Incidental Mutation 'R7461:Eps15'
ID |
578440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps15
|
Ensembl Gene |
ENSMUSG00000028552 |
Gene Name |
epidermal growth factor receptor pathway substrate 15 |
Synonyms |
2410112D09Rik |
MMRRC Submission |
045535-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7461 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109186922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 330
(S330P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
|
AlphaFold |
P42567 |
PDB Structure |
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPS15 DPF PEPTIDE [X-RAY DIFFRACTION]
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPS15 DPF PEPTIDE [X-RAY DIFFRACTION]
SOLUTION STRUCTURE OF THE APO EH1 DOMAIN OF MOUSE EPIDERMAL GROWTH FACTOR RECEPTOR SUBSTRATE 15, EPS15 [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102729
AA Change: S330P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099790 Gene: ENSMUSG00000028552 AA Change: S330P
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: S330P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118949 Gene: ENSMUSG00000028552 AA Change: S330P
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: S366P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135270 Gene: ENSMUSG00000028552 AA Change: S366P
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 |
possibly damaging
Transcript: ENSMUST00000176251
AA Change: S330P
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135034 Gene: ENSMUSG00000028552 AA Change: S330P
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 |
|
Meta Mutation Damage Score |
0.1742 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (53/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Adgrb2 |
CTATA |
CTATATA |
4: 129,915,006 (GRCm39) |
|
probably benign |
Het |
Akt2 |
A |
G |
7: 27,336,595 (GRCm39) |
I448V |
probably benign |
Het |
Anapc5 |
G |
A |
5: 122,956,928 (GRCm39) |
T117M |
probably damaging |
Het |
Arhgap10 |
T |
C |
8: 78,115,326 (GRCm39) |
E358G |
probably damaging |
Het |
C1qtnf6 |
T |
A |
15: 78,411,549 (GRCm39) |
K42N |
probably benign |
Het |
Cacna1d |
A |
T |
14: 29,788,120 (GRCm39) |
D1605E |
probably benign |
Het |
Cdkl1 |
T |
A |
12: 69,803,235 (GRCm39) |
I214L |
probably benign |
Het |
Celsr2 |
C |
T |
3: 108,302,956 (GRCm39) |
G2506R |
probably damaging |
Het |
Cenpj |
G |
A |
14: 56,764,501 (GRCm39) |
R1304* |
probably null |
Het |
Cfap58 |
A |
G |
19: 47,970,561 (GRCm39) |
D593G |
possibly damaging |
Het |
Crip2 |
T |
C |
12: 113,107,777 (GRCm39) |
|
probably null |
Het |
Crocc2 |
G |
T |
1: 93,122,311 (GRCm39) |
A735S |
possibly damaging |
Het |
Dcc |
A |
T |
18: 71,439,105 (GRCm39) |
L1279H |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,439,816 (GRCm39) |
|
probably null |
Het |
Dpp8 |
C |
T |
9: 64,960,402 (GRCm39) |
T311M |
possibly damaging |
Het |
Exoc2 |
C |
T |
13: 31,066,255 (GRCm39) |
V474I |
probably benign |
Het |
Fmn1 |
A |
G |
2: 113,194,416 (GRCm39) |
T39A |
unknown |
Het |
Foxn2 |
T |
C |
17: 88,794,311 (GRCm39) |
I416T |
possibly damaging |
Het |
Gbp8 |
T |
C |
5: 105,178,880 (GRCm39) |
E145G |
probably damaging |
Het |
Gjd2 |
A |
C |
2: 113,841,599 (GRCm39) |
S293A |
possibly damaging |
Het |
Gm3676 |
T |
A |
14: 41,365,233 (GRCm39) |
I141L |
probably benign |
Het |
Gm4131 |
A |
G |
14: 62,718,538 (GRCm39) |
Y23H |
possibly damaging |
Het |
Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
Hdac2 |
T |
C |
10: 36,865,232 (GRCm39) |
S149P |
probably damaging |
Het |
Igsf9b |
A |
T |
9: 27,245,418 (GRCm39) |
R1128S |
probably benign |
Het |
Invs |
A |
G |
4: 48,392,668 (GRCm39) |
H294R |
probably damaging |
Het |
Itgbl1 |
T |
A |
14: 124,065,211 (GRCm39) |
S122T |
possibly damaging |
Het |
Kansl3 |
G |
A |
1: 36,382,876 (GRCm39) |
S812F |
probably damaging |
Het |
Kcnt1 |
A |
T |
2: 25,791,358 (GRCm39) |
H567L |
probably benign |
Het |
Klhl30 |
G |
T |
1: 91,285,130 (GRCm39) |
V329F |
possibly damaging |
Het |
Krt33a |
A |
G |
11: 99,902,765 (GRCm39) |
I353T |
probably damaging |
Het |
Lrrc37 |
G |
T |
11: 103,507,116 (GRCm39) |
H1617Q |
unknown |
Het |
Lrrc7 |
T |
C |
3: 157,892,657 (GRCm39) |
T331A |
probably benign |
Het |
Megf10 |
G |
T |
18: 57,385,925 (GRCm39) |
V313F |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,395,978 (GRCm39) |
T1438A |
|
Het |
Myocd |
A |
G |
11: 65,109,429 (GRCm39) |
L114P |
probably damaging |
Het |
Or5b21 |
A |
T |
19: 12,839,141 (GRCm39) |
M1L |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,112,503 (GRCm39) |
E29G |
probably damaging |
Het |
Por |
G |
T |
5: 135,758,358 (GRCm39) |
A112S |
probably damaging |
Het |
Prkcq |
T |
C |
2: 11,304,221 (GRCm39) |
F651S |
probably damaging |
Het |
Selenoi |
A |
G |
5: 30,471,926 (GRCm39) |
I376V |
possibly damaging |
Het |
Setbp1 |
A |
C |
18: 78,899,707 (GRCm39) |
M1320R |
probably benign |
Het |
Skint6 |
A |
T |
4: 113,034,243 (GRCm39) |
|
probably null |
Het |
Tdrd6 |
T |
C |
17: 43,938,817 (GRCm39) |
T744A |
probably benign |
Het |
Tmem209 |
C |
T |
6: 30,508,469 (GRCm39) |
W61* |
probably null |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Top1 |
A |
T |
2: 160,554,762 (GRCm39) |
|
probably null |
Het |
Tradd |
T |
C |
8: 105,987,196 (GRCm39) |
K37E |
possibly damaging |
Het |
Ttc28 |
C |
A |
5: 111,371,995 (GRCm39) |
L846M |
probably damaging |
Het |
Umodl1 |
T |
A |
17: 31,207,031 (GRCm39) |
C807* |
probably null |
Het |
Upf2 |
T |
A |
2: 5,978,347 (GRCm39) |
S404T |
unknown |
Het |
Wscd1 |
T |
C |
11: 71,650,799 (GRCm39) |
L42P |
possibly 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 |
|
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 |
|
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'- GCTTTCTGGAGATTATAAGAGAACTG -3'
(R):5'- AAGCATTCTGATTCCATTTACACAG -3'
Sequencing Primer
(F):5'- GTCTCTCTGTATAGCTTTTATCA -3'
(R):5'- TGAGGGTATGTATATGTAGTACA -3'
|
Posted On |
2019-10-07 |