Incidental Mutation 'R0240:Eml2'
| ID |
59309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml2
|
| Ensembl Gene |
ENSMUSG00000040811 |
| Gene Name |
echinoderm microtubule associated protein like 2 |
| Synonyms |
1600029N02Rik |
| MMRRC Submission |
038478-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0240 (G1)
|
| Quality Score |
164 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19176421-19206482 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 19184872 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 82
(Y82*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048502]
[ENSMUST00000117338]
[ENSMUST00000120595]
[ENSMUST00000141718]
[ENSMUST00000144054]
[ENSMUST00000148246]
|
| AlphaFold |
Q7TNG5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048502
AA Change: Y101*
|
| SMART Domains |
Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: Y101*
| 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 |
noncoding transcript
Transcript: ENSMUST00000083609
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117338
AA Change: Y274*
|
| SMART Domains |
Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: Y274*
| 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 null
Transcript: ENSMUST00000120595
AA Change: Y82*
|
| SMART Domains |
Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: Y82*
| 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
AA Change: Y67*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141792
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144054
AA Change: Y67*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146095
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148246
AA Change: Y82*
|
| SMART Domains |
Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811
AA Change: Y82*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
100% (112/112) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
T |
C |
8: 122,780,181 (GRCm38) |
L71P |
probably damaging |
Het |
| Adamts2 |
A |
T |
11: 50,775,374 (GRCm38) |
D399V |
probably damaging |
Het |
| Adck2 |
T |
A |
6: 39,583,818 (GRCm38) |
V380E |
probably benign |
Het |
| Alg11 |
T |
A |
8: 22,065,452 (GRCm38) |
V243D |
possibly damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,619,439 (GRCm38) |
L585Q |
probably damaging |
Het |
| Armh4 |
A |
G |
14: 49,768,402 (GRCm38) |
|
probably benign |
Het |
| Atp7a |
T |
A |
X: 106,109,841 (GRCm38) |
N1117K |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 27,895,870 (GRCm38) |
|
probably benign |
Het |
| Cacna1b |
G |
A |
2: 24,638,657 (GRCm38) |
|
probably benign |
Het |
| Cacna1d |
T |
A |
14: 30,096,969 (GRCm38) |
M1210L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,073,496 (GRCm38) |
|
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,852,670 (GRCm38) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,652,033 (GRCm38) |
S1858T |
probably benign |
Het |
| Cotl1 |
C |
T |
8: 119,840,324 (GRCm38) |
W26* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,629,239 (GRCm38) |
T3000A |
probably benign |
Het |
| Dcp1a |
T |
A |
14: 30,484,594 (GRCm38) |
|
probably benign |
Het |
| Ddhd2 |
A |
T |
8: 25,739,590 (GRCm38) |
|
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,765,679 (GRCm38) |
I3117T |
probably damaging |
Het |
| Dnm3 |
G |
T |
1: 162,353,625 (GRCm38) |
Q162K |
probably benign |
Het |
| Dpy19l2 |
G |
T |
9: 24,658,580 (GRCm38) |
A359D |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,949,435 (GRCm38) |
|
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 138,170,562 (GRCm38) |
K1025R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,792,367 (GRCm38) |
V1057A |
possibly damaging |
Het |
| Eral1 |
A |
G |
11: 78,076,058 (GRCm38) |
|
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,312,541 (GRCm38) |
S911P |
probably benign |
Het |
| Fbxo8 |
A |
G |
8: 56,590,261 (GRCm38) |
|
probably benign |
Het |
| Flrt1 |
A |
T |
19: 7,097,110 (GRCm38) |
|
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,858,919 (GRCm38) |
|
probably benign |
Het |
| G3bp1 |
G |
A |
11: 55,492,028 (GRCm38) |
G139D |
probably damaging |
Het |
| Gabra6 |
C |
T |
11: 42,314,947 (GRCm38) |
V351I |
probably benign |
Het |
| Galc |
A |
T |
12: 98,252,034 (GRCm38) |
H186Q |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,912,813 (GRCm38) |
D702G |
possibly damaging |
Het |
| Gm13762 |
A |
T |
2: 88,973,396 (GRCm38) |
L165Q |
probably damaging |
Het |
| Hdac10 |
T |
C |
15: 89,125,882 (GRCm38) |
E291G |
possibly damaging |
Het |
| Hectd3 |
T |
G |
4: 117,002,613 (GRCm38) |
V749G |
probably damaging |
Het |
| Kash5 |
C |
T |
7: 45,200,251 (GRCm38) |
A83T |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,505,340 (GRCm38) |
I703N |
probably benign |
Het |
| Kcnma1 |
G |
A |
14: 23,494,579 (GRCm38) |
T505I |
probably damaging |
Het |
| Kctd11 |
A |
G |
11: 69,879,814 (GRCm38) |
C133R |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,539,823 (GRCm38) |
|
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,335,027 (GRCm38) |
L842P |
probably damaging |
Het |
| Ldlr |
T |
C |
9: 21,737,999 (GRCm38) |
|
probably benign |
Het |
| Lipk |
G |
A |
19: 34,046,810 (GRCm38) |
R336H |
probably benign |
Het |
| Lrrc24 |
T |
A |
15: 76,723,209 (GRCm38) |
D58V |
probably damaging |
Het |
| Lrsam1 |
A |
G |
2: 32,955,185 (GRCm38) |
L106P |
probably damaging |
Het |
| Milr1 |
G |
A |
11: 106,754,896 (GRCm38) |
W88* |
probably null |
Het |
| Mmp10 |
A |
G |
9: 7,506,543 (GRCm38) |
D340G |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,555,738 (GRCm38) |
Y285F |
possibly damaging |
Het |
| Ncoa3 |
A |
G |
2: 166,054,400 (GRCm38) |
T408A |
probably benign |
Het |
| Nefm |
T |
A |
14: 68,121,134 (GRCm38) |
K484* |
probably null |
Het |
| Nfasc |
A |
G |
1: 132,601,983 (GRCm38) |
S814P |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,462,516 (GRCm38) |
V863A |
probably benign |
Het |
| Nos1 |
C |
T |
5: 117,867,883 (GRCm38) |
P223S |
probably benign |
Het |
| Nr2f2 |
G |
C |
7: 70,360,175 (GRCm38) |
P52R |
probably damaging |
Het |
| Or13c7 |
T |
A |
4: 43,854,512 (GRCm38) |
S68T |
probably damaging |
Het |
| Or5an6 |
A |
T |
19: 12,394,963 (GRCm38) |
E233D |
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,483,386 (GRCm38) |
S119P |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,741,669 (GRCm38) |
|
probably null |
Het |
| Otog |
C |
A |
7: 46,264,032 (GRCm38) |
|
probably null |
Het |
| Pacs1 |
A |
T |
19: 5,156,374 (GRCm38) |
I261N |
possibly damaging |
Het |
| Pbx1 |
G |
A |
1: 168,203,482 (GRCm38) |
T189I |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,947,018 (GRCm38) |
I908T |
possibly damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,879,445 (GRCm38) |
W124R |
probably damaging |
Het |
| Phex |
C |
A |
X: 157,186,218 (GRCm38) |
D587Y |
probably damaging |
Het |
| Plcb3 |
A |
T |
19: 6,962,995 (GRCm38) |
D435E |
probably benign |
Het |
| Plce1 |
A |
C |
19: 38,728,886 (GRCm38) |
K1373T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,602,088 (GRCm38) |
A311V |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,232,374 (GRCm38) |
S421T |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,436,087 (GRCm38) |
|
probably null |
Het |
| Qrich1 |
A |
G |
9: 108,534,134 (GRCm38) |
D286G |
probably damaging |
Het |
| Rcc1 |
C |
A |
4: 132,332,915 (GRCm38) |
G393V |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,106,045 (GRCm38) |
N290S |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,554,424 (GRCm38) |
|
probably benign |
Het |
| Rhpn1 |
C |
T |
15: 75,714,122 (GRCm38) |
T628I |
probably benign |
Het |
| Rilp |
A |
G |
11: 75,510,921 (GRCm38) |
R176G |
probably benign |
Het |
| Riok3 |
C |
T |
18: 12,155,227 (GRCm38) |
A487V |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,236,207 (GRCm38) |
T45A |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,328,687 (GRCm38) |
V137A |
probably benign |
Het |
| Rps6ka1 |
C |
A |
4: 133,848,531 (GRCm38) |
Q693H |
probably benign |
Het |
| Scn2a |
G |
T |
2: 65,735,774 (GRCm38) |
V1381F |
probably benign |
Het |
| Scp2 |
T |
A |
4: 108,098,078 (GRCm38) |
H112L |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,998,747 (GRCm38) |
W696R |
probably damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,532,651 (GRCm38) |
V408F |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,454,527 (GRCm38) |
I332N |
probably benign |
Het |
| Slc37a3 |
A |
G |
6: 39,337,238 (GRCm38) |
V480A |
probably benign |
Het |
| Slc45a4 |
T |
A |
15: 73,581,906 (GRCm38) |
E674D |
probably benign |
Het |
| Smpd3 |
T |
C |
8: 106,265,156 (GRCm38) |
E255G |
probably damaging |
Het |
| Snx29 |
C |
T |
16: 11,660,553 (GRCm38) |
R658W |
probably damaging |
Het |
| Sppl2a |
A |
T |
2: 126,920,336 (GRCm38) |
M275K |
probably benign |
Het |
| Stac |
T |
C |
9: 111,635,021 (GRCm38) |
N59S |
probably damaging |
Het |
| Stk25 |
A |
T |
1: 93,627,060 (GRCm38) |
L131Q |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 50,863,029 (GRCm38) |
|
probably benign |
Het |
| Thbs1 |
C |
A |
2: 118,114,393 (GRCm38) |
N229K |
probably damaging |
Het |
| Tmx2 |
A |
T |
2: 84,675,842 (GRCm38) |
H89Q |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,038,213 (GRCm38) |
H239Y |
probably benign |
Het |
| Tradd |
T |
C |
8: 105,259,292 (GRCm38) |
N209S |
possibly damaging |
Het |
| Trappc3l |
A |
T |
10: 34,098,932 (GRCm38) |
R119* |
probably null |
Het |
| Trmt1l |
G |
A |
1: 151,457,454 (GRCm38) |
|
probably benign |
Het |
| Ublcp1 |
G |
T |
11: 44,458,277 (GRCm38) |
Y243* |
probably null |
Het |
| Usp24 |
C |
A |
4: 106,414,404 (GRCm38) |
C2158* |
probably null |
Het |
| Usp34 |
A |
T |
11: 23,433,206 (GRCm38) |
K2088N |
probably damaging |
Het |
| Vmn1r53 |
G |
C |
6: 90,223,943 (GRCm38) |
S133C |
probably damaging |
Het |
| Vmn2r52 |
A |
G |
7: 10,159,400 (GRCm38) |
V604A |
probably damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,304,799 (GRCm38) |
K240E |
probably benign |
Het |
| Wdr13 |
T |
G |
X: 8,128,045 (GRCm38) |
D242A |
probably damaging |
Het |
| Wwp1 |
C |
T |
4: 19,641,734 (GRCm38) |
|
probably null |
Het |
| Zan |
G |
A |
5: 137,398,362 (GRCm38) |
H4311Y |
unknown |
Het |
| Zc3h12c |
C |
A |
9: 52,144,083 (GRCm38) |
R123L |
possibly damaging |
Het |
| Zfp125 |
A |
T |
12: 20,900,561 (GRCm38) |
|
noncoding transcript |
Het |
| Zfp318 |
C |
T |
17: 46,396,813 (GRCm38) |
P266S |
probably benign |
Het |
|
| Other mutations in Eml2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00690:Eml2
|
APN |
7 |
19,206,143 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00786:Eml2
|
APN |
7 |
19,202,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01084:Eml2
|
APN |
7 |
19,190,738 (GRCm38) |
nonsense |
probably null |
|
|
IGL01132:Eml2
|
APN |
7 |
19,200,539 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01678:Eml2
|
APN |
7 |
19,186,122 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL01800:Eml2
|
APN |
7 |
19,201,197 (GRCm38) |
intron |
probably benign |
|
|
IGL02517:Eml2
|
APN |
7 |
19,206,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02607:Eml2
|
APN |
7 |
19,206,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02676:Eml2
|
APN |
7 |
19,184,921 (GRCm38) |
nonsense |
probably null |
|
|
IGL03082:Eml2
|
APN |
7 |
19,201,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
puffery
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0628_Eml2_697
|
UTSW |
7 |
19,201,554 (GRCm38) |
splice site |
probably benign |
|
|
R0040:Eml2
|
UTSW |
7 |
19,196,614 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R0135:Eml2
|
UTSW |
7 |
19,203,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0240:Eml2
|
UTSW |
7 |
19,184,872 (GRCm38) |
nonsense |
probably null |
|
|
R0362:Eml2
|
UTSW |
7 |
19,190,806 (GRCm38) |
splice site |
probably null |
|
|
R0387:Eml2
|
UTSW |
7 |
19,182,259 (GRCm38) |
splice site |
probably null |
|
|
R0432:Eml2
|
UTSW |
7 |
19,179,531 (GRCm38) |
nonsense |
probably null |
|
|
R0614:Eml2
|
UTSW |
7 |
19,202,591 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0628:Eml2
|
UTSW |
7 |
19,201,554 (GRCm38) |
splice site |
probably benign |
|
|
R1078:Eml2
|
UTSW |
7 |
19,179,762 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1531:Eml2
|
UTSW |
7 |
19,196,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1856:Eml2
|
UTSW |
7 |
19,194,061 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1864:Eml2
|
UTSW |
7 |
19,201,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1937:Eml2
|
UTSW |
7 |
19,203,964 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R2032:Eml2
|
UTSW |
7 |
19,202,555 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2185:Eml2
|
UTSW |
7 |
19,194,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2419:Eml2
|
UTSW |
7 |
19,176,695 (GRCm38) |
unclassified |
probably benign |
|
|
R3821:Eml2
|
UTSW |
7 |
19,202,986 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4199:Eml2
|
UTSW |
7 |
19,179,439 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4411:Eml2
|
UTSW |
7 |
19,182,401 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4497:Eml2
|
UTSW |
7 |
19,179,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4885:Eml2
|
UTSW |
7 |
19,204,010 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4912:Eml2
|
UTSW |
7 |
19,193,999 (GRCm38) |
splice site |
probably null |
|
|
R5028:Eml2
|
UTSW |
7 |
19,179,447 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5192:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5196:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5373:Eml2
|
UTSW |
7 |
19,179,263 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5718:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5719:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5720:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5727:Eml2
|
UTSW |
7 |
19,190,760 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5841:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5842:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5843:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5844:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6014:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6015:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6017:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6073:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6075:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6126:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6128:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6129:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6189:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6190:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6258:Eml2
|
UTSW |
7 |
19,179,364 (GRCm38) |
splice site |
probably null |
|
|
R6273:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6289:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6376:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6378:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6381:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6384:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6394:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6435:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6436:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6437:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6476:Eml2
|
UTSW |
7 |
19,196,311 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6550:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6551:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6552:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6554:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6572:Eml2
|
UTSW |
7 |
19,196,614 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6598:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6599:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6704:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6705:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6709:Eml2
|
UTSW |
7 |
19,206,211 (GRCm38) |
makesense |
probably null |
|
|
R6730:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6734:Eml2
|
UTSW |
7 |
19,200,507 (GRCm38) |
missense |
probably benign |
0.35 |
|
R6742:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6769:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6770:Eml2
|
UTSW |
7 |
19,201,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6864:Eml2
|
UTSW |
7 |
19,196,281 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6878:Eml2
|
UTSW |
7 |
19,200,612 (GRCm38) |
missense |
probably benign |
0.08 |
|
R7045:Eml2
|
UTSW |
7 |
19,201,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7260:Eml2
|
UTSW |
7 |
19,200,590 (GRCm38) |
missense |
probably benign |
0.45 |
|
R7478:Eml2
|
UTSW |
7 |
19,206,141 (GRCm38) |
nonsense |
probably null |
|
|
R7706:Eml2
|
UTSW |
7 |
19,186,110 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7811:Eml2
|
UTSW |
7 |
19,186,122 (GRCm38) |
missense |
probably benign |
0.38 |
|
R8084:Eml2
|
UTSW |
7 |
19,181,224 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8337:Eml2
|
UTSW |
7 |
19,196,236 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R8414:Eml2
|
UTSW |
7 |
19,179,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8868:Eml2
|
UTSW |
7 |
19,194,063 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8934:Eml2
|
UTSW |
7 |
19,179,813 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9110:Eml2
|
UTSW |
7 |
19,191,695 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9131:Eml2
|
UTSW |
7 |
19,184,826 (GRCm38) |
missense |
|
|
|
R9144:Eml2
|
UTSW |
7 |
19,201,639 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R9261:Eml2
|
UTSW |
7 |
19,179,818 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9285:Eml2
|
UTSW |
7 |
19,191,643 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9767:Eml2
|
UTSW |
7 |
19,186,158 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAACATTCCAGCAGCCTTAGGACTCC -3'
(R):5'- CACTAGTTTCCCCTTGGGATCTGGTGG -3'
Sequencing Primer
(F):5'- AGGACTCCCTCCCATTCAG -3'
(R):5'- AGAGGTTTGGCAACAGCCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation