Incidental Mutation 'R1538:Eml5'
| ID |
169730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
039577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R1538 (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 98760535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1738
(N1738S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065716]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065716
AA Change: N1691S
PolyPhen 2
Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: N1691S
| 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: ENSMUST00000220848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222593
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223282
AA Change: N1738S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222717
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,771,162 (GRCm39) |
R117L |
probably benign |
Het |
| 4930447C04Rik |
G |
A |
12: 72,928,120 (GRCm39) |
A537V |
possibly damaging |
Het |
| 4930579F01Rik |
A |
C |
3: 137,889,517 (GRCm39) |
D33E |
probably damaging |
Het |
| Acnat1 |
T |
C |
4: 49,447,835 (GRCm39) |
K249E |
possibly damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,942,295 (GRCm39) |
I526T |
possibly damaging |
Het |
| Aplp1 |
C |
A |
7: 30,135,452 (GRCm39) |
E535D |
probably benign |
Het |
| Armc8 |
T |
A |
9: 99,387,343 (GRCm39) |
H425L |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asprv1 |
C |
T |
6: 86,605,618 (GRCm39) |
Q155* |
probably null |
Het |
| Atl1 |
A |
G |
12: 69,972,962 (GRCm39) |
Q94R |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,595,440 (GRCm39) |
L970P |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,973,772 (GRCm39) |
M2514T |
probably benign |
Het |
| Cacfd1 |
T |
A |
2: 26,908,951 (GRCm39) |
D97E |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,437,504 (GRCm39) |
L344P |
probably damaging |
Het |
| Cacna2d2 |
C |
A |
9: 107,394,615 (GRCm39) |
R596S |
probably damaging |
Het |
| Catip |
C |
A |
1: 74,403,811 (GRCm39) |
S176* |
probably null |
Het |
| Cdcp1 |
G |
A |
9: 123,002,653 (GRCm39) |
S806L |
probably damaging |
Het |
| Cdk6 |
A |
T |
5: 3,570,675 (GRCm39) |
I289L |
probably benign |
Het |
| Cers3 |
C |
T |
7: 66,431,571 (GRCm39) |
T182I |
probably damaging |
Het |
| Cfap46 |
T |
A |
7: 139,262,924 (GRCm39) |
N43I |
probably null |
Het |
| Clec4n |
A |
T |
6: 123,206,992 (GRCm39) |
R5S |
possibly damaging |
Het |
| Cnr2 |
G |
T |
4: 135,644,012 (GRCm39) |
S30I |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,907,170 (GRCm39) |
G870E |
probably damaging |
Het |
| Cpne6 |
T |
C |
14: 55,752,677 (GRCm39) |
V289A |
possibly damaging |
Het |
| Crym |
G |
A |
7: 119,796,938 (GRCm39) |
L141F |
probably benign |
Het |
| Cxxc5 |
T |
C |
18: 35,991,622 (GRCm39) |
S8P |
unknown |
Het |
| Dido1 |
A |
C |
2: 180,326,763 (GRCm39) |
S453R |
possibly damaging |
Het |
| Dnah2 |
A |
C |
11: 69,368,028 (GRCm39) |
S1770R |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,535,148 (GRCm39) |
V2704A |
possibly damaging |
Het |
| Eri3 |
A |
G |
4: 117,439,836 (GRCm39) |
T138A |
possibly damaging |
Het |
| Ext2 |
C |
T |
2: 93,537,632 (GRCm39) |
E585K |
probably damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,324,056 (GRCm39) |
S38C |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,854,917 (GRCm39) |
I1848F |
probably damaging |
Het |
| Fmo6 |
G |
A |
1: 162,753,675 (GRCm39) |
P156S |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,764 (GRCm39) |
I686F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,339,339 (GRCm39) |
L544P |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,031,177 (GRCm39) |
Y251C |
probably benign |
Het |
| Gemin4 |
G |
T |
11: 76,101,987 (GRCm39) |
Q925K |
probably benign |
Het |
| Gm18856 |
T |
A |
13: 14,139,274 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
A |
T |
4: 155,636,171 (GRCm39) |
T164S |
probably benign |
Het |
| Gpx6 |
A |
G |
13: 21,497,822 (GRCm39) |
D31G |
possibly damaging |
Het |
| Gzmd |
A |
C |
14: 56,367,802 (GRCm39) |
I157S |
probably benign |
Het |
| Il31ra |
T |
A |
13: 112,684,000 (GRCm39) |
N43I |
possibly damaging |
Het |
| Irak3 |
T |
C |
10: 120,001,035 (GRCm39) |
T297A |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,685,927 (GRCm39) |
D649G |
probably damaging |
Het |
| Kif3b |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
2: 153,159,382 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,275,815 (GRCm39) |
F111S |
probably damaging |
Het |
| Lratd2 |
A |
G |
15: 60,695,498 (GRCm39) |
C83R |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,697,585 (GRCm39) |
S319P |
possibly damaging |
Het |
| Mettl15 |
T |
C |
2: 108,962,010 (GRCm39) |
|
probably null |
Het |
| Mtarc1 |
T |
C |
1: 184,534,199 (GRCm39) |
E223G |
probably damaging |
Het |
| Ncoa1 |
T |
C |
12: 4,320,748 (GRCm39) |
Q1107R |
possibly damaging |
Het |
| Ncoa7 |
T |
G |
10: 30,570,207 (GRCm39) |
M251L |
probably damaging |
Het |
| Nos2 |
A |
T |
11: 78,847,396 (GRCm39) |
M1023L |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,626,399 (GRCm39) |
K25E |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,682,860 (GRCm39) |
Y223F |
probably damaging |
Het |
| Or52s1b |
A |
G |
7: 102,822,193 (GRCm39) |
I217T |
probably damaging |
Het |
| Or5k14 |
T |
A |
16: 58,693,261 (GRCm39) |
N84I |
probably damaging |
Het |
| Or5p58 |
T |
A |
7: 107,694,493 (GRCm39) |
I95F |
probably damaging |
Het |
| Or6b6 |
A |
T |
7: 106,571,190 (GRCm39) |
Y120* |
probably null |
Het |
| Or6c206 |
T |
C |
10: 129,097,082 (GRCm39) |
I84T |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,742,306 (GRCm39) |
E225K |
possibly damaging |
Het |
| Pdzd2 |
A |
C |
15: 12,373,047 (GRCm39) |
S2363A |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,218,142 (GRCm39) |
L1199P |
probably damaging |
Het |
| Prpsap1 |
A |
T |
11: 116,370,534 (GRCm39) |
M141K |
probably benign |
Het |
| Prss29 |
A |
T |
17: 25,539,257 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pter |
T |
A |
2: 12,983,417 (GRCm39) |
S141T |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,501,662 (GRCm39) |
D1181E |
probably damaging |
Het |
| Rab3ip |
T |
A |
10: 116,775,159 (GRCm39) |
Q66H |
probably damaging |
Het |
| Rgs12 |
A |
T |
5: 35,178,511 (GRCm39) |
T779S |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,048,922 (GRCm39) |
F786S |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,636,540 (GRCm39) |
D640V |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,899 (GRCm39) |
T1738A |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,447,508 (GRCm39) |
S3185P |
probably damaging |
Het |
| Scnn1a |
T |
A |
6: 125,315,856 (GRCm39) |
D321E |
possibly damaging |
Het |
| Sec31b |
G |
C |
19: 44,507,025 (GRCm39) |
L1014V |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,468,690 (GRCm39) |
Y111C |
probably damaging |
Het |
| Shld2 |
C |
G |
14: 33,990,833 (GRCm39) |
Q24H |
probably damaging |
Het |
| Siglecg |
A |
G |
7: 43,067,313 (GRCm39) |
K627E |
possibly damaging |
Het |
| Sigmar1 |
T |
C |
4: 41,740,845 (GRCm39) |
I95V |
probably benign |
Het |
| Sirpb1b |
T |
A |
3: 15,613,819 (GRCm39) |
T88S |
possibly damaging |
Het |
| Spire2 |
T |
G |
8: 124,084,895 (GRCm39) |
L245R |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,527,192 (GRCm39) |
P1150T |
probably benign |
Het |
| Stat6 |
C |
A |
10: 127,489,125 (GRCm39) |
T380N |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,746,166 (GRCm39) |
G162E |
probably benign |
Het |
| Surf4 |
T |
C |
2: 26,823,710 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
C |
7: 130,227,149 (GRCm39) |
M1278T |
probably benign |
Het |
| Tacr2 |
T |
A |
10: 62,097,106 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
A |
T |
6: 42,655,923 (GRCm39) |
V351E |
probably damaging |
Het |
| Tmcc2 |
A |
G |
1: 132,308,718 (GRCm39) |
S59P |
probably damaging |
Het |
| Tmem17 |
G |
A |
11: 22,467,266 (GRCm39) |
S60N |
possibly damaging |
Het |
| Tmem63b |
C |
G |
17: 45,989,904 (GRCm39) |
R88P |
possibly damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,499,753 (GRCm39) |
I307N |
probably benign |
Het |
| Treml2 |
A |
T |
17: 48,609,786 (GRCm39) |
T73S |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,774,012 (GRCm39) |
H2876R |
possibly damaging |
Het |
| Tyw3 |
A |
G |
3: 154,302,506 (GRCm39) |
I53T |
probably damaging |
Het |
| Ugp2 |
A |
G |
11: 21,283,791 (GRCm39) |
I92T |
possibly damaging |
Het |
| Vmn2r66 |
A |
T |
7: 84,644,166 (GRCm39) |
M748K |
possibly damaging |
Het |
| Vmn2r82 |
T |
C |
10: 79,192,578 (GRCm39) |
S52P |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,886,828 (GRCm39) |
S320T |
probably benign |
Het |
| Zbtb16 |
A |
T |
9: 48,743,583 (GRCm39) |
M243K |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,150,329 (GRCm39) |
T432I |
possibly 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 |
|
R1689:Eml5
|
UTSW |
12 |
98,797,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Eml5
|
UTSW |
12 |
98,765,098 (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'- TGTGTCAAAGGCATGAAGCCATAGG -3'
(R):5'- CCTTTCTGCTGCTGAAGATGGGAC -3'
Sequencing Primer
(F):5'- gccataggtatggtttccCC -3'
(R):5'- AGTGAGACTCTGGGACATTGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation