Incidental Mutation 'R6885:Eps15'
ID |
536773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps15
|
Ensembl Gene |
ENSMUSG00000028552 |
Gene Name |
epidermal growth factor receptor pathway substrate 15 |
Synonyms |
2410112D09Rik |
MMRRC Submission |
045031-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6885 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109166361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 85
(N85D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
[ENSMUST00000177089]
|
AlphaFold |
P42567 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102729
AA Change: N85D
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099790 Gene: ENSMUSG00000028552 AA Change: N85D
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 |
probably damaging
Transcript: ENSMUST00000132165
AA Change: N85D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118949 Gene: ENSMUSG00000028552 AA Change: N85D
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 damaging
Transcript: ENSMUST00000175776
AA Change: N85D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135270 Gene: ENSMUSG00000028552 AA Change: N85D
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: N85D
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000135034 Gene: ENSMUSG00000028552 AA Change: N85D
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: ENSMUST00000177089
|
SMART Domains |
Protein: ENSMUSP00000134922 Gene: ENSMUSG00000028552
Domain | Start | End | E-Value | Type |
SCOP:d1qjta_
|
4 |
69 |
4e-5 |
SMART |
PDB:1QJT|A
|
15 |
72 |
9e-36 |
PDB |
Blast:EH
|
15 |
84 |
3e-39 |
BLAST |
|
Meta Mutation Damage Score |
0.1050 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (58/59) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,119,332 (GRCm39) |
I1025M |
probably benign |
Het |
Adamtsl5 |
T |
A |
10: 80,179,465 (GRCm39) |
T164S |
probably benign |
Het |
Ankar |
C |
T |
1: 72,682,195 (GRCm39) |
A1239T |
unknown |
Het |
Aox4 |
A |
T |
1: 58,303,537 (GRCm39) |
S1192C |
probably damaging |
Het |
Atl2 |
T |
C |
17: 80,159,982 (GRCm39) |
D68G |
probably damaging |
Het |
Btnl4 |
T |
C |
17: 34,691,919 (GRCm39) |
I228V |
probably benign |
Het |
Catsper4 |
T |
C |
4: 133,942,460 (GRCm39) |
T231A |
probably benign |
Het |
Ccl12 |
A |
T |
11: 81,993,523 (GRCm39) |
T54S |
probably damaging |
Het |
Cntn1 |
T |
C |
15: 92,140,980 (GRCm39) |
|
probably null |
Het |
Cog5 |
T |
A |
12: 31,944,198 (GRCm39) |
D694E |
probably damaging |
Het |
Crat |
T |
A |
2: 30,305,208 (GRCm39) |
|
probably benign |
Het |
Crot |
T |
C |
5: 9,023,635 (GRCm39) |
T418A |
probably benign |
Het |
Cubn |
G |
A |
2: 13,323,089 (GRCm39) |
P2826L |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,981,598 (GRCm39) |
F1698L |
possibly damaging |
Het |
Dock8 |
T |
A |
19: 25,124,742 (GRCm39) |
D1019E |
possibly damaging |
Het |
Exoc1 |
T |
C |
5: 76,706,889 (GRCm39) |
S457P |
probably damaging |
Het |
Ext1 |
G |
A |
15: 52,965,088 (GRCm39) |
T426I |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,405,489 (GRCm39) |
S747P |
possibly damaging |
Het |
Gas7 |
A |
G |
11: 67,574,213 (GRCm39) |
D396G |
probably damaging |
Het |
Gm5114 |
G |
T |
7: 39,057,580 (GRCm39) |
R680S |
probably benign |
Het |
Gpcpd1 |
A |
T |
2: 132,395,994 (GRCm39) |
L94M |
possibly damaging |
Het |
Gse1 |
C |
A |
8: 120,956,221 (GRCm39) |
|
probably benign |
Het |
Hmgb1 |
T |
C |
5: 148,987,471 (GRCm39) |
E26G |
probably benign |
Het |
Incenp |
C |
T |
19: 9,852,496 (GRCm39) |
R714Q |
unknown |
Het |
Krt73 |
T |
C |
15: 101,704,833 (GRCm39) |
E351G |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,938,121 (GRCm39) |
|
probably null |
Het |
Lpin2 |
T |
G |
17: 71,522,145 (GRCm39) |
S60A |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,649,927 (GRCm39) |
|
probably null |
Het |
Mafb |
A |
G |
2: 160,207,939 (GRCm39) |
S220P |
possibly damaging |
Het |
Maml3 |
TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
3: 51,605,000 (GRCm39) |
|
|
Het |
Mcmbp |
T |
C |
7: 128,326,833 (GRCm39) |
|
probably null |
Het |
Or1e30 |
A |
T |
11: 73,677,926 (GRCm39) |
H54L |
possibly damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,941 (GRCm39) |
T277A |
probably damaging |
Het |
Paqr9 |
T |
C |
9: 95,442,096 (GRCm39) |
S29P |
probably benign |
Het |
Parm1 |
A |
G |
5: 91,742,069 (GRCm39) |
T146A |
possibly damaging |
Het |
Pgm2 |
T |
A |
5: 64,261,221 (GRCm39) |
F238L |
probably benign |
Het |
Pigv |
A |
T |
4: 133,392,792 (GRCm39) |
F126Y |
probably damaging |
Het |
Pitx2 |
T |
C |
3: 129,012,257 (GRCm39) |
M222T |
probably damaging |
Het |
Plekhg6 |
T |
C |
6: 125,355,693 (GRCm39) |
N37S |
probably benign |
Het |
Pramel25 |
T |
C |
4: 143,520,103 (GRCm39) |
C116R |
probably damaging |
Het |
Psme4 |
A |
T |
11: 30,784,307 (GRCm39) |
K961* |
probably null |
Het |
Rbpj |
T |
C |
5: 53,810,493 (GRCm39) |
W392R |
probably damaging |
Het |
Reg3a |
T |
A |
6: 78,358,038 (GRCm39) |
|
probably null |
Het |
Rfc3 |
C |
T |
5: 151,571,749 (GRCm39) |
S85N |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,435,696 (GRCm39) |
T80A |
probably benign |
Het |
Sash1 |
T |
C |
10: 8,659,985 (GRCm39) |
T195A |
probably damaging |
Het |
Ska1 |
A |
G |
18: 74,339,910 (GRCm39) |
V12A |
probably benign |
Het |
Slc25a1 |
A |
G |
16: 17,745,294 (GRCm39) |
V80A |
probably benign |
Het |
Slc26a5 |
A |
T |
5: 22,039,342 (GRCm39) |
V217D |
probably damaging |
Het |
Slc46a1 |
A |
G |
11: 78,357,805 (GRCm39) |
D286G |
probably benign |
Het |
Spata2l |
A |
T |
8: 123,962,297 (GRCm39) |
L88Q |
probably damaging |
Het |
Sptbn1 |
T |
G |
11: 30,088,634 (GRCm39) |
Q876P |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,914,407 (GRCm39) |
I2377F |
possibly damaging |
Het |
Thbs4 |
A |
T |
13: 92,899,377 (GRCm39) |
D539E |
probably damaging |
Het |
Tmem154 |
T |
A |
3: 84,599,813 (GRCm39) |
C162S |
possibly damaging |
Het |
Tpcn1 |
T |
C |
5: 120,682,502 (GRCm39) |
E502G |
probably benign |
Het |
Traf7 |
G |
A |
17: 24,731,266 (GRCm39) |
R257C |
probably benign |
Het |
Tsc22d2 |
T |
C |
3: 58,323,629 (GRCm39) |
Y174H |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,594,230 (GRCm39) |
E802G |
probably damaging |
Het |
Vmn1r5 |
T |
C |
6: 56,963,042 (GRCm39) |
V239A |
possibly damaging |
Het |
Vmn2r99 |
T |
A |
17: 19,600,457 (GRCm39) |
S494T |
possibly damaging |
Het |
Zbtb38 |
A |
G |
9: 96,568,517 (GRCm39) |
F856L |
probably damaging |
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 |
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 |
|
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'- ACGAATATACTGTTATATTTGCTGCT -3'
(R):5'- TACTAAGAAATGAAACCAGGTAGCTA -3'
Sequencing Primer
(F):5'- ATTTGCTGCTACATAATACTGTGG -3'
(R):5'- GGGGAATCCAGTCTCATCTGAATTC -3'
|
Posted On |
2018-10-18 |