Incidental Mutation 'R0928:Eps15'
ID |
80626 |
Institutional Source |
Beutler Lab
|
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 # |
R0928 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109170160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 154
(V154A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
[ENSMUST00000177089]
|
AlphaFold |
P42567 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102729
AA Change: V154A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099790 Gene: ENSMUSG00000028552 AA Change: V154A
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 |
possibly damaging
Transcript: ENSMUST00000132165
AA Change: V154A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000118949 Gene: ENSMUSG00000028552 AA Change: V154A
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 |
possibly damaging
Transcript: ENSMUST00000175776
AA Change: V154A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000135270 Gene: ENSMUSG00000028552 AA Change: V154A
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: V154A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135034 Gene: ENSMUSG00000028552 AA Change: V154A
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 |
- 1x: 99.2%
- 3x: 98.1%
- 10x: 93.0%
- 20x: 75.6%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,388,333 (GRCm39) |
D179V |
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,207,849 (GRCm39) |
|
probably null |
Het |
Adad1 |
G |
A |
3: 37,130,889 (GRCm39) |
|
probably null |
Het |
Apobec4 |
T |
C |
1: 152,632,028 (GRCm39) |
Y19H |
probably damaging |
Het |
Bco2 |
T |
A |
9: 50,457,231 (GRCm39) |
T104S |
probably damaging |
Het |
Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
Ccdc168 |
C |
A |
1: 44,096,388 (GRCm39) |
S1570I |
possibly damaging |
Het |
Ccs |
T |
C |
19: 4,875,988 (GRCm39) |
E184G |
probably damaging |
Het |
Cfap70 |
T |
G |
14: 20,493,987 (GRCm39) |
K97N |
probably damaging |
Het |
Cracdl |
T |
C |
1: 37,663,663 (GRCm39) |
D745G |
possibly damaging |
Het |
Daam2 |
T |
C |
17: 49,795,255 (GRCm39) |
I313V |
probably benign |
Het |
Dach1 |
T |
C |
14: 98,153,268 (GRCm39) |
S467G |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,297 (GRCm39) |
S2122P |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,629,274 (GRCm39) |
D1427V |
probably damaging |
Het |
Dnai1 |
T |
C |
4: 41,602,566 (GRCm39) |
F97L |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,243,306 (GRCm39) |
|
probably null |
Het |
En2 |
A |
T |
5: 28,375,329 (GRCm39) |
K291* |
probably null |
Het |
Etnk1 |
A |
G |
6: 143,130,429 (GRCm39) |
I183V |
probably benign |
Het |
Fcrlb |
A |
T |
1: 170,735,509 (GRCm39) |
V255D |
possibly damaging |
Het |
Fry |
A |
T |
5: 150,360,549 (GRCm39) |
E52V |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,947,671 (GRCm39) |
|
probably null |
Het |
Gm57858 |
A |
C |
3: 36,079,515 (GRCm39) |
N258K |
possibly damaging |
Het |
Gtf2h4 |
T |
C |
17: 35,981,777 (GRCm39) |
Y152C |
probably damaging |
Het |
Hao1 |
C |
A |
2: 134,347,536 (GRCm39) |
L256F |
possibly damaging |
Het |
Helz |
T |
A |
11: 107,517,519 (GRCm39) |
I685K |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Izumo2 |
A |
T |
7: 44,364,847 (GRCm39) |
I171F |
possibly damaging |
Het |
Krt87 |
C |
A |
15: 101,389,161 (GRCm39) |
C57F |
probably benign |
Het |
Mapkbp1 |
A |
G |
2: 119,845,849 (GRCm39) |
H400R |
probably benign |
Het |
Megf6 |
T |
A |
4: 154,261,504 (GRCm39) |
V43E |
probably damaging |
Het |
Mmut |
T |
C |
17: 41,248,174 (GRCm39) |
I67T |
probably benign |
Het |
Ninl |
A |
T |
2: 150,805,395 (GRCm39) |
V396E |
probably damaging |
Het |
Nvl |
A |
T |
1: 180,921,467 (GRCm39) |
V844E |
probably benign |
Het |
Or2b6 |
C |
T |
13: 21,823,126 (GRCm39) |
C189Y |
probably damaging |
Het |
P2rx3 |
A |
T |
2: 84,865,642 (GRCm39) |
M1K |
probably null |
Het |
Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
Ppp3r2 |
C |
A |
4: 49,681,439 (GRCm39) |
|
probably null |
Het |
Prmt6 |
C |
T |
3: 110,157,998 (GRCm39) |
G97D |
probably damaging |
Het |
Prmt9 |
T |
C |
8: 78,307,805 (GRCm39) |
V823A |
probably damaging |
Het |
Skic3 |
T |
G |
13: 76,261,711 (GRCm39) |
L142W |
probably damaging |
Het |
Skint11 |
C |
A |
4: 114,101,798 (GRCm39) |
D79E |
possibly damaging |
Het |
Slc17a8 |
T |
A |
10: 89,434,545 (GRCm39) |
H194L |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,032,573 (GRCm39) |
I293F |
possibly damaging |
Het |
Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
Tm9sf1 |
T |
C |
14: 55,873,914 (GRCm39) |
D528G |
probably damaging |
Het |
Tpbpb |
C |
T |
13: 61,049,989 (GRCm39) |
V47I |
probably benign |
Het |
Ttn |
G |
T |
2: 76,737,876 (GRCm39) |
|
probably benign |
Het |
Usp28 |
T |
G |
9: 48,942,191 (GRCm39) |
S341A |
possibly damaging |
Het |
Vwa5a |
T |
C |
9: 38,639,303 (GRCm39) |
Y345H |
probably damaging |
Het |
Wdr11 |
C |
A |
7: 129,208,377 (GRCm39) |
D377E |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,991,775 (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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGATCTTCAAAGCATCCCATCTCTTGC -3'
(R):5'- gcctGTACTCATCTGTacacacaccat -3'
Sequencing Primer
(F):5'- GCTTTGATTCTAACTCAACAGCAG -3'
(R):5'- cacacaccatacacacacac -3'
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Posted On |
2013-11-07 |