Incidental Mutation 'R9369:Eps15'
| ID |
709187 |
| 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 # |
R9369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
109137465-109245014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109240034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 492
(D492E)
|
| 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: D492E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552
AA Change: D492E
| 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 damaging
Transcript: ENSMUST00000102729
AA Change: D806E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: D806E
| 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 damaging
Transcript: ENSMUST00000132165
AA Change: D673E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: D673E
| 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 damaging
Transcript: ENSMUST00000175776
AA Change: D842E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: D842E
| 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 |
noncoding transcript
Transcript: ENSMUST00000177140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177192
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| 9330159F19Rik |
T |
A |
10: 29,100,974 (GRCm39) |
V449D |
probably damaging |
Het |
| Abca13 |
G |
T |
11: 9,328,444 (GRCm39) |
V3506L |
probably damaging |
Het |
| Accs |
G |
A |
2: 93,666,093 (GRCm39) |
Q498* |
probably null |
Het |
| Ankrd17 |
C |
T |
5: 90,416,508 (GRCm39) |
R1108Q |
probably damaging |
Het |
| C2cd2 |
T |
C |
16: 97,723,333 (GRCm39) |
I61M |
possibly damaging |
Het |
| Cd22 |
T |
C |
7: 30,576,999 (GRCm39) |
T103A |
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,375,187 (GRCm39) |
L150* |
probably null |
Het |
| Ces3b |
A |
G |
8: 105,813,502 (GRCm39) |
S258G |
probably damaging |
Het |
| Cln6 |
A |
G |
9: 62,754,431 (GRCm39) |
T158A |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,543,421 (GRCm39) |
K2250E |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,564,222 (GRCm39) |
N1946Y |
possibly damaging |
Het |
| Emb |
G |
T |
13: 117,357,096 (GRCm39) |
|
probably benign |
Het |
| Ern1 |
A |
T |
11: 106,305,259 (GRCm39) |
M377K |
probably benign |
Het |
| Esrrb |
A |
G |
12: 86,517,102 (GRCm39) |
D78G |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,201,514 (GRCm39) |
M520K |
possibly damaging |
Het |
| Foxb1 |
A |
G |
9: 69,666,930 (GRCm39) |
L200P |
probably damaging |
Het |
| Gli2 |
G |
T |
1: 118,765,885 (GRCm39) |
N755K |
probably benign |
Het |
| Gnal |
A |
G |
18: 67,324,439 (GRCm39) |
|
probably null |
Het |
| Gxylt1 |
A |
T |
15: 93,172,896 (GRCm39) |
F23I |
possibly damaging |
Het |
| Hsd17b13 |
T |
A |
5: 104,125,034 (GRCm39) |
R50W |
probably damaging |
Het |
| Htr5b |
G |
C |
1: 121,455,482 (GRCm39) |
A146G |
possibly damaging |
Het |
| Ifi206 |
A |
G |
1: 173,301,489 (GRCm39) |
F730L |
unknown |
Het |
| Ifrd2 |
C |
T |
9: 107,467,802 (GRCm39) |
Q163* |
probably null |
Het |
| Ift88 |
A |
T |
14: 57,685,137 (GRCm39) |
I318F |
probably benign |
Het |
| Ighv5-12 |
T |
A |
12: 113,665,985 (GRCm39) |
K38* |
probably null |
Het |
| Il17rc |
T |
C |
6: 113,449,641 (GRCm39) |
S112P |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,131,821 (GRCm39) |
N254S |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,266,203 (GRCm39) |
|
probably null |
Het |
| Jmjd8 |
A |
T |
17: 26,048,686 (GRCm39) |
H100L |
unknown |
Het |
| Kcnh4 |
T |
C |
11: 100,648,428 (GRCm39) |
E92G |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,940,099 (GRCm39) |
I989V |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,223,584 (GRCm39) |
N308K |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,027,393 (GRCm39) |
T683S |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,349,150 (GRCm39) |
|
probably null |
Het |
| Met |
A |
G |
6: 17,492,228 (GRCm39) |
K330R |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,219,670 (GRCm39) |
V428A |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,742,829 (GRCm39) |
E593G |
probably damaging |
Het |
| N4bp2 |
T |
G |
5: 65,964,259 (GRCm39) |
D769E |
probably damaging |
Het |
| Or10ak13 |
T |
A |
4: 118,639,077 (GRCm39) |
Q235L |
probably benign |
Het |
| Or10j3b |
A |
G |
1: 173,043,451 (GRCm39) |
I78V |
possibly damaging |
Het |
| Or52ae7 |
A |
G |
7: 103,119,555 (GRCm39) |
Y103C |
probably benign |
Het |
| Otoa |
C |
T |
7: 120,744,840 (GRCm39) |
A866V |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,260,240 (GRCm39) |
L492P |
probably damaging |
Het |
| Pctp |
A |
T |
11: 89,876,938 (GRCm39) |
L187H |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
G |
17: 33,285,579 (GRCm39) |
T408P |
probably damaging |
Het |
| Pik3ap1 |
T |
G |
19: 41,317,743 (GRCm39) |
D204A |
probably damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,603,280 (GRCm39) |
V110A |
probably benign |
Het |
| Prokr1 |
A |
T |
6: 87,558,407 (GRCm39) |
V326E |
possibly damaging |
Het |
| Prrt2 |
T |
C |
7: 126,619,343 (GRCm39) |
I41V |
probably benign |
Het |
| Psmb1 |
A |
G |
17: 15,710,478 (GRCm39) |
Y24H |
probably damaging |
Het |
| Ptpdc1 |
C |
T |
13: 48,736,722 (GRCm39) |
A683T |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,151,057 (GRCm39) |
K240E |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,316,486 (GRCm39) |
V2402A |
probably benign |
Het |
| Rictor |
T |
C |
15: 6,773,848 (GRCm39) |
F79L |
probably benign |
Het |
| Ripk2 |
A |
C |
4: 16,127,651 (GRCm39) |
S364A |
probably benign |
Het |
| S100a4 |
A |
T |
3: 90,512,394 (GRCm39) |
K26* |
probably null |
Het |
| Shank1 |
A |
G |
7: 44,001,478 (GRCm39) |
T1066A |
unknown |
Het |
| Slc9b2 |
A |
G |
3: 135,036,446 (GRCm39) |
T417A |
probably benign |
Het |
| Slf2 |
C |
T |
19: 44,923,953 (GRCm39) |
Q256* |
probably null |
Het |
| Smad5 |
T |
C |
13: 56,885,242 (GRCm39) |
V450A |
possibly damaging |
Het |
| Smok3c |
A |
C |
5: 138,063,770 (GRCm39) |
D419A |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,703,741 (GRCm39) |
T13S |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,936,217 (GRCm39) |
N1610K |
probably damaging |
Het |
| Tex19.2 |
A |
G |
11: 121,007,566 (GRCm39) |
L294P |
possibly damaging |
Het |
| Tex44 |
T |
C |
1: 86,355,383 (GRCm39) |
W431R |
probably damaging |
Het |
| Tmcc1 |
A |
T |
6: 116,111,050 (GRCm39) |
V77E |
probably benign |
Het |
| Tmed4 |
A |
T |
11: 6,224,133 (GRCm39) |
M121K |
possibly damaging |
Het |
| Trit1 |
T |
C |
4: 122,945,898 (GRCm39) |
V349A |
possibly damaging |
Het |
| Txndc15 |
C |
T |
13: 55,869,507 (GRCm39) |
A220V |
probably benign |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Ufd1 |
T |
C |
16: 18,634,113 (GRCm39) |
|
probably null |
Het |
| Umps |
T |
C |
16: 33,777,206 (GRCm39) |
N458S |
probably benign |
Het |
| Vmn2r24 |
A |
C |
6: 123,792,357 (GRCm39) |
Q561H |
probably damaging |
Het |
| Vwce |
T |
G |
19: 10,624,061 (GRCm39) |
S317R |
probably benign |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
| Zfp977 |
A |
T |
7: 42,229,518 (GRCm39) |
F336I |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,887,828 (GRCm39) |
D866E |
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 |
|
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'- AAGGCCTTTGAGAAAGTGCC -3'
(R):5'- TGTTTGCAAGAACCACAATGAC -3'
Sequencing Primer
(F):5'- CCTTTGAGAAAGTGCCGTAGG -3'
(R):5'- GTAATGAAGTCATCTAAGAACCAGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation