Incidental Mutation 'R1773:Eml5'
| ID |
196841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
039804-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R1773 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
98753064-98867743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98765098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1617
(Y1617C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065716]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065716
AA Change: Y1570C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: Y1570C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HELP
|
1 |
49 |
3.3e-21 |
PFAM |
|
WD40
|
50 |
91 |
6.42e-1 |
SMART |
|
WD40
|
94 |
136 |
1.08e-4 |
SMART |
|
WD40
|
139 |
178 |
1.27e-1 |
SMART |
|
WD40
|
184 |
224 |
2.75e1 |
SMART |
|
WD40
|
225 |
263 |
2.65e-4 |
SMART |
|
Blast:WD40
|
265 |
312 |
2e-22 |
BLAST |
|
WD40
|
313 |
353 |
4.69e-5 |
SMART |
|
WD40
|
356 |
394 |
2.2e2 |
SMART |
|
WD40
|
397 |
436 |
8.59e-1 |
SMART |
|
WD40
|
444 |
479 |
6.6e1 |
SMART |
|
WD40
|
505 |
546 |
2.74e2 |
SMART |
|
WD40
|
552 |
592 |
4.8e-2 |
SMART |
|
low complexity region
|
609 |
632 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
656 |
715 |
1.4e-20 |
PFAM |
|
WD40
|
716 |
757 |
1.18e-1 |
SMART |
|
WD40
|
760 |
802 |
2.84e-4 |
SMART |
|
WD40
|
805 |
844 |
1.91e1 |
SMART |
|
WD40
|
853 |
891 |
2.64e2 |
SMART |
|
WD40
|
892 |
929 |
3.45e-3 |
SMART |
|
WD40
|
985 |
1026 |
4.55e-3 |
SMART |
|
WD40
|
1029 |
1068 |
6.39e0 |
SMART |
|
WD40
|
1071 |
1111 |
5.15e-2 |
SMART |
|
WD40
|
1180 |
1221 |
1.9e2 |
SMART |
|
WD40
|
1227 |
1267 |
1.38e0 |
SMART |
|
low complexity region
|
1280 |
1297 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
1335 |
1410 |
2.4e-16 |
PFAM |
|
Blast:WD40
|
1412 |
1462 |
8e-28 |
BLAST |
|
WD40
|
1465 |
1507 |
1.56e-1 |
SMART |
|
WD40
|
1510 |
1549 |
2.06e0 |
SMART |
|
WD40
|
1558 |
1597 |
8.22e1 |
SMART |
|
WD40
|
1599 |
1644 |
4.26e1 |
SMART |
|
WD40
|
1690 |
1730 |
2.19e-5 |
SMART |
|
WD40
|
1774 |
1813 |
5.97e-1 |
SMART |
|
WD40
|
1884 |
1925 |
2.39e0 |
SMART |
|
WD40
|
1931 |
1971 |
2.88e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221902
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222097
AA Change: T118A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222593
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223282
AA Change: Y1617C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222717
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,280,020 (GRCm39) |
K334E |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,327,755 (GRCm39) |
Y1442H |
probably damaging |
Het |
| Acot12 |
A |
G |
13: 91,905,676 (GRCm39) |
T79A |
probably benign |
Het |
| Adipoq |
A |
C |
16: 22,973,988 (GRCm39) |
Q26P |
unknown |
Het |
| Afg2a |
T |
C |
3: 37,493,334 (GRCm39) |
F515L |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,333,199 (GRCm39) |
N1582K |
possibly damaging |
Het |
| Alg9 |
A |
G |
9: 50,690,396 (GRCm39) |
T133A |
probably benign |
Het |
| Anks3 |
T |
C |
16: 4,765,158 (GRCm39) |
T418A |
probably benign |
Het |
| Ano3 |
A |
C |
2: 110,591,800 (GRCm39) |
L37R |
probably damaging |
Het |
| Ano9 |
A |
G |
7: 140,688,291 (GRCm39) |
F178L |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,916,838 (GRCm39) |
|
probably null |
Het |
| Arl16 |
T |
A |
11: 120,356,589 (GRCm39) |
I137F |
possibly damaging |
Het |
| Brpf1 |
T |
A |
6: 113,296,892 (GRCm39) |
S959T |
possibly damaging |
Het |
| Ccdc27 |
C |
T |
4: 154,126,222 (GRCm39) |
R89Q |
unknown |
Het |
| Cd109 |
A |
C |
9: 78,611,006 (GRCm39) |
Q1207H |
probably benign |
Het |
| Cd14 |
A |
T |
18: 36,858,357 (GRCm39) |
V366D |
possibly damaging |
Het |
| Cep290 |
G |
A |
10: 100,346,435 (GRCm39) |
V538I |
probably benign |
Het |
| Cep57 |
G |
A |
9: 13,727,364 (GRCm39) |
A202V |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,624,292 (GRCm39) |
|
probably null |
Het |
| Cmah |
T |
G |
13: 24,601,282 (GRCm39) |
F29L |
probably benign |
Het |
| Cracd |
G |
T |
5: 77,015,052 (GRCm39) |
A42S |
possibly damaging |
Het |
| Crybg1 |
A |
G |
10: 43,868,544 (GRCm39) |
V1378A |
possibly damaging |
Het |
| Cryzl2 |
A |
G |
1: 157,298,292 (GRCm39) |
K227R |
probably benign |
Het |
| D130043K22Rik |
T |
G |
13: 25,066,585 (GRCm39) |
V794G |
possibly damaging |
Het |
| Ddx4 |
T |
A |
13: 112,736,436 (GRCm39) |
T645S |
probably benign |
Het |
| Dhcr7 |
C |
T |
7: 143,401,195 (GRCm39) |
R453C |
possibly damaging |
Het |
| Dhx8 |
T |
C |
11: 101,643,189 (GRCm39) |
Y754H |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,091,842 (GRCm39) |
D860E |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,472,046 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,330,980 (GRCm39) |
D6937G |
probably damaging |
Het |
| Dusp1 |
A |
G |
17: 26,726,081 (GRCm39) |
I204T |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,128,256 (GRCm39) |
Q1859L |
probably damaging |
Het |
| E4f1 |
C |
A |
17: 24,665,558 (GRCm39) |
G328V |
probably damaging |
Het |
| Espn |
G |
T |
4: 152,212,686 (GRCm39) |
P622Q |
probably damaging |
Het |
| Fam184b |
G |
A |
5: 45,741,676 (GRCm39) |
P185L |
possibly damaging |
Het |
| Fn1 |
T |
A |
1: 71,676,542 (GRCm39) |
D563V |
probably damaging |
Het |
| Gad2 |
A |
G |
2: 22,580,219 (GRCm39) |
Y540C |
probably benign |
Het |
| Garin1b |
T |
C |
6: 29,334,152 (GRCm39) |
S335P |
possibly damaging |
Het |
| Gdf11 |
T |
C |
10: 128,727,163 (GRCm39) |
D131G |
probably damaging |
Het |
| Gm19965 |
T |
A |
1: 116,748,989 (GRCm39) |
Y223* |
probably null |
Het |
| H2-M10.6 |
A |
G |
17: 37,123,076 (GRCm39) |
K3R |
probably benign |
Het |
| Hid1 |
A |
G |
11: 115,239,336 (GRCm39) |
Y776H |
probably damaging |
Het |
| Hivep3 |
A |
T |
4: 119,956,034 (GRCm39) |
K1450I |
probably damaging |
Het |
| Icam5 |
T |
C |
9: 20,944,821 (GRCm39) |
L128P |
possibly damaging |
Het |
| Idnk |
T |
C |
13: 58,305,526 (GRCm39) |
V9A |
probably damaging |
Het |
| Il4ra |
A |
T |
7: 125,166,354 (GRCm39) |
T33S |
possibly damaging |
Het |
| Ino80 |
A |
G |
2: 119,248,890 (GRCm39) |
V990A |
probably benign |
Het |
| Krtap4-9 |
T |
C |
11: 99,676,396 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,664,184 (GRCm39) |
I1974V |
possibly damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,306,994 (GRCm39) |
A369V |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,472,431 (GRCm39) |
M252V |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,538,577 (GRCm39) |
I443F |
probably damaging |
Het |
| Nme8 |
T |
G |
13: 19,881,206 (GRCm39) |
M1L |
probably damaging |
Het |
| Npnt |
T |
A |
3: 132,610,454 (GRCm39) |
Q423L |
possibly damaging |
Het |
| Nup133 |
A |
T |
8: 124,657,722 (GRCm39) |
C404* |
probably null |
Het |
| Or2b7 |
T |
C |
13: 21,739,982 (GRCm39) |
D70G |
probably damaging |
Het |
| Or4c124 |
A |
G |
2: 89,156,086 (GRCm39) |
V146A |
probably benign |
Het |
| Or4f14b |
A |
G |
2: 111,775,204 (GRCm39) |
V199A |
possibly damaging |
Het |
| Or56a4 |
T |
C |
7: 104,806,190 (GRCm39) |
E233G |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,219,023 (GRCm39) |
M1V |
probably null |
Het |
| Or6c213 |
A |
G |
10: 129,574,312 (GRCm39) |
L158S |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,937,583 (GRCm39) |
I1764N |
probably benign |
Het |
| Oxa1l |
A |
G |
14: 54,600,909 (GRCm39) |
I127M |
probably benign |
Het |
| P4hb |
C |
A |
11: 120,463,552 (GRCm39) |
V28F |
probably damaging |
Het |
| Pbld2 |
C |
T |
10: 62,890,150 (GRCm39) |
A186V |
probably benign |
Het |
| Pdzph1 |
G |
T |
17: 59,281,808 (GRCm39) |
T158K |
probably damaging |
Het |
| Pgm2 |
T |
A |
5: 64,265,194 (GRCm39) |
|
probably null |
Het |
| Phip |
A |
T |
9: 82,758,242 (GRCm39) |
S1484T |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,231,430 (GRCm39) |
L100P |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,285,529 (GRCm39) |
S923P |
probably benign |
Het |
| Pla2g4e |
A |
G |
2: 120,075,202 (GRCm39) |
S63P |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,906,693 (GRCm39) |
E1176G |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,325,404 (GRCm39) |
Y192* |
probably null |
Het |
| Pten |
T |
A |
19: 32,775,472 (GRCm39) |
C71S |
probably damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,922,987 (GRCm39) |
L202P |
probably benign |
Het |
| Ripor2 |
T |
A |
13: 24,885,237 (GRCm39) |
S491T |
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,801,399 (GRCm39) |
I1008F |
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,413,352 (GRCm39) |
N417S |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,937,496 (GRCm39) |
I1581V |
probably damaging |
Het |
| Slc22a8 |
T |
A |
19: 8,571,593 (GRCm39) |
I108N |
probably damaging |
Het |
| Slc9a8 |
A |
T |
2: 167,313,385 (GRCm39) |
T416S |
possibly damaging |
Het |
| Spata32 |
T |
A |
11: 103,099,644 (GRCm39) |
E287V |
probably damaging |
Het |
| Tgfbrap1 |
C |
T |
1: 43,114,512 (GRCm39) |
G196D |
probably damaging |
Het |
| Tgm5 |
G |
T |
2: 120,908,131 (GRCm39) |
T15K |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,803,865 (GRCm39) |
|
probably null |
Het |
| Tmem177 |
T |
C |
1: 119,838,306 (GRCm39) |
I124M |
possibly damaging |
Het |
| Trim30a |
A |
G |
7: 104,085,108 (GRCm39) |
F34S |
probably damaging |
Het |
| Tsn |
T |
C |
1: 118,232,969 (GRCm39) |
T112A |
probably benign |
Het |
| Tspyl5 |
T |
G |
15: 33,686,922 (GRCm39) |
N341T |
probably benign |
Het |
| Vmn2r108 |
C |
T |
17: 20,689,335 (GRCm39) |
C540Y |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,998 (GRCm39) |
R583W |
probably damaging |
Het |
| Wnt1 |
T |
C |
15: 98,689,638 (GRCm39) |
S142P |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,833,589 (GRCm39) |
I108N |
probably damaging |
Het |
| Zfhx2 |
A |
C |
14: 55,310,348 (GRCm39) |
C733G |
possibly damaging |
Het |
| Zfp219 |
T |
C |
14: 52,244,563 (GRCm39) |
T539A |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,761,598 (GRCm39) |
M177K |
probably damaging |
Het |
|
| Other mutations in Eml5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Eml5
|
APN |
12 |
98,839,468 (GRCm39) |
splice site |
probably benign |
|
|
IGL00473:Eml5
|
APN |
12 |
98,771,751 (GRCm39) |
splice site |
probably benign |
|
|
IGL01120:Eml5
|
APN |
12 |
98,810,278 (GRCm39) |
missense |
probably benign |
|
|
IGL01308:Eml5
|
APN |
12 |
98,768,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01790:Eml5
|
APN |
12 |
98,765,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01973:Eml5
|
APN |
12 |
98,829,539 (GRCm39) |
missense |
probably benign |
|
|
IGL02182:Eml5
|
APN |
12 |
98,768,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02201:Eml5
|
APN |
12 |
98,760,683 (GRCm39) |
splice site |
probably benign |
|
|
IGL02375:Eml5
|
APN |
12 |
98,810,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Eml5
|
APN |
12 |
98,756,933 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02480:Eml5
|
APN |
12 |
98,842,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Eml5
|
APN |
12 |
98,784,104 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02876:Eml5
|
APN |
12 |
98,825,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03104:Eml5
|
APN |
12 |
98,827,504 (GRCm39) |
nonsense |
probably null |
|
|
IGL03158:Eml5
|
APN |
12 |
98,793,773 (GRCm39) |
splice site |
probably benign |
|
|
IGL03286:Eml5
|
APN |
12 |
98,826,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Eml5
|
APN |
12 |
98,840,906 (GRCm39) |
splice site |
probably benign |
|
|
BB010:Eml5
|
UTSW |
12 |
98,810,279 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
BB020:Eml5
|
UTSW |
12 |
98,810,279 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0573:Eml5
|
UTSW |
12 |
98,791,031 (GRCm39) |
splice site |
probably null |
|
|
R0624:Eml5
|
UTSW |
12 |
98,831,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0993:Eml5
|
UTSW |
12 |
98,827,442 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1073:Eml5
|
UTSW |
12 |
98,797,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Eml5
|
UTSW |
12 |
98,758,305 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1352:Eml5
|
UTSW |
12 |
98,797,262 (GRCm39) |
splice site |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,825,082 (GRCm39) |
missense |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,825,082 (GRCm39) |
missense |
probably benign |
|
|
R1503:Eml5
|
UTSW |
12 |
98,797,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1538:Eml5
|
UTSW |
12 |
98,760,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1689:Eml5
|
UTSW |
12 |
98,797,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Eml5
|
UTSW |
12 |
98,818,963 (GRCm39) |
splice site |
probably null |
|
|
R1791:Eml5
|
UTSW |
12 |
98,853,315 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1856:Eml5
|
UTSW |
12 |
98,776,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Eml5
|
UTSW |
12 |
98,765,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Eml5
|
UTSW |
12 |
98,826,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Eml5
|
UTSW |
12 |
98,842,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2033:Eml5
|
UTSW |
12 |
98,757,645 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2035:Eml5
|
UTSW |
12 |
98,760,525 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2073:Eml5
|
UTSW |
12 |
98,768,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2143:Eml5
|
UTSW |
12 |
98,776,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Eml5
|
UTSW |
12 |
98,776,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Eml5
|
UTSW |
12 |
98,810,205 (GRCm39) |
splice site |
probably benign |
|
|
R2164:Eml5
|
UTSW |
12 |
98,853,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2175:Eml5
|
UTSW |
12 |
98,842,482 (GRCm39) |
nonsense |
probably null |
|
|
R2200:Eml5
|
UTSW |
12 |
98,791,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Eml5
|
UTSW |
12 |
98,807,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Eml5
|
UTSW |
12 |
98,810,364 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2871:Eml5
|
UTSW |
12 |
98,831,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Eml5
|
UTSW |
12 |
98,831,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2958:Eml5
|
UTSW |
12 |
98,842,437 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3013:Eml5
|
UTSW |
12 |
98,847,067 (GRCm39) |
splice site |
probably null |
|
|
R3118:Eml5
|
UTSW |
12 |
98,831,753 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3735:Eml5
|
UTSW |
12 |
98,822,248 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3856:Eml5
|
UTSW |
12 |
98,782,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3900:Eml5
|
UTSW |
12 |
98,791,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Eml5
|
UTSW |
12 |
98,768,724 (GRCm39) |
splice site |
probably benign |
|
|
R3976:Eml5
|
UTSW |
12 |
98,768,724 (GRCm39) |
splice site |
probably benign |
|
|
R4105:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4107:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4108:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4109:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4258:Eml5
|
UTSW |
12 |
98,831,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4381:Eml5
|
UTSW |
12 |
98,782,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4590:Eml5
|
UTSW |
12 |
98,803,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4737:Eml5
|
UTSW |
12 |
98,765,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4775:Eml5
|
UTSW |
12 |
98,768,566 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4850:Eml5
|
UTSW |
12 |
98,756,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Eml5
|
UTSW |
12 |
98,797,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Eml5
|
UTSW |
12 |
98,758,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Eml5
|
UTSW |
12 |
98,840,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Eml5
|
UTSW |
12 |
98,758,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Eml5
|
UTSW |
12 |
98,756,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Eml5
|
UTSW |
12 |
98,825,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5430:Eml5
|
UTSW |
12 |
98,760,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5748:Eml5
|
UTSW |
12 |
98,791,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5769:Eml5
|
UTSW |
12 |
98,756,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5832:Eml5
|
UTSW |
12 |
98,842,447 (GRCm39) |
missense |
probably benign |
|
|
R6113:Eml5
|
UTSW |
12 |
98,790,933 (GRCm39) |
nonsense |
probably null |
|
|
R6131:Eml5
|
UTSW |
12 |
98,827,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6175:Eml5
|
UTSW |
12 |
98,760,715 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6184:Eml5
|
UTSW |
12 |
98,829,388 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6357:Eml5
|
UTSW |
12 |
98,837,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6375:Eml5
|
UTSW |
12 |
98,765,127 (GRCm39) |
|
|
|
|
R6528:Eml5
|
UTSW |
12 |
98,790,896 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6657:Eml5
|
UTSW |
12 |
98,757,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6717:Eml5
|
UTSW |
12 |
98,793,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Eml5
|
UTSW |
12 |
98,831,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6833:Eml5
|
UTSW |
12 |
98,853,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Eml5
|
UTSW |
12 |
98,853,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Eml5
|
UTSW |
12 |
98,842,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7091:Eml5
|
UTSW |
12 |
98,768,733 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7353:Eml5
|
UTSW |
12 |
98,791,683 (GRCm39) |
missense |
|
|
|
R7644:Eml5
|
UTSW |
12 |
98,822,203 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7694:Eml5
|
UTSW |
12 |
98,758,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7842:Eml5
|
UTSW |
12 |
98,760,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Eml5
|
UTSW |
12 |
98,810,279 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8111:Eml5
|
UTSW |
12 |
98,758,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8198:Eml5
|
UTSW |
12 |
98,825,145 (GRCm39) |
nonsense |
probably null |
|
|
R8482:Eml5
|
UTSW |
12 |
98,842,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Eml5
|
UTSW |
12 |
98,782,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8956:Eml5
|
UTSW |
12 |
98,818,952 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8975:Eml5
|
UTSW |
12 |
98,776,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9131:Eml5
|
UTSW |
12 |
98,825,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Eml5
|
UTSW |
12 |
98,810,376 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9261:Eml5
|
UTSW |
12 |
98,822,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9276:Eml5
|
UTSW |
12 |
98,765,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9301:Eml5
|
UTSW |
12 |
98,848,292 (GRCm39) |
nonsense |
probably null |
|
|
R9368:Eml5
|
UTSW |
12 |
98,762,837 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9392:Eml5
|
UTSW |
12 |
98,867,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Eml5
|
UTSW |
12 |
98,842,433 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9449:Eml5
|
UTSW |
12 |
98,827,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Eml5
|
UTSW |
12 |
98,782,243 (GRCm39) |
missense |
probably benign |
0.15 |
|
T0722:Eml5
|
UTSW |
12 |
98,807,841 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCCTGCACAGCCTAGAAGGAAG -3'
(R):5'- AGTTACTGGACAGCCAAAGGCAC -3'
Sequencing Primer
(F):5'- GCCTAGAAGGAAGAGCCTCC -3'
(R):5'- CTTTGTCAAAGCAGGTGACC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation