Incidental Mutation 'R0362:Eml2'
| ID |
36238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml2
|
| Ensembl Gene |
ENSMUSG00000040811 |
| Gene Name |
echinoderm microtubule associated protein like 2 |
| Synonyms |
1600029N02Rik |
| MMRRC Submission |
038568-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18910346-18940407 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4448 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 18924731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048502]
[ENSMUST00000117338]
[ENSMUST00000120595]
[ENSMUST00000141718]
[ENSMUST00000148246]
|
| AlphaFold |
Q7TNG5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048502
AA Change: D219G
PolyPhen 2
Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: D219G
| 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 benign
Transcript: ENSMUST00000117338
AA Change: D392G
PolyPhen 2
Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: D392G
| 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 |
possibly damaging
Transcript: ENSMUST00000120595
AA Change: D200G
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: D200G
| 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 null
Transcript: ENSMUST00000141718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146095
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148246
AA Change: D200G
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811
AA Change: D200G
| 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 |
0.6421 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
99% (104/105) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,563,261 (GRCm39) |
Q401R |
probably benign |
Het |
| Acp3 |
A |
G |
9: 104,191,626 (GRCm39) |
F220S |
probably damaging |
Het |
| Adam7 |
A |
G |
14: 68,747,105 (GRCm39) |
|
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,526,584 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,625,051 (GRCm39) |
|
probably benign |
Het |
| Atg10 |
T |
C |
13: 91,189,109 (GRCm39) |
|
probably null |
Het |
| Atm |
T |
C |
9: 53,370,138 (GRCm39) |
I2325V |
possibly damaging |
Het |
| Btnl9 |
C |
T |
11: 49,060,443 (GRCm39) |
R435H |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,923,551 (GRCm39) |
K1111E |
probably damaging |
Het |
| Ciao2b |
T |
C |
8: 105,368,222 (GRCm39) |
D34G |
probably null |
Het |
| Col11a2 |
T |
A |
17: 34,281,420 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
A |
G |
2: 172,960,236 (GRCm39) |
W116R |
probably damaging |
Het |
| Ctsk |
A |
T |
3: 95,408,255 (GRCm39) |
Y37F |
probably damaging |
Het |
| Daam2 |
G |
C |
17: 49,787,813 (GRCm39) |
|
probably null |
Het |
| Dcdc2b |
T |
C |
4: 129,504,031 (GRCm39) |
|
probably null |
Het |
| Ddx28 |
C |
T |
8: 106,737,926 (GRCm39) |
R44Q |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,099,393 (GRCm39) |
N1139K |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,989,365 (GRCm39) |
M1281K |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,185,592 (GRCm39) |
S110G |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,799,483 (GRCm39) |
Y553H |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,005,487 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
A |
G |
3: 95,644,369 (GRCm39) |
I152T |
possibly damaging |
Het |
| Edc4 |
C |
G |
8: 106,613,407 (GRCm39) |
P307R |
probably damaging |
Het |
| Eeig2 |
C |
T |
3: 108,887,497 (GRCm39) |
E256K |
probably benign |
Het |
| Egr1 |
A |
G |
18: 34,996,366 (GRCm39) |
T383A |
possibly damaging |
Het |
| Eno4 |
A |
G |
19: 58,932,056 (GRCm39) |
|
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,369,429 (GRCm39) |
I404K |
probably damaging |
Het |
| Exoc7 |
G |
T |
11: 116,186,488 (GRCm39) |
T310K |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,376,393 (GRCm39) |
V369L |
probably benign |
Het |
| Fancc |
A |
T |
13: 63,545,970 (GRCm39) |
I91K |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,151,697 (GRCm39) |
Q2519R |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,223,133 (GRCm39) |
C826* |
probably null |
Het |
| Foxi3 |
A |
G |
6: 70,933,612 (GRCm39) |
D33G |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,714,167 (GRCm39) |
|
probably benign |
Het |
| Gm14221 |
T |
C |
2: 160,410,310 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
T |
A |
9: 118,384,853 (GRCm39) |
H630Q |
probably benign |
Het |
| Gpat4 |
T |
C |
8: 23,670,949 (GRCm39) |
S88G |
probably benign |
Het |
| Gucy2d |
A |
T |
7: 98,092,892 (GRCm39) |
S90C |
probably damaging |
Het |
| Has2 |
A |
C |
15: 56,545,057 (GRCm39) |
C182G |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,935,644 (GRCm39) |
S1647R |
probably damaging |
Het |
| Ifi35 |
T |
C |
11: 101,348,038 (GRCm39) |
V48A |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,030,730 (GRCm39) |
|
probably benign |
Het |
| Magi2 |
A |
G |
5: 19,432,573 (GRCm39) |
K96R |
probably damaging |
Het |
| Map7d1 |
G |
T |
4: 126,128,787 (GRCm39) |
P462Q |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,746,439 (GRCm39) |
|
probably null |
Het |
| Mfsd4a |
A |
T |
1: 131,987,013 (GRCm39) |
V105E |
probably damaging |
Het |
| Mrpl53 |
C |
T |
6: 83,086,526 (GRCm39) |
R77C |
probably damaging |
Het |
| Mtnr1b |
C |
T |
9: 15,785,600 (GRCm39) |
V53M |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,800,414 (GRCm39) |
W990R |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,405,186 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
C |
T |
11: 79,427,704 (GRCm39) |
A1766V |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,439,623 (GRCm39) |
V400A |
possibly damaging |
Het |
| Nup205 |
T |
A |
6: 35,173,649 (GRCm39) |
|
probably null |
Het |
| Nxf1 |
T |
C |
19: 8,741,515 (GRCm39) |
|
probably null |
Het |
| Or7a36 |
A |
T |
10: 78,820,220 (GRCm39) |
M199L |
probably benign |
Het |
| P4hb |
T |
C |
11: 120,454,162 (GRCm39) |
K311E |
probably benign |
Het |
| Pafah1b1 |
T |
C |
11: 74,574,457 (GRCm39) |
N243S |
probably benign |
Het |
| Parp8 |
G |
A |
13: 117,061,504 (GRCm39) |
Q141* |
probably null |
Het |
| Pkd2l2 |
A |
C |
18: 34,568,380 (GRCm39) |
D543A |
probably benign |
Het |
| Pld5 |
A |
T |
1: 175,803,146 (GRCm39) |
L311* |
probably null |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Plpp5 |
A |
T |
8: 26,214,219 (GRCm39) |
T144S |
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,528,285 (GRCm39) |
L542S |
probably damaging |
Het |
| Prkar2b |
A |
T |
12: 32,037,973 (GRCm39) |
|
probably null |
Het |
| Psmg1 |
A |
T |
16: 95,789,171 (GRCm39) |
S129T |
possibly damaging |
Het |
| Radil |
T |
C |
5: 142,529,582 (GRCm39) |
D38G |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,578,411 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
T |
A |
14: 64,268,515 (GRCm39) |
L1367* |
probably null |
Het |
| Rxfp1 |
A |
T |
3: 79,645,100 (GRCm39) |
M1K |
probably null |
Het |
| Serpina6 |
G |
T |
12: 103,618,208 (GRCm39) |
L202I |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,676,280 (GRCm39) |
I98T |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,308,519 (GRCm39) |
Y281C |
probably damaging |
Het |
| Slc26a11 |
T |
A |
11: 119,270,767 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
T |
A |
13: 55,550,711 (GRCm39) |
|
probably null |
Het |
| Slfn10-ps |
T |
A |
11: 82,926,600 (GRCm39) |
|
noncoding transcript |
Het |
| Sohlh2 |
A |
G |
3: 55,115,163 (GRCm39) |
N383D |
probably damaging |
Het |
| Spag6 |
T |
A |
2: 18,715,302 (GRCm39) |
L27H |
probably damaging |
Het |
| Sptlc3 |
A |
G |
2: 139,388,475 (GRCm39) |
|
probably benign |
Het |
| St3gal4 |
T |
A |
9: 34,964,469 (GRCm39) |
K199* |
probably null |
Het |
| Stat5a |
T |
A |
11: 100,772,909 (GRCm39) |
D712E |
probably benign |
Het |
| Stmn2 |
A |
T |
3: 8,610,750 (GRCm39) |
D78V |
probably damaging |
Het |
| Stpg1 |
C |
T |
4: 135,233,777 (GRCm39) |
P20S |
possibly damaging |
Het |
| Taf2 |
A |
T |
15: 54,909,325 (GRCm39) |
V640E |
probably damaging |
Het |
| Tbce |
T |
C |
13: 14,172,747 (GRCm39) |
E501G |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,935,374 (GRCm39) |
S1398G |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,421,242 (GRCm39) |
Y598* |
probably null |
Het |
| Ticrr |
A |
G |
7: 79,327,088 (GRCm39) |
S599G |
probably damaging |
Het |
| Tnc |
A |
C |
4: 63,935,679 (GRCm39) |
V419G |
probably damaging |
Het |
| Trappc1 |
C |
A |
11: 69,216,402 (GRCm39) |
P110T |
probably benign |
Het |
| Trbv12-2 |
C |
T |
6: 41,095,993 (GRCm39) |
|
probably benign |
Het |
| Ttbk2 |
A |
T |
2: 120,576,264 (GRCm39) |
N835K |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,450,432 (GRCm39) |
D181G |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,932,891 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Ulk2 |
C |
A |
11: 61,678,412 (GRCm39) |
C769F |
probably benign |
Het |
| Vdac1 |
T |
C |
11: 52,265,800 (GRCm39) |
|
probably benign |
Het |
| Vmn2r124 |
T |
C |
17: 18,284,486 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
C |
16: 21,426,977 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
T |
C |
12: 9,045,625 (GRCm39) |
|
probably benign |
Het |
| Zdhhc7 |
T |
A |
8: 120,813,386 (GRCm39) |
E141V |
probably null |
Het |
| Zfp12 |
C |
A |
5: 143,230,978 (GRCm39) |
S435Y |
probably damaging |
Het |
| Zfp974 |
A |
T |
7: 27,626,819 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
T |
A |
4: 108,538,166 (GRCm39) |
K1033N |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,772,013 (GRCm39) |
S1572T |
possibly damaging |
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 |
|
|
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 |
|
R6376: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'- CTTGTGAATAGGCAGGTGTGGTGAA -3'
(R):5'- CCACCCAACCCCTGATGACTCTT -3'
Sequencing Primer
(F):5'- CAGGTGTGGTGAATAGGTTAGAATG -3'
(R):5'- actcaacctctccacctcc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation