Incidental Mutation 'R6245:Eps15'
ID |
505513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps15
|
Ensembl Gene |
ENSMUSG00000028552 |
Gene Name |
epidermal growth factor receptor pathway substrate 15 |
Synonyms |
2410112D09Rik |
MMRRC Submission |
044403-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6245 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 109240063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 852
(S852N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135270
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030281]
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
|
AlphaFold |
P42567 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030281
AA Change: S502N
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000030281 Gene: ENSMUSG00000028552 AA Change: S502N
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 |
possibly damaging
Transcript: ENSMUST00000102729
AA Change: S816N
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099790 Gene: ENSMUSG00000028552 AA Change: S816N
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 benign
Transcript: ENSMUST00000132165
AA Change: S683N
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000118949 Gene: ENSMUSG00000028552 AA Change: S683N
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 |
possibly damaging
Transcript: ENSMUST00000175776
AA Change: S852N
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000135270 Gene: ENSMUSG00000028552 AA Change: S852N
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 |
noncoding transcript
Transcript: ENSMUST00000177140
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177192
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
Validation Efficiency |
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,026,249 (GRCm39) |
I937T |
probably damaging |
Het |
Adgrl3 |
T |
A |
5: 81,836,403 (GRCm39) |
N720K |
probably benign |
Het |
Akr1c21 |
T |
G |
13: 4,625,231 (GRCm39) |
V54G |
possibly damaging |
Het |
Alpi |
G |
T |
1: 87,028,556 (GRCm39) |
D111E |
probably damaging |
Het |
Armc3 |
C |
T |
2: 19,253,516 (GRCm39) |
T219M |
probably damaging |
Het |
Bms1 |
T |
A |
6: 118,373,797 (GRCm39) |
E780V |
probably damaging |
Het |
Ccdc159 |
T |
C |
9: 21,846,864 (GRCm39) |
S244P |
probably damaging |
Het |
Cdon |
T |
C |
9: 35,388,235 (GRCm39) |
W737R |
probably damaging |
Het |
Chdh |
T |
A |
14: 29,757,262 (GRCm39) |
V395D |
probably damaging |
Het |
Col22a1 |
C |
A |
15: 71,845,665 (GRCm39) |
D366Y |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,207,902 (GRCm39) |
Y218H |
probably benign |
Het |
Crnkl1 |
T |
A |
2: 145,770,051 (GRCm39) |
N264I |
probably benign |
Het |
Ctnnd2 |
T |
C |
15: 30,905,894 (GRCm39) |
L847P |
probably damaging |
Het |
Cyp4a31 |
A |
C |
4: 115,428,545 (GRCm39) |
T382P |
possibly damaging |
Het |
Dcaf8 |
A |
T |
1: 171,993,434 (GRCm39) |
M1L |
probably benign |
Het |
Ddx31 |
T |
A |
2: 28,734,994 (GRCm39) |
F52I |
probably benign |
Het |
Dynlt5 |
A |
G |
4: 102,845,864 (GRCm39) |
N32S |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,675,834 (GRCm39) |
Y1542F |
probably benign |
Het |
Fchsd1 |
A |
T |
18: 38,095,828 (GRCm39) |
L552Q |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,563,245 (GRCm39) |
M421V |
probably benign |
Het |
Gm1110 |
T |
G |
9: 26,832,043 (GRCm39) |
H36P |
probably benign |
Het |
Hadha |
C |
T |
5: 30,325,042 (GRCm39) |
|
probably null |
Het |
Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
Intu |
C |
A |
3: 40,629,756 (GRCm39) |
T362K |
probably damaging |
Het |
Jaml |
C |
T |
9: 45,009,217 (GRCm39) |
T248I |
probably damaging |
Het |
Kcnj1 |
A |
T |
9: 32,308,163 (GRCm39) |
S176C |
probably damaging |
Het |
Kcnj9 |
A |
G |
1: 172,153,704 (GRCm39) |
L140P |
probably damaging |
Het |
Kif7 |
T |
C |
7: 79,351,891 (GRCm39) |
K957R |
probably damaging |
Het |
Klc4 |
T |
A |
17: 46,947,605 (GRCm39) |
I366F |
probably damaging |
Het |
Lamb2 |
A |
G |
9: 108,365,398 (GRCm39) |
|
probably null |
Het |
Madd |
T |
C |
2: 91,008,449 (GRCm39) |
D151G |
probably benign |
Het |
Man2a1 |
C |
A |
17: 65,017,821 (GRCm39) |
A689E |
probably damaging |
Het |
Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
Msmp |
T |
C |
4: 43,583,909 (GRCm39) |
Y48C |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,235,086 (GRCm39) |
N567S |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,342,653 (GRCm39) |
Y748H |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,368,307 (GRCm39) |
A192T |
possibly damaging |
Het |
Or2p2 |
T |
A |
13: 21,256,860 (GRCm39) |
T204S |
possibly damaging |
Het |
Or2y14 |
T |
A |
11: 49,404,992 (GRCm39) |
F176I |
possibly damaging |
Het |
Or5w15 |
G |
C |
2: 87,568,240 (GRCm39) |
Q143E |
possibly damaging |
Het |
Pcdhb8 |
T |
G |
18: 37,490,222 (GRCm39) |
D633E |
possibly damaging |
Het |
Pcdhb9 |
G |
A |
18: 37,536,207 (GRCm39) |
V734M |
probably damaging |
Het |
Plscr1 |
T |
C |
9: 92,141,374 (GRCm39) |
Y21H |
unknown |
Het |
Ptk2b |
G |
T |
14: 66,400,515 (GRCm39) |
P767T |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 23,051,989 (GRCm39) |
Y1424H |
probably damaging |
Het |
Sec31a |
T |
A |
5: 100,534,043 (GRCm39) |
Q118L |
probably benign |
Het |
Selenop |
A |
G |
15: 3,304,216 (GRCm39) |
S21G |
probably damaging |
Het |
Shank1 |
G |
A |
7: 44,001,677 (GRCm39) |
S1132N |
unknown |
Het |
Slf1 |
A |
G |
13: 77,232,502 (GRCm39) |
L534P |
probably damaging |
Het |
Sparcl1 |
T |
A |
5: 104,233,013 (GRCm39) |
H596L |
probably damaging |
Het |
Spocd1 |
C |
T |
4: 129,850,901 (GRCm39) |
|
probably null |
Het |
Tbc1d24 |
A |
T |
17: 24,404,967 (GRCm39) |
I59N |
probably damaging |
Het |
Tjp3 |
G |
A |
10: 81,113,110 (GRCm39) |
T580I |
probably benign |
Het |
Tmem154 |
C |
T |
3: 84,591,603 (GRCm39) |
T51M |
possibly damaging |
Het |
Tmem8b |
G |
A |
4: 43,690,246 (GRCm39) |
V894I |
probably benign |
Het |
Trbv20 |
A |
T |
6: 41,165,840 (GRCm39) |
L88F |
possibly damaging |
Het |
Tssk2 |
A |
C |
16: 17,716,812 (GRCm39) |
I72L |
possibly damaging |
Het |
Tub |
T |
A |
7: 108,626,265 (GRCm39) |
I267N |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,261,829 (GRCm39) |
F434I |
possibly damaging |
Het |
Vmn2r42 |
T |
C |
7: 8,195,733 (GRCm39) |
N471S |
probably damaging |
Het |
Vmn2r94 |
C |
G |
17: 18,478,385 (GRCm39) |
G121R |
probably damaging |
Het |
Wdr72 |
T |
C |
9: 74,055,505 (GRCm39) |
S245P |
probably damaging |
Het |
Zbtb42 |
A |
G |
12: 112,645,969 (GRCm39) |
Y48C |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,343,592 (GRCm39) |
V657A |
possibly damaging |
Het |
Zfp768 |
A |
T |
7: 126,943,263 (GRCm39) |
C288* |
probably null |
Het |
Zfp988 |
T |
A |
4: 147,416,470 (GRCm39) |
C301* |
probably null |
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 |
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'- CTGTACACCACCTGCAGTTC -3'
(R):5'- GTAATGAAGTCATCTAAGAACCAGC -3'
Sequencing Primer
(F):5'- GTACACCACCTGCAGTTCTTTAAATG -3'
(R):5'- TTGGAAGACTATGAAGAAATCCTTG -3'
|
Posted On |
2018-02-28 |