Incidental Mutation 'R1957:Eml5'
| ID |
217955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
039971-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R1957 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
98786805-98901484 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98859961 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 644
(H644Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065716]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065716
AA Change: H644Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: H644Q
| 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 |
probably damaging
Transcript: ENSMUST00000223282
AA Change: H683Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
97% (117/121) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 114 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,338,633 (GRCm38) |
|
probably benign |
Het |
| Abce1 |
A |
G |
8: 79,685,949 (GRCm38) |
I583T |
probably benign |
Het |
| Adcy1 |
A |
T |
11: 7,161,945 (GRCm38) |
T937S |
probably benign |
Het |
| Adgra2 |
A |
G |
8: 27,111,168 (GRCm38) |
I279V |
possibly damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,510,779 (GRCm38) |
N533I |
possibly damaging |
Het |
| Adipor1 |
T |
C |
1: 134,423,033 (GRCm38) |
S7P |
probably benign |
Het |
| Amelx |
A |
T |
X: 169,182,157 (GRCm38) |
|
probably null |
Het |
| Anks1b |
A |
T |
10: 90,049,930 (GRCm38) |
T163S |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,317,335 (GRCm38) |
E2394G |
probably damaging |
Het |
| Arhgef39 |
C |
T |
4: 43,499,309 (GRCm38) |
G56E |
probably damaging |
Het |
| Arnt |
C |
T |
3: 95,448,393 (GRCm38) |
S16L |
possibly damaging |
Het |
| Arsj |
A |
G |
3: 126,439,021 (GRCm38) |
N472S |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,669,418 (GRCm38) |
Y197C |
probably damaging |
Het |
| B3gat1 |
A |
T |
9: 26,755,952 (GRCm38) |
D160V |
possibly damaging |
Het |
| Bmp7 |
T |
C |
2: 172,939,921 (GRCm38) |
E50G |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,392,978 (GRCm38) |
E869G |
probably damaging |
Het |
| Brd4 |
G |
A |
17: 32,221,366 (GRCm38) |
P332L |
possibly damaging |
Het |
| Btbd11 |
T |
C |
10: 85,633,699 (GRCm38) |
L828P |
probably damaging |
Het |
| C130074G19Rik |
T |
C |
1: 184,882,898 (GRCm38) |
T32A |
probably benign |
Het |
| C1rl |
A |
T |
6: 124,509,062 (GRCm38) |
Y464F |
probably damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,263,909 (GRCm38) |
M193K |
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 128,980,135 (GRCm38) |
S338P |
probably damaging |
Het |
| Cenpu |
T |
C |
8: 46,572,837 (GRCm38) |
|
probably benign |
Het |
| Cep170 |
A |
C |
1: 176,769,447 (GRCm38) |
V448G |
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,277,794 (GRCm38) |
A879S |
probably benign |
Het |
| Crtac1 |
C |
T |
19: 42,287,944 (GRCm38) |
S515N |
possibly damaging |
Het |
| Cstad |
G |
A |
2: 30,608,281 (GRCm38) |
V43M |
unknown |
Het |
| Daam1 |
T |
C |
12: 71,982,755 (GRCm38) |
|
probably null |
Het |
| Dnmt1 |
C |
T |
9: 20,927,146 (GRCm38) |
R207H |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,522,105 (GRCm38) |
N153S |
probably damaging |
Het |
| Dzip3 |
C |
A |
16: 48,927,593 (GRCm38) |
L1151F |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,647,820 (GRCm38) |
L52P |
probably damaging |
Het |
| Eno1 |
T |
A |
4: 150,246,775 (GRCm38) |
|
probably null |
Het |
| Epha3 |
T |
A |
16: 63,772,952 (GRCm38) |
T258S |
probably benign |
Het |
| Ern1 |
T |
C |
11: 106,426,897 (GRCm38) |
T134A |
probably damaging |
Het |
| Fam151b |
G |
T |
13: 92,477,902 (GRCm38) |
T26K |
probably damaging |
Het |
| Fam151b |
T |
A |
13: 92,477,903 (GRCm38) |
T26S |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,040,682 (GRCm38) |
V3955A |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,367,654 (GRCm38) |
N930S |
possibly damaging |
Het |
| Fgr |
A |
G |
4: 132,998,362 (GRCm38) |
M361V |
probably benign |
Het |
| Fmo4 |
G |
A |
1: 162,803,690 (GRCm38) |
T236I |
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,883,509 (GRCm38) |
T67I |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,643,940 (GRCm38) |
T216A |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,932,753 (GRCm38) |
A406T |
probably benign |
Het |
| Gm42669 |
A |
T |
5: 107,508,872 (GRCm38) |
E355D |
possibly damaging |
Het |
| Gm438 |
G |
A |
4: 144,777,819 (GRCm38) |
T254I |
possibly damaging |
Het |
| Gm5174 |
A |
T |
10: 86,656,753 (GRCm38) |
|
noncoding transcript |
Het |
| Gm5431 |
A |
T |
11: 48,888,397 (GRCm38) |
L844* |
probably null |
Het |
| Gm6489 |
T |
C |
1: 31,287,371 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9833 |
G |
T |
3: 10,089,286 (GRCm38) |
V372F |
probably benign |
Het |
| Gna11 |
A |
G |
10: 81,530,844 (GRCm38) |
V344A |
probably damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,490,455 (GRCm38) |
E170G |
probably damaging |
Het |
| H2afz |
A |
C |
3: 137,865,514 (GRCm38) |
|
probably benign |
Het |
| Heatr1 |
A |
G |
13: 12,396,538 (GRCm38) |
N87D |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,295,671 (GRCm38) |
K687E |
possibly damaging |
Het |
| Ica1 |
T |
C |
6: 8,749,736 (GRCm38) |
D71G |
possibly damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,686,570 (GRCm38) |
L10P |
probably damaging |
Het |
| Il1r1 |
T |
A |
1: 40,313,140 (GRCm38) |
L490* |
probably null |
Het |
| Ip6k3 |
A |
T |
17: 27,151,168 (GRCm38) |
L92Q |
probably benign |
Het |
| Itgbl1 |
T |
A |
14: 123,966,678 (GRCm38) |
F394I |
probably damaging |
Het |
| Kat6b |
T |
C |
14: 21,628,879 (GRCm38) |
Y437H |
probably damaging |
Het |
| Kcnh5 |
G |
C |
12: 74,897,584 (GRCm38) |
Q964E |
probably benign |
Het |
| Krt27 |
A |
T |
11: 99,346,483 (GRCm38) |
|
probably null |
Het |
| Mki67 |
A |
T |
7: 135,698,399 (GRCm38) |
D1635E |
probably benign |
Het |
| Mmp23 |
G |
T |
4: 155,652,052 (GRCm38) |
H177Q |
possibly damaging |
Het |
| Mylk2 |
C |
A |
2: 152,917,607 (GRCm38) |
Q406K |
possibly damaging |
Het |
| Myo1g |
A |
G |
11: 6,512,159 (GRCm38) |
|
probably null |
Het |
| Myrf |
T |
C |
19: 10,219,796 (GRCm38) |
T261A |
probably benign |
Het |
| Nmt2 |
C |
T |
2: 3,325,382 (GRCm38) |
P486L |
possibly damaging |
Het |
| Oard1 |
T |
A |
17: 48,415,276 (GRCm38) |
L100* |
probably null |
Het |
| Oca2 |
T |
C |
7: 56,321,498 (GRCm38) |
I391T |
possibly damaging |
Het |
| Olfr181 |
T |
A |
16: 58,926,167 (GRCm38) |
M135L |
probably benign |
Het |
| Olfr488 |
A |
C |
7: 108,255,196 (GRCm38) |
L314* |
probably null |
Het |
| Olfr620 |
T |
A |
7: 103,611,411 (GRCm38) |
*314L |
probably null |
Het |
| Olfr780 |
A |
T |
10: 129,321,871 (GRCm38) |
I83F |
possibly damaging |
Het |
| Olfr826 |
C |
A |
10: 130,179,978 (GRCm38) |
A301S |
possibly damaging |
Het |
| Olfr887 |
T |
A |
9: 38,085,123 (GRCm38) |
C96S |
probably damaging |
Het |
| Pabpc4 |
T |
A |
4: 123,286,865 (GRCm38) |
S127T |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,265,707 (GRCm38) |
D237G |
probably damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,708,022 (GRCm38) |
Y29C |
probably damaging |
Het |
| Phf3 |
C |
A |
1: 30,831,520 (GRCm38) |
R95L |
probably damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,030,682 (GRCm38) |
V1539D |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,331,291 (GRCm38) |
D1271E |
probably damaging |
Het |
| Ppp3r2 |
A |
G |
4: 49,681,726 (GRCm38) |
F75L |
probably damaging |
Het |
| Pth2r |
C |
A |
1: 65,372,355 (GRCm38) |
D350E |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,483,762 (GRCm38) |
F262S |
possibly damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,990,288 (GRCm38) |
S438P |
probably benign |
Het |
| Rexo1 |
G |
A |
10: 80,543,366 (GRCm38) |
R1038C |
probably damaging |
Het |
| Rnf10 |
A |
G |
5: 115,260,322 (GRCm38) |
|
probably benign |
Het |
| Scyl1 |
C |
A |
19: 5,760,104 (GRCm38) |
A565S |
probably benign |
Het |
| Sept4 |
A |
G |
11: 87,590,367 (GRCm38) |
T378A |
probably benign |
Het |
| Sh3yl1 |
A |
G |
12: 30,942,788 (GRCm38) |
|
probably null |
Het |
| Slc1a7 |
G |
T |
4: 107,968,585 (GRCm38) |
D14Y |
probably benign |
Het |
| Slc32a1 |
T |
C |
2: 158,614,043 (GRCm38) |
V206A |
probably damaging |
Het |
| Smyd5 |
G |
A |
6: 85,438,139 (GRCm38) |
R43Q |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,216,175 (GRCm38) |
A286T |
possibly damaging |
Het |
| Sp110 |
A |
C |
1: 85,577,329 (GRCm38) |
F434C |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,194,954 (GRCm38) |
H794Q |
probably benign |
Het |
| Ssbp2 |
T |
C |
13: 91,664,184 (GRCm38) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,478,273 (GRCm38) |
G3023D |
probably damaging |
Het |
| St6galnac5 |
T |
A |
3: 152,846,483 (GRCm38) |
Q149L |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,861,470 (GRCm38) |
Y1985H |
probably benign |
Het |
| Suz12 |
A |
G |
11: 79,999,100 (GRCm38) |
M146V |
probably benign |
Het |
| Tac2 |
A |
G |
10: 127,728,480 (GRCm38) |
|
probably null |
Het |
| Thbd |
T |
C |
2: 148,406,979 (GRCm38) |
E323G |
probably damaging |
Het |
| Tnfrsf26 |
T |
A |
7: 143,617,923 (GRCm38) |
T98S |
probably damaging |
Het |
| Trim15 |
T |
C |
17: 36,862,323 (GRCm38) |
|
probably benign |
Het |
| Trpt1 |
T |
C |
19: 6,998,193 (GRCm38) |
V105A |
possibly damaging |
Het |
| Vcam1 |
T |
C |
3: 116,125,957 (GRCm38) |
Y226C |
probably damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,808,383 (GRCm38) |
V273A |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,564,707 (GRCm38) |
V17A |
probably benign |
Het |
| Vmn2r84 |
G |
A |
10: 130,390,808 (GRCm38) |
A387V |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,971,684 (GRCm38) |
L2728Q |
probably damaging |
Het |
| Zfp934 |
T |
A |
13: 62,518,294 (GRCm38) |
T178S |
possibly damaging |
Het |
|
| Other mutations in Eml5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Eml5
|
APN |
12 |
98,873,209 (GRCm38) |
splice site |
probably benign |
|
|
IGL00473:Eml5
|
APN |
12 |
98,805,492 (GRCm38) |
splice site |
probably benign |
|
|
IGL01120:Eml5
|
APN |
12 |
98,844,019 (GRCm38) |
missense |
probably benign |
|
|
IGL01308:Eml5
|
APN |
12 |
98,802,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01790:Eml5
|
APN |
12 |
98,798,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01973:Eml5
|
APN |
12 |
98,863,280 (GRCm38) |
missense |
probably benign |
|
|
IGL02182:Eml5
|
APN |
12 |
98,802,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02201:Eml5
|
APN |
12 |
98,794,424 (GRCm38) |
splice site |
probably benign |
|
|
IGL02375:Eml5
|
APN |
12 |
98,844,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02397:Eml5
|
APN |
12 |
98,790,674 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02480:Eml5
|
APN |
12 |
98,876,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02801:Eml5
|
APN |
12 |
98,817,845 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02876:Eml5
|
APN |
12 |
98,858,841 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03104:Eml5
|
APN |
12 |
98,861,245 (GRCm38) |
nonsense |
probably null |
|
|
IGL03158:Eml5
|
APN |
12 |
98,827,514 (GRCm38) |
splice site |
probably benign |
|
|
IGL03286:Eml5
|
APN |
12 |
98,860,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03380:Eml5
|
APN |
12 |
98,874,647 (GRCm38) |
splice site |
probably benign |
|
|
BB010:Eml5
|
UTSW |
12 |
98,844,020 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
BB020:Eml5
|
UTSW |
12 |
98,844,020 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0573:Eml5
|
UTSW |
12 |
98,824,772 (GRCm38) |
splice site |
probably null |
|
|
R0624:Eml5
|
UTSW |
12 |
98,865,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0993:Eml5
|
UTSW |
12 |
98,861,183 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1073:Eml5
|
UTSW |
12 |
98,830,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1183:Eml5
|
UTSW |
12 |
98,792,046 (GRCm38) |
missense |
probably benign |
0.31 |
|
R1352:Eml5
|
UTSW |
12 |
98,831,003 (GRCm38) |
splice site |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,858,823 (GRCm38) |
missense |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,858,823 (GRCm38) |
missense |
probably benign |
|
|
R1503:Eml5
|
UTSW |
12 |
98,831,174 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1538:Eml5
|
UTSW |
12 |
98,794,276 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1689:Eml5
|
UTSW |
12 |
98,830,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1773:Eml5
|
UTSW |
12 |
98,798,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1775:Eml5
|
UTSW |
12 |
98,852,704 (GRCm38) |
splice site |
probably null |
|
|
R1791:Eml5
|
UTSW |
12 |
98,887,056 (GRCm38) |
missense |
probably benign |
0.31 |
|
R1856:Eml5
|
UTSW |
12 |
98,810,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1919:Eml5
|
UTSW |
12 |
98,798,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1962:Eml5
|
UTSW |
12 |
98,876,311 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2033:Eml5
|
UTSW |
12 |
98,791,386 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2035:Eml5
|
UTSW |
12 |
98,794,266 (GRCm38) |
missense |
probably benign |
0.33 |
|
R2073:Eml5
|
UTSW |
12 |
98,802,446 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2143:Eml5
|
UTSW |
12 |
98,810,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2144:Eml5
|
UTSW |
12 |
98,810,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2158:Eml5
|
UTSW |
12 |
98,843,946 (GRCm38) |
splice site |
probably benign |
|
|
R2164:Eml5
|
UTSW |
12 |
98,887,097 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2175:Eml5
|
UTSW |
12 |
98,876,223 (GRCm38) |
nonsense |
probably null |
|
|
R2200:Eml5
|
UTSW |
12 |
98,825,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2234:Eml5
|
UTSW |
12 |
98,841,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2504:Eml5
|
UTSW |
12 |
98,844,105 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2871:Eml5
|
UTSW |
12 |
98,865,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2871:Eml5
|
UTSW |
12 |
98,865,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2958:Eml5
|
UTSW |
12 |
98,876,178 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3013:Eml5
|
UTSW |
12 |
98,880,808 (GRCm38) |
splice site |
probably null |
|
|
R3118:Eml5
|
UTSW |
12 |
98,865,494 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3735:Eml5
|
UTSW |
12 |
98,855,989 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R3856:Eml5
|
UTSW |
12 |
98,816,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3900:Eml5
|
UTSW |
12 |
98,825,523 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3973:Eml5
|
UTSW |
12 |
98,802,465 (GRCm38) |
splice site |
probably benign |
|
|
R3976:Eml5
|
UTSW |
12 |
98,802,465 (GRCm38) |
splice site |
probably benign |
|
|
R4105:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4107:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4108:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4109:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4258:Eml5
|
UTSW |
12 |
98,865,434 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4381:Eml5
|
UTSW |
12 |
98,815,955 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4590:Eml5
|
UTSW |
12 |
98,837,341 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4737:Eml5
|
UTSW |
12 |
98,798,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4775:Eml5
|
UTSW |
12 |
98,802,307 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4850:Eml5
|
UTSW |
12 |
98,790,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5007:Eml5
|
UTSW |
12 |
98,830,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5092:Eml5
|
UTSW |
12 |
98,792,616 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5123:Eml5
|
UTSW |
12 |
98,874,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5124:Eml5
|
UTSW |
12 |
98,792,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5273:Eml5
|
UTSW |
12 |
98,790,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5369:Eml5
|
UTSW |
12 |
98,858,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5430:Eml5
|
UTSW |
12 |
98,794,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5748:Eml5
|
UTSW |
12 |
98,825,555 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5769:Eml5
|
UTSW |
12 |
98,790,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5832:Eml5
|
UTSW |
12 |
98,876,188 (GRCm38) |
missense |
probably benign |
|
|
R6113:Eml5
|
UTSW |
12 |
98,824,674 (GRCm38) |
nonsense |
probably null |
|
|
R6131:Eml5
|
UTSW |
12 |
98,861,251 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6175:Eml5
|
UTSW |
12 |
98,794,456 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6184:Eml5
|
UTSW |
12 |
98,863,129 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6357:Eml5
|
UTSW |
12 |
98,870,884 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6375:Eml5
|
UTSW |
12 |
98,798,868 (GRCm38) |
|
|
|
|
R6528:Eml5
|
UTSW |
12 |
98,824,637 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6657:Eml5
|
UTSW |
12 |
98,791,405 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6717:Eml5
|
UTSW |
12 |
98,827,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6751:Eml5
|
UTSW |
12 |
98,865,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6833:Eml5
|
UTSW |
12 |
98,887,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6834:Eml5
|
UTSW |
12 |
98,887,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6972:Eml5
|
UTSW |
12 |
98,876,180 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7091:Eml5
|
UTSW |
12 |
98,802,474 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7353:Eml5
|
UTSW |
12 |
98,825,424 (GRCm38) |
missense |
|
|
|
R7644:Eml5
|
UTSW |
12 |
98,855,944 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7694:Eml5
|
UTSW |
12 |
98,792,563 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7842:Eml5
|
UTSW |
12 |
98,794,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7933:Eml5
|
UTSW |
12 |
98,844,020 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8111:Eml5
|
UTSW |
12 |
98,792,514 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8198:Eml5
|
UTSW |
12 |
98,858,886 (GRCm38) |
nonsense |
probably null |
|
|
R8482:Eml5
|
UTSW |
12 |
98,876,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8732:Eml5
|
UTSW |
12 |
98,815,959 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8956:Eml5
|
UTSW |
12 |
98,852,693 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8975:Eml5
|
UTSW |
12 |
98,810,570 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9131:Eml5
|
UTSW |
12 |
98,858,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9258:Eml5
|
UTSW |
12 |
98,844,117 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9261:Eml5
|
UTSW |
12 |
98,856,028 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9276:Eml5
|
UTSW |
12 |
98,798,801 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9301:Eml5
|
UTSW |
12 |
98,882,033 (GRCm38) |
nonsense |
probably null |
|
|
R9368:Eml5
|
UTSW |
12 |
98,796,578 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9392:Eml5
|
UTSW |
12 |
98,900,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9393:Eml5
|
UTSW |
12 |
98,876,174 (GRCm38) |
missense |
probably benign |
0.35 |
|
R9449:Eml5
|
UTSW |
12 |
98,861,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9570:Eml5
|
UTSW |
12 |
98,815,984 (GRCm38) |
missense |
probably benign |
0.15 |
|
T0722:Eml5
|
UTSW |
12 |
98,841,582 (GRCm38) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAAGAATAGAAACTTGTTGCTGC -3'
(R):5'- TTCCTCATGACTCATAGAAAGCTC -3'
Sequencing Primer
(F):5'- CATAGCTGAAATGTGAGGCCTATAC -3'
(R):5'- TGACTCATAGAAAGCTCTCAGAG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation