Incidental Mutation 'R7260:Eml2'
| ID |
564533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml2
|
| Ensembl Gene |
ENSMUSG00000040811 |
| Gene Name |
echinoderm microtubule associated protein like 2 |
| Synonyms |
1600029N02Rik |
| MMRRC Submission |
045352-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7260 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18910346-18940407 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18934515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 405
(S405G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048502]
[ENSMUST00000117338]
[ENSMUST00000120595]
[ENSMUST00000148246]
|
| AlphaFold |
Q7TNG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048502
AA Change: S424G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: S424G
| 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: S597G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: S597G
| 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 benign
Transcript: ENSMUST00000120595
AA Change: S405G
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: S405G
| 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
AA Change: S405G
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811
AA Change: S405G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (78/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
G |
10: 28,849,882 (GRCm39) |
S293P |
probably benign |
Het |
| Actn2 |
T |
C |
13: 12,291,376 (GRCm39) |
N676S |
probably benign |
Het |
| Amfr |
C |
T |
8: 94,702,776 (GRCm39) |
M463I |
possibly damaging |
Het |
| Ankdd1a |
G |
T |
9: 65,411,834 (GRCm39) |
A325D |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,389,493 (GRCm39) |
D463G |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 67,933,637 (GRCm39) |
V755A |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,310,533 (GRCm39) |
F796I |
|
Het |
| Ccnt1 |
G |
A |
15: 98,463,005 (GRCm39) |
Q56* |
probably null |
Het |
| Cd248 |
T |
A |
19: 5,119,383 (GRCm39) |
Y410* |
probably null |
Het |
| Chd9 |
T |
A |
8: 91,721,171 (GRCm39) |
N986K |
unknown |
Het |
| Col6a6 |
T |
C |
9: 105,661,168 (GRCm39) |
T314A |
probably benign |
Het |
| Cpped1 |
A |
G |
16: 11,646,327 (GRCm39) |
F142L |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,050,574 (GRCm39) |
A2221T |
probably damaging |
Het |
| Cyp2c69 |
C |
A |
19: 39,831,344 (GRCm39) |
V490L |
probably benign |
Het |
| Cyrib |
A |
T |
15: 63,829,438 (GRCm39) |
F23L |
possibly damaging |
Het |
| Dcst2 |
T |
C |
3: 89,273,593 (GRCm39) |
F157S |
probably damaging |
Het |
| Ddx54 |
G |
T |
5: 120,764,985 (GRCm39) |
R788L |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,991,343 (GRCm39) |
Y3145C |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,534,309 (GRCm39) |
R2320W |
probably damaging |
Het |
| Dnai3 |
T |
A |
3: 145,752,295 (GRCm39) |
M794L |
probably benign |
Het |
| Emilin2 |
T |
C |
17: 71,581,785 (GRCm39) |
T314A |
probably benign |
Het |
| Ephb2 |
A |
G |
4: 136,498,885 (GRCm39) |
F65L |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,199,188 (GRCm39) |
D1360G |
probably benign |
Het |
| Fbxo22 |
A |
G |
9: 55,125,754 (GRCm39) |
T206A |
probably benign |
Het |
| Filip1l |
A |
G |
16: 57,391,287 (GRCm39) |
E625G |
probably damaging |
Het |
| Gen1 |
A |
C |
12: 11,306,849 (GRCm39) |
M172R |
probably damaging |
Het |
| Gk5 |
A |
G |
9: 96,001,663 (GRCm39) |
K54E |
probably benign |
Het |
| Glis3 |
T |
C |
19: 28,508,802 (GRCm39) |
E394G |
probably benign |
Het |
| Helq |
T |
A |
5: 100,939,793 (GRCm39) |
E373D |
probably damaging |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,372 (GRCm39) |
F83L |
probably benign |
Het |
| Ints15 |
A |
G |
5: 143,297,594 (GRCm39) |
V151A |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,161,397 (GRCm39) |
Y197H |
probably benign |
Het |
| Kdm4d |
T |
C |
9: 14,374,454 (GRCm39) |
D468G |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,927,610 (GRCm39) |
I957M |
probably damaging |
Het |
| Ldhal6b |
A |
G |
17: 5,468,535 (GRCm39) |
F133S |
possibly damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,420,338 (GRCm39) |
Y321H |
possibly damaging |
Het |
| Ltbp1 |
A |
T |
17: 75,373,139 (GRCm39) |
M261L |
probably benign |
Het |
| Mical2 |
A |
T |
7: 111,919,001 (GRCm39) |
Q430L |
probably benign |
Het |
| Mroh4 |
A |
T |
15: 74,479,978 (GRCm39) |
N885K |
possibly damaging |
Het |
| Ms4a7 |
A |
G |
19: 11,299,710 (GRCm39) |
Y231H |
probably damaging |
Het |
| Msh2 |
G |
T |
17: 88,025,047 (GRCm39) |
V642F |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,396,385 (GRCm39) |
A166S |
unknown |
Het |
| Myo18b |
T |
C |
5: 112,923,154 (GRCm39) |
I1868V |
probably benign |
Het |
| Nfatc3 |
T |
C |
8: 106,835,578 (GRCm39) |
S975P |
probably benign |
Het |
| Oacyl |
T |
C |
18: 65,831,438 (GRCm39) |
L25P |
probably damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,731 (GRCm39) |
N189S |
probably damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,388 (GRCm39) |
F258S |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,852 (GRCm39) |
|
probably null |
Het |
| Or6c69 |
T |
A |
10: 129,748,156 (GRCm39) |
|
probably benign |
Het |
| Or8a1 |
T |
A |
9: 37,642,049 (GRCm39) |
I77F |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,304,970 (GRCm39) |
I275V |
possibly damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,117,673 (GRCm39) |
R1674Q |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phkb |
T |
A |
8: 86,604,759 (GRCm39) |
Y55N |
probably benign |
Het |
| Pias4 |
A |
G |
10: 80,993,302 (GRCm39) |
V207A |
possibly damaging |
Het |
| Plxna4 |
C |
A |
6: 32,216,455 (GRCm39) |
R540L |
possibly damaging |
Het |
| Psapl1 |
G |
A |
5: 36,362,556 (GRCm39) |
V383M |
probably benign |
Het |
| Rars1 |
C |
A |
11: 35,725,281 (GRCm39) |
A10S |
probably benign |
Het |
| Rhobtb1 |
A |
T |
10: 69,106,610 (GRCm39) |
K454* |
probably null |
Het |
| Rmnd1 |
A |
T |
10: 4,364,803 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
| Rngtt |
T |
C |
4: 33,356,176 (GRCm39) |
S338P |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,025,681 (GRCm39) |
E189G |
unknown |
Het |
| Slc30a3 |
G |
A |
5: 31,245,690 (GRCm39) |
T281I |
probably damaging |
Het |
| Smok3c |
T |
A |
5: 138,063,885 (GRCm39) |
D457E |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,537,419 (GRCm39) |
Q4274K |
possibly damaging |
Het |
| Syne2 |
G |
T |
12: 75,991,853 (GRCm39) |
L1938F |
probably damaging |
Het |
| Tmem70 |
C |
A |
1: 16,735,590 (GRCm39) |
T20K |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,785,813 (GRCm39) |
E1502G |
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,396,704 (GRCm39) |
S438T |
probably benign |
Het |
| Tubb2a |
T |
A |
13: 34,259,397 (GRCm39) |
Q131L |
probably damaging |
Het |
| Ube2v1 |
A |
G |
2: 167,471,114 (GRCm39) |
S26P |
probably benign |
Het |
| Unc13a |
G |
T |
8: 72,113,229 (GRCm39) |
S207R |
possibly damaging |
Het |
| Usp35 |
T |
G |
7: 96,969,286 (GRCm39) |
D362A |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,587,334 (GRCm39) |
I2487T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,694,359 (GRCm39) |
H496L |
probably benign |
Het |
| Vmn2r92 |
C |
T |
17: 18,387,138 (GRCm39) |
A159V |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,578,085 (GRCm39) |
K467E |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,461 (GRCm39) |
T403A |
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,819,843 (GRCm39) |
L416P |
probably 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 |
|
|
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 |
|
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 |
|
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'- GACTTCTTACTACTGTGCTCAGG -3'
(R):5'- AAGCCATCCCCATTTCTTGG -3'
Sequencing Primer
(F):5'- TCACACACATATATACACATACATGC -3'
(R):5'- TCTCTCAGTCATGCCATAAGAGGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation