Incidental Mutation 'R9663:Eps15'
| ID |
727671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9663 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 109179270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 219
(V219I)
|
| 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 benign
Transcript: ENSMUST00000102729
AA Change: V219I
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: V219I
| 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: V219I
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: V219I
| 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: V255I
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: V255I
| 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: V219I
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: V219I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh6 |
T |
C |
7: 30,013,371 (GRCm39) |
S161P |
probably damaging |
Het |
| Alppl2 |
T |
A |
1: 87,015,753 (GRCm39) |
H297L |
probably benign |
Het |
| Angptl2 |
A |
G |
2: 33,118,231 (GRCm39) |
R2G |
probably benign |
Het |
| Arhgef15 |
T |
A |
11: 68,845,255 (GRCm39) |
N199I |
probably damaging |
Het |
| Asns |
A |
T |
6: 7,680,132 (GRCm39) |
I328K |
probably damaging |
Het |
| Atad2 |
G |
T |
15: 57,971,540 (GRCm39) |
T734K |
probably benign |
Het |
| Capn3 |
A |
C |
2: 120,316,859 (GRCm39) |
M283L |
probably benign |
Het |
| Catsperd |
T |
A |
17: 56,960,751 (GRCm39) |
C384S |
possibly damaging |
Het |
| Cd101 |
A |
G |
3: 100,911,222 (GRCm39) |
V816A |
probably benign |
Het |
| Cd5 |
T |
G |
19: 10,703,858 (GRCm39) |
D68A |
probably benign |
Het |
| Ceacam18 |
G |
A |
7: 43,288,764 (GRCm39) |
V172M |
probably damaging |
Het |
| Cfap100 |
G |
A |
6: 90,386,328 (GRCm39) |
R276C |
|
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Creb3l2 |
A |
G |
6: 37,356,926 (GRCm39) |
V47A |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,933,654 (GRCm39) |
E1017D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,011,461 (GRCm39) |
D116G |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,079,070 (GRCm39) |
|
probably null |
Het |
| Dcaf13 |
C |
T |
15: 38,982,178 (GRCm39) |
T48I |
possibly damaging |
Het |
| Dsc2 |
T |
A |
18: 20,171,205 (GRCm39) |
D598V |
probably damaging |
Het |
| Dtx3 |
G |
A |
10: 127,028,518 (GRCm39) |
T237I |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,764 (GRCm39) |
E432G |
possibly damaging |
Het |
| Ext1 |
A |
G |
15: 53,208,456 (GRCm39) |
S102P |
probably damaging |
Het |
| Fam151a |
A |
T |
4: 106,604,894 (GRCm39) |
I419L |
possibly damaging |
Het |
| Fam89a |
C |
T |
8: 125,478,436 (GRCm39) |
G38D |
probably damaging |
Het |
| Fdx2 |
G |
T |
9: 20,984,717 (GRCm39) |
A29E |
probably benign |
Het |
| Hhla1 |
G |
A |
15: 65,813,630 (GRCm39) |
T234I |
probably damaging |
Het |
| Hspb6 |
G |
A |
7: 30,253,714 (GRCm39) |
V76M |
probably damaging |
Het |
| Ighmbp2 |
C |
A |
19: 3,315,325 (GRCm39) |
K698N |
probably benign |
Het |
| Invs |
A |
G |
4: 48,426,218 (GRCm39) |
I1002V |
probably damaging |
Het |
| Itga8 |
A |
C |
2: 12,196,580 (GRCm39) |
F612L |
probably benign |
Het |
| Kcnma1 |
G |
T |
14: 24,053,897 (GRCm39) |
F99L |
probably benign |
Het |
| Klf11 |
A |
G |
12: 24,705,731 (GRCm39) |
Y395C |
probably damaging |
Het |
| Kplce |
A |
T |
3: 92,776,283 (GRCm39) |
N133K |
probably benign |
Het |
| Lama4 |
G |
A |
10: 38,923,944 (GRCm39) |
E451K |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,221,884 (GRCm39) |
Y342C |
probably damaging |
Het |
| Lrrc18 |
A |
T |
14: 32,731,021 (GRCm39) |
M187L |
probably benign |
Het |
| Luc7l3 |
A |
G |
11: 94,187,756 (GRCm39) |
S311P |
unknown |
Het |
| Lypd3 |
T |
A |
7: 24,338,349 (GRCm39) |
S133R |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,859,699 (GRCm39) |
S1233T |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,857,463 (GRCm39) |
E1062D |
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,221,098 (GRCm39) |
K942E |
probably damaging |
Het |
| Nedd9 |
T |
C |
13: 41,469,941 (GRCm39) |
D404G |
probably damaging |
Het |
| Nisch |
C |
A |
14: 30,895,625 (GRCm39) |
A1022S |
probably damaging |
Het |
| Nkx3-1 |
A |
G |
14: 69,429,321 (GRCm39) |
D113G |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,860,165 (GRCm39) |
F107L |
probably benign |
Het |
| Or6c1b |
A |
T |
10: 129,272,929 (GRCm39) |
I83F |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,497 (GRCm39) |
F299S |
probably benign |
Het |
| Otub1 |
C |
T |
19: 7,176,813 (GRCm39) |
G181D |
probably damaging |
Het |
| Palb2 |
T |
C |
7: 121,726,304 (GRCm39) |
H522R |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,459 (GRCm39) |
D570V |
probably damaging |
Het |
| Phyhd1 |
A |
G |
2: 30,171,070 (GRCm39) |
N271S |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,498,291 (GRCm39) |
Q50R |
probably benign |
Het |
| Rfx2 |
C |
A |
17: 57,087,895 (GRCm39) |
V499L |
possibly damaging |
Het |
| Sema5a |
C |
T |
15: 32,673,546 (GRCm39) |
Q795* |
probably null |
Het |
| Sf3a2 |
A |
G |
10: 80,637,309 (GRCm39) |
N49S |
probably damaging |
Het |
| Sft2d1 |
T |
G |
17: 8,545,812 (GRCm39) |
S156A |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc25a33 |
T |
A |
4: 149,836,913 (GRCm39) |
T144S |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,818,818 (GRCm39) |
K6M |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Tfap2c |
G |
A |
2: 172,399,213 (GRCm39) |
D487N |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,949,897 (GRCm39) |
R624Q |
probably damaging |
Het |
| Thsd4 |
A |
G |
9: 59,890,026 (GRCm39) |
F857S |
probably damaging |
Het |
| Tnfrsf4 |
A |
G |
4: 156,100,884 (GRCm39) |
I272V |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,220,924 (GRCm39) |
R45C |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,756,320 (GRCm39) |
S1167P |
probably benign |
Het |
| Ttc14 |
A |
T |
3: 33,855,537 (GRCm39) |
T161S |
probably benign |
Het |
| Ttll1 |
A |
G |
15: 83,380,579 (GRCm39) |
V262A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ufsp1 |
C |
A |
5: 137,293,545 (GRCm39) |
P165Q |
possibly damaging |
Het |
| Usp19 |
T |
G |
9: 108,371,894 (GRCm39) |
L390R |
probably damaging |
Het |
| Vegfc |
G |
T |
8: 54,634,338 (GRCm39) |
C339F |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,463,549 (GRCm39) |
N428K |
possibly damaging |
Het |
| Wdr11 |
T |
G |
7: 129,210,647 (GRCm39) |
V517G |
probably damaging |
Het |
| Xkr4 |
T |
A |
1: 3,286,519 (GRCm39) |
D557V |
probably benign |
Het |
| Zan |
C |
A |
5: 137,379,119 (GRCm39) |
C5327F |
unknown |
Het |
| Zfp770 |
A |
T |
2: 114,026,949 (GRCm39) |
N373K |
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 |
|
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 |
|
X0023:Eps15
|
UTSW |
4 |
109,200,554 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTAGCCTGGCATCTGTAAGTC -3'
(R):5'- AAACCATGCCTGAGGTCTGG -3'
Sequencing Primer
(F):5'- AGCCTGGCATCTGTAAGTCTTAACTG -3'
(R):5'- CAACCACACATATACACGTTTTTGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation