Incidental Mutation 'IGL02478:Eps8'
| ID |
295023 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eps8
|
| Ensembl Gene |
ENSMUSG00000015766 |
| Gene Name |
epidermal growth factor receptor pathway substrate 8 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
IGL02478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
137454242-137626262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 137499840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 213
(P213L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058210]
[ENSMUST00000100841]
[ENSMUST00000111878]
[ENSMUST00000132920]
[ENSMUST00000146442]
[ENSMUST00000147526]
|
| AlphaFold |
Q08509 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058210
AA Change: P196L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: P196L
| 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 |
probably benign
Transcript: ENSMUST00000100841
AA Change: P196L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: P196L
| 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 |
probably benign
Transcript: ENSMUST00000111878
AA Change: P196L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: P196L
| 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
AA Change: P213L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000122517
Gene: ENSMUSG00000015766
AA Change: P213L
| 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 |
probably benign
Transcript: ENSMUST00000146442
|
| SMART Domains |
Protein: ENSMUSP00000119997
Gene: ENSMUSG00000015766
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
60 |
188 |
3.18e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147526
AA Change: P196L
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: P196L
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153933
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,856,018 (GRCm39) |
A42E |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,451,985 (GRCm39) |
F247L |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,049,332 (GRCm39) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,408,585 (GRCm39) |
D1974G |
unknown |
Het |
| Asxl3 |
C |
T |
18: 22,656,070 (GRCm39) |
A1360V |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,825,337 (GRCm39) |
T1599S |
possibly damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,670,190 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,701,794 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
C |
T |
9: 64,222,055 (GRCm39) |
E452K |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
| Erbb3 |
T |
A |
10: 128,407,227 (GRCm39) |
R978* |
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,111,403 (GRCm39) |
C142S |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,695,039 (GRCm39) |
E735G |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,123,864 (GRCm39) |
V174A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,942,364 (GRCm39) |
L419P |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,814,736 (GRCm39) |
V3490L |
probably benign |
Het |
| Ftcd |
A |
T |
10: 76,417,255 (GRCm39) |
R255* |
probably null |
Het |
| Galc |
T |
C |
12: 98,179,391 (GRCm39) |
N506S |
possibly damaging |
Het |
| Gm20441 |
G |
T |
10: 75,608,644 (GRCm39) |
A26E |
probably damaging |
Het |
| Gm21969 |
T |
G |
4: 139,367,999 (GRCm39) |
|
probably null |
Het |
| Ifitm3 |
T |
A |
7: 140,589,787 (GRCm39) |
M89L |
possibly damaging |
Het |
| Ift25 |
T |
A |
4: 107,132,449 (GRCm39) |
S79T |
probably benign |
Het |
| Inmt |
T |
C |
6: 55,150,355 (GRCm39) |
E94G |
probably damaging |
Het |
| Insrr |
G |
A |
3: 87,716,719 (GRCm39) |
G649D |
probably benign |
Het |
| Ivd |
T |
C |
2: 118,692,572 (GRCm39) |
L24P |
probably benign |
Het |
| Kcnc1 |
A |
G |
7: 46,084,593 (GRCm39) |
N506D |
probably benign |
Het |
| Krt39 |
T |
A |
11: 99,411,723 (GRCm39) |
D121V |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,461,536 (GRCm39) |
I510V |
probably benign |
Het |
| Mkx |
C |
T |
18: 7,002,418 (GRCm39) |
V43M |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,579,235 (GRCm39) |
N108S |
possibly damaging |
Het |
| Mob1b |
T |
C |
5: 88,903,947 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,661,844 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
T |
G |
11: 67,260,204 (GRCm39) |
S1881A |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,558,717 (GRCm39) |
E843G |
probably benign |
Het |
| Ngef |
A |
G |
1: 87,408,301 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,344 (GRCm39) |
I158N |
probably damaging |
Het |
| Osm |
A |
G |
11: 4,189,507 (GRCm39) |
Y97C |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,816,792 (GRCm39) |
L4556Q |
unknown |
Het |
| Pcyox1l |
T |
C |
18: 61,830,780 (GRCm39) |
D364G |
probably benign |
Het |
| Plekha6 |
T |
A |
1: 133,211,031 (GRCm39) |
V467E |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,758,158 (GRCm39) |
S312T |
probably damaging |
Het |
| Ripk1 |
T |
A |
13: 34,194,572 (GRCm39) |
L70Q |
probably damaging |
Het |
| Rnaseh1 |
A |
T |
12: 28,705,662 (GRCm39) |
Y162F |
probably damaging |
Het |
| Ror2 |
T |
A |
13: 53,275,703 (GRCm39) |
T195S |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,709,006 (GRCm39) |
L33P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,151,968 (GRCm39) |
C163* |
probably null |
Het |
| Slc25a37 |
A |
T |
14: 69,486,883 (GRCm39) |
N133K |
probably benign |
Het |
| Slitrk3 |
A |
C |
3: 72,958,046 (GRCm39) |
V242G |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,801,845 (GRCm39) |
S82P |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,088,199 (GRCm39) |
N1417D |
probably benign |
Het |
| Tas2r122 |
A |
G |
6: 132,688,578 (GRCm39) |
V105A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,661 (GRCm39) |
E1763G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,018,624 (GRCm39) |
N1261S |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,055,889 (GRCm39) |
S750P |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,519,786 (GRCm39) |
T568A |
probably benign |
Het |
| Zfp319 |
T |
A |
8: 96,055,721 (GRCm39) |
I161F |
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 |
|
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 |
137,467,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5197:Eps8
|
UTSW |
6 |
137,467,289 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
R6529:Eps8
|
UTSW |
6 |
137,491,335 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation