Incidental Mutation 'R2362:Eps15'
| ID |
247170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
|
| MMRRC Submission |
040343-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
109280268-109387817 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109361230 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 430
(V430A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030281]
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
|
| AlphaFold |
P42567 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030281
AA Change: V80A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
AA Change: V80A
| 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: V394A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: V394A
| 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: V394A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: V394A
| 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: V430A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: V430A
| 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: V394A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: V394A
| 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 |
0.0593 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
A |
T |
6: 132,627,479 |
M1K |
probably null |
Het |
| Aadat |
A |
G |
8: 60,532,298 |
|
probably benign |
Het |
| Acsm5 |
T |
C |
7: 119,528,426 |
|
probably benign |
Het |
| Avl9 |
A |
T |
6: 56,736,570 |
N271I |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,324,056 |
N636I |
probably damaging |
Het |
| Cdr2 |
T |
G |
7: 120,970,331 |
I62L |
possibly damaging |
Het |
| Clk3 |
T |
C |
9: 57,754,619 |
I382V |
possibly damaging |
Het |
| Ctsr |
T |
A |
13: 61,162,796 |
E45V |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,764,377 |
Y318C |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,731,751 |
A524V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,730,931 |
N578S |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,158,687 |
M817K |
probably benign |
Het |
| Dtx4 |
A |
G |
19: 12,492,535 |
V76A |
probably damaging |
Het |
| Fam160b2 |
A |
G |
14: 70,586,365 |
Y568H |
probably benign |
Het |
| Fxyd5 |
T |
C |
7: 31,036,471 |
N104S |
probably benign |
Het |
| Gm5155 |
T |
G |
7: 17,902,473 |
|
noncoding transcript |
Het |
| Ift122 |
A |
G |
6: 115,884,350 |
D193G |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,563,024 |
E542G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,447,658 |
|
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,552,678 |
Y234F |
possibly damaging |
Het |
| Olfr1477 |
A |
T |
19: 13,502,508 |
H55L |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,977,123 |
F429S |
probably damaging |
Het |
| Polr3e |
C |
G |
7: 120,942,564 |
D623E |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,694,272 |
Y1494H |
probably damaging |
Het |
| Rbm14 |
T |
C |
19: 4,801,707 |
|
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,510,017 |
D544G |
probably benign |
Het |
| Slc10a7 |
A |
G |
8: 78,509,632 |
I20V |
probably damaging |
Het |
| Sort1 |
C |
T |
3: 108,346,665 |
T549I |
possibly damaging |
Het |
| Stambpl1 |
G |
A |
19: 34,236,354 |
V328I |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,406,364 |
L528P |
probably damaging |
Het |
| Wbp11 |
A |
T |
6: 136,824,332 |
M63K |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,634,836 |
I1178N |
probably benign |
Het |
|
| Other mutations in Eps15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Eps15
|
APN |
4 |
109309149 |
missense |
probably damaging |
0.99 |
|
IGL01372:Eps15
|
APN |
4 |
109322106 |
missense |
probably damaging |
1.00 |
|
IGL01642:Eps15
|
APN |
4 |
109366473 |
missense |
probably benign |
0.00 |
|
IGL02207:Eps15
|
APN |
4 |
109304748 |
splice site |
probably benign |
|
|
IGL02394:Eps15
|
APN |
4 |
109312965 |
missense |
probably damaging |
1.00 |
|
IGL02755:Eps15
|
APN |
4 |
109329698 |
missense |
probably benign |
0.17 |
|
R0117:Eps15
|
UTSW |
4 |
109382819 |
missense |
probably damaging |
0.96 |
|
R0414:Eps15
|
UTSW |
4 |
109366480 |
missense |
probably damaging |
0.96 |
|
R0928:Eps15
|
UTSW |
4 |
109312963 |
missense |
possibly damaging |
0.95 |
|
R1545:Eps15
|
UTSW |
4 |
109312329 |
missense |
probably benign |
0.00 |
|
R1581:Eps15
|
UTSW |
4 |
109363186 |
missense |
probably benign |
0.15 |
|
R1627:Eps15
|
UTSW |
4 |
109370557 |
missense |
probably damaging |
1.00 |
|
R1756:Eps15
|
UTSW |
4 |
109312918 |
nonsense |
probably null |
|
|
R1799:Eps15
|
UTSW |
4 |
109382837 |
missense |
probably damaging |
1.00 |
|
R1906:Eps15
|
UTSW |
4 |
109324201 |
missense |
possibly damaging |
0.89 |
|
R1916:Eps15
|
UTSW |
4 |
109368974 |
missense |
probably damaging |
1.00 |
|
R2042:Eps15
|
UTSW |
4 |
109304767 |
missense |
probably damaging |
0.98 |
|
R2046:Eps15
|
UTSW |
4 |
109370596 |
missense |
probably damaging |
1.00 |
|
R2163:Eps15
|
UTSW |
4 |
109370669 |
missense |
probably damaging |
0.98 |
|
R2213:Eps15
|
UTSW |
4 |
109361220 |
missense |
probably damaging |
1.00 |
|
R3151:Eps15
|
UTSW |
4 |
109366222 |
missense |
probably benign |
0.02 |
|
R3712:Eps15
|
UTSW |
4 |
109309177 |
missense |
probably damaging |
1.00 |
|
R3727:Eps15
|
UTSW |
4 |
109370685 |
splice site |
probably benign |
|
|
R4361:Eps15
|
UTSW |
4 |
109380031 |
critical splice donor site |
probably null |
|
|
R4381:Eps15
|
UTSW |
4 |
109366530 |
unclassified |
probably benign |
|
|
R4466:Eps15
|
UTSW |
4 |
109366530 |
unclassified |
probably benign |
|
|
R4740:Eps15
|
UTSW |
4 |
109343190 |
missense |
probably damaging |
1.00 |
|
R4797:Eps15
|
UTSW |
4 |
109366530 |
unclassified |
probably benign |
|
|
R4799:Eps15
|
UTSW |
4 |
109366530 |
unclassified |
probably benign |
|
|
R4801:Eps15
|
UTSW |
4 |
109324217 |
missense |
possibly damaging |
0.95 |
|
R4802:Eps15
|
UTSW |
4 |
109324217 |
missense |
possibly damaging |
0.95 |
|
R4864:Eps15
|
UTSW |
4 |
109366530 |
unclassified |
probably benign |
|
|
R4954:Eps15
|
UTSW |
4 |
109370678 |
splice site |
probably null |
|
|
R5134:Eps15
|
UTSW |
4 |
109366530 |
unclassified |
probably benign |
|
|
R5386:Eps15
|
UTSW |
4 |
109321225 |
missense |
possibly damaging |
0.48 |
|
R5768:Eps15
|
UTSW |
4 |
109363176 |
splice site |
probably null |
|
|
R5870:Eps15
|
UTSW |
4 |
109361310 |
missense |
probably damaging |
0.98 |
|
R6245:Eps15
|
UTSW |
4 |
109382866 |
missense |
possibly damaging |
0.66 |
|
R6290:Eps15
|
UTSW |
4 |
109363198 |
missense |
probably benign |
0.37 |
|
R6291:Eps15
|
UTSW |
4 |
109305703 |
frame shift |
probably null |
|
|
R6493:Eps15
|
UTSW |
4 |
109368948 |
missense |
probably damaging |
1.00 |
|
R6813:Eps15
|
UTSW |
4 |
109280402 |
splice site |
probably null |
|
|
R6885:Eps15
|
UTSW |
4 |
109309164 |
missense |
probably damaging |
0.99 |
|
R6913:Eps15
|
UTSW |
4 |
109361230 |
missense |
probably benign |
0.06 |
|
R7362:Eps15
|
UTSW |
4 |
109366242 |
critical splice donor site |
probably null |
|
|
R7461:Eps15
|
UTSW |
4 |
109329725 |
missense |
probably damaging |
1.00 |
|
R7613:Eps15
|
UTSW |
4 |
109329725 |
missense |
probably damaging |
1.00 |
|
R7923:Eps15
|
UTSW |
4 |
109315872 |
missense |
possibly damaging |
0.90 |
|
R7966:Eps15
|
UTSW |
4 |
109321143 |
missense |
probably damaging |
0.98 |
|
R8792:Eps15
|
UTSW |
4 |
109305711 |
missense |
probably benign |
0.00 |
|
R8826:Eps15
|
UTSW |
4 |
109312308 |
missense |
possibly damaging |
0.82 |
|
R9296:Eps15
|
UTSW |
4 |
109315892 |
missense |
possibly damaging |
0.72 |
|
R9369:Eps15
|
UTSW |
4 |
109382837 |
missense |
probably damaging |
1.00 |
|
R9663:Eps15
|
UTSW |
4 |
109322073 |
missense |
probably benign |
0.04 |
|
X0023:Eps15
|
UTSW |
4 |
109343357 |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGGTCACTTGAAGACTGC -3'
(R):5'- AGTGCCACTAACAAGCAGG -3'
Sequencing Primer
(F):5'- ATCAAGTGCTTTAGTCCTCCAATAC -3'
(R):5'- CACTAACAAGCAGGCAATGTTTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation