Incidental Mutation 'R6128:Eml2'
| ID |
487508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml2
|
| Ensembl Gene |
ENSMUSG00000040811 |
| Gene Name |
echinoderm microtubule associated protein like 2 |
| Synonyms |
1600029N02Rik |
| MMRRC Submission |
044275-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6128 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| A430033K04Rik |
A |
G |
5: 138,646,038 (GRCm39) |
H641R |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Asah1 |
C |
T |
8: 41,807,092 (GRCm39) |
V111M |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,526,734 (GRCm39) |
L611P |
probably damaging |
Het |
| Atl2 |
C |
A |
17: 80,172,470 (GRCm39) |
|
probably null |
Het |
| Bhlhe22 |
A |
T |
3: 18,109,987 (GRCm39) |
S346C |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,776,313 (GRCm39) |
|
probably null |
Het |
| Bptf |
G |
T |
11: 106,965,516 (GRCm39) |
A1163D |
possibly damaging |
Het |
| Bub1b |
T |
A |
2: 118,448,293 (GRCm39) |
C382S |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,197,177 (GRCm39) |
Y158* |
probably null |
Het |
| Ccdc175 |
A |
T |
12: 72,175,933 (GRCm39) |
I473K |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,311,625 (GRCm39) |
I444V |
possibly damaging |
Het |
| Cep131 |
T |
A |
11: 119,956,801 (GRCm39) |
I880F |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,655,428 (GRCm39) |
I117N |
probably benign |
Het |
| Clk2 |
C |
T |
3: 89,081,531 (GRCm39) |
T289M |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,122,123 (GRCm39) |
D672V |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,962,588 (GRCm39) |
I73N |
probably damaging |
Het |
| Cyp2d12 |
C |
A |
15: 82,443,166 (GRCm39) |
D358E |
probably benign |
Het |
| Cyp7a1 |
A |
G |
4: 6,272,788 (GRCm39) |
S142P |
possibly damaging |
Het |
| Daw1 |
T |
A |
1: 83,183,647 (GRCm39) |
C232* |
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,353,835 (GRCm39) |
K195R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
A |
G |
19: 4,972,420 (GRCm39) |
V168A |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 64,001,563 (GRCm39) |
V459A |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,243,493 (GRCm39) |
N38K |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,069,821 (GRCm39) |
|
probably null |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Fdps |
T |
C |
3: 89,006,740 (GRCm39) |
E117G |
possibly damaging |
Het |
| Gbp4 |
A |
C |
5: 105,283,030 (GRCm39) |
V80G |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,754,335 (GRCm39) |
D179V |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,002,086 (GRCm39) |
V314E |
probably null |
Het |
| Gzmf |
G |
T |
14: 56,443,443 (GRCm39) |
Y178* |
probably null |
Het |
| Hira |
C |
T |
16: 18,751,727 (GRCm39) |
P509S |
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,454,823 (GRCm39) |
N134S |
probably benign |
Het |
| Igfbp2 |
T |
A |
1: 72,863,958 (GRCm39) |
C74S |
probably damaging |
Het |
| Il24 |
A |
G |
1: 130,813,435 (GRCm39) |
L54P |
probably damaging |
Het |
| Ints10 |
T |
C |
8: 69,274,904 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
A |
G |
1: 135,318,311 (GRCm39) |
C700R |
possibly damaging |
Het |
| Kalrn |
T |
A |
16: 34,033,255 (GRCm39) |
Q469L |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 40,750,667 (GRCm39) |
I2966L |
probably benign |
Het |
| Lta |
C |
A |
17: 35,422,817 (GRCm39) |
V169L |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,933,964 (GRCm39) |
V3554A |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,392 (GRCm39) |
|
probably benign |
Het |
| Myorg |
T |
A |
4: 41,498,445 (GRCm39) |
N395I |
probably damaging |
Het |
| Or10d1 |
C |
G |
9: 39,484,549 (GRCm39) |
R2T |
probably benign |
Het |
| Or4b1d |
A |
T |
2: 89,968,954 (GRCm39) |
C176* |
probably null |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,299 (GRCm39) |
S93P |
probably benign |
Het |
| Pacs1 |
A |
T |
19: 5,202,400 (GRCm39) |
|
probably null |
Het |
| Phf21a |
G |
T |
2: 92,181,953 (GRCm39) |
|
probably null |
Het |
| Pick1 |
T |
A |
15: 79,123,896 (GRCm39) |
M89K |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,946,152 (GRCm39) |
D558G |
possibly damaging |
Het |
| Pnma8a |
A |
G |
7: 16,694,661 (GRCm39) |
D172G |
probably benign |
Het |
| Polr2a |
A |
C |
11: 69,627,803 (GRCm39) |
V1368G |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,158,109 (GRCm39) |
|
probably null |
Het |
| Pou2f1 |
T |
C |
1: 165,703,056 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,446,018 (GRCm39) |
V284A |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,784,639 (GRCm39) |
|
probably null |
Het |
| Scamp1 |
A |
C |
13: 94,344,735 (GRCm39) |
L202R |
possibly damaging |
Het |
| Snx25 |
C |
T |
8: 46,558,240 (GRCm39) |
V110I |
probably benign |
Het |
| Spata31e2 |
G |
A |
1: 26,724,506 (GRCm39) |
P225S |
probably benign |
Het |
| Susd6 |
T |
A |
12: 80,915,388 (GRCm39) |
H124Q |
possibly damaging |
Het |
| Tarm1 |
T |
C |
7: 3,537,720 (GRCm39) |
T248A |
probably benign |
Het |
| Tc2n |
A |
G |
12: 101,675,748 (GRCm39) |
M1T |
probably null |
Het |
| Tcerg1 |
C |
A |
18: 42,644,563 (GRCm39) |
|
probably null |
Het |
| Ticrr |
C |
A |
7: 79,343,716 (GRCm39) |
P1194T |
probably damaging |
Het |
| Trim31 |
T |
G |
17: 37,220,491 (GRCm39) |
V469G |
probably benign |
Het |
| Vcp |
T |
C |
4: 42,980,941 (GRCm39) |
E723G |
probably benign |
Het |
| Vmn1r177 |
C |
A |
7: 23,565,267 (GRCm39) |
S203I |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,268 (GRCm39) |
S203C |
probably damaging |
Het |
| Vmn1r210 |
A |
T |
13: 23,012,277 (GRCm39) |
L3* |
probably null |
Het |
| Wdr27 |
T |
A |
17: 15,152,796 (GRCm39) |
R104* |
probably null |
Het |
| Wnk1 |
A |
C |
6: 119,940,747 (GRCm39) |
|
probably null |
Het |
| Zfp157 |
A |
G |
5: 138,453,281 (GRCm39) |
E88G |
possibly damaging |
Het |
| Zfp708 |
A |
T |
13: 67,222,965 (GRCm39) |
L22Q |
probably damaging |
Het |
| Zfp788 |
T |
C |
7: 41,299,785 (GRCm39) |
F787S |
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 |
|
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'- AGAAATGGGGATGGCTTCTG -3'
(R):5'- CTGTGTGACAGGCTGAGATGAAC -3'
Sequencing Primer
(F):5'- CTTCTGGTGGTTTCTGTAAGGCATC -3'
(R):5'- GGATTGAAGCAGCAGGTT -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation