Incidental Mutation 'R6529:Eps8'
| ID |
522180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps8
|
| Ensembl Gene |
ENSMUSG00000015766 |
| Gene Name |
epidermal growth factor receptor pathway substrate 8 |
| Synonyms |
|
| MMRRC Submission |
044655-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.370)
|
| Stock # |
R6529 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
137454242-137626262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 137491335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 348
(H348Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058210]
[ENSMUST00000100841]
[ENSMUST00000111878]
[ENSMUST00000132920]
[ENSMUST00000147526]
|
| AlphaFold |
Q08509 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058210
AA Change: H348Y
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: H348Y
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
60 |
197 |
8.38e-34 |
SMART |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
SH3
|
533 |
588 |
5.48e-14 |
SMART |
|
low complexity region
|
620 |
651 |
N/A |
INTRINSIC |
|
Blast:SH3
|
652 |
686 |
6e-6 |
BLAST |
|
PDB:2E8M|A
|
698 |
783 |
5e-50 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100841
AA Change: H348Y
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: H348Y
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
60 |
197 |
8.38e-34 |
SMART |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
SH3
|
533 |
588 |
5.48e-14 |
SMART |
|
low complexity region
|
620 |
651 |
N/A |
INTRINSIC |
|
Blast:SH3
|
652 |
686 |
6e-6 |
BLAST |
|
PDB:2E8M|A
|
698 |
783 |
5e-50 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111878
AA Change: H348Y
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: H348Y
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
60 |
197 |
8.38e-34 |
SMART |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
SH3
|
533 |
588 |
5.48e-14 |
SMART |
|
low complexity region
|
620 |
651 |
N/A |
INTRINSIC |
|
Blast:SH3
|
652 |
686 |
6e-6 |
BLAST |
|
PDB:2E8M|A
|
698 |
783 |
5e-50 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132920
|
| SMART Domains |
Protein: ENSMUSP00000122517
Gene: ENSMUSG00000015766
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
|
PTB
|
77 |
214 |
8.38e-34 |
SMART |
|
low complexity region
|
220 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147526
AA Change: H348Y
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: H348Y
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
60 |
197 |
8.38e-34 |
SMART |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
SH3
|
533 |
587 |
4.56e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152046
|
| Meta Mutation Damage Score |
0.2173 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in resistance to some of the intoxicating effects of ethanol and increased ethanol consumption. NMDA receptor currents and their sensitivity to inhibition by ethanol are abnormal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
T |
7: 78,739,479 (GRCm39) |
M296L |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,949,677 (GRCm39) |
|
probably null |
Het |
| B3galnt2 |
G |
T |
13: 14,170,377 (GRCm39) |
R242S |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,098,750 (GRCm39) |
I218M |
possibly damaging |
Het |
| Casz1 |
G |
A |
4: 149,022,646 (GRCm39) |
E571K |
probably damaging |
Het |
| Ccdc163 |
A |
G |
4: 116,566,121 (GRCm39) |
|
probably null |
Het |
| Cd109 |
A |
G |
9: 78,619,907 (GRCm39) |
D1383G |
probably damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,610,065 (GRCm39) |
T95A |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,153,191 (GRCm39) |
E219G |
possibly damaging |
Het |
| Cibar1 |
A |
G |
4: 12,168,978 (GRCm39) |
V175A |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,494,034 (GRCm39) |
V1730D |
probably damaging |
Het |
| Fbxo2 |
A |
T |
4: 148,249,511 (GRCm39) |
D187V |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,657 (GRCm39) |
Y2992F |
probably benign |
Het |
| Gle1 |
A |
T |
2: 29,825,539 (GRCm39) |
T10S |
possibly damaging |
Het |
| Got2 |
T |
C |
8: 96,615,013 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
T |
C |
10: 40,127,251 (GRCm39) |
T34A |
probably benign |
Het |
| H4c11 |
G |
T |
13: 21,919,476 (GRCm39) |
V71F |
possibly damaging |
Het |
| Klf15 |
C |
T |
6: 90,444,394 (GRCm39) |
T323I |
probably damaging |
Het |
| Krtap5-3 |
C |
A |
7: 141,756,079 (GRCm39) |
C305* |
probably null |
Het |
| Map2k6 |
A |
T |
11: 110,383,388 (GRCm39) |
D99V |
probably damaging |
Het |
| Nckap5l |
G |
T |
15: 99,324,475 (GRCm39) |
P676Q |
probably benign |
Het |
| Nup188 |
A |
T |
2: 30,216,466 (GRCm39) |
T757S |
possibly damaging |
Het |
| Or10ak13 |
C |
T |
4: 118,638,907 (GRCm39) |
V292I |
probably benign |
Het |
| Or51q1c |
T |
C |
7: 103,653,133 (GRCm39) |
V217A |
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,711,071 (GRCm39) |
A1384S |
probably damaging |
Het |
| Plekho2 |
C |
T |
9: 65,480,383 (GRCm39) |
R14H |
probably benign |
Het |
| Qsox2 |
A |
T |
2: 26,107,753 (GRCm39) |
C247S |
probably damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,073,451 (GRCm39) |
V469A |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,958,551 (GRCm39) |
T74A |
probably benign |
Het |
| Spmip7 |
T |
C |
11: 11,465,009 (GRCm39) |
F120S |
possibly damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,274,310 (GRCm39) |
T91A |
probably benign |
Het |
| Sult3a2 |
T |
C |
10: 33,655,733 (GRCm39) |
Y82C |
probably damaging |
Het |
| Taf1b |
A |
T |
12: 24,606,650 (GRCm39) |
H490L |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,771,014 (GRCm39) |
H2804Q |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,567,298 (GRCm39) |
I106V |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,901,143 (GRCm39) |
V333D |
probably damaging |
Het |
| Wdr46 |
T |
A |
17: 34,168,120 (GRCm39) |
L564Q |
possibly damaging |
Het |
| Wrn |
T |
C |
8: 33,826,004 (GRCm39) |
|
probably null |
Het |
| Zfp664 |
C |
T |
5: 124,963,352 (GRCm39) |
H249Y |
probably damaging |
Het |
| Zfp975 |
A |
C |
7: 42,311,325 (GRCm39) |
H429Q |
possibly damaging |
Het |
|
| Other mutations in Eps8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Eps8
|
APN |
6 |
137,482,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00499:Eps8
|
APN |
6 |
137,499,886 (GRCm39) |
nonsense |
probably null |
|
|
IGL01587:Eps8
|
APN |
6 |
137,491,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01789:Eps8
|
APN |
6 |
137,516,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01836:Eps8
|
APN |
6 |
137,460,539 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01951:Eps8
|
APN |
6 |
137,514,669 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02478:Eps8
|
APN |
6 |
137,499,840 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02546:Eps8
|
APN |
6 |
137,456,064 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02861:Eps8
|
APN |
6 |
137,476,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03115:Eps8
|
APN |
6 |
137,504,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Eps8
|
APN |
6 |
137,489,143 (GRCm39) |
splice site |
probably benign |
|
|
FR4589:Eps8
|
UTSW |
6 |
137,494,067 (GRCm39) |
frame shift |
probably null |
|
|
R0113:Eps8
|
UTSW |
6 |
137,514,682 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0245:Eps8
|
UTSW |
6 |
137,456,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0462:Eps8
|
UTSW |
6 |
137,491,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0905:Eps8
|
UTSW |
6 |
137,491,305 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1106:Eps8
|
UTSW |
6 |
137,491,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1178:Eps8
|
UTSW |
6 |
137,499,852 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1181:Eps8
|
UTSW |
6 |
137,499,852 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1448:Eps8
|
UTSW |
6 |
137,499,852 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1612:Eps8
|
UTSW |
6 |
137,477,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1835:Eps8
|
UTSW |
6 |
137,499,277 (GRCm39) |
nonsense |
probably null |
|
|
R2068:Eps8
|
UTSW |
6 |
137,499,172 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2113:Eps8
|
UTSW |
6 |
137,514,633 (GRCm39) |
splice site |
probably null |
|
|
R2943:Eps8
|
UTSW |
6 |
137,499,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3032:Eps8
|
UTSW |
6 |
137,489,175 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3879:Eps8
|
UTSW |
6 |
137,504,360 (GRCm39) |
splice site |
probably benign |
|
|
R3973:Eps8
|
UTSW |
6 |
137,486,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4199:Eps8
|
UTSW |
6 |
137,491,325 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4384:Eps8
|
UTSW |
6 |
137,476,590 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4728:Eps8
|
UTSW |
6 |
137,486,160 (GRCm39) |
nonsense |
probably null |
|
|
R4840:Eps8
|
UTSW |
6 |
137,504,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Eps8
|
UTSW |
6 |
137,491,293 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4860:Eps8
|
UTSW |
6 |
137,491,293 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4864:Eps8
|
UTSW |
6 |
137,455,967 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5197:Eps8
|
UTSW |
6 |
137,467,289 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5197:Eps8
|
UTSW |
6 |
137,467,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5214:Eps8
|
UTSW |
6 |
137,504,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5457:Eps8
|
UTSW |
6 |
137,489,175 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5464:Eps8
|
UTSW |
6 |
137,504,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:Eps8
|
UTSW |
6 |
137,456,094 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5981:Eps8
|
UTSW |
6 |
137,459,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6150:Eps8
|
UTSW |
6 |
137,494,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6473:Eps8
|
UTSW |
6 |
137,456,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6574:Eps8
|
UTSW |
6 |
137,460,596 (GRCm39) |
nonsense |
probably null |
|
|
R6890:Eps8
|
UTSW |
6 |
137,489,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7180:Eps8
|
UTSW |
6 |
137,456,072 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7229:Eps8
|
UTSW |
6 |
137,516,354 (GRCm39) |
missense |
probably benign |
|
|
R7314:Eps8
|
UTSW |
6 |
137,504,090 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7336:Eps8
|
UTSW |
6 |
137,486,211 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7784:Eps8
|
UTSW |
6 |
137,476,585 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7942:Eps8
|
UTSW |
6 |
137,507,575 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7988:Eps8
|
UTSW |
6 |
137,505,569 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7989:Eps8
|
UTSW |
6 |
137,505,569 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7991:Eps8
|
UTSW |
6 |
137,505,569 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8235:Eps8
|
UTSW |
6 |
137,460,576 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8262:Eps8
|
UTSW |
6 |
137,459,252 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8834:Eps8
|
UTSW |
6 |
137,504,306 (GRCm39) |
intron |
probably benign |
|
|
R8902:Eps8
|
UTSW |
6 |
137,489,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Eps8
|
UTSW |
6 |
137,504,415 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9225:Eps8
|
UTSW |
6 |
137,507,561 (GRCm39) |
missense |
probably benign |
0.18 |
|
RF025:Eps8
|
UTSW |
6 |
137,494,064 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF028:Eps8
|
UTSW |
6 |
137,494,061 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF035:Eps8
|
UTSW |
6 |
137,494,068 (GRCm39) |
frame shift |
probably null |
|
|
RF039:Eps8
|
UTSW |
6 |
137,494,068 (GRCm39) |
frame shift |
probably null |
|
|
RF046:Eps8
|
UTSW |
6 |
137,494,061 (GRCm39) |
critical splice donor site |
probably benign |
|
|
RF057:Eps8
|
UTSW |
6 |
137,494,062 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1177:Eps8
|
UTSW |
6 |
137,476,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCGTCAAACTTCACATTCAG -3'
(R):5'- GCGTGCATGACAAAGAGTTG -3'
Sequencing Primer
(F):5'- CACATTCAGAGTTTACAAGCATGC -3'
(R):5'- ACAAAGAGTTGTATTTCTTGGCTGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation