Incidental Mutation 'R3727:Eps15'
ID |
270822 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps15
|
Ensembl Gene |
ENSMUSG00000028552 |
Gene Name |
epidermal growth factor receptor pathway substrate 15 |
Synonyms |
2410112D09Rik |
MMRRC Submission |
040718-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3727 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 109227882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030281]
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
|
AlphaFold |
P42567 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030281
|
SMART Domains |
Protein: ENSMUSP00000030281 Gene: ENSMUSG00000028552
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
|
SMART Domains |
Protein: ENSMUSP00000099790 Gene: ENSMUSG00000028552
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: ENSMUST00000122138
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126015
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132165
|
SMART Domains |
Protein: ENSMUSP00000118949 Gene: ENSMUSG00000028552
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
|
SMART Domains |
Protein: ENSMUSP00000135270 Gene: ENSMUSG00000028552
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
|
SMART Domains |
Protein: ENSMUSP00000135034 Gene: ENSMUSG00000028552
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 |
probably benign
Transcript: ENSMUST00000177192
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177140
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (39/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
C |
T |
15: 72,985,706 (GRCm39) |
V630M |
probably damaging |
Het |
Alk |
T |
C |
17: 72,208,395 (GRCm39) |
|
probably benign |
Het |
Atp6v0a1 |
T |
A |
11: 100,921,246 (GRCm39) |
S243T |
probably benign |
Het |
BC035044 |
C |
A |
6: 128,867,822 (GRCm39) |
G37* |
probably null |
Het |
C3 |
G |
T |
17: 57,514,379 (GRCm39) |
N1435K |
possibly damaging |
Het |
Caly |
T |
C |
7: 139,650,417 (GRCm39) |
E175G |
probably damaging |
Het |
Ccng2 |
T |
C |
5: 93,422,810 (GRCm39) |
F330S |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,822,075 (GRCm39) |
A1157T |
probably benign |
Het |
Cyp2c38 |
A |
G |
19: 39,380,739 (GRCm39) |
|
probably benign |
Het |
Cypt1 |
T |
A |
X: 16,389,674 (GRCm39) |
L128* |
probably null |
Het |
Dmgdh |
A |
G |
13: 93,828,575 (GRCm39) |
N239D |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 30,958,622 (GRCm39) |
Q2155* |
probably null |
Het |
Dpp3 |
A |
G |
19: 4,973,213 (GRCm39) |
I127T |
probably benign |
Het |
Exosc10 |
A |
G |
4: 148,649,734 (GRCm39) |
D388G |
probably damaging |
Het |
Flt3 |
C |
A |
5: 147,291,733 (GRCm39) |
R572S |
probably damaging |
Het |
Gm44501 |
T |
C |
17: 40,887,506 (GRCm39) |
F8S |
unknown |
Het |
Hormad2 |
C |
A |
11: 4,358,598 (GRCm39) |
G270C |
probably benign |
Het |
Ifrd2 |
C |
T |
9: 107,468,881 (GRCm39) |
R40* |
probably null |
Het |
Ina |
G |
A |
19: 47,004,158 (GRCm39) |
R322H |
possibly damaging |
Het |
Kif13b |
A |
G |
14: 65,003,197 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,340,773 (GRCm39) |
N1034S |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,353,104 (GRCm39) |
E1770V |
probably damaging |
Het |
Mpi |
T |
C |
9: 57,452,132 (GRCm39) |
I381M |
possibly damaging |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Nt5c |
C |
T |
11: 115,381,474 (GRCm39) |
W185* |
probably null |
Het |
Or2j3 |
A |
T |
17: 38,616,310 (GRCm39) |
I14N |
possibly damaging |
Het |
Or2y1e |
G |
A |
11: 49,218,622 (GRCm39) |
R128H |
probably benign |
Het |
Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
Pdzrn3 |
T |
A |
6: 101,133,906 (GRCm39) |
D441V |
probably damaging |
Het |
Rab42 |
A |
G |
4: 132,029,964 (GRCm39) |
M86T |
probably benign |
Het |
Slc52a3 |
C |
T |
2: 151,847,701 (GRCm39) |
P270S |
probably benign |
Het |
Stpg2 |
T |
C |
3: 139,004,257 (GRCm39) |
F278S |
probably damaging |
Het |
Styxl2 |
G |
A |
1: 165,927,075 (GRCm39) |
R846C |
probably damaging |
Het |
Tmem240 |
T |
C |
4: 155,824,235 (GRCm39) |
|
probably benign |
Het |
Vmn2r22 |
A |
G |
6: 123,627,584 (GRCm39) |
L4P |
possibly damaging |
Het |
Vmn2r95 |
C |
T |
17: 18,661,744 (GRCm39) |
Q497* |
probably null |
Het |
Wnk1 |
T |
C |
6: 119,969,414 (GRCm39) |
H347R |
probably damaging |
Het |
Zmym2 |
A |
T |
14: 57,156,806 (GRCm39) |
|
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 |
R0414:Eps15
|
UTSW |
4 |
109,223,677 (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 |
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'- GGCTCATAAGGAATGCCTCAAAG -3'
(R):5'- AGGACAACTTCATCCTGAGAC -3'
Sequencing Primer
(F):5'- GCCTCAAAGTGTCTTTTAATATGGC -3'
(R):5'- ACACTATAAATCATCTACTCCTCTCC -3'
|
Posted On |
2015-03-18 |