Incidental Mutation 'R6376:Eml2'
| ID |
514972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml2
|
| Ensembl Gene |
ENSMUSG00000040811 |
| Gene Name |
echinoderm microtubule associated protein like 2 |
| Synonyms |
1600029N02Rik |
| MMRRC Submission |
044526-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6376 (G1)
|
| Quality Score |
141.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18910346-18940407 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 18935088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 432
(V432I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048502]
[ENSMUST00000117338]
[ENSMUST00000120595]
[ENSMUST00000148246]
|
| AlphaFold |
Q7TNG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048502
AA Change: V451I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: V451I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HELP
|
17 |
65 |
4.6e-14 |
PFAM |
|
WD40
|
113 |
162 |
8.36e-2 |
SMART |
|
WD40
|
165 |
210 |
9.21e0 |
SMART |
|
WD40
|
213 |
252 |
7.99e-1 |
SMART |
|
WD40
|
258 |
298 |
3.7e0 |
SMART |
|
WD40
|
301 |
341 |
3.58e-1 |
SMART |
|
WD40
|
385 |
424 |
5.52e-2 |
SMART |
|
WD40
|
427 |
465 |
1.1e1 |
SMART |
|
WD40
|
468 |
507 |
4.95e-4 |
SMART |
|
WD40
|
514 |
553 |
4.62e-4 |
SMART |
|
WD40
|
579 |
620 |
4.75e1 |
SMART |
|
WD40
|
626 |
666 |
2.67e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117338
AA Change: V624I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: V624I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
coiled coil region
|
59 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
191 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
211 |
285 |
3.5e-29 |
PFAM |
|
WD40
|
286 |
335 |
5.5e-4 |
SMART |
|
WD40
|
338 |
383 |
5.8e-2 |
SMART |
|
WD40
|
386 |
425 |
5.2e-3 |
SMART |
|
WD40
|
431 |
471 |
2.4e-2 |
SMART |
|
WD40
|
474 |
514 |
2.3e-3 |
SMART |
|
WD40
|
558 |
597 |
3.6e-4 |
SMART |
|
WD40
|
600 |
638 |
7.1e-2 |
SMART |
|
WD40
|
641 |
680 |
3.1e-6 |
SMART |
|
WD40
|
687 |
726 |
3.1e-6 |
SMART |
|
WD40
|
752 |
793 |
3e-1 |
SMART |
|
WD40
|
799 |
839 |
1.7e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120595
AA Change: V432I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: V432I
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
94 |
154 |
2.48e0 |
SMART |
|
WD40
|
157 |
196 |
7.99e-1 |
SMART |
|
WD40
|
202 |
242 |
3.7e0 |
SMART |
|
WD40
|
245 |
285 |
3.58e-1 |
SMART |
|
WD40
|
329 |
368 |
5.52e-2 |
SMART |
|
WD40
|
371 |
409 |
1.1e1 |
SMART |
|
WD40
|
412 |
451 |
4.95e-4 |
SMART |
|
WD40
|
458 |
497 |
4.62e-4 |
SMART |
|
WD40
|
523 |
564 |
4.75e1 |
SMART |
|
WD40
|
570 |
610 |
2.67e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148246
|
| SMART Domains |
Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
94 |
143 |
8.36e-2 |
SMART |
|
WD40
|
146 |
191 |
9.21e0 |
SMART |
|
WD40
|
194 |
233 |
7.99e-1 |
SMART |
|
WD40
|
239 |
279 |
3.7e0 |
SMART |
|
WD40
|
282 |
322 |
3.58e-1 |
SMART |
|
WD40
|
366 |
405 |
5.52e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.2533 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (81/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
T |
9: 53,339,456 (GRCm39) |
E106D |
probably damaging |
Het |
| A830018L16Rik |
A |
T |
1: 11,868,718 (GRCm39) |
N333Y |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,917,309 (GRCm39) |
M1007K |
possibly damaging |
Het |
| Accsl |
T |
A |
2: 93,687,343 (GRCm39) |
I495F |
probably damaging |
Het |
| Acsl3 |
T |
C |
1: 78,674,182 (GRCm39) |
S373P |
possibly damaging |
Het |
| Adam7 |
A |
G |
14: 68,742,546 (GRCm39) |
I689T |
possibly damaging |
Het |
| Akap11 |
G |
A |
14: 78,752,336 (GRCm39) |
T179I |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,816,187 (GRCm39) |
K309R |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,859,673 (GRCm39) |
I824N |
probably damaging |
Het |
| Apc2 |
T |
A |
10: 80,148,488 (GRCm39) |
C1152S |
probably damaging |
Het |
| Arhgap17 |
C |
A |
7: 122,899,727 (GRCm39) |
W409L |
probably damaging |
Het |
| Arhgef15 |
T |
C |
11: 68,845,796 (GRCm39) |
I19V |
unknown |
Het |
| Arnt |
C |
A |
3: 95,397,936 (GRCm39) |
P573H |
probably damaging |
Het |
| Arvcf |
G |
A |
16: 18,223,882 (GRCm39) |
G932R |
probably damaging |
Het |
| Atg4a-ps |
C |
T |
3: 103,553,044 (GRCm39) |
W99* |
probably null |
Het |
| Atp13a5 |
T |
A |
16: 29,056,004 (GRCm39) |
D1052V |
probably benign |
Het |
| Atp2b4 |
T |
C |
1: 133,642,797 (GRCm39) |
T1103A |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,335 (GRCm39) |
Q362K |
possibly damaging |
Het |
| Cd320 |
T |
A |
17: 34,066,491 (GRCm39) |
N90K |
probably benign |
Het |
| Cep170b |
A |
T |
12: 112,698,502 (GRCm39) |
I87F |
probably damaging |
Het |
| Coq3 |
T |
G |
4: 21,900,486 (GRCm39) |
C238G |
probably benign |
Het |
| Cpa5 |
A |
T |
6: 30,614,044 (GRCm39) |
Q62L |
probably benign |
Het |
| Ctsg |
A |
T |
14: 56,339,110 (GRCm39) |
C49* |
probably null |
Het |
| Cul9 |
T |
C |
17: 46,819,489 (GRCm39) |
T2000A |
probably damaging |
Het |
| Dedd |
C |
T |
1: 171,167,790 (GRCm39) |
P155S |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,997,565 (GRCm39) |
S2598P |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,433,459 (GRCm39) |
P379S |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,165,703 (GRCm39) |
S519R |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,874,660 (GRCm39) |
S1192G |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,084,760 (GRCm39) |
I869T |
probably damaging |
Het |
| Elavl4 |
C |
A |
4: 110,112,651 (GRCm39) |
|
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Exoc3l2 |
G |
A |
7: 19,203,635 (GRCm39) |
A76T |
possibly damaging |
Het |
| Fam89b |
T |
C |
19: 5,778,757 (GRCm39) |
Y144C |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,749,580 (GRCm39) |
E1082G |
probably damaging |
Het |
| Gtf3a |
A |
T |
5: 146,890,798 (GRCm39) |
|
probably null |
Het |
| Hoxc12 |
C |
A |
15: 102,845,524 (GRCm39) |
F79L |
possibly damaging |
Het |
| Hspb8 |
G |
T |
5: 116,547,491 (GRCm39) |
L164I |
probably damaging |
Het |
| Ina |
C |
T |
19: 47,003,564 (GRCm39) |
A124V |
probably benign |
Het |
| Inhbb |
T |
A |
1: 119,345,411 (GRCm39) |
I293F |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,314,449 (GRCm39) |
Y633C |
possibly damaging |
Het |
| Jag2 |
C |
T |
12: 112,872,949 (GRCm39) |
V1102I |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,796,361 (GRCm39) |
F1138Y |
probably benign |
Het |
| Large2 |
T |
A |
2: 92,200,853 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,959,966 (GRCm39) |
S177P |
probably benign |
Het |
| Lims2 |
G |
A |
18: 32,087,515 (GRCm39) |
R124H |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,313,787 (GRCm39) |
T2315S |
probably benign |
Het |
| Lrrc4c |
A |
C |
2: 97,459,391 (GRCm39) |
T6P |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,626,469 (GRCm39) |
L1171S |
possibly damaging |
Het |
| Man2b2 |
A |
T |
5: 36,978,378 (GRCm39) |
M302K |
probably damaging |
Het |
| Mocos |
G |
A |
18: 24,834,542 (GRCm39) |
G860R |
possibly damaging |
Het |
| Mylk3 |
T |
A |
8: 86,085,571 (GRCm39) |
D258V |
possibly damaging |
Het |
| Nkx1-2 |
C |
T |
7: 132,201,240 (GRCm39) |
D6N |
probably damaging |
Het |
| Nrp2 |
A |
G |
1: 62,758,176 (GRCm39) |
N54S |
possibly damaging |
Het |
| Nt5el |
T |
C |
13: 105,256,473 (GRCm39) |
I514T |
possibly damaging |
Het |
| Or2d2 |
A |
G |
7: 106,727,848 (GRCm39) |
F251L |
probably benign |
Het |
| Pacsin1 |
A |
T |
17: 27,926,879 (GRCm39) |
T195S |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,056,693 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,327,180 (GRCm39) |
M126L |
probably benign |
Het |
| Podxl |
T |
A |
6: 31,505,432 (GRCm39) |
T204S |
probably benign |
Het |
| Pole |
G |
A |
5: 110,484,240 (GRCm39) |
D2175N |
probably damaging |
Het |
| Pramel16 |
C |
T |
4: 143,677,267 (GRCm39) |
G104E |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,587,749 (GRCm39) |
K2545E |
probably benign |
Het |
| Prodh |
T |
C |
16: 17,897,849 (GRCm39) |
I183V |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
| Rapgef5 |
G |
A |
12: 117,684,988 (GRCm39) |
V246M |
probably damaging |
Het |
| Rubcnl |
A |
G |
14: 75,269,834 (GRCm39) |
N164S |
probably benign |
Het |
| Samd4 |
A |
T |
14: 47,290,419 (GRCm39) |
L175F |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 139,808,642 (GRCm39) |
G851D |
probably damaging |
Het |
| Scimp |
C |
A |
11: 70,688,893 (GRCm39) |
W41L |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,291,843 (GRCm39) |
K1634N |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,030,888 (GRCm39) |
R957G |
probably benign |
Het |
| Sptlc3 |
T |
A |
2: 139,478,692 (GRCm39) |
N550K |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,094,361 (GRCm39) |
N609D |
probably null |
Het |
| Styxl1 |
A |
T |
5: 135,776,664 (GRCm39) |
L164H |
probably benign |
Het |
| Synpo2l |
A |
T |
14: 20,710,702 (GRCm39) |
D865E |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,663,267 (GRCm39) |
M19V |
probably damaging |
Het |
| Trappc8 |
G |
C |
18: 20,970,132 (GRCm39) |
R953G |
probably benign |
Het |
| Trav13-1 |
A |
G |
14: 53,782,800 (GRCm39) |
N50S |
probably benign |
Het |
| Trim12a |
T |
C |
7: 103,955,241 (GRCm39) |
K161E |
probably benign |
Het |
| Vipr1 |
C |
A |
9: 121,493,640 (GRCm39) |
N230K |
probably damaging |
Het |
| Xirp1 |
A |
T |
9: 119,847,557 (GRCm39) |
V3E |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,892 (GRCm39) |
F82L |
probably benign |
Het |
|
| Other mutations in Eml2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00690:Eml2
|
APN |
7 |
18,940,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00786:Eml2
|
APN |
7 |
18,936,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01084:Eml2
|
APN |
7 |
18,924,663 (GRCm39) |
nonsense |
probably null |
|
|
IGL01132:Eml2
|
APN |
7 |
18,934,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01678:Eml2
|
APN |
7 |
18,920,047 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01800:Eml2
|
APN |
7 |
18,935,122 (GRCm39) |
intron |
probably benign |
|
|
IGL02517:Eml2
|
APN |
7 |
18,940,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02607:Eml2
|
APN |
7 |
18,940,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02676:Eml2
|
APN |
7 |
18,918,846 (GRCm39) |
nonsense |
probably null |
|
|
IGL03082:Eml2
|
APN |
7 |
18,935,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
puffery
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628_Eml2_697
|
UTSW |
7 |
18,935,479 (GRCm39) |
splice site |
probably benign |
|
|
R0040:Eml2
|
UTSW |
7 |
18,930,539 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0135:Eml2
|
UTSW |
7 |
18,937,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Eml2
|
UTSW |
7 |
18,918,797 (GRCm39) |
nonsense |
probably null |
|
|
R0240:Eml2
|
UTSW |
7 |
18,918,797 (GRCm39) |
nonsense |
probably null |
|
|
R0362:Eml2
|
UTSW |
7 |
18,924,731 (GRCm39) |
splice site |
probably null |
|
|
R0387:Eml2
|
UTSW |
7 |
18,916,184 (GRCm39) |
splice site |
probably null |
|
|
R0432:Eml2
|
UTSW |
7 |
18,913,456 (GRCm39) |
nonsense |
probably null |
|
|
R0614:Eml2
|
UTSW |
7 |
18,936,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628:Eml2
|
UTSW |
7 |
18,935,479 (GRCm39) |
splice site |
probably benign |
|
|
R1078:Eml2
|
UTSW |
7 |
18,913,687 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1531:Eml2
|
UTSW |
7 |
18,930,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Eml2
|
UTSW |
7 |
18,927,986 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1864:Eml2
|
UTSW |
7 |
18,935,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Eml2
|
UTSW |
7 |
18,937,889 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2032:Eml2
|
UTSW |
7 |
18,936,480 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2185:Eml2
|
UTSW |
7 |
18,927,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Eml2
|
UTSW |
7 |
18,910,620 (GRCm39) |
unclassified |
probably benign |
|
|
R3821:Eml2
|
UTSW |
7 |
18,936,911 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4199:Eml2
|
UTSW |
7 |
18,913,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4411:Eml2
|
UTSW |
7 |
18,916,326 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4497:Eml2
|
UTSW |
7 |
18,913,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Eml2
|
UTSW |
7 |
18,937,935 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4912:Eml2
|
UTSW |
7 |
18,927,924 (GRCm39) |
splice site |
probably null |
|
|
R5028:Eml2
|
UTSW |
7 |
18,913,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5192:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Eml2
|
UTSW |
7 |
18,913,188 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5718:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5720:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5727:Eml2
|
UTSW |
7 |
18,924,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5841:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5842:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5843:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6014:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6015:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6075:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6126:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6128:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6129:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Eml2
|
UTSW |
7 |
18,913,289 (GRCm39) |
splice site |
probably null |
|
|
R6273:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6435:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6436:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Eml2
|
UTSW |
7 |
18,930,236 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6550:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6551:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6552:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6554:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Eml2
|
UTSW |
7 |
18,930,539 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6598:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6599:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6704:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6705:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6709:Eml2
|
UTSW |
7 |
18,940,136 (GRCm39) |
makesense |
probably null |
|
|
R6730:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Eml2
|
UTSW |
7 |
18,934,432 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6742:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6770:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Eml2
|
UTSW |
7 |
18,930,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6878:Eml2
|
UTSW |
7 |
18,934,537 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7045:Eml2
|
UTSW |
7 |
18,935,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Eml2
|
UTSW |
7 |
18,934,515 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7478:Eml2
|
UTSW |
7 |
18,940,066 (GRCm39) |
nonsense |
probably null |
|
|
R7706:Eml2
|
UTSW |
7 |
18,920,035 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7811:Eml2
|
UTSW |
7 |
18,920,047 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8084:Eml2
|
UTSW |
7 |
18,915,149 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8337:Eml2
|
UTSW |
7 |
18,930,161 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8414:Eml2
|
UTSW |
7 |
18,913,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Eml2
|
UTSW |
7 |
18,927,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8934:Eml2
|
UTSW |
7 |
18,913,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9110:Eml2
|
UTSW |
7 |
18,925,620 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9131:Eml2
|
UTSW |
7 |
18,918,751 (GRCm39) |
missense |
|
|
|
R9144:Eml2
|
UTSW |
7 |
18,935,564 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9261:Eml2
|
UTSW |
7 |
18,913,743 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9285:Eml2
|
UTSW |
7 |
18,925,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9767:Eml2
|
UTSW |
7 |
18,920,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAATGGGGATGGCTTCTG -3'
(R):5'- CTGTGTGACAGGCTGAGATG -3'
Sequencing Primer
(F):5'- CTTCTGGTGGTTTCTGTAAGGCATC -3'
(R):5'- GGATTGAAGCAGCAGGTT -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation