Incidental Mutation 'IGL02207:Eps15'
| ID |
284567 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02207
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 109161945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
[ENSMUST00000177089]
|
| AlphaFold |
P42567 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102729
|
| SMART Domains |
Protein: ENSMUSP00000099790
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000118949
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000141751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175776
|
| SMART Domains |
Protein: ENSMUSP00000135270
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
|
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 |
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 |
|
| Coding Region Coverage |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
A |
G |
2: 26,992,993 (GRCm39) |
E702G |
probably damaging |
Het |
| Adgre5 |
T |
C |
8: 84,454,913 (GRCm39) |
T260A |
probably damaging |
Het |
| Agap3 |
A |
T |
5: 24,704,934 (GRCm39) |
T660S |
probably benign |
Het |
| Amotl2 |
A |
T |
9: 102,601,896 (GRCm39) |
E380V |
probably damaging |
Het |
| Ap4e1 |
A |
G |
2: 126,853,736 (GRCm39) |
E58G |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,120,906 (GRCm39) |
A713V |
probably benign |
Het |
| B4galt2 |
T |
C |
4: 117,738,718 (GRCm39) |
D33G |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,658,639 (GRCm39) |
S212T |
probably benign |
Het |
| Ccl26 |
A |
G |
5: 135,592,224 (GRCm39) |
Y38H |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,202,261 (GRCm39) |
S339C |
probably benign |
Het |
| Cd55 |
A |
G |
1: 130,380,156 (GRCm39) |
V274A |
possibly damaging |
Het |
| Cenpw |
T |
G |
10: 30,074,577 (GRCm39) |
|
probably null |
Het |
| Cert1 |
T |
C |
13: 96,761,300 (GRCm39) |
|
probably null |
Het |
| Chrnb4 |
T |
C |
9: 54,942,500 (GRCm39) |
D258G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,678,819 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2b23 |
C |
A |
7: 26,381,180 (GRCm39) |
R59L |
probably damaging |
Het |
| Edar |
G |
T |
10: 58,446,343 (GRCm39) |
T194K |
probably damaging |
Het |
| Edem3 |
A |
G |
1: 151,684,111 (GRCm39) |
I733V |
possibly damaging |
Het |
| Elmod2 |
T |
C |
8: 84,048,135 (GRCm39) |
Y109C |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,005,412 (GRCm39) |
V1937A |
probably benign |
Het |
| Fdx2 |
T |
A |
9: 20,979,415 (GRCm39) |
|
probably null |
Het |
| Flg2 |
A |
T |
3: 93,127,435 (GRCm39) |
I2116F |
unknown |
Het |
| Gm15091 |
A |
G |
X: 148,760,462 (GRCm39) |
D424G |
possibly damaging |
Het |
| Gm16380 |
T |
A |
9: 53,791,823 (GRCm39) |
|
noncoding transcript |
Het |
| Gpn2 |
G |
A |
4: 133,311,947 (GRCm39) |
V60M |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,911,214 (GRCm39) |
R1044K |
probably damaging |
Het |
| H2-D1 |
T |
A |
17: 35,482,390 (GRCm39) |
S37T |
possibly damaging |
Het |
| Havcr1 |
C |
T |
11: 46,669,403 (GRCm39) |
A294V |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,135,023 (GRCm39) |
|
probably null |
Het |
| Ift140 |
A |
G |
17: 25,274,572 (GRCm39) |
Y748C |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,627,326 (GRCm39) |
T242A |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,419,536 (GRCm39) |
|
probably null |
Het |
| Kif18a |
A |
T |
2: 109,127,052 (GRCm39) |
I329L |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,758,979 (GRCm39) |
I957F |
probably damaging |
Het |
| Krt1 |
A |
G |
15: 101,757,051 (GRCm39) |
I282T |
possibly damaging |
Het |
| Lamb1 |
T |
G |
12: 31,379,434 (GRCm39) |
V1768G |
probably damaging |
Het |
| Nek9 |
A |
T |
12: 85,350,257 (GRCm39) |
L939* |
probably null |
Het |
| Nfe2l2 |
A |
G |
2: 75,508,869 (GRCm39) |
L122P |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,103,431 (GRCm39) |
M270V |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Nrde2 |
T |
C |
12: 100,097,190 (GRCm39) |
Y870C |
probably benign |
Het |
| Nsmce2 |
A |
G |
15: 59,287,927 (GRCm39) |
M71V |
probably benign |
Het |
| Ocstamp |
T |
C |
2: 165,239,583 (GRCm39) |
H201R |
possibly damaging |
Het |
| Oog4 |
T |
C |
4: 143,165,510 (GRCm39) |
I212M |
probably benign |
Het |
| Or11g2 |
G |
A |
14: 50,856,015 (GRCm39) |
G112D |
probably damaging |
Het |
| Or12e7 |
A |
G |
2: 87,287,794 (GRCm39) |
D95G |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,876,628 (GRCm39) |
T99A |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,773,741 (GRCm39) |
M536K |
probably benign |
Het |
| Pdyn |
A |
T |
2: 129,530,438 (GRCm39) |
L77H |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,290,837 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
A |
G |
2: 135,229,091 (GRCm39) |
E1105G |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,443,525 (GRCm39) |
D743E |
probably damaging |
Het |
| Rdh14 |
G |
A |
12: 10,444,712 (GRCm39) |
V188I |
possibly damaging |
Het |
| Scd3 |
T |
C |
19: 44,204,028 (GRCm39) |
V72A |
possibly damaging |
Het |
| Shld1 |
A |
T |
2: 132,533,866 (GRCm39) |
|
probably benign |
Het |
| Slc25a27 |
G |
A |
17: 43,972,575 (GRCm39) |
R104W |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,704,640 (GRCm39) |
D394G |
possibly damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,936,158 (GRCm39) |
I309N |
possibly damaging |
Het |
| Snx29 |
T |
G |
16: 11,556,216 (GRCm39) |
M407R |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,662,363 (GRCm39) |
|
probably null |
Het |
| Syn1 |
T |
C |
X: 20,731,376 (GRCm39) |
Q321R |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,905,091 (GRCm39) |
D602V |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,523,323 (GRCm39) |
I1585F |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,410,785 (GRCm39) |
|
probably benign |
Het |
| Trav6-2 |
G |
A |
14: 52,904,889 (GRCm39) |
V8M |
possibly damaging |
Het |
| Unc119b |
A |
G |
5: 115,272,813 (GRCm39) |
S53P |
probably benign |
Het |
| Vmp1 |
T |
A |
11: 86,498,019 (GRCm39) |
I299F |
possibly damaging |
Het |
| Xpot |
T |
C |
10: 121,449,485 (GRCm39) |
Y194C |
probably damaging |
Het |
| Zbtb10 |
T |
A |
3: 9,345,525 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation