Incidental Mutation 'R5870:Eps15'
| ID |
455109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eps15
|
| Ensembl Gene |
ENSMUSG00000028552 |
| Gene Name |
epidermal growth factor receptor pathway substrate 15 |
| Synonyms |
2410112D09Rik |
| MMRRC Submission |
044078-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5870 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 109218507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 107
(E107K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030281]
[ENSMUST00000102729]
[ENSMUST00000132165]
[ENSMUST00000175776]
[ENSMUST00000176251]
|
| AlphaFold |
P42567 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030281
AA Change: E107K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
AA Change: E107K
| 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 |
possibly damaging
Transcript: ENSMUST00000102729
AA Change: E421K
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: E421K
| 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 |
possibly damaging
Transcript: ENSMUST00000132165
AA Change: E421K
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: E421K
| 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 |
possibly damaging
Transcript: ENSMUST00000175776
AA Change: E457K
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: E457K
| 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: E421K
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: E421K
| 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 |
0.2927 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
93% (84/90) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,236,232 (GRCm39) |
V156A |
probably damaging |
Het |
| Ak6 |
C |
A |
13: 100,791,932 (GRCm39) |
P125Q |
probably damaging |
Het |
| Aqp4 |
A |
C |
18: 15,532,946 (GRCm39) |
V49G |
probably damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,251,163 (GRCm39) |
I874T |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,408,387 (GRCm39) |
D2040G |
unknown |
Het |
| Atp1a3 |
T |
G |
7: 24,697,003 (GRCm39) |
D220A |
probably benign |
Het |
| C2cd4c |
A |
T |
10: 79,448,043 (GRCm39) |
I368N |
possibly damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,394 (GRCm39) |
Q625* |
probably null |
Het |
| Cd177 |
T |
A |
7: 24,455,757 (GRCm39) |
H255L |
probably benign |
Het |
| Cdipt |
G |
A |
7: 126,578,094 (GRCm39) |
V114M |
probably benign |
Het |
| Coro1b |
T |
A |
19: 4,199,384 (GRCm39) |
H14Q |
probably damaging |
Het |
| Ctdp1 |
T |
A |
18: 80,451,901 (GRCm39) |
D158V |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,503,545 (GRCm39) |
S140T |
probably damaging |
Het |
| Dlgap3 |
T |
A |
4: 127,089,502 (GRCm39) |
L366* |
probably null |
Het |
| Dnah9 |
C |
T |
11: 65,976,036 (GRCm39) |
A1338T |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,952,199 (GRCm39) |
I424V |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,109,490 (GRCm39) |
A891S |
probably benign |
Het |
| Dync2i1 |
A |
G |
12: 116,219,865 (GRCm39) |
S26P |
possibly damaging |
Het |
| Elmod3 |
A |
G |
6: 72,571,721 (GRCm39) |
|
probably null |
Het |
| Esco1 |
A |
T |
18: 10,593,744 (GRCm39) |
|
probably null |
Het |
| Fuz |
A |
G |
7: 44,549,742 (GRCm39) |
T407A |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,424,197 (GRCm39) |
F27I |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,754,344 (GRCm39) |
Y182C |
probably damaging |
Het |
| Gm37240 |
A |
T |
3: 84,597,828 (GRCm39) |
|
probably benign |
Het |
| Gm37610 |
A |
G |
6: 41,061,848 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6658 |
G |
T |
8: 91,635,020 (GRCm39) |
|
probably benign |
Het |
| Gm9376 |
A |
G |
14: 118,504,789 (GRCm39) |
T74A |
possibly damaging |
Het |
| Hadha |
G |
A |
5: 30,349,284 (GRCm39) |
S109F |
possibly damaging |
Het |
| Herc3 |
A |
T |
6: 58,893,435 (GRCm39) |
Q899L |
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,434,284 (GRCm39) |
E485K |
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,285,725 (GRCm39) |
K650R |
possibly damaging |
Het |
| Ly6d |
A |
T |
15: 74,635,381 (GRCm39) |
V10D |
possibly damaging |
Het |
| Med27 |
A |
G |
2: 29,279,823 (GRCm39) |
|
probably null |
Het |
| Med29 |
A |
T |
7: 28,091,922 (GRCm39) |
V56E |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,996,919 (GRCm39) |
K17E |
probably damaging |
Het |
| Mrpl37 |
G |
A |
4: 106,923,919 (GRCm39) |
T25I |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,092,805 (GRCm39) |
D33G |
possibly damaging |
Het |
| Nrg3 |
T |
A |
14: 39,194,586 (GRCm39) |
I58F |
possibly damaging |
Het |
| Or52e2 |
A |
G |
7: 102,804,948 (GRCm39) |
I2T |
probably benign |
Het |
| Or7e176 |
A |
G |
9: 20,171,874 (GRCm39) |
D246G |
probably benign |
Het |
| Padi1 |
T |
A |
4: 140,553,892 (GRCm39) |
D359V |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,877,753 (GRCm39) |
V436A |
possibly damaging |
Het |
| Pgm3 |
C |
A |
9: 86,452,414 (GRCm39) |
K15N |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,790,730 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
G |
A |
6: 25,778,950 (GRCm39) |
T48I |
possibly damaging |
Het |
| Ppic |
T |
C |
18: 53,542,333 (GRCm39) |
K125R |
probably benign |
Het |
| Ppm1j |
T |
C |
3: 104,692,811 (GRCm39) |
V440A |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,300 (GRCm39) |
K458* |
probably null |
Het |
| Rd3 |
A |
T |
1: 191,717,261 (GRCm39) |
M244L |
probably benign |
Het |
| Rflnb |
A |
G |
11: 75,912,864 (GRCm39) |
Y175H |
probably benign |
Het |
| Rnf157 |
T |
A |
11: 116,237,900 (GRCm39) |
S574C |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,110,653 (GRCm39) |
|
probably null |
Het |
| Senp3 |
C |
T |
11: 69,569,048 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
G |
A |
2: 130,914,767 (GRCm39) |
R1450C |
probably damaging |
Het |
| Sim2 |
A |
G |
16: 93,924,193 (GRCm39) |
H446R |
probably damaging |
Het |
| Spon1 |
T |
C |
7: 113,631,021 (GRCm39) |
I444T |
probably damaging |
Het |
| Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
| Stxbp4 |
A |
T |
11: 90,428,782 (GRCm39) |
I441N |
possibly damaging |
Het |
| Sugt1 |
G |
A |
14: 79,846,451 (GRCm39) |
V163I |
probably benign |
Het |
| Surf1 |
G |
T |
2: 26,806,271 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,088,128 (GRCm39) |
E1348G |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,619,111 (GRCm39) |
V349D |
probably damaging |
Het |
| Ten1 |
A |
G |
11: 116,105,751 (GRCm39) |
R112G |
possibly damaging |
Het |
| Tm9sf4 |
A |
G |
2: 153,036,201 (GRCm39) |
D321G |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,461,237 (GRCm39) |
M594K |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,703,058 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
C |
T |
9: 48,937,285 (GRCm39) |
Q185* |
probably null |
Het |
| Vmn2r112 |
A |
G |
17: 22,838,004 (GRCm39) |
I822V |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,382,682 (GRCm39) |
L88* |
probably null |
Het |
| Zfr |
T |
A |
15: 12,160,701 (GRCm39) |
V758D |
probably damaging |
Het |
| Zfyve27 |
T |
G |
19: 42,160,110 (GRCm39) |
L42R |
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 |
|
|
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'- CATGCCCTCAAAGAGATAAATGTG -3'
(R):5'- ACATCTGTGTAATCAAGAGCTGG -3'
Sequencing Primer
(F):5'- GTTTCTTGTGTTTCAGGATCTTCAAG -3'
(R):5'- GAGCTGGAAAAATATCACCCTTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation