Incidental Mutation 'R0414:Eps15'
| ID |
40156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| MMRRC Submission |
038616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109223677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 485
(D485E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030281]
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
|
| AlphaFold |
P42567 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030281
AA Change: D304E
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
AA Change: D304E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1bg1a1
|
37 |
178 |
8e-8 |
SMART |
|
low complexity region
|
191 |
202 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
308 |
341 |
5.7e-7 |
PROSPERO |
|
low complexity region
|
348 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
478 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
485 |
517 |
5.7e-7 |
PROSPERO |
|
UIM
|
538 |
557 |
3.32e0 |
SMART |
|
UIM
|
564 |
583 |
1.55e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102729
AA Change: D618E
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: D618E
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
8 |
103 |
7.03e-29 |
SMART |
|
EFh
|
52 |
80 |
4.74e-3 |
SMART |
|
EH
|
121 |
215 |
2.91e-53 |
SMART |
|
EFh
|
164 |
192 |
4.67e-2 |
SMART |
|
EH
|
217 |
313 |
1.16e-47 |
SMART |
|
EFh
|
227 |
255 |
1.2e1 |
SMART |
|
EFh
|
261 |
289 |
6.82e1 |
SMART |
|
coiled coil region
|
329 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
622 |
655 |
1.25e-5 |
PROSPERO |
|
low complexity region
|
662 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
792 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
799 |
831 |
1.25e-5 |
PROSPERO |
|
UIM
|
852 |
871 |
3.32e0 |
SMART |
|
UIM
|
878 |
897 |
1.55e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126015
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132165
AA Change: D485E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: D485E
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
8 |
103 |
7.03e-29 |
SMART |
|
EFh
|
52 |
80 |
4.74e-3 |
SMART |
|
EH
|
121 |
215 |
2.91e-53 |
SMART |
|
EFh
|
164 |
192 |
4.67e-2 |
SMART |
|
EH
|
217 |
313 |
1.16e-47 |
SMART |
|
EFh
|
227 |
255 |
1.2e1 |
SMART |
|
EFh
|
261 |
289 |
6.82e1 |
SMART |
|
coiled coil region
|
329 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
611 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
659 |
N/A |
INTRINSIC |
|
UIM
|
719 |
738 |
3.32e0 |
SMART |
|
UIM
|
745 |
764 |
1.55e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175776
AA Change: D654E
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: D654E
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
8 |
103 |
7.03e-29 |
SMART |
|
EFh
|
52 |
80 |
4.74e-3 |
SMART |
|
EH
|
121 |
215 |
2.91e-53 |
SMART |
|
EFh
|
164 |
192 |
4.67e-2 |
SMART |
|
EH
|
253 |
349 |
4.38e-48 |
SMART |
|
EFh
|
263 |
291 |
1.2e1 |
SMART |
|
EFh
|
297 |
325 |
6.82e1 |
SMART |
|
coiled coil region
|
365 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
658 |
691 |
1.92e-5 |
PROSPERO |
|
low complexity region
|
698 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
828 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
835 |
867 |
1.92e-5 |
PROSPERO |
|
UIM
|
888 |
907 |
3.32e0 |
SMART |
|
UIM
|
914 |
933 |
1.55e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176251
AA Change: D618E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: D618E
| Domain | Start | End | E-Value | Type |
|---|
|
EH
|
8 |
103 |
7.03e-29 |
SMART |
|
EFh
|
52 |
80 |
4.74e-3 |
SMART |
|
EH
|
121 |
215 |
2.91e-53 |
SMART |
|
EFh
|
164 |
192 |
4.67e-2 |
SMART |
|
EH
|
217 |
313 |
1.16e-47 |
SMART |
|
EFh
|
227 |
255 |
1.2e1 |
SMART |
|
EFh
|
261 |
289 |
6.82e1 |
SMART |
|
coiled coil region
|
329 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
791 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177192
|
| Meta Mutation Damage Score |
0.0619 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
96% (64/67) |
| 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 part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygotes for a null allele show increased marginal zone B cell number with no changes in precursor cells, proliferation, apoptosis, migration or B cell responses. Homozygotes for a different null allele show decreased mean corpuscular hemoglobin (MCH), decreased MCH concentration, and dermatitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
A |
T |
5: 103,797,356 (GRCm39) |
V51E |
probably benign |
Het |
| Abo |
T |
C |
2: 26,733,428 (GRCm39) |
Y259C |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,674,794 (GRCm39) |
S457P |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,206,281 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,439,230 (GRCm39) |
I1188T |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,706,084 (GRCm39) |
S730P |
possibly damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,539,575 (GRCm39) |
|
probably benign |
Het |
| Atpsckmt |
T |
A |
15: 31,617,148 (GRCm39) |
Y126* |
probably null |
Het |
| B3gnt7 |
T |
C |
1: 86,233,351 (GRCm39) |
I82T |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,193,526 (GRCm39) |
D400G |
probably benign |
Het |
| Bag4 |
A |
G |
8: 26,258,025 (GRCm39) |
V434A |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,425,476 (GRCm39) |
|
probably null |
Het |
| Cfc1 |
A |
G |
1: 34,576,409 (GRCm39) |
D130G |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,303,813 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
GAGAAGAAG |
GAGAAG |
4: 133,799,947 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,390,064 (GRCm39) |
D727G |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,513,650 (GRCm39) |
V1129F |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,221,411 (GRCm39) |
I688N |
possibly damaging |
Het |
| Dyrk1a |
C |
G |
16: 94,464,701 (GRCm39) |
T103R |
probably damaging |
Het |
| Ebf1 |
C |
T |
11: 44,815,297 (GRCm39) |
R304* |
probably null |
Het |
| Eif2s2 |
A |
G |
2: 154,726,381 (GRCm39) |
|
probably benign |
Het |
| Endov |
T |
G |
11: 119,390,397 (GRCm39) |
Y8* |
probably null |
Het |
| Fam118a |
C |
A |
15: 84,929,890 (GRCm39) |
S39R |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,130,910 (GRCm39) |
M393K |
possibly damaging |
Het |
| Firrm |
T |
C |
1: 163,795,890 (GRCm39) |
I434V |
probably benign |
Het |
| Gab1 |
A |
G |
8: 81,526,918 (GRCm39) |
I60T |
probably damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,583,439 (GRCm39) |
L1059P |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,213,674 (GRCm39) |
|
probably null |
Het |
| Glb1l2 |
T |
A |
9: 26,676,400 (GRCm39) |
K487* |
probably null |
Het |
| H1f1 |
A |
G |
13: 23,948,141 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,591,573 (GRCm39) |
I1875M |
possibly damaging |
Het |
| Jkamp |
T |
C |
12: 72,140,919 (GRCm39) |
|
probably null |
Het |
| Kprp |
C |
T |
3: 92,733,020 (GRCm39) |
C10Y |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,401,372 (GRCm39) |
|
probably null |
Het |
| Lrrn3 |
T |
A |
12: 41,503,939 (GRCm39) |
N126I |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,833,513 (GRCm39) |
F325L |
probably benign |
Het |
| Myadm |
AC |
ACC |
7: 3,345,276 (GRCm39) |
|
probably null |
Het |
| Nagk |
C |
T |
6: 83,774,249 (GRCm39) |
R87* |
probably null |
Het |
| Nipal4 |
T |
A |
11: 46,052,735 (GRCm39) |
I77F |
probably damaging |
Het |
| Or4c112 |
A |
G |
2: 88,853,490 (GRCm39) |
Y286H |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,769,932 (GRCm39) |
H250R |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,657,670 (GRCm39) |
V378A |
possibly damaging |
Het |
| Pfkp |
T |
A |
13: 6,643,246 (GRCm39) |
H524L |
probably benign |
Het |
| Picalm |
A |
T |
7: 89,838,406 (GRCm39) |
N370I |
possibly damaging |
Het |
| Plcl2 |
A |
C |
17: 50,914,983 (GRCm39) |
D664A |
possibly damaging |
Het |
| Ptpn5 |
G |
A |
7: 46,732,884 (GRCm39) |
P320S |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,356,326 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,581,115 (GRCm39) |
D96G |
possibly damaging |
Het |
| Slfn1 |
A |
G |
11: 83,012,096 (GRCm39) |
I71V |
probably benign |
Het |
| Spata1 |
A |
G |
3: 146,181,943 (GRCm39) |
|
probably null |
Het |
| Stx18 |
T |
C |
5: 38,262,349 (GRCm39) |
|
probably benign |
Het |
| Suox |
T |
A |
10: 128,507,326 (GRCm39) |
H234L |
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,495,483 (GRCm39) |
S114G |
probably benign |
Het |
| Tfeb |
T |
A |
17: 48,099,224 (GRCm39) |
|
probably null |
Het |
| Tnks |
A |
C |
8: 35,320,463 (GRCm39) |
V736G |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,514,045 (GRCm39) |
T4A |
probably benign |
Het |
|
| Other mutations in Eps15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Eps15
|
APN |
4 |
109,166,346 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01372:Eps15
|
APN |
4 |
109,179,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01642:Eps15
|
APN |
4 |
109,223,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02207:Eps15
|
APN |
4 |
109,161,945 (GRCm39) |
splice site |
probably benign |
|
|
IGL02394:Eps15
|
APN |
4 |
109,170,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Eps15
|
APN |
4 |
109,186,895 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0117:Eps15
|
UTSW |
4 |
109,240,016 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0928:Eps15
|
UTSW |
4 |
109,170,160 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1545:Eps15
|
UTSW |
4 |
109,169,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1581:Eps15
|
UTSW |
4 |
109,220,383 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1627:Eps15
|
UTSW |
4 |
109,227,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Eps15
|
UTSW |
4 |
109,170,115 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Eps15
|
UTSW |
4 |
109,240,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Eps15
|
UTSW |
4 |
109,181,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1916:Eps15
|
UTSW |
4 |
109,226,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Eps15
|
UTSW |
4 |
109,161,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2046:Eps15
|
UTSW |
4 |
109,227,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Eps15
|
UTSW |
4 |
109,227,866 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2213:Eps15
|
UTSW |
4 |
109,218,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2362:Eps15
|
UTSW |
4 |
109,218,427 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3151:Eps15
|
UTSW |
4 |
109,223,419 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3712:Eps15
|
UTSW |
4 |
109,166,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3727:Eps15
|
UTSW |
4 |
109,227,882 (GRCm39) |
splice site |
probably benign |
|
|
R4361:Eps15
|
UTSW |
4 |
109,237,228 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4381:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R4466:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R4740:Eps15
|
UTSW |
4 |
109,200,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R4799:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R4801:Eps15
|
UTSW |
4 |
109,181,414 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4802:Eps15
|
UTSW |
4 |
109,181,414 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4864:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R4954:Eps15
|
UTSW |
4 |
109,227,875 (GRCm39) |
splice site |
probably null |
|
|
R5134:Eps15
|
UTSW |
4 |
109,223,727 (GRCm39) |
unclassified |
probably benign |
|
|
R5386:Eps15
|
UTSW |
4 |
109,178,422 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5768:Eps15
|
UTSW |
4 |
109,220,373 (GRCm39) |
splice site |
probably null |
|
|
R5870:Eps15
|
UTSW |
4 |
109,218,507 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6245:Eps15
|
UTSW |
4 |
109,240,063 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6290:Eps15
|
UTSW |
4 |
109,220,395 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6291:Eps15
|
UTSW |
4 |
109,162,900 (GRCm39) |
frame shift |
probably null |
|
|
R6493:Eps15
|
UTSW |
4 |
109,226,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Eps15
|
UTSW |
4 |
109,137,599 (GRCm39) |
splice site |
probably null |
|
|
R6885:Eps15
|
UTSW |
4 |
109,166,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6913:Eps15
|
UTSW |
4 |
109,218,427 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7362:Eps15
|
UTSW |
4 |
109,223,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7461:Eps15
|
UTSW |
4 |
109,186,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Eps15
|
UTSW |
4 |
109,186,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7923:Eps15
|
UTSW |
4 |
109,173,069 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7966:Eps15
|
UTSW |
4 |
109,178,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8792:Eps15
|
UTSW |
4 |
109,162,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Eps15
|
UTSW |
4 |
109,169,505 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9296:Eps15
|
UTSW |
4 |
109,173,089 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9369:Eps15
|
UTSW |
4 |
109,240,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Eps15
|
UTSW |
4 |
109,179,270 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0023:Eps15
|
UTSW |
4 |
109,200,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCGAGATTTGACGATGACAAGC -3'
(R):5'- AAGTGTGATTCCATGCCTGGTCTG -3'
Sequencing Primer
(F):5'- TTTGACGATGACAAGCACTCAAAAG -3'
(R):5'- AGTGTGCAATCTCTATCACTGG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation