Incidental Mutation 'R3151:Eps15'
| ID |
264392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| MMRRC Submission |
040603-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3151 (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 109223419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 458
(D458E)
|
| 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: D277E
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
AA Change: D277E
| 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: D591E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: D591E
| 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 benign
Transcript: ENSMUST00000132165
AA Change: D458E
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: D458E
| 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: D627E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: D627E
| 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: D591E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: D591E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
G |
8: 25,271,647 (GRCm39) |
Y587H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,987,308 (GRCm39) |
V2864A |
probably benign |
Het |
| Ano2 |
G |
A |
6: 125,990,280 (GRCm39) |
|
probably null |
Het |
| Arl5c |
A |
G |
11: 97,883,159 (GRCm39) |
I147T |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,274,378 (GRCm39) |
F369I |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,228 (GRCm39) |
F38L |
probably benign |
Het |
| B230217C12Rik |
TGTGTCG |
TG |
11: 97,733,014 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
A |
T |
1: 136,033,532 (GRCm39) |
Y1003F |
probably damaging |
Het |
| Ccdc178 |
A |
T |
18: 21,944,618 (GRCm39) |
M847K |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,621,272 (GRCm39) |
K601E |
probably benign |
Het |
| Cnih4 |
A |
G |
1: 180,981,292 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
A |
T |
17: 47,058,452 (GRCm39) |
V57E |
probably damaging |
Het |
| Creb3l1 |
T |
A |
2: 91,832,378 (GRCm39) |
E48V |
probably damaging |
Het |
| Dus3l |
T |
A |
17: 57,075,899 (GRCm39) |
F482I |
probably benign |
Het |
| Dync1i2 |
A |
G |
2: 71,064,060 (GRCm39) |
|
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,198,360 (GRCm39) |
T102A |
possibly damaging |
Het |
| Elf1 |
G |
A |
14: 79,804,755 (GRCm39) |
|
probably null |
Het |
| Elp1 |
T |
C |
4: 56,770,985 (GRCm39) |
Y986C |
probably benign |
Het |
| Ep400 |
G |
T |
5: 110,851,435 (GRCm39) |
T1349N |
unknown |
Het |
| F2rl2 |
G |
A |
13: 95,837,638 (GRCm39) |
V228I |
probably benign |
Het |
| Fads3 |
T |
G |
19: 10,035,262 (GRCm39) |
S438A |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,816,665 (GRCm39) |
C2376S |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,473,652 (GRCm39) |
S1138P |
possibly damaging |
Het |
| Ggt5 |
T |
C |
10: 75,445,076 (GRCm39) |
I361T |
probably benign |
Het |
| Gpr158 |
C |
T |
2: 21,581,771 (GRCm39) |
R417W |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,174,388 (GRCm39) |
I626V |
probably damaging |
Het |
| Gys2 |
T |
C |
6: 142,402,059 (GRCm39) |
E260G |
probably benign |
Het |
| Ido2 |
T |
A |
8: 25,023,776 (GRCm39) |
Y354F |
possibly damaging |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,543 (GRCm39) |
L66P |
probably benign |
Het |
| Kremen1 |
T |
C |
11: 5,145,012 (GRCm39) |
K455E |
probably damaging |
Het |
| Krtap19-9b |
T |
C |
16: 88,729,096 (GRCm39) |
S2G |
unknown |
Het |
| Magea1 |
A |
T |
X: 153,872,093 (GRCm39) |
M211K |
probably benign |
Het |
| Mtx2 |
G |
A |
2: 74,677,634 (GRCm39) |
|
probably null |
Het |
| Nlrp14 |
G |
A |
7: 106,781,759 (GRCm39) |
V319I |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,159,665 (GRCm39) |
T33S |
probably benign |
Het |
| Or12j2 |
A |
T |
7: 139,916,243 (GRCm39) |
H156L |
probably benign |
Het |
| Or2t6 |
T |
A |
14: 14,175,203 (GRCm38) |
N293I |
probably damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,466 (GRCm39) |
H162L |
probably damaging |
Het |
| P2rx7 |
A |
G |
5: 122,819,329 (GRCm39) |
T584A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,692 (GRCm39) |
Q359R |
probably damaging |
Het |
| Phtf2 |
T |
C |
5: 20,970,802 (GRCm39) |
E147G |
probably damaging |
Het |
| Ptges2 |
G |
A |
2: 32,286,488 (GRCm39) |
A68T |
probably benign |
Het |
| Rab33b |
A |
T |
3: 51,401,069 (GRCm39) |
N181I |
possibly damaging |
Het |
| Rnf213 |
A |
T |
11: 119,359,718 (GRCm39) |
R4370S |
probably benign |
Het |
| Rpf1 |
G |
A |
3: 146,213,390 (GRCm39) |
R254W |
probably damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,363,081 (GRCm39) |
R82* |
probably null |
Het |
| Setbp1 |
A |
G |
18: 78,900,650 (GRCm39) |
S1006P |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,849,180 (GRCm39) |
S983G |
probably benign |
Het |
| Ssr2 |
T |
C |
3: 88,487,323 (GRCm39) |
I46T |
probably damaging |
Het |
| Ssx2ip |
G |
A |
3: 146,124,138 (GRCm39) |
G51D |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,757,514 (GRCm39) |
L878H |
probably damaging |
Het |
| Th |
G |
A |
7: 142,447,812 (GRCm39) |
Q329* |
probably null |
Het |
| Tln2 |
C |
T |
9: 67,237,829 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,805,862 (GRCm39) |
L542P |
probably damaging |
Het |
| Trp53bp2 |
A |
G |
1: 182,256,525 (GRCm39) |
T32A |
probably damaging |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,548 (GRCm39) |
T122S |
probably benign |
Het |
| Vmn2r121 |
C |
T |
X: 123,040,849 (GRCm39) |
C494Y |
probably benign |
Het |
| Vmn2r51 |
A |
T |
7: 9,833,968 (GRCm39) |
Y357N |
probably damaging |
Het |
| Vmn2r55 |
G |
T |
7: 12,404,634 (GRCm39) |
S256R |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,261,123 (GRCm39) |
T88A |
probably benign |
Het |
| Zfp977 |
A |
C |
7: 42,229,870 (GRCm39) |
N218K |
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 |
|
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'- GGGCTGTTAAAATAATCTTTTCCAAA -3'
(R):5'- CAGTGAACTTGATTCTACATTAAATGG -3'
Sequencing Primer
(F):5'- AACTCAGTTGTCAGGCTCAG -3'
(R):5'- CAAGTGACCTACATTCTGATC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation