Incidental Mutation 'RF028:Eps8'
| ID |
604230 |
| Institutional Source |
Beutler Lab
|
| 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: 0.370)
|
| Stock # |
RF028 (G1)
|
| Quality Score |
188.46 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
137454242-137626262 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
TCGCTC to TCGCTCGCTC
at 137494061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058210]
[ENSMUST00000100841]
[ENSMUST00000111878]
[ENSMUST00000132920]
[ENSMUST00000147526]
|
| AlphaFold |
Q08509 |
| PDB Structure |
THE SH3 DOMAIN OF EPS8 EXISTS AS A NOVEL INTERTWINED DIMER [X-RAY DIFFRACTION]
EPS8 SH3 DOMAIN INTERTWINED DIMER [X-RAY DIFFRACTION]
EPS8 SH3 CLOSED MONOMER [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058210
|
| SMART Domains |
Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
| 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
|
| SMART Domains |
Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
| 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: 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 |
probably benign
Transcript: ENSMUST00000147526
|
| SMART Domains |
Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
GCTGTG |
GCTGTGCCTCCTGTG |
1: 82,891,299 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCCGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCAGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
C |
CGGG |
17: 5,045,873 (GRCm39) |
|
probably benign |
Het |
| Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably null |
Het |
| Boc |
GAC |
G |
16: 44,316,796 (GRCm39) |
|
probably null |
Het |
| Cacna1f |
GAG |
GAGAAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGAAG |
X: 7,486,302 (GRCm39) |
|
probably benign |
Het |
| Catsper2 |
ATCGCTTTCCTCGTTTTCG |
ATCG |
2: 121,228,207 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| E4f1 |
CGC |
CGCGGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
| Ermn |
AACT |
AACTACT |
2: 57,938,078 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
| Gab3 |
CTTCTT |
CTTATTCTT |
X: 74,043,606 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,623 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTC |
CTCTGGGTC |
X: 71,314,369 (GRCm39) |
|
probably benign |
Het |
| Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TG |
TGGGTGAG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
CAGCTGCAG |
CAGCTGCAGCAGCAGCCATAGCTGCAG |
4: 59,610,650 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
TTTTCCTTTT |
TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT |
9: 106,447,813 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTATT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
CTCCTCCT |
C |
9: 21,192,367 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GTTGCTGCCACTG |
GTTGCTGCCACTGTTGCTGCCACTG |
3: 92,925,438 (GRCm39) |
|
probably benign |
Het |
| Loricrin |
CGCCGCCT |
C |
3: 91,989,206 (GRCm39) |
|
probably null |
Het |
| Luzp1 |
A |
AGGTGGCCTCTTCAGG |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CCAACA |
CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGGAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
AGAT |
AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT |
2: 119,458,059 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
CCCCCC |
CCCCCCGCCCCC |
2: 156,146,543 (GRCm39) |
|
probably benign |
Het |
| Ppp1r8 |
TCTCTCTCAC |
TC |
4: 132,557,926 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG |
CGG |
2: 155,938,050 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
GA |
GAGTA |
14: 52,386,855 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
AGCGATCCTCCCCAGTCCCGCAAGGCC |
AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC |
5: 77,164,248 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TTGTCTTGTCAGAATCACCTCCTGG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,139 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CAGGACT |
CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
AACAGCAGC |
AACAGCAGCTACAGCAGC |
8: 109,682,728 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AGGAACCTTACTCACCTGCAG -3'
(R):5'- CAGCTAGAACCAAATTACTTATGCC -3'
Sequencing Primer
(F):5'- AACCTTACTCACCTGCAGTCTGAC -3'
(R):5'- CCAAATTACTTATGCCTTTGTTTCAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation