Incidental Mutation 'R7362:Eps15'
| ID |
571403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| MMRRC Submission |
045375-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 109223439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030281]
[ENSMUST00000102729]
[ENSMUST00000102729]
[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 null
Transcript: ENSMUST00000030281
|
| SMART Domains |
Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
| 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 null
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 null
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 null
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 null
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 |
probably null
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: ENSMUST00000177192
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
C |
T |
8: 13,295,534 (GRCm39) |
R193K |
probably damaging |
Het |
| Aoc1 |
G |
T |
6: 48,882,345 (GRCm39) |
V74L |
probably benign |
Het |
| Bfsp1 |
G |
C |
2: 143,668,795 (GRCm39) |
P601A |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,385,591 (GRCm39) |
K108T |
probably benign |
Het |
| Btbd18 |
C |
T |
2: 84,491,887 (GRCm39) |
Q23* |
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,787,864 (GRCm39) |
I227M |
unknown |
Het |
| Cd151 |
G |
A |
7: 141,049,502 (GRCm39) |
V70I |
probably benign |
Het |
| Cdh10 |
A |
G |
15: 18,899,780 (GRCm39) |
T36A |
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,680,211 (GRCm39) |
T380A |
probably benign |
Het |
| Csmd3 |
A |
C |
15: 47,619,388 (GRCm39) |
S1829A |
possibly damaging |
Het |
| Dgat2 |
A |
T |
7: 98,803,843 (GRCm39) |
H359Q |
probably damaging |
Het |
| Dhdds |
T |
C |
4: 133,698,441 (GRCm39) |
T298A |
probably benign |
Het |
| Egfem1 |
A |
G |
3: 29,206,069 (GRCm39) |
Q102R |
probably benign |
Het |
| Ern1 |
T |
A |
11: 106,327,949 (GRCm39) |
D61V |
probably damaging |
Het |
| Fcamr |
G |
A |
1: 130,741,760 (GRCm39) |
R511Q |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,987,255 (GRCm39) |
V213A |
probably benign |
Het |
| Gsx2 |
A |
G |
5: 75,236,765 (GRCm39) |
D115G |
possibly damaging |
Het |
| Hoxd3 |
A |
G |
2: 74,574,563 (GRCm39) |
I70V |
possibly damaging |
Het |
| Inpp5a |
A |
G |
7: 139,158,296 (GRCm39) |
I408V |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,383,208 (GRCm39) |
D759E |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,348,335 (GRCm39) |
T2787P |
unknown |
Het |
| Mier3 |
G |
A |
13: 111,841,783 (GRCm39) |
G115S |
possibly damaging |
Het |
| Mkln1 |
T |
C |
6: 31,445,103 (GRCm39) |
I333T |
probably benign |
Het |
| Myt1 |
T |
A |
2: 181,439,033 (GRCm39) |
V227D |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,412 (GRCm39) |
F28L |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,861 (GRCm39) |
Y265N |
probably damaging |
Het |
| Or7e171-ps1 |
C |
T |
9: 19,853,527 (GRCm39) |
D70N |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,302,453 (GRCm39) |
L1219P |
possibly damaging |
Het |
| Pde6g |
T |
C |
11: 120,338,950 (GRCm39) |
E80G |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
T |
A |
14: 20,573,719 (GRCm39) |
Q304L |
probably benign |
Het |
| Prr19 |
T |
C |
7: 25,003,343 (GRCm39) |
L319P |
probably damaging |
Het |
| Prss23 |
C |
T |
7: 89,158,972 (GRCm39) |
A366T |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,008,422 (GRCm39) |
L560P |
probably damaging |
Het |
| Simc1 |
A |
T |
13: 54,687,517 (GRCm39) |
R95S |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,776,992 (GRCm39) |
V36E |
probably damaging |
Het |
| Slco1c1 |
A |
T |
6: 141,515,189 (GRCm39) |
T695S |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,128,831 (GRCm39) |
Q1393L |
possibly damaging |
Het |
| Ssh2 |
T |
C |
11: 77,340,476 (GRCm39) |
F543L |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,907,910 (GRCm39) |
V999D |
possibly damaging |
Het |
| Tnfsf10 |
A |
T |
3: 27,389,497 (GRCm39) |
Y186F |
probably damaging |
Het |
| Tnk2 |
A |
T |
16: 32,494,338 (GRCm39) |
|
probably null |
Het |
| Tram1 |
T |
C |
1: 13,659,832 (GRCm39) |
M39V |
probably benign |
Het |
| Uck2 |
C |
T |
1: 167,065,211 (GRCm39) |
V36I |
possibly damaging |
Het |
| Ugcg |
T |
A |
4: 59,217,109 (GRCm39) |
M211K |
probably damaging |
Het |
| Vash2 |
A |
T |
1: 190,692,496 (GRCm39) |
S226R |
probably damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,841 (GRCm39) |
M242K |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,451 (GRCm39) |
M817L |
probably benign |
Het |
| Vwa5b1 |
T |
C |
4: 138,321,623 (GRCm39) |
N390S |
probably damaging |
Het |
| Wdr73 |
T |
A |
7: 80,550,451 (GRCm39) |
D17V |
probably damaging |
Het |
| Wdr91 |
A |
T |
6: 34,866,050 (GRCm39) |
S501T |
possibly damaging |
Het |
| Zfp454 |
A |
G |
11: 50,777,194 (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 |
|
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 |
|
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'- CTGCCTGAGACAGAGACTTCTC -3'
(R):5'- CCAAGTTTGTATCTGCAACTGC -3'
Sequencing Primer
(F):5'- GAGACTTCTCTGTCCTGCTCACG -3'
(R):5'- GCAACTGCATCTGTCAGTGAACTTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation