Incidental Mutation 'R6913:Eps15'
| ID |
539154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| MMRRC Submission |
045034-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6913 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109218427 bp (GRCm39)
|
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.9%
|
| Validation Efficiency |
97% (74/76) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,197,494 (GRCm39) |
I619N |
possibly damaging |
Het |
| Accsl |
T |
C |
2: 93,696,488 (GRCm39) |
K41E |
possibly damaging |
Het |
| Actr6 |
T |
C |
10: 89,562,558 (GRCm39) |
E107G |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,771,100 (GRCm39) |
M9L |
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,215,778 (GRCm39) |
H266Q |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,877,017 (GRCm39) |
F1208S |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,650 (GRCm39) |
D734G |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,962,972 (GRCm39) |
V43A |
possibly damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,387,390 (GRCm39) |
V79A |
probably damaging |
Het |
| Aste1 |
T |
A |
9: 105,274,607 (GRCm39) |
S221R |
probably benign |
Het |
| Ccndbp1 |
G |
A |
2: 120,840,347 (GRCm39) |
E94K |
probably benign |
Het |
| Cdc34 |
G |
A |
10: 79,520,937 (GRCm39) |
|
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,348,896 (GRCm39) |
D67G |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,451,951 (GRCm39) |
E1348G |
probably damaging |
Het |
| Chl1 |
C |
T |
6: 103,642,909 (GRCm39) |
Q216* |
probably null |
Het |
| Cse1l |
G |
A |
2: 166,771,797 (GRCm39) |
V353I |
possibly damaging |
Het |
| Ctbp2 |
G |
A |
7: 132,616,455 (GRCm39) |
S160F |
possibly damaging |
Het |
| Cyp1a1 |
C |
A |
9: 57,607,576 (GRCm39) |
T68K |
probably damaging |
Het |
| Dennd11 |
T |
C |
6: 40,383,851 (GRCm39) |
N397S |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,828,374 (GRCm39) |
M594K |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,189,505 (GRCm39) |
E48K |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,647,049 (GRCm39) |
V35A |
probably damaging |
Het |
| Edem2 |
A |
T |
2: 155,568,594 (GRCm39) |
S73R |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,424,242 (GRCm39) |
N3065S |
probably damaging |
Het |
| Gal3st4 |
A |
T |
5: 138,269,090 (GRCm39) |
S123R |
possibly damaging |
Het |
| Garnl3 |
T |
A |
2: 32,876,841 (GRCm39) |
I937F |
possibly damaging |
Het |
| Gfod2 |
C |
T |
8: 106,443,995 (GRCm39) |
V183M |
possibly damaging |
Het |
| Glipr1l1 |
T |
C |
10: 111,898,339 (GRCm39) |
|
probably null |
Het |
| Gm7145 |
T |
G |
1: 117,913,711 (GRCm39) |
C198G |
probably damaging |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| H2-Eb2 |
G |
A |
17: 34,552,523 (GRCm39) |
A123T |
possibly damaging |
Het |
| Ighv1-55 |
T |
C |
12: 115,172,129 (GRCm39) |
I7V |
probably benign |
Het |
| Itpripl2 |
G |
T |
7: 118,090,332 (GRCm39) |
P76T |
possibly damaging |
Het |
| Kat6a |
C |
A |
8: 23,393,215 (GRCm39) |
A231E |
possibly damaging |
Het |
| Lipo3 |
C |
T |
19: 33,757,705 (GRCm39) |
V255I |
probably benign |
Het |
| Mamstr |
A |
T |
7: 45,292,662 (GRCm39) |
M141L |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,210,702 (GRCm39) |
V480A |
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,973,810 (GRCm39) |
N523S |
probably benign |
Het |
| Mill2 |
A |
G |
7: 18,590,351 (GRCm39) |
T144A |
probably null |
Het |
| Muc16 |
C |
A |
9: 18,553,959 (GRCm39) |
L4111F |
unknown |
Het |
| Mylk2 |
G |
A |
2: 152,755,610 (GRCm39) |
G258E |
possibly damaging |
Het |
| Myom2 |
T |
G |
8: 15,115,710 (GRCm39) |
S42A |
probably benign |
Het |
| Nab1 |
C |
A |
1: 52,503,995 (GRCm39) |
G401C |
possibly damaging |
Het |
| Nifk |
T |
C |
1: 118,260,592 (GRCm39) |
V244A |
possibly damaging |
Het |
| Nipsnap2 |
C |
A |
5: 129,830,357 (GRCm39) |
Q224K |
probably benign |
Het |
| Nop16 |
T |
G |
13: 54,737,553 (GRCm39) |
K47Q |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,853,192 (GRCm39) |
S548R |
probably damaging |
Het |
| Or2at1 |
A |
C |
7: 99,416,924 (GRCm39) |
D185A |
probably damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,347 (GRCm39) |
M1V |
probably null |
Het |
| Or5b111 |
A |
G |
19: 13,290,998 (GRCm39) |
I217T |
probably benign |
Het |
| Pard6g |
G |
A |
18: 80,160,534 (GRCm39) |
V216I |
possibly damaging |
Het |
| Pcdh20 |
C |
T |
14: 88,706,038 (GRCm39) |
V421I |
probably benign |
Het |
| Pcif1 |
G |
A |
2: 164,726,224 (GRCm39) |
|
probably null |
Het |
| Pde11a |
C |
A |
2: 76,168,084 (GRCm39) |
V290F |
probably damaging |
Het |
| Pisd |
T |
C |
5: 32,894,773 (GRCm39) |
Y511C |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,110,405 (GRCm39) |
D276E |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,549,496 (GRCm39) |
V906A |
probably damaging |
Het |
| Prkcg |
C |
T |
7: 3,362,335 (GRCm39) |
P270S |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,993,281 (GRCm39) |
I884F |
probably damaging |
Het |
| Rpl13 |
C |
A |
8: 123,830,014 (GRCm39) |
N113K |
possibly damaging |
Het |
| Rxra |
T |
A |
2: 27,631,186 (GRCm39) |
I139N |
probably damaging |
Het |
| Sf3b5 |
T |
A |
10: 12,884,487 (GRCm39) |
C41S |
probably benign |
Het |
| Spata31e3 |
G |
T |
13: 50,399,293 (GRCm39) |
P1011H |
probably damaging |
Het |
| Stk24 |
C |
T |
14: 121,540,221 (GRCm39) |
R126Q |
probably damaging |
Het |
| Taar8b |
T |
C |
10: 23,967,963 (GRCm39) |
D77G |
possibly damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,468,452 (GRCm39) |
C566S |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,751,972 (GRCm39) |
M948K |
probably damaging |
Het |
| Thbs4 |
T |
A |
13: 92,894,444 (GRCm39) |
Q693L |
possibly damaging |
Het |
| Tnfrsf26 |
A |
T |
7: 143,172,126 (GRCm39) |
C61* |
probably null |
Het |
| Trp63 |
A |
G |
16: 25,707,918 (GRCm39) |
E636G |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,288,266 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,660,755 (GRCm39) |
|
probably benign |
Het |
| Vamp1 |
T |
A |
6: 125,195,908 (GRCm39) |
V55D |
probably damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,698,537 (GRCm39) |
N12S |
probably damaging |
Het |
| Vmn2r90 |
G |
A |
17: 17,924,323 (GRCm39) |
G41S |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,007,775 (GRCm39) |
D71E |
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 |
|
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'- AGAGGTCACTTGAAGACTGC -3'
(R):5'- CAGTGCCACTAACAAGCAGG -3'
Sequencing Primer
(F):5'- ATCAAGTGCTTTAGTCCTCCAATAC -3'
(R):5'- CACTAACAAGCAGGCAATGTTTTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation