Incidental Mutation 'R2213:Eps15'
ID |
239510 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eps15
|
Ensembl Gene |
ENSMUSG00000028552 |
Gene Name |
epidermal growth factor receptor pathway substrate 15 |
Synonyms |
2410112D09Rik |
MMRRC Submission |
040215-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2213 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109218417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 391
(K391E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135034
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030281]
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
|
AlphaFold |
P42567 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030281
AA Change: K77E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030281 Gene: ENSMUSG00000028552 AA Change: K77E
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 damaging
Transcript: ENSMUST00000102729
AA Change: K391E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099790 Gene: ENSMUSG00000028552 AA Change: K391E
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 damaging
Transcript: ENSMUST00000132165
AA Change: K391E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118949 Gene: ENSMUSG00000028552 AA Change: K391E
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: K427E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135270 Gene: ENSMUSG00000028552 AA Change: K427E
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 damaging
Transcript: ENSMUST00000176251
AA Change: K391E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135034 Gene: ENSMUSG00000028552 AA Change: K391E
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
T |
C |
13: 4,326,247 (GRCm39) |
D78G |
probably damaging |
Het |
Anxa1 |
C |
T |
19: 20,360,239 (GRCm39) |
R124H |
probably damaging |
Het |
Arhgef4 |
G |
A |
1: 34,846,230 (GRCm39) |
|
probably null |
Het |
C87436 |
G |
A |
6: 86,422,455 (GRCm39) |
V10I |
probably benign |
Het |
Ces1a |
G |
T |
8: 93,751,853 (GRCm39) |
P427Q |
probably damaging |
Het |
Cpm |
T |
C |
10: 117,495,744 (GRCm39) |
Y78H |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,683,843 (GRCm39) |
T1663I |
possibly damaging |
Het |
Cul7 |
T |
C |
17: 46,962,398 (GRCm39) |
F10L |
probably damaging |
Het |
Cyp2j5 |
T |
C |
4: 96,547,852 (GRCm39) |
N130S |
probably benign |
Het |
Dclk1 |
G |
A |
3: 55,387,854 (GRCm39) |
C100Y |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,585,691 (GRCm39) |
L135P |
probably damaging |
Het |
Dixdc1 |
A |
G |
9: 50,613,245 (GRCm39) |
S211P |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,460,485 (GRCm39) |
K970N |
probably benign |
Het |
Fabp9 |
A |
G |
3: 10,259,860 (GRCm39) |
V51A |
probably damaging |
Het |
Flg |
T |
C |
3: 93,200,335 (GRCm39) |
|
probably benign |
Het |
Flnb |
AAGGAG |
AAG |
14: 7,881,652 (GRCm38) |
|
probably benign |
Het |
Fscb |
A |
T |
12: 64,520,890 (GRCm39) |
I192N |
possibly damaging |
Het |
Galntl5 |
A |
G |
5: 25,422,527 (GRCm39) |
I333V |
probably benign |
Het |
Gcnt3 |
A |
T |
9: 69,941,989 (GRCm39) |
V193E |
probably benign |
Het |
Gle1 |
T |
C |
2: 29,839,313 (GRCm39) |
F535S |
probably damaging |
Het |
Gpr87 |
A |
T |
3: 59,086,465 (GRCm39) |
S347T |
probably damaging |
Het |
Gstm2 |
C |
T |
3: 107,893,409 (GRCm39) |
R18H |
probably damaging |
Het |
H1f7 |
T |
A |
15: 98,154,219 (GRCm39) |
Q310L |
unknown |
Het |
Haus6 |
C |
T |
4: 86,500,229 (GRCm39) |
E927K |
possibly damaging |
Het |
Hunk |
A |
G |
16: 90,229,505 (GRCm39) |
N122S |
probably damaging |
Het |
Itih4 |
T |
A |
14: 30,612,670 (GRCm39) |
V232E |
probably damaging |
Het |
Jag1 |
G |
T |
2: 136,931,812 (GRCm39) |
D586E |
probably benign |
Het |
Klk1b1 |
T |
C |
7: 43,619,905 (GRCm39) |
S155P |
probably damaging |
Het |
Lama1 |
G |
T |
17: 68,084,029 (GRCm39) |
G1424* |
probably null |
Het |
Lrp1 |
T |
A |
10: 127,376,571 (GRCm39) |
N4279I |
probably damaging |
Het |
Lrrc43 |
G |
A |
5: 123,641,640 (GRCm39) |
V525I |
possibly damaging |
Het |
Lrrc4c |
G |
A |
2: 97,460,816 (GRCm39) |
V481M |
probably benign |
Het |
Mecr |
T |
A |
4: 131,581,126 (GRCm39) |
|
probably null |
Het |
Megf10 |
T |
A |
18: 57,421,081 (GRCm39) |
Y906* |
probably null |
Het |
Mpdz |
A |
G |
4: 81,228,409 (GRCm39) |
F1319L |
probably damaging |
Het |
Mtf2 |
A |
G |
5: 108,248,780 (GRCm39) |
E364G |
possibly damaging |
Het |
Nelfe |
T |
A |
17: 35,072,859 (GRCm39) |
D160E |
probably benign |
Het |
Nin |
A |
G |
12: 70,092,128 (GRCm39) |
L727P |
probably damaging |
Het |
Npat |
A |
G |
9: 53,463,681 (GRCm39) |
T155A |
probably benign |
Het |
Nup58 |
T |
C |
14: 60,476,945 (GRCm39) |
D242G |
probably benign |
Het |
Or4a78 |
A |
T |
2: 89,497,891 (GRCm39) |
L113Q |
probably damaging |
Het |
Pnlip |
T |
C |
19: 58,662,202 (GRCm39) |
V116A |
probably benign |
Het |
Prl7a2 |
T |
A |
13: 27,849,051 (GRCm39) |
L79F |
probably benign |
Het |
Rbm25 |
A |
T |
12: 83,722,856 (GRCm39) |
I760L |
probably benign |
Het |
Rbms3 |
A |
T |
9: 116,788,534 (GRCm39) |
|
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rps10 |
C |
A |
17: 27,849,473 (GRCm39) |
|
probably benign |
Het |
Slc35e4 |
T |
C |
11: 3,863,159 (GRCm39) |
E10G |
possibly damaging |
Het |
Smad2 |
A |
T |
18: 76,437,697 (GRCm39) |
T434S |
probably damaging |
Het |
Sox30 |
C |
T |
11: 45,875,679 (GRCm39) |
S477F |
probably damaging |
Het |
Speer4a3 |
G |
T |
5: 26,158,175 (GRCm39) |
T59K |
probably benign |
Het |
Stat4 |
A |
T |
1: 52,053,014 (GRCm39) |
D65V |
probably damaging |
Het |
Strip2 |
A |
G |
6: 29,931,147 (GRCm39) |
D366G |
probably damaging |
Het |
Syngap1 |
C |
A |
17: 27,172,043 (GRCm39) |
R84S |
probably damaging |
Het |
Synpo2l |
A |
G |
14: 20,710,734 (GRCm39) |
Y629H |
probably damaging |
Het |
Taf4 |
A |
T |
2: 179,577,683 (GRCm39) |
|
probably null |
Het |
Ttc21a |
A |
G |
9: 119,769,527 (GRCm39) |
H68R |
probably benign |
Het |
Txndc8 |
T |
A |
4: 57,984,199 (GRCm39) |
Q144L |
probably benign |
Het |
Tyr |
T |
G |
7: 87,142,086 (GRCm39) |
Q158P |
probably damaging |
Het |
Uchl3 |
T |
A |
14: 101,904,106 (GRCm39) |
|
probably null |
Het |
Vwa5b1 |
T |
C |
4: 138,332,123 (GRCm39) |
K298R |
probably benign |
Het |
Wrn |
T |
C |
8: 33,747,043 (GRCm39) |
N891S |
probably benign |
Het |
Ylpm1 |
A |
G |
12: 85,116,492 (GRCm39) |
S2125G |
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 |
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 |
|
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'- TCAAGTGCTTTAGTCCTCCAATAC -3'
(R):5'- AACGCCTTCATAAAGCAGCTG -3'
Sequencing Primer
(F):5'- TGCTTTAGTCCTCCAATACAAAATAC -3'
(R):5'- CACTAACAAGCAGGCAATGTTTTC -3'
|
Posted On |
2014-10-15 |