Incidental Mutation 'R2504:Eml5'
| ID |
252208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
040412-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R2504 (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 98810364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 864
(D864G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065716]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065716
AA Change: D825G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: D825G
| 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 |
possibly damaging
Transcript: ENSMUST00000223282
AA Change: D864G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,909,681 (GRCm39) |
D28G |
probably benign |
Het |
| Abcg1 |
T |
A |
17: 31,311,369 (GRCm39) |
S125T |
probably damaging |
Het |
| Actbl2 |
T |
C |
13: 111,392,717 (GRCm39) |
S351P |
possibly damaging |
Het |
| Ankrd34b |
A |
G |
13: 92,575,569 (GRCm39) |
|
probably null |
Het |
| BC051665 |
C |
T |
13: 60,930,468 (GRCm39) |
V295I |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,983 (GRCm39) |
N265S |
probably damaging |
Het |
| Ccdc14 |
C |
T |
16: 34,542,220 (GRCm39) |
R573* |
probably null |
Het |
| Cd55b |
A |
T |
1: 130,337,612 (GRCm39) |
Y247N |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,320,907 (GRCm39) |
V635E |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,377,551 (GRCm39) |
|
probably benign |
Het |
| Clec4b1 |
A |
G |
6: 123,042,904 (GRCm39) |
Y41C |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 10,172,126 (GRCm39) |
D19E |
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,060,375 (GRCm39) |
N53S |
probably damaging |
Het |
| Cplane1 |
G |
A |
15: 8,248,700 (GRCm39) |
E1750K |
probably damaging |
Het |
| Csad |
A |
T |
15: 102,097,102 (GRCm39) |
M1K |
probably null |
Het |
| Cyb5rl |
A |
G |
4: 106,938,142 (GRCm39) |
I200V |
probably benign |
Het |
| Cyp26a1 |
A |
G |
19: 37,686,790 (GRCm39) |
T81A |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,237 (GRCm39) |
H433L |
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,951,208 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
A |
G |
1: 139,097,908 (GRCm39) |
|
probably benign |
Het |
| Dmap1 |
G |
T |
4: 117,532,495 (GRCm39) |
T357K |
probably damaging |
Het |
| Dzip1 |
G |
T |
14: 119,118,456 (GRCm39) |
T759K |
probably benign |
Het |
| Elmo2 |
A |
G |
2: 165,140,607 (GRCm39) |
V300A |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,816,511 (GRCm39) |
V2670A |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,423,988 (GRCm39) |
I534F |
probably damaging |
Het |
| Epha4 |
A |
C |
1: 77,359,628 (GRCm39) |
Y742D |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,106,272 (GRCm39) |
|
probably null |
Het |
| Ero1a |
A |
T |
14: 45,536,545 (GRCm39) |
|
probably null |
Het |
| Fam229a |
A |
G |
4: 129,385,279 (GRCm39) |
D70G |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,226,431 (GRCm39) |
R781Q |
probably damaging |
Het |
| Fbxo16 |
A |
T |
14: 65,508,163 (GRCm39) |
|
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,111 (GRCm39) |
S154R |
probably benign |
Het |
| Fer |
T |
A |
17: 64,298,575 (GRCm39) |
|
probably null |
Het |
| Filip1l |
A |
T |
16: 57,391,410 (GRCm39) |
D428V |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,025 (GRCm39) |
I538V |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,809,954 (GRCm39) |
I2091T |
possibly damaging |
Het |
| Glyat |
A |
C |
19: 12,628,762 (GRCm39) |
T186P |
possibly damaging |
Het |
| Gm10604 |
A |
G |
4: 11,980,083 (GRCm39) |
S74P |
unknown |
Het |
| Gm4787 |
T |
G |
12: 81,425,911 (GRCm39) |
K82N |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,358,683 (GRCm39) |
I50T |
unknown |
Het |
| Hectd4 |
T |
C |
5: 121,402,030 (GRCm39) |
S373P |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,562,618 (GRCm39) |
C2313* |
probably null |
Het |
| Hrob |
T |
C |
11: 102,146,122 (GRCm39) |
Y133H |
possibly damaging |
Het |
| Igfn1 |
A |
T |
1: 135,897,054 (GRCm39) |
S1171T |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,241,642 (GRCm39) |
D267G |
probably benign |
Het |
| Itln1 |
A |
G |
1: 171,356,727 (GRCm39) |
C251R |
probably damaging |
Het |
| Jcad |
C |
T |
18: 4,674,026 (GRCm39) |
T596M |
probably damaging |
Het |
| Kcnj16 |
C |
T |
11: 110,916,409 (GRCm39) |
T357M |
probably benign |
Het |
| Kif13a |
G |
A |
13: 46,967,676 (GRCm39) |
T346M |
probably damaging |
Het |
| Klhl24 |
G |
A |
16: 19,938,917 (GRCm39) |
A491T |
probably benign |
Het |
| Kntc1 |
C |
T |
5: 123,916,410 (GRCm39) |
Q748* |
probably null |
Het |
| Krt25 |
T |
A |
11: 99,208,122 (GRCm39) |
K369* |
probably null |
Het |
| Krt75 |
C |
T |
15: 101,476,466 (GRCm39) |
R433Q |
probably benign |
Het |
| Krt76 |
A |
G |
15: 101,793,293 (GRCm39) |
F582L |
unknown |
Het |
| Lysmd1 |
G |
A |
3: 95,045,708 (GRCm39) |
V182I |
probably benign |
Het |
| Mab21l2 |
T |
A |
3: 86,454,862 (GRCm39) |
E46V |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,563,934 (GRCm39) |
K355N |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,276,398 (GRCm39) |
D630G |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,875,147 (GRCm39) |
I1215N |
probably damaging |
Het |
| Nckap1 |
G |
A |
2: 80,360,562 (GRCm39) |
T523I |
probably benign |
Het |
| Nexmif |
T |
A |
X: 103,127,999 (GRCm39) |
D1306V |
probably damaging |
Het |
| Nfkb1 |
A |
C |
3: 135,295,090 (GRCm39) |
I918R |
possibly damaging |
Het |
| Nt5el |
A |
G |
13: 105,246,250 (GRCm39) |
I270M |
probably benign |
Het |
| Nup50 |
A |
T |
15: 84,817,859 (GRCm39) |
T93S |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,961,717 (GRCm39) |
Y434H |
probably benign |
Het |
| Or13a28 |
T |
C |
7: 140,218,397 (GRCm39) |
V261A |
probably benign |
Het |
| Osbpl1a |
C |
A |
18: 13,038,088 (GRCm39) |
V288L |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,463,846 (GRCm39) |
E562G |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,099,126 (GRCm39) |
Y548* |
probably null |
Het |
| Phf3 |
A |
T |
1: 30,849,870 (GRCm39) |
L1181Q |
probably damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,348,824 (GRCm39) |
I240T |
probably damaging |
Het |
| Pole |
G |
A |
5: 110,438,368 (GRCm39) |
|
probably null |
Het |
| Polq |
T |
A |
16: 36,832,304 (GRCm39) |
S15T |
unknown |
Het |
| Prrt2 |
T |
C |
7: 126,619,396 (GRCm39) |
E23G |
possibly damaging |
Het |
| Prss37 |
A |
T |
6: 40,494,760 (GRCm39) |
|
probably null |
Het |
| Prune2 |
T |
C |
19: 16,977,400 (GRCm39) |
L45P |
probably damaging |
Het |
| Psd |
A |
T |
19: 46,313,352 (GRCm39) |
M6K |
possibly damaging |
Het |
| Psmd1 |
A |
G |
1: 86,017,719 (GRCm39) |
E510G |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,053,405 (GRCm39) |
I1194N |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rgmb |
C |
A |
17: 16,027,909 (GRCm39) |
R270L |
probably benign |
Het |
| Rpgrip1l |
A |
G |
8: 92,007,344 (GRCm39) |
|
probably null |
Het |
| Rps2 |
G |
A |
17: 24,939,353 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
G |
T |
5: 21,107,364 (GRCm39) |
A550E |
probably damaging |
Het |
| S1pr4 |
C |
T |
10: 81,335,138 (GRCm39) |
R112H |
probably benign |
Het |
| Scfd2 |
T |
C |
5: 74,691,838 (GRCm39) |
N148S |
probably damaging |
Het |
| Scin |
C |
T |
12: 40,131,705 (GRCm39) |
M276I |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,147,255 (GRCm39) |
I708T |
possibly damaging |
Het |
| Skint11 |
T |
A |
4: 114,086,009 (GRCm39) |
F41I |
possibly damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,694,303 (GRCm39) |
F44Y |
possibly damaging |
Het |
| Slc6a18 |
A |
G |
13: 73,823,925 (GRCm39) |
Y72H |
probably benign |
Het |
| Slc7a11 |
A |
T |
3: 50,332,195 (GRCm39) |
|
probably null |
Het |
| Slc7a14 |
G |
T |
3: 31,291,650 (GRCm39) |
N209K |
possibly damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,257 (GRCm39) |
C59R |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,884,997 (GRCm39) |
|
probably null |
Het |
| Stag1 |
G |
T |
9: 100,748,263 (GRCm39) |
S475I |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,029 (GRCm39) |
Y1183H |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,135,628 (GRCm39) |
|
probably null |
Het |
| Tm9sf2 |
A |
G |
14: 122,396,096 (GRCm39) |
T653A |
probably benign |
Het |
| Tmeff1 |
T |
C |
4: 48,662,059 (GRCm39) |
S366P |
possibly damaging |
Het |
| Tnnt2 |
G |
T |
1: 135,779,803 (GRCm39) |
W300L |
probably damaging |
Het |
| Traj32 |
A |
G |
14: 54,423,560 (GRCm39) |
|
probably benign |
Het |
| Trp53bp2 |
A |
T |
1: 182,269,204 (GRCm39) |
M223L |
probably benign |
Het |
| Tsga10 |
G |
A |
1: 37,854,758 (GRCm39) |
T246M |
probably damaging |
Het |
| Txn2 |
A |
T |
15: 77,810,870 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,768,542 (GRCm39) |
F450I |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,703,677 (GRCm39) |
|
probably null |
Het |
| Vars2 |
C |
T |
17: 35,975,685 (GRCm39) |
R244Q |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,546,803 (GRCm39) |
F251L |
probably damaging |
Het |
| Zfp804a |
G |
A |
2: 82,087,863 (GRCm39) |
R564Q |
probably benign |
Het |
| Zfp983 |
T |
C |
17: 21,877,883 (GRCm39) |
C29R |
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 |
|
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 |
|
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'- CAGTGCTCCCTCCATGATAG -3'
(R):5'- AGGCTGTCAATGTGAGCCTG -3'
Sequencing Primer
(F):5'- ATGCATACTGAACACGGG -3'
(R):5'- CTGTCAATGTGAGCCTGTATTGATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation