L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013886]
[ENSMUST00000086372]
[ENSMUST00000124248]
[ENSMUST00000163137]
[ENSMUST00000163893]
[ENSMUST00000164987]
[ENSMUST00000171445]
|
AlphaFold |
Q8R5F8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000013886
|
SMART Domains |
Protein: ENSMUSP00000013886 Gene: ENSMUSG00000019254
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
low complexity region
|
74 |
97 |
N/A |
INTRINSIC |
ANK
|
104 |
133 |
3.71e-4 |
SMART |
ANK
|
137 |
166 |
3.43e-8 |
SMART |
low complexity region
|
205 |
210 |
N/A |
INTRINSIC |
ANK
|
230 |
259 |
7.95e-4 |
SMART |
ANK
|
263 |
292 |
2.41e-3 |
SMART |
low complexity region
|
369 |
385 |
N/A |
INTRINSIC |
low complexity region
|
401 |
413 |
N/A |
INTRINSIC |
internal_repeat_2
|
450 |
508 |
2.86e-5 |
PROSPERO |
internal_repeat_2
|
545 |
599 |
2.86e-5 |
PROSPERO |
low complexity region
|
631 |
649 |
N/A |
INTRINSIC |
Pfam:PRKG1_interact
|
682 |
782 |
9.7e-33 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086372
AA Change: R611L
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000083559 Gene: ENSMUSG00000006154 AA Change: R611L
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: ENSMUST00000124248
|
SMART Domains |
Protein: ENSMUSP00000120029 Gene: ENSMUSG00000019254
Domain | Start | End | E-Value | Type |
ANK
|
25 |
54 |
3.71e-4 |
SMART |
ANK
|
58 |
87 |
3.43e-8 |
SMART |
low complexity region
|
126 |
131 |
N/A |
INTRINSIC |
ANK
|
151 |
180 |
7.95e-4 |
SMART |
ANK
|
184 |
213 |
2.41e-3 |
SMART |
low complexity region
|
290 |
306 |
N/A |
INTRINSIC |
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
PDB:2KJY|A
|
445 |
498 |
3e-11 |
PDB |
low complexity region
|
553 |
571 |
N/A |
INTRINSIC |
coiled coil region
|
604 |
704 |
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 |
possibly damaging
Transcript: ENSMUST00000163893
AA Change: R611L
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125840 Gene: ENSMUSG00000006154 AA Change: R611L
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: ENSMUST00000164987
|
SMART Domains |
Protein: ENSMUSP00000130665 Gene: ENSMUSG00000006154
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
25 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171445
AA Change: R672L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133206 Gene: ENSMUSG00000006154 AA Change: R672L
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: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
100% (78/78) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
G |
A |
9: 44,186,063 (GRCm39) |
Q603* |
probably null |
Het |
Adar |
A |
G |
3: 89,647,516 (GRCm39) |
Y165C |
probably damaging |
Het |
Afp |
A |
G |
5: 90,651,500 (GRCm39) |
T372A |
probably benign |
Het |
Asah1 |
T |
A |
8: 41,800,061 (GRCm39) |
L184F |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,067,132 (GRCm39) |
E3548G |
probably damaging |
Het |
Bpifb2 |
A |
T |
2: 153,731,046 (GRCm39) |
I206F |
possibly damaging |
Het |
Btn1a1 |
C |
A |
13: 23,648,741 (GRCm39) |
D31Y |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,952,892 (GRCm39) |
D1110V |
probably damaging |
Het |
Ccdc162 |
T |
A |
10: 41,429,178 (GRCm39) |
D1901V |
probably damaging |
Het |
Cd101 |
A |
G |
3: 100,910,817 (GRCm39) |
V947A |
probably benign |
Het |
Cd55b |
A |
T |
1: 130,338,375 (GRCm39) |
S238T |
possibly damaging |
Het |
Cdc25c |
T |
C |
18: 34,866,329 (GRCm39) |
I437V |
possibly damaging |
Het |
Cfap97 |
T |
C |
8: 46,623,605 (GRCm39) |
S332P |
probably damaging |
Het |
Chpf |
A |
G |
1: 75,452,398 (GRCm39) |
L352P |
probably damaging |
Het |
Cntln |
T |
A |
4: 85,018,961 (GRCm39) |
M1217K |
possibly damaging |
Het |
Cntrl |
A |
G |
2: 35,052,053 (GRCm39) |
E1629G |
possibly damaging |
Het |
Csnk1g2 |
T |
C |
10: 80,474,396 (GRCm39) |
Y206H |
probably damaging |
Het |
Cyp2c55 |
T |
A |
19: 38,995,547 (GRCm39) |
W20R |
probably null |
Het |
Dhx35 |
A |
T |
2: 158,657,393 (GRCm39) |
H130L |
possibly damaging |
Het |
Dnm1 |
A |
G |
2: 32,202,741 (GRCm39) |
V54A |
probably damaging |
Het |
Eea1 |
T |
A |
10: 95,864,381 (GRCm39) |
S967T |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,820,772 (GRCm39) |
|
probably benign |
Het |
Elf3 |
A |
T |
1: 135,182,813 (GRCm39) |
I304N |
probably damaging |
Het |
Fam163a |
A |
T |
1: 155,954,862 (GRCm39) |
C96* |
probably null |
Het |
Fancd2 |
T |
C |
6: 113,540,129 (GRCm39) |
|
probably null |
Het |
Fbxo3 |
C |
T |
2: 103,858,274 (GRCm39) |
L23F |
possibly damaging |
Het |
Fbxw14 |
A |
G |
9: 109,114,367 (GRCm39) |
V121A |
possibly damaging |
Het |
Fgd6 |
T |
A |
10: 93,880,868 (GRCm39) |
V574D |
probably benign |
Het |
Gask1b |
T |
C |
3: 79,794,293 (GRCm39) |
S254P |
probably benign |
Het |
Gbp11 |
A |
G |
5: 105,479,251 (GRCm39) |
F124S |
probably damaging |
Het |
Grin1 |
A |
T |
2: 25,195,428 (GRCm39) |
|
probably benign |
Het |
Grm2 |
T |
G |
9: 106,531,345 (GRCm39) |
E48A |
probably benign |
Het |
H2-M10.5 |
T |
A |
17: 37,084,770 (GRCm39) |
Y165N |
probably benign |
Het |
Hoxa13 |
A |
C |
6: 52,236,976 (GRCm39) |
S172A |
probably benign |
Het |
Ifih1 |
T |
A |
2: 62,442,235 (GRCm39) |
K376N |
possibly damaging |
Het |
Insrr |
C |
A |
3: 87,720,386 (GRCm39) |
T1008K |
probably damaging |
Het |
Itih1 |
A |
G |
14: 30,655,414 (GRCm39) |
S594P |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,106,914 (GRCm39) |
S1365P |
probably benign |
Het |
Malrd1 |
A |
T |
2: 15,570,241 (GRCm39) |
K158* |
probably null |
Het |
Man2c1 |
G |
A |
9: 57,045,279 (GRCm39) |
G504R |
probably damaging |
Het |
Mbd1 |
T |
C |
18: 74,406,890 (GRCm39) |
|
probably null |
Het |
Micall2 |
G |
A |
5: 139,702,025 (GRCm39) |
A323V |
probably benign |
Het |
Mroh9 |
A |
C |
1: 162,883,196 (GRCm39) |
F428V |
probably benign |
Het |
Myo7b |
T |
A |
18: 32,127,299 (GRCm39) |
|
probably benign |
Het |
Niban1 |
A |
T |
1: 151,591,463 (GRCm39) |
H535L |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,922,438 (GRCm39) |
V6567E |
probably damaging |
Het |
Or1e28-ps1 |
A |
C |
11: 73,615,230 (GRCm39) |
S207A |
unknown |
Het |
Or1e33 |
A |
T |
11: 73,738,167 (GRCm39) |
C261* |
probably null |
Het |
Or2g25 |
T |
A |
17: 37,970,760 (GRCm39) |
T155S |
probably benign |
Het |
Or2y1d |
A |
T |
11: 49,321,543 (GRCm39) |
Q80L |
probably benign |
Het |
Or5h25 |
T |
A |
16: 58,930,555 (GRCm39) |
R139S |
probably benign |
Het |
Or8b53 |
A |
T |
9: 38,667,385 (GRCm39) |
I134F |
possibly damaging |
Het |
Pde4dip |
T |
C |
3: 97,700,464 (GRCm39) |
D238G |
probably damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Pgbd5 |
T |
A |
8: 125,111,175 (GRCm39) |
Y172F |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,795,176 (GRCm39) |
T2288A |
probably damaging |
Het |
Ppp6r2 |
T |
A |
15: 89,137,239 (GRCm39) |
M1K |
probably null |
Het |
Rc3h1 |
A |
G |
1: 160,774,164 (GRCm39) |
T344A |
probably damaging |
Het |
Rgs5 |
T |
C |
1: 169,504,461 (GRCm39) |
V37A |
possibly damaging |
Het |
Rgs9 |
A |
G |
11: 109,139,815 (GRCm39) |
S17P |
possibly damaging |
Het |
Rusc1 |
T |
A |
3: 88,991,865 (GRCm39) |
D407V |
probably damaging |
Het |
Rwdd1 |
T |
A |
10: 33,895,383 (GRCm39) |
I18F |
possibly damaging |
Het |
Satb2 |
C |
T |
1: 56,910,470 (GRCm39) |
|
probably null |
Het |
Sds |
A |
G |
5: 120,621,659 (GRCm39) |
E267G |
probably damaging |
Het |
Sema4b |
T |
A |
7: 79,875,076 (GRCm39) |
V822E |
probably damaging |
Het |
Sfxn5 |
A |
T |
6: 85,266,176 (GRCm39) |
M107K |
probably damaging |
Het |
Slc5a8 |
C |
T |
10: 88,722,035 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
T |
C |
19: 40,387,048 (GRCm39) |
D6G |
probably damaging |
Het |
Syt14 |
A |
C |
1: 192,666,515 (GRCm39) |
|
probably benign |
Het |
Vmn2r124 |
T |
G |
17: 18,283,291 (GRCm39) |
Y328* |
probably null |
Het |
Vmn2r86 |
T |
A |
10: 130,289,672 (GRCm39) |
E74D |
probably benign |
Het |
Vmo1 |
A |
C |
11: 70,404,476 (GRCm39) |
L175W |
probably damaging |
Het |
Vps13a |
G |
T |
19: 16,683,247 (GRCm39) |
L982I |
possibly damaging |
Het |
Wdr19 |
T |
C |
5: 65,398,211 (GRCm39) |
V812A |
probably benign |
Het |
Wdr27 |
T |
C |
17: 15,103,908 (GRCm39) |
I733V |
probably benign |
Het |
Wdr54 |
A |
T |
6: 83,132,739 (GRCm39) |
H38Q |
probably damaging |
Het |
Wdr76 |
G |
A |
2: 121,341,104 (GRCm39) |
V50I |
probably damaging |
Het |
Zfp930 |
T |
A |
8: 69,680,541 (GRCm39) |
N59K |
probably damaging |
Het |
Zfyve9 |
T |
C |
4: 108,501,558 (GRCm39) |
N1218S |
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 |
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 |
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'- TTTTCAGGCTCCACTCTGGG -3'
(R):5'- CCAATCAGAGCCTGTCTTTGG -3'
Sequencing Primer
(F):5'- TCCACTCTGGGCAAGCTAGAG -3'
(R):5'- GTAGCAAATTGCCCTACAGTTTTC -3'
|
Posted On |
2021-08-31 |