Incidental Mutation 'R4930:Eps8l1'
| ID |
381152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8l1
|
| Ensembl Gene |
ENSMUSG00000006154 |
| Gene Name |
EPS8-like 1 |
| Synonyms |
DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik |
| MMRRC Submission |
042531-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4930 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4463673-4483486 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4463915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 13
(R13Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086372]
[ENSMUST00000163137]
[ENSMUST00000163804]
[ENSMUST00000163893]
[ENSMUST00000167298]
[ENSMUST00000171445]
[ENSMUST00000167810]
[ENSMUST00000170635]
[ENSMUST00000169820]
|
| 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: R13Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| 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: R13Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167599
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171445
AA Change: R13Q
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: R13Q
| 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: ENSMUST00000170423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171665
|
| 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 |
|
| 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: ENSMUST00000169820
|
| SMART Domains |
Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
93 |
1.1e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
99% (88/89) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
C |
T |
12: 72,953,008 (GRCm39) |
E242K |
possibly damaging |
Het |
| A930011G23Rik |
A |
G |
5: 99,370,263 (GRCm39) |
M499T |
possibly damaging |
Het |
| Abcb8 |
G |
A |
5: 24,605,779 (GRCm39) |
V196M |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,988,331 (GRCm39) |
M3205T |
possibly damaging |
Het |
| Ankrd1 |
A |
G |
19: 36,092,433 (GRCm39) |
Y265H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,965,024 (GRCm39) |
S446P |
probably benign |
Het |
| Apip |
C |
A |
2: 102,922,226 (GRCm39) |
Y197* |
probably null |
Het |
| Arhgef11 |
T |
G |
3: 87,635,901 (GRCm39) |
V925G |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,362,062 (GRCm39) |
V929A |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,030,306 (GRCm39) |
D122V |
probably benign |
Het |
| B2m |
A |
T |
2: 121,982,128 (GRCm39) |
D116V |
possibly damaging |
Het |
| Bhmt-ps1 |
A |
G |
4: 26,369,184 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1g |
T |
A |
11: 94,334,899 (GRCm39) |
I803F |
probably damaging |
Het |
| Ccdc43 |
A |
T |
11: 102,581,111 (GRCm39) |
V113E |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,772,238 (GRCm39) |
Y388* |
probably null |
Het |
| Chd3 |
G |
A |
11: 69,245,034 (GRCm39) |
|
probably benign |
Het |
| Chil3 |
C |
T |
3: 106,071,524 (GRCm39) |
D47N |
possibly damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,375,710 (GRCm39) |
T361A |
possibly damaging |
Het |
| Cops3 |
C |
A |
11: 59,726,193 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
G |
T |
2: 37,673,326 (GRCm39) |
G74V |
probably damaging |
Het |
| Cspg4b |
G |
T |
13: 113,464,196 (GRCm39) |
G1453C |
probably damaging |
Het |
| Cyp20a1 |
A |
T |
1: 60,405,878 (GRCm39) |
Y224F |
probably damaging |
Het |
| Diaph3 |
A |
G |
14: 87,378,602 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,550,904 (GRCm39) |
Y3127* |
probably null |
Het |
| Eef1akmt3 |
A |
C |
10: 126,877,224 (GRCm39) |
S14A |
possibly damaging |
Het |
| Ehf |
C |
A |
2: 103,097,202 (GRCm39) |
R250L |
probably damaging |
Het |
| Frem2 |
A |
C |
3: 53,563,736 (GRCm39) |
V257G |
possibly damaging |
Het |
| Gc |
T |
C |
5: 89,587,448 (GRCm39) |
T259A |
probably benign |
Het |
| Gm4952 |
A |
T |
19: 12,604,376 (GRCm39) |
N263Y |
probably benign |
Het |
| Gpcpd1 |
T |
A |
2: 132,388,794 (GRCm39) |
H326L |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,510,994 (GRCm39) |
F617L |
probably damaging |
Het |
| Hoxb4 |
T |
C |
11: 96,209,662 (GRCm39) |
Y23H |
probably damaging |
Het |
| Hsf4 |
T |
A |
8: 105,999,330 (GRCm39) |
|
probably null |
Het |
| Ift56 |
A |
T |
6: 38,368,475 (GRCm39) |
Y174F |
probably damaging |
Het |
| Ighv1-81 |
T |
C |
12: 115,883,924 (GRCm39) |
D109G |
probably damaging |
Het |
| Irx4 |
T |
C |
13: 73,417,032 (GRCm39) |
V476A |
probably benign |
Het |
| Katnb1 |
T |
A |
8: 95,823,922 (GRCm39) |
|
probably null |
Het |
| L3mbtl1 |
A |
G |
2: 162,807,692 (GRCm39) |
Y490C |
probably damaging |
Het |
| Lemd2 |
A |
G |
17: 27,412,806 (GRCm39) |
|
probably null |
Het |
| Lrrc38 |
A |
T |
4: 143,096,438 (GRCm39) |
T250S |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,349,215 (GRCm39) |
Y34* |
probably null |
Het |
| Mgst1 |
T |
A |
6: 138,130,507 (GRCm39) |
F79I |
probably benign |
Het |
| Midn |
T |
C |
10: 79,991,189 (GRCm39) |
S357P |
probably benign |
Het |
| Mmp3 |
T |
A |
9: 7,447,640 (GRCm39) |
D208E |
probably benign |
Het |
| Mrps26 |
A |
G |
2: 130,406,862 (GRCm39) |
E163G |
probably damaging |
Het |
| Mycbpap |
A |
T |
11: 94,393,983 (GRCm39) |
M371K |
probably benign |
Het |
| Mynn |
A |
C |
3: 30,661,191 (GRCm39) |
N91T |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,177,265 (GRCm39) |
L292P |
probably damaging |
Het |
| Nid1 |
A |
T |
13: 13,684,596 (GRCm39) |
R1228W |
probably damaging |
Het |
| Nphs2 |
T |
C |
1: 156,148,499 (GRCm39) |
Y121H |
probably damaging |
Het |
| Or1f19 |
T |
G |
16: 3,410,299 (GRCm39) |
L13R |
probably damaging |
Het |
| Or4p7 |
G |
A |
2: 88,222,284 (GRCm39) |
R231H |
probably benign |
Het |
| Or5ac22 |
C |
A |
16: 59,135,236 (GRCm39) |
C178F |
probably damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,237 (GRCm39) |
I147N |
probably benign |
Het |
| Or5d38 |
A |
C |
2: 87,954,684 (GRCm39) |
I215S |
probably benign |
Het |
| Or7e176 |
T |
C |
9: 20,171,313 (GRCm39) |
I59T |
probably damaging |
Het |
| Or9q2 |
T |
C |
19: 13,772,915 (GRCm39) |
H20R |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,808,542 (GRCm39) |
T308M |
probably damaging |
Het |
| Prdx6 |
C |
T |
1: 161,069,263 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
T |
A |
4: 11,615,579 (GRCm39) |
D862E |
probably damaging |
Het |
| Ripor1 |
A |
G |
8: 106,343,814 (GRCm39) |
Y344C |
probably damaging |
Het |
| Rnf112 |
T |
C |
11: 61,344,291 (GRCm39) |
M43V |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,655 (GRCm39) |
N1747S |
probably benign |
Het |
| Rps27 |
A |
G |
3: 90,120,306 (GRCm39) |
V22A |
probably damaging |
Het |
| Spaca1 |
A |
G |
4: 34,044,236 (GRCm39) |
V86A |
possibly damaging |
Het |
| Spdef |
A |
G |
17: 27,937,136 (GRCm39) |
Y156H |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,009,784 (GRCm39) |
E433D |
possibly damaging |
Het |
| Srpra |
T |
A |
9: 35,126,326 (GRCm39) |
F506L |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,636,610 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,002,777 (GRCm39) |
R8046Q |
probably damaging |
Het |
| Tbx5 |
T |
A |
5: 120,021,090 (GRCm39) |
S365R |
probably benign |
Het |
| Terb1 |
G |
T |
8: 105,174,580 (GRCm39) |
P698Q |
probably benign |
Het |
| Tmbim7 |
T |
A |
5: 3,711,948 (GRCm39) |
Y27* |
probably null |
Het |
| Tmem106c |
C |
A |
15: 97,862,909 (GRCm39) |
A60E |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,720,609 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,562,714 (GRCm39) |
I28747V |
possibly damaging |
Het |
| Unc13a |
C |
T |
8: 72,083,148 (GRCm39) |
|
probably null |
Het |
| Wdr81 |
T |
C |
11: 75,342,750 (GRCm39) |
D839G |
probably benign |
Het |
| Wfdc15a |
G |
C |
2: 164,041,725 (GRCm39) |
Q33E |
probably benign |
Het |
| Zfp456 |
T |
C |
13: 67,515,065 (GRCm39) |
R214G |
probably benign |
Het |
| Zfp457 |
T |
A |
13: 67,442,164 (GRCm39) |
Y137F |
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 |
|
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 |
|
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'- CCCCTTAACTGTGAGCTTGAT -3'
(R):5'- TTTCTTGGCAGCAGAGGAAAAC -3'
Sequencing Primer
(F):5'- GAGCTTGATTTTTCTCCCCTGGAAG -3'
(R):5'- TTGGCTCCCAAAGTCAAGCG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation