Incidental Mutation 'R1531:Eml2'
| ID |
166200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml2
|
| Ensembl Gene |
ENSMUSG00000040811 |
| Gene Name |
echinoderm microtubule associated protein like 2 |
| Synonyms |
1600029N02Rik |
| MMRRC Submission |
039570-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1531 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18910346-18940407 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18930179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 300
(L300H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048502]
[ENSMUST00000117338]
[ENSMUST00000120595]
[ENSMUST00000148246]
|
| AlphaFold |
Q7TNG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048502
AA Change: L319H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: L319H
| 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: L492H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: L492H
| 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: L300H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: L300H
| 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 damaging
Transcript: ENSMUST00000148246
AA Change: L300H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811
AA Change: L300H
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
T |
A |
13: 59,648,448 (GRCm39) |
|
probably null |
Het |
| Aldh3b2 |
T |
G |
19: 4,027,543 (GRCm39) |
F28C |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,890,383 (GRCm39) |
N540S |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,047,880 (GRCm39) |
I953T |
possibly damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,624,423 (GRCm39) |
T816A |
probably damaging |
Het |
| Arid4a |
T |
A |
12: 71,122,779 (GRCm39) |
F1053L |
probably benign |
Het |
| Atxn1l |
A |
C |
8: 110,458,691 (GRCm39) |
F524V |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,233,563 (GRCm39) |
M1874K |
probably benign |
Het |
| Ccdc40 |
G |
A |
11: 119,154,015 (GRCm39) |
V1096I |
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,408,551 (GRCm39) |
D358G |
probably benign |
Het |
| Cd96 |
T |
C |
16: 45,938,169 (GRCm39) |
T99A |
probably benign |
Het |
| Cdc42ep3 |
A |
T |
17: 79,642,473 (GRCm39) |
M149K |
probably benign |
Het |
| Cgas |
A |
G |
9: 78,349,763 (GRCm39) |
Y200H |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,606,353 (GRCm39) |
E613G |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,902,381 (GRCm39) |
I2286N |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,655,654 (GRCm39) |
E459G |
possibly damaging |
Het |
| Csrp2 |
A |
T |
10: 110,771,066 (GRCm39) |
Y57F |
probably benign |
Het |
| Ctdspl |
C |
T |
9: 118,869,650 (GRCm39) |
P244L |
probably damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,313,412 (GRCm39) |
R303G |
probably damaging |
Het |
| Cyp4a10 |
C |
A |
4: 115,375,632 (GRCm39) |
Y38* |
probably null |
Het |
| Dmgdh |
T |
A |
13: 93,880,919 (GRCm39) |
I783N |
probably damaging |
Het |
| Efcc1 |
G |
A |
6: 87,708,148 (GRCm39) |
E92K |
probably benign |
Het |
| Eif2ak4 |
T |
A |
2: 118,273,691 (GRCm39) |
L872H |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,764,461 (GRCm39) |
S603T |
probably benign |
Het |
| Esp3 |
A |
G |
17: 40,946,827 (GRCm39) |
K50R |
possibly damaging |
Het |
| Esrp1 |
A |
G |
4: 11,379,375 (GRCm39) |
F136L |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,707,011 (GRCm39) |
D497E |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,908,761 (GRCm39) |
S2414P |
probably damaging |
Het |
| Foxj3 |
C |
T |
4: 119,477,398 (GRCm39) |
P369S |
unknown |
Het |
| Gkn2 |
G |
T |
6: 87,352,921 (GRCm39) |
|
probably null |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21905 |
A |
T |
5: 68,103,724 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
T |
A |
12: 24,632,962 (GRCm39) |
|
probably null |
Het |
| Grk6 |
A |
G |
13: 55,599,967 (GRCm39) |
Y221C |
probably damaging |
Het |
| Hcrtr1 |
T |
A |
4: 130,024,720 (GRCm39) |
K389* |
probably null |
Het |
| Hk1 |
G |
A |
10: 62,120,563 (GRCm39) |
R545C |
probably damaging |
Het |
| Hsp90b1 |
A |
T |
10: 86,532,659 (GRCm39) |
I339N |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,381,272 (GRCm39) |
R103G |
probably damaging |
Het |
| Itgad |
A |
C |
7: 127,777,542 (GRCm39) |
I141L |
probably benign |
Het |
| Jmjd6 |
T |
A |
11: 116,733,266 (GRCm39) |
Y137F |
probably benign |
Het |
| Kcna1 |
A |
G |
6: 126,619,030 (GRCm39) |
V430A |
probably benign |
Het |
| Kel |
A |
G |
6: 41,665,560 (GRCm39) |
V520A |
probably damaging |
Het |
| Klhl41 |
G |
A |
2: 69,501,084 (GRCm39) |
V182I |
probably benign |
Het |
| Ldhb |
C |
A |
6: 142,447,121 (GRCm39) |
M64I |
probably benign |
Het |
| Lrrc23 |
A |
G |
6: 124,753,077 (GRCm39) |
S190P |
possibly damaging |
Het |
| Mboat2 |
T |
C |
12: 25,009,029 (GRCm39) |
V445A |
probably benign |
Het |
| Mlycd |
G |
A |
8: 120,128,258 (GRCm39) |
W188* |
probably null |
Het |
| Mpp3 |
C |
T |
11: 101,899,475 (GRCm39) |
E349K |
probably benign |
Het |
| Mtres1 |
A |
G |
10: 43,401,316 (GRCm39) |
V211A |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,141,366 (GRCm39) |
M780V |
probably benign |
Het |
| Myh6 |
G |
A |
14: 55,193,963 (GRCm39) |
R809C |
probably damaging |
Het |
| Mylip |
G |
A |
13: 45,560,046 (GRCm39) |
V161M |
possibly damaging |
Het |
| Nrp1 |
G |
A |
8: 129,152,450 (GRCm39) |
V220I |
probably null |
Het |
| Nup210 |
A |
T |
6: 91,011,823 (GRCm39) |
N455K |
probably benign |
Het |
| Or14j10 |
A |
T |
17: 37,935,243 (GRCm39) |
Y94* |
probably null |
Het |
| Or51f1d |
C |
A |
7: 102,700,795 (GRCm39) |
Q97K |
probably benign |
Het |
| Pbld2 |
G |
T |
10: 62,889,732 (GRCm39) |
|
probably null |
Het |
| Pclo |
C |
G |
5: 14,571,917 (GRCm39) |
P434R |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 46,349,800 (GRCm39) |
K37E |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,589,970 (GRCm39) |
I2611N |
probably benign |
Het |
| Prr12 |
T |
C |
7: 44,677,954 (GRCm39) |
D2019G |
unknown |
Het |
| Rab27a |
A |
G |
9: 73,002,685 (GRCm39) |
T205A |
probably benign |
Het |
| Rcan3 |
A |
G |
4: 135,152,595 (GRCm39) |
L42P |
probably damaging |
Het |
| Rchy1 |
T |
C |
5: 92,103,474 (GRCm39) |
|
probably null |
Het |
| Sema6a |
T |
C |
18: 47,382,066 (GRCm39) |
H827R |
probably damaging |
Het |
| Sertad4 |
A |
G |
1: 192,533,258 (GRCm39) |
|
probably null |
Het |
| Smarcd1 |
T |
A |
15: 99,605,264 (GRCm39) |
C282S |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,377,866 (GRCm39) |
T769A |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,297,875 (GRCm39) |
K1141* |
probably null |
Het |
| Synpo2 |
T |
C |
3: 122,911,315 (GRCm39) |
E110G |
probably benign |
Het |
| Tg |
T |
A |
15: 66,722,351 (GRCm39) |
D333E |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,436,955 (GRCm39) |
Y148C |
probably damaging |
Het |
| Tmem215 |
T |
A |
4: 40,473,965 (GRCm39) |
V14E |
probably damaging |
Het |
| Tmem229b |
A |
G |
12: 79,011,685 (GRCm39) |
L82P |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,013,039 (GRCm39) |
T97A |
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,565,397 (GRCm39) |
R965* |
probably null |
Het |
| Trio |
T |
C |
15: 27,833,071 (GRCm39) |
I104V |
probably benign |
Het |
| Trp73 |
A |
G |
4: 154,148,352 (GRCm39) |
F354S |
probably benign |
Het |
| Ttyh2 |
T |
C |
11: 114,577,278 (GRCm39) |
L63P |
probably damaging |
Het |
| Ulk4 |
G |
C |
9: 120,873,841 (GRCm39) |
P1197A |
probably damaging |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,536 (GRCm39) |
M206V |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,285,226 (GRCm39) |
Y402* |
probably null |
Het |
| Zbtb41 |
A |
G |
1: 139,350,931 (GRCm39) |
I15V |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,284,170 (GRCm39) |
I982V |
possibly damaging |
Het |
| Zmynd19 |
T |
A |
2: 24,848,123 (GRCm39) |
N106K |
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 |
|
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'- GATGGGTAGTGTGTTCGAGACCAAG -3'
(R):5'- CAAGCAGCGAAAACCCTGTGTG -3'
Sequencing Primer
(F):5'- TGTGTTCGAGACCAAGAGAGAC -3'
(R):5'- AAGTCCTCTGGGACCTGAGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation