Incidental Mutation 'R0538:Eml6'
ID |
49611 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml6
|
Ensembl Gene |
ENSMUSG00000044072 |
Gene Name |
echinoderm microtubule associated protein like 6 |
Synonyms |
2900083P10Rik, C230094A16Rik |
MMRRC Submission |
038730-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R0538 (G1)
|
Quality Score |
191 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
29693048-29976033 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 29710010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058902]
[ENSMUST00000137689]
|
AlphaFold |
Q5SQM0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058902
|
SMART Domains |
Protein: ENSMUSP00000051080 Gene: ENSMUSG00000044072
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
WD40
|
49 |
91 |
1.79e-1 |
SMART |
WD40
|
94 |
136 |
1.42e-4 |
SMART |
WD40
|
139 |
178 |
5.31e-4 |
SMART |
WD40
|
184 |
224 |
8.84e1 |
SMART |
WD40
|
225 |
263 |
3.75e-4 |
SMART |
WD40
|
313 |
353 |
4.69e-5 |
SMART |
WD40
|
356 |
394 |
2.22e0 |
SMART |
WD40
|
397 |
436 |
1.72e0 |
SMART |
WD40
|
505 |
546 |
1.7e2 |
SMART |
WD40
|
552 |
592 |
4.55e-3 |
SMART |
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
Pfam:HELP
|
653 |
715 |
1.9e-22 |
PFAM |
WD40
|
716 |
757 |
9.24e-1 |
SMART |
WD40
|
760 |
802 |
6.53e-4 |
SMART |
WD40
|
805 |
844 |
2.98e-1 |
SMART |
WD40
|
856 |
891 |
8.52e1 |
SMART |
WD40
|
892 |
929 |
2.09e-2 |
SMART |
WD40
|
986 |
1026 |
1.18e-1 |
SMART |
WD40
|
1032 |
1068 |
3.44e0 |
SMART |
WD40
|
1071 |
1111 |
2.58e-1 |
SMART |
WD40
|
1180 |
1221 |
9.24e-1 |
SMART |
WD40
|
1227 |
1267 |
3.85e-1 |
SMART |
low complexity region
|
1280 |
1291 |
N/A |
INTRINSIC |
Pfam:HELP
|
1329 |
1402 |
5e-15 |
PFAM |
WD40
|
1404 |
1447 |
2.66e0 |
SMART |
WD40
|
1450 |
1492 |
1.85e0 |
SMART |
WD40
|
1495 |
1534 |
2.97e0 |
SMART |
WD40
|
1543 |
1582 |
7.1e1 |
SMART |
WD40
|
1584 |
1629 |
9.51e1 |
SMART |
WD40
|
1675 |
1715 |
3.05e-4 |
SMART |
WD40
|
1718 |
1758 |
8.84e1 |
SMART |
WD40
|
1759 |
1798 |
7.16e-1 |
SMART |
WD40
|
1869 |
1910 |
1.53e1 |
SMART |
WD40
|
1916 |
1956 |
4.62e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123881
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137689
|
SMART Domains |
Protein: ENSMUSP00000116197 Gene: ENSMUSG00000044072
Domain | Start | End | E-Value | Type |
SCOP:d2bbkh_
|
14 |
72 |
9e-8 |
SMART |
Blast:WD40
|
22 |
64 |
1e-24 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
Validation Efficiency |
98% (126/129) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 129 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I07Rik |
A |
T |
14: 67,175,823 (GRCm39) |
H6L |
unknown |
Het |
Abca13 |
G |
A |
11: 9,217,622 (GRCm39) |
|
probably null |
Het |
Acad12 |
C |
T |
5: 121,745,511 (GRCm39) |
R260Q |
possibly damaging |
Het |
Actn1 |
G |
A |
12: 80,306,874 (GRCm39) |
|
probably benign |
Het |
Acvrl1 |
A |
G |
15: 101,034,030 (GRCm39) |
T182A |
probably damaging |
Het |
Adam23 |
T |
C |
1: 63,607,003 (GRCm39) |
|
probably benign |
Het |
Adamtsl1 |
A |
T |
4: 86,261,358 (GRCm39) |
T1190S |
probably benign |
Het |
Adh6b |
A |
T |
3: 138,063,411 (GRCm39) |
Y330F |
probably benign |
Het |
Ak7 |
A |
G |
12: 105,732,876 (GRCm39) |
E540G |
probably damaging |
Het |
Akr1c19 |
T |
A |
13: 4,287,099 (GRCm39) |
L106Q |
probably damaging |
Het |
Ankrd12 |
A |
T |
17: 66,356,847 (GRCm39) |
S57T |
probably damaging |
Het |
Aoc3 |
G |
A |
11: 101,222,964 (GRCm39) |
R400Q |
possibly damaging |
Het |
Arel1 |
A |
T |
12: 84,988,611 (GRCm39) |
I46N |
probably damaging |
Het |
Armc5 |
A |
G |
7: 127,843,463 (GRCm39) |
D752G |
probably damaging |
Het |
Atp11b |
T |
C |
3: 35,891,163 (GRCm39) |
V812A |
probably damaging |
Het |
Axin1 |
A |
G |
17: 26,403,215 (GRCm39) |
H131R |
possibly damaging |
Het |
Bpifb3 |
A |
G |
2: 153,765,789 (GRCm39) |
E184G |
probably benign |
Het |
Cacna2d2 |
T |
C |
9: 107,401,582 (GRCm39) |
|
probably benign |
Het |
Catsperd |
T |
C |
17: 56,969,828 (GRCm39) |
F641L |
probably benign |
Het |
Ccdc83 |
A |
C |
7: 89,877,591 (GRCm39) |
L284V |
probably damaging |
Het |
Ccn2 |
T |
A |
10: 24,472,364 (GRCm39) |
C136S |
probably damaging |
Het |
Ccnt2 |
T |
A |
1: 127,730,902 (GRCm39) |
V593E |
probably damaging |
Het |
Cd53 |
T |
A |
3: 106,669,444 (GRCm39) |
I185F |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,724,366 (GRCm39) |
D3077E |
possibly damaging |
Het |
Ces1h |
C |
A |
8: 94,083,628 (GRCm39) |
|
probably null |
Het |
Chrna3 |
T |
A |
9: 54,923,290 (GRCm39) |
T173S |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,627,717 (GRCm39) |
D418G |
probably benign |
Het |
Col11a2 |
T |
C |
17: 34,270,302 (GRCm39) |
|
probably benign |
Het |
Coq2 |
T |
A |
5: 100,815,889 (GRCm39) |
I97F |
possibly damaging |
Het |
Cr2 |
A |
G |
1: 194,842,667 (GRCm39) |
|
probably benign |
Het |
D2hgdh |
A |
G |
1: 93,754,099 (GRCm39) |
Y24C |
probably damaging |
Het |
D630045J12Rik |
G |
A |
6: 38,168,628 (GRCm39) |
R974C |
probably damaging |
Het |
Dach1 |
A |
G |
14: 98,140,715 (GRCm39) |
V429A |
possibly damaging |
Het |
Ddr1 |
G |
A |
17: 35,995,899 (GRCm39) |
T660I |
probably damaging |
Het |
Dlg1 |
A |
C |
16: 31,615,682 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
T |
C |
7: 130,651,631 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,301,120 (GRCm39) |
D2330E |
probably benign |
Het |
Dnai4 |
T |
C |
4: 102,953,815 (GRCm39) |
N128S |
possibly damaging |
Het |
Doc2a |
A |
G |
7: 126,447,983 (GRCm39) |
T5A |
probably benign |
Het |
Dock2 |
G |
A |
11: 34,595,545 (GRCm39) |
|
probably benign |
Het |
Dok4 |
T |
A |
8: 95,591,866 (GRCm39) |
Y290F |
probably damaging |
Het |
Dop1a |
A |
G |
9: 86,367,550 (GRCm39) |
D11G |
probably damaging |
Het |
E230025N22Rik |
T |
C |
18: 36,821,987 (GRCm39) |
H235R |
probably benign |
Het |
Ear6 |
A |
G |
14: 52,091,909 (GRCm39) |
D152G |
probably damaging |
Het |
Ecscr |
T |
A |
18: 35,846,689 (GRCm39) |
|
probably benign |
Het |
Epha4 |
T |
A |
1: 77,365,178 (GRCm39) |
Q607L |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,948,998 (GRCm39) |
N947S |
probably benign |
Het |
Flg |
A |
G |
3: 93,186,767 (GRCm39) |
E73G |
probably damaging |
Het |
Fndc1 |
C |
T |
17: 8,003,173 (GRCm39) |
|
probably benign |
Het |
Gad1-ps |
T |
C |
10: 99,280,854 (GRCm39) |
|
noncoding transcript |
Het |
Gata6 |
A |
G |
18: 11,064,771 (GRCm39) |
T528A |
probably benign |
Het |
Gjd4 |
T |
C |
18: 9,280,244 (GRCm39) |
E278G |
probably benign |
Het |
Gm20091 |
T |
A |
10: 96,244,864 (GRCm39) |
|
noncoding transcript |
Het |
Gnb3 |
G |
A |
6: 124,812,659 (GRCm39) |
Q266* |
probably null |
Het |
Grm3 |
A |
G |
5: 9,562,446 (GRCm39) |
V468A |
possibly damaging |
Het |
Igf1r |
C |
T |
7: 67,857,574 (GRCm39) |
R1085C |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,227,527 (GRCm39) |
T2049A |
probably damaging |
Het |
Jak3 |
A |
T |
8: 72,138,126 (GRCm39) |
D859V |
probably benign |
Het |
Kcnb2 |
G |
T |
1: 15,783,108 (GRCm39) |
|
probably benign |
Het |
Kcnh3 |
G |
A |
15: 99,138,839 (GRCm39) |
G858D |
probably benign |
Het |
Kif1a |
C |
A |
1: 92,971,360 (GRCm39) |
R1006L |
probably damaging |
Het |
Klhl23 |
C |
T |
2: 69,654,757 (GRCm39) |
A209V |
probably benign |
Het |
Mapk13 |
T |
C |
17: 28,994,229 (GRCm39) |
Y104H |
probably damaging |
Het |
Mbd4 |
A |
G |
6: 115,826,443 (GRCm39) |
S183P |
probably damaging |
Het |
Mga |
T |
C |
2: 119,750,187 (GRCm39) |
|
probably null |
Het |
Mipol1 |
G |
A |
12: 57,461,197 (GRCm39) |
|
probably null |
Het |
Mmp14 |
A |
G |
14: 54,676,166 (GRCm39) |
T299A |
possibly damaging |
Het |
Mmrn1 |
A |
G |
6: 60,953,453 (GRCm39) |
E578G |
probably benign |
Het |
Mov10l1 |
G |
A |
15: 88,879,063 (GRCm39) |
C193Y |
possibly damaging |
Het |
Mppe1 |
A |
G |
18: 67,370,548 (GRCm39) |
C50R |
probably damaging |
Het |
Msantd1 |
C |
A |
5: 35,075,069 (GRCm39) |
R44S |
probably damaging |
Het |
Myt1l |
T |
C |
12: 29,892,570 (GRCm39) |
V69A |
possibly damaging |
Het |
Nav1 |
A |
T |
1: 135,392,430 (GRCm39) |
|
probably benign |
Het |
Ncan |
A |
G |
8: 70,561,252 (GRCm39) |
S572P |
possibly damaging |
Het |
Nck2 |
T |
C |
1: 43,608,304 (GRCm39) |
|
probably benign |
Het |
Nemf |
A |
T |
12: 69,403,088 (GRCm39) |
D31E |
probably damaging |
Het |
Nlrp12 |
T |
C |
7: 3,297,892 (GRCm39) |
D93G |
possibly damaging |
Het |
Nsmaf |
A |
T |
4: 6,419,930 (GRCm39) |
|
probably null |
Het |
Nup98 |
T |
C |
7: 101,835,892 (GRCm39) |
T184A |
probably damaging |
Het |
Oog2 |
C |
A |
4: 143,922,654 (GRCm39) |
Y306* |
probably null |
Het |
Or13a18 |
A |
T |
7: 140,190,297 (GRCm39) |
N73Y |
probably damaging |
Het |
Or6ae1 |
A |
T |
7: 139,742,144 (GRCm39) |
S240T |
probably damaging |
Het |
Or6b2b |
A |
T |
1: 92,419,055 (GRCm39) |
C141S |
possibly damaging |
Het |
Osmr |
A |
G |
15: 6,871,419 (GRCm39) |
|
probably benign |
Het |
P2rx6 |
A |
G |
16: 17,386,162 (GRCm39) |
N275S |
probably benign |
Het |
Pbxip1 |
G |
T |
3: 89,354,926 (GRCm39) |
G482W |
possibly damaging |
Het |
Pcsk4 |
T |
G |
10: 80,161,168 (GRCm39) |
I249L |
probably damaging |
Het |
Pou4f2 |
C |
T |
8: 79,162,291 (GRCm39) |
G104E |
probably damaging |
Het |
Pramel28 |
T |
A |
4: 143,691,653 (GRCm39) |
T357S |
possibly damaging |
Het |
Prkdc |
G |
T |
16: 15,651,652 (GRCm39) |
R3763L |
probably damaging |
Het |
Ptpre |
A |
T |
7: 135,265,044 (GRCm39) |
I207F |
probably damaging |
Het |
Rapgef3 |
A |
T |
15: 97,655,698 (GRCm39) |
|
probably benign |
Het |
Rasgrp1 |
T |
G |
2: 117,115,428 (GRCm39) |
K685T |
probably benign |
Het |
Rnf148 |
C |
T |
6: 23,654,237 (GRCm39) |
R253Q |
probably damaging |
Het |
Rock1 |
T |
C |
18: 10,132,227 (GRCm39) |
I241V |
possibly damaging |
Het |
Rp1l1 |
T |
G |
14: 64,259,541 (GRCm39) |
V61G |
probably damaging |
Het |
Scin |
A |
C |
12: 40,131,770 (GRCm39) |
S255A |
probably damaging |
Het |
Scn8a |
A |
T |
15: 100,933,505 (GRCm39) |
K1570* |
probably null |
Het |
Sec14l4 |
A |
C |
11: 3,990,018 (GRCm39) |
M106L |
probably benign |
Het |
Sec63 |
G |
A |
10: 42,674,795 (GRCm39) |
R226H |
probably benign |
Het |
Septin2 |
T |
A |
1: 93,429,345 (GRCm39) |
N271K |
probably damaging |
Het |
Serac1 |
G |
T |
17: 6,099,101 (GRCm39) |
|
probably benign |
Het |
Shc2 |
T |
A |
10: 79,465,974 (GRCm39) |
|
probably benign |
Het |
Sipa1l1 |
T |
A |
12: 82,471,873 (GRCm39) |
D1284E |
probably benign |
Het |
Slc11a2 |
A |
G |
15: 100,306,097 (GRCm39) |
L105P |
probably damaging |
Het |
Slc1a3 |
T |
A |
15: 8,680,406 (GRCm39) |
T151S |
probably benign |
Het |
Smarca2 |
G |
T |
19: 26,668,762 (GRCm39) |
K920N |
probably damaging |
Het |
Sugp2 |
G |
A |
8: 70,711,598 (GRCm39) |
E964K |
probably damaging |
Het |
Tas2r122 |
A |
C |
6: 132,688,778 (GRCm39) |
N38K |
probably benign |
Het |
Tecpr1 |
G |
A |
5: 144,143,092 (GRCm39) |
R730C |
probably damaging |
Het |
Tent2 |
A |
T |
13: 93,312,123 (GRCm39) |
|
probably benign |
Het |
Themis3 |
G |
T |
17: 66,900,265 (GRCm39) |
N34K |
possibly damaging |
Het |
Traf3ip1 |
A |
G |
1: 91,427,341 (GRCm39) |
T104A |
unknown |
Het |
Trappc11 |
A |
G |
8: 47,956,447 (GRCm39) |
V843A |
probably benign |
Het |
Trmt61a |
T |
A |
12: 111,645,361 (GRCm39) |
L99Q |
probably damaging |
Het |
Trp53tg5 |
T |
A |
2: 164,313,401 (GRCm39) |
K91N |
probably damaging |
Het |
Ufsp2 |
T |
C |
8: 46,445,187 (GRCm39) |
S339P |
probably damaging |
Het |
Usp20 |
T |
A |
2: 30,894,462 (GRCm39) |
V126E |
probably damaging |
Het |
Vmn1r75 |
T |
A |
7: 11,614,797 (GRCm39) |
N176K |
probably damaging |
Het |
Vmn2r24 |
A |
G |
6: 123,793,012 (GRCm39) |
S780G |
probably benign |
Het |
Vmn2r89 |
A |
G |
14: 51,695,048 (GRCm39) |
|
probably null |
Het |
Vps13d |
A |
T |
4: 144,771,665 (GRCm39) |
S4038T |
probably damaging |
Het |
Vwa7 |
A |
G |
17: 35,241,627 (GRCm39) |
T421A |
probably damaging |
Het |
Wdr95 |
C |
A |
5: 149,504,271 (GRCm39) |
L332I |
probably damaging |
Het |
Wrn |
T |
A |
8: 33,826,119 (GRCm39) |
K181I |
probably damaging |
Het |
Zc3h6 |
T |
A |
2: 128,859,143 (GRCm39) |
I1058N |
possibly damaging |
Het |
Zfp423 |
T |
A |
8: 88,508,713 (GRCm39) |
I544F |
probably damaging |
Het |
Zfp446 |
T |
A |
7: 12,713,516 (GRCm39) |
S161T |
possibly damaging |
Het |
Zmym6 |
T |
A |
4: 127,017,162 (GRCm39) |
M889K |
probably benign |
Het |
|
Other mutations in Eml6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01071:Eml6
|
APN |
11 |
29,800,816 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01407:Eml6
|
APN |
11 |
29,705,021 (GRCm39) |
nonsense |
probably null |
|
IGL01434:Eml6
|
APN |
11 |
29,769,090 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01578:Eml6
|
APN |
11 |
29,800,870 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01780:Eml6
|
APN |
11 |
29,755,175 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01821:Eml6
|
APN |
11 |
29,771,699 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01837:Eml6
|
APN |
11 |
29,727,055 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01904:Eml6
|
APN |
11 |
29,788,613 (GRCm39) |
nonsense |
probably null |
|
IGL01972:Eml6
|
APN |
11 |
29,788,451 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02134:Eml6
|
APN |
11 |
29,709,066 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02192:Eml6
|
APN |
11 |
29,755,743 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02377:Eml6
|
APN |
11 |
29,727,282 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02584:Eml6
|
APN |
11 |
29,699,387 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02587:Eml6
|
APN |
11 |
29,734,236 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02810:Eml6
|
APN |
11 |
29,799,016 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02873:Eml6
|
APN |
11 |
29,830,700 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02880:Eml6
|
APN |
11 |
29,699,959 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03289:Eml6
|
APN |
11 |
29,745,328 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL03301:Eml6
|
APN |
11 |
29,714,083 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03386:Eml6
|
APN |
11 |
29,699,934 (GRCm39) |
missense |
probably benign |
|
IGL03407:Eml6
|
APN |
11 |
29,856,330 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Eml6
|
UTSW |
11 |
29,752,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R0125:Eml6
|
UTSW |
11 |
29,832,088 (GRCm39) |
missense |
probably benign |
0.19 |
R0240:Eml6
|
UTSW |
11 |
29,742,367 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0240:Eml6
|
UTSW |
11 |
29,742,367 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0271:Eml6
|
UTSW |
11 |
29,798,949 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0304:Eml6
|
UTSW |
11 |
29,727,441 (GRCm39) |
missense |
probably benign |
0.00 |
R0415:Eml6
|
UTSW |
11 |
29,699,392 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0449:Eml6
|
UTSW |
11 |
29,843,213 (GRCm39) |
missense |
probably benign |
0.01 |
R0671:Eml6
|
UTSW |
11 |
29,755,065 (GRCm39) |
missense |
probably benign |
0.00 |
R0766:Eml6
|
UTSW |
11 |
29,781,219 (GRCm39) |
splice site |
probably benign |
|
R0800:Eml6
|
UTSW |
11 |
29,699,877 (GRCm39) |
missense |
probably benign |
0.08 |
R0841:Eml6
|
UTSW |
11 |
29,727,430 (GRCm39) |
missense |
probably benign |
0.41 |
R0879:Eml6
|
UTSW |
11 |
29,800,816 (GRCm39) |
critical splice donor site |
probably null |
|
R1061:Eml6
|
UTSW |
11 |
29,727,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R1145:Eml6
|
UTSW |
11 |
29,727,430 (GRCm39) |
missense |
probably benign |
0.41 |
R1145:Eml6
|
UTSW |
11 |
29,727,430 (GRCm39) |
missense |
probably benign |
0.41 |
R1172:Eml6
|
UTSW |
11 |
29,699,824 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1173:Eml6
|
UTSW |
11 |
29,699,824 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1174:Eml6
|
UTSW |
11 |
29,699,824 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1199:Eml6
|
UTSW |
11 |
29,705,044 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1311:Eml6
|
UTSW |
11 |
29,781,088 (GRCm39) |
splice site |
probably benign |
|
R1312:Eml6
|
UTSW |
11 |
29,781,219 (GRCm39) |
splice site |
probably benign |
|
R1355:Eml6
|
UTSW |
11 |
29,783,085 (GRCm39) |
missense |
probably benign |
0.03 |
R1370:Eml6
|
UTSW |
11 |
29,783,085 (GRCm39) |
missense |
probably benign |
0.03 |
R1457:Eml6
|
UTSW |
11 |
29,974,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1486:Eml6
|
UTSW |
11 |
29,755,114 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1511:Eml6
|
UTSW |
11 |
29,768,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R1532:Eml6
|
UTSW |
11 |
29,742,256 (GRCm39) |
splice site |
probably null |
|
R1642:Eml6
|
UTSW |
11 |
29,727,001 (GRCm39) |
critical splice donor site |
probably null |
|
R1682:Eml6
|
UTSW |
11 |
29,709,065 (GRCm39) |
missense |
probably benign |
0.13 |
R1687:Eml6
|
UTSW |
11 |
29,783,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R1699:Eml6
|
UTSW |
11 |
29,696,282 (GRCm39) |
nonsense |
probably null |
|
R1796:Eml6
|
UTSW |
11 |
29,831,975 (GRCm39) |
missense |
probably benign |
0.19 |
R1797:Eml6
|
UTSW |
11 |
29,832,041 (GRCm39) |
missense |
probably benign |
0.09 |
R1837:Eml6
|
UTSW |
11 |
29,699,802 (GRCm39) |
splice site |
probably null |
|
R1874:Eml6
|
UTSW |
11 |
29,781,136 (GRCm39) |
missense |
probably damaging |
0.99 |
R1967:Eml6
|
UTSW |
11 |
29,974,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R1969:Eml6
|
UTSW |
11 |
29,783,075 (GRCm39) |
missense |
probably benign |
|
R2007:Eml6
|
UTSW |
11 |
29,798,814 (GRCm39) |
critical splice donor site |
probably null |
|
R2012:Eml6
|
UTSW |
11 |
29,781,128 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2198:Eml6
|
UTSW |
11 |
29,800,935 (GRCm39) |
missense |
probably benign |
0.01 |
R2217:Eml6
|
UTSW |
11 |
29,768,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:Eml6
|
UTSW |
11 |
29,768,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R2403:Eml6
|
UTSW |
11 |
29,752,434 (GRCm39) |
missense |
probably benign |
0.05 |
R2520:Eml6
|
UTSW |
11 |
29,741,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Eml6
|
UTSW |
11 |
29,783,049 (GRCm39) |
splice site |
probably benign |
|
R2938:Eml6
|
UTSW |
11 |
29,783,049 (GRCm39) |
splice site |
probably benign |
|
R3085:Eml6
|
UTSW |
11 |
29,759,332 (GRCm39) |
missense |
probably damaging |
0.96 |
R3236:Eml6
|
UTSW |
11 |
29,781,097 (GRCm39) |
critical splice donor site |
probably null |
|
R3738:Eml6
|
UTSW |
11 |
29,753,137 (GRCm39) |
missense |
probably benign |
0.20 |
R3739:Eml6
|
UTSW |
11 |
29,753,137 (GRCm39) |
missense |
probably benign |
0.20 |
R3752:Eml6
|
UTSW |
11 |
29,759,360 (GRCm39) |
missense |
probably benign |
0.06 |
R3854:Eml6
|
UTSW |
11 |
29,699,905 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3941:Eml6
|
UTSW |
11 |
29,753,167 (GRCm39) |
missense |
probably damaging |
0.98 |
R4034:Eml6
|
UTSW |
11 |
29,753,137 (GRCm39) |
missense |
probably benign |
0.20 |
R4049:Eml6
|
UTSW |
11 |
29,788,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R4108:Eml6
|
UTSW |
11 |
29,755,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R4657:Eml6
|
UTSW |
11 |
29,755,108 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4662:Eml6
|
UTSW |
11 |
29,727,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R4665:Eml6
|
UTSW |
11 |
29,769,007 (GRCm39) |
nonsense |
probably null |
|
R4721:Eml6
|
UTSW |
11 |
29,788,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4729:Eml6
|
UTSW |
11 |
29,783,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R4766:Eml6
|
UTSW |
11 |
29,755,757 (GRCm39) |
missense |
probably benign |
0.22 |
R4810:Eml6
|
UTSW |
11 |
29,705,011 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4831:Eml6
|
UTSW |
11 |
29,727,052 (GRCm39) |
nonsense |
probably null |
|
R5035:Eml6
|
UTSW |
11 |
29,804,187 (GRCm39) |
missense |
probably benign |
0.00 |
R5064:Eml6
|
UTSW |
11 |
29,699,300 (GRCm39) |
missense |
probably benign |
0.12 |
R5103:Eml6
|
UTSW |
11 |
29,800,905 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5121:Eml6
|
UTSW |
11 |
29,694,606 (GRCm39) |
missense |
probably benign |
0.03 |
R5161:Eml6
|
UTSW |
11 |
29,974,467 (GRCm39) |
missense |
probably damaging |
0.99 |
R5211:Eml6
|
UTSW |
11 |
29,804,145 (GRCm39) |
missense |
probably benign |
0.02 |
R5268:Eml6
|
UTSW |
11 |
29,753,108 (GRCm39) |
missense |
probably benign |
0.15 |
R5390:Eml6
|
UTSW |
11 |
29,710,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R5529:Eml6
|
UTSW |
11 |
29,714,126 (GRCm39) |
missense |
probably benign |
0.04 |
R6239:Eml6
|
UTSW |
11 |
29,699,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Eml6
|
UTSW |
11 |
29,769,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R6395:Eml6
|
UTSW |
11 |
29,759,321 (GRCm39) |
missense |
probably benign |
0.00 |
R6476:Eml6
|
UTSW |
11 |
29,741,971 (GRCm39) |
critical splice donor site |
probably null |
|
R6483:Eml6
|
UTSW |
11 |
29,699,875 (GRCm39) |
missense |
probably benign |
0.00 |
R6701:Eml6
|
UTSW |
11 |
29,735,748 (GRCm39) |
missense |
probably damaging |
0.98 |
R6753:Eml6
|
UTSW |
11 |
29,704,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R6809:Eml6
|
UTSW |
11 |
29,753,161 (GRCm39) |
missense |
probably benign |
0.23 |
R6847:Eml6
|
UTSW |
11 |
29,768,447 (GRCm39) |
missense |
probably benign |
0.00 |
R6855:Eml6
|
UTSW |
11 |
29,701,381 (GRCm39) |
splice site |
probably null |
|
R7168:Eml6
|
UTSW |
11 |
29,788,529 (GRCm39) |
missense |
probably benign |
0.01 |
R7175:Eml6
|
UTSW |
11 |
29,734,231 (GRCm39) |
missense |
probably benign |
0.00 |
R7305:Eml6
|
UTSW |
11 |
29,727,258 (GRCm39) |
missense |
probably benign |
0.01 |
R7615:Eml6
|
UTSW |
11 |
29,752,501 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7692:Eml6
|
UTSW |
11 |
29,703,085 (GRCm39) |
missense |
probably damaging |
0.98 |
R7980:Eml6
|
UTSW |
11 |
29,783,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R8026:Eml6
|
UTSW |
11 |
29,699,973 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8046:Eml6
|
UTSW |
11 |
29,708,981 (GRCm39) |
missense |
probably damaging |
0.99 |
R8049:Eml6
|
UTSW |
11 |
29,843,201 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8114:Eml6
|
UTSW |
11 |
29,704,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R8425:Eml6
|
UTSW |
11 |
29,705,008 (GRCm39) |
missense |
probably benign |
0.00 |
R8799:Eml6
|
UTSW |
11 |
29,708,981 (GRCm39) |
missense |
probably benign |
0.11 |
R8945:Eml6
|
UTSW |
11 |
29,703,110 (GRCm39) |
missense |
probably damaging |
0.98 |
R8977:Eml6
|
UTSW |
11 |
29,734,182 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8986:Eml6
|
UTSW |
11 |
29,755,181 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9088:Eml6
|
UTSW |
11 |
29,768,424 (GRCm39) |
missense |
probably damaging |
0.96 |
R9150:Eml6
|
UTSW |
11 |
29,755,791 (GRCm39) |
missense |
probably benign |
0.15 |
R9209:Eml6
|
UTSW |
11 |
29,781,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R9288:Eml6
|
UTSW |
11 |
29,788,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9467:Eml6
|
UTSW |
11 |
29,769,076 (GRCm39) |
missense |
probably damaging |
0.99 |
R9481:Eml6
|
UTSW |
11 |
29,788,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9534:Eml6
|
UTSW |
11 |
29,734,155 (GRCm39) |
missense |
possibly damaging |
0.45 |
RF037:Eml6
|
UTSW |
11 |
29,702,549 (GRCm39) |
critical splice acceptor site |
probably benign |
|
RF039:Eml6
|
UTSW |
11 |
29,702,551 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACATGCTGCAATACATCCTTGCC -3'
(R):5'- AATCCCGCTCTGTGATAGCCCTTG -3'
Sequencing Primer
(F):5'- CATGGGACTCACTTACATCTAAGGG -3'
(R):5'- GTGATAGCCCTTGGATCTCACTAC -3'
|
Posted On |
2013-06-12 |