Incidental Mutation 'R8956:Eml5'
ID |
682041 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml5
|
Ensembl Gene |
ENSMUSG00000051166 |
Gene Name |
echinoderm microtubule associated protein like 5 |
Synonyms |
C130068M19Rik |
MMRRC Submission |
068792-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R8956 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
98753064-98867743 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98818952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 785
(K785E)
|
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: K746E
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000065643 Gene: ENSMUSG00000051166 AA Change: K746E
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: K785E
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (87/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
C |
T |
7: 78,750,713 (GRCm39) |
T1828I |
probably benign |
Het |
Acsf2 |
A |
G |
11: 94,461,211 (GRCm39) |
S322P |
probably benign |
Het |
Acss2 |
T |
A |
2: 155,391,438 (GRCm39) |
I170N |
probably damaging |
Het |
Adam22 |
G |
A |
5: 8,142,343 (GRCm39) |
T814I |
probably damaging |
Het |
Agrn |
G |
T |
4: 156,250,995 (GRCm39) |
D1914E |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,187,127 (GRCm39) |
S1514P |
probably benign |
Het |
Akap9 |
T |
C |
5: 3,998,805 (GRCm39) |
L58P |
possibly damaging |
Het |
Apof |
A |
G |
10: 128,105,712 (GRCm39) |
I289V |
probably benign |
Het |
Arhgap35 |
G |
A |
7: 16,348,404 (GRCm39) |
|
probably benign |
Het |
Atad3a |
A |
C |
4: 155,838,054 (GRCm39) |
F239L |
probably damaging |
Het |
Atf6 |
T |
C |
1: 170,621,576 (GRCm39) |
T482A |
probably damaging |
Het |
Atg9b |
T |
C |
5: 24,591,850 (GRCm39) |
|
probably benign |
Het |
Atp8b4 |
T |
A |
2: 126,167,327 (GRCm39) |
|
probably null |
Het |
B4galt5 |
T |
C |
2: 167,143,260 (GRCm39) |
Y388C |
probably damaging |
Het |
Bahd1 |
T |
C |
2: 118,749,689 (GRCm39) |
L495P |
probably damaging |
Het |
Bcl6 |
T |
C |
16: 23,793,716 (GRCm39) |
E77G |
probably damaging |
Het |
Bst1 |
C |
A |
5: 43,982,716 (GRCm39) |
S187* |
probably null |
Het |
Car4 |
A |
G |
11: 84,855,377 (GRCm39) |
N170S |
probably null |
Het |
Cdk14 |
A |
T |
5: 5,277,182 (GRCm39) |
V131E |
probably damaging |
Het |
Cdk4 |
T |
A |
10: 126,900,546 (GRCm39) |
|
probably benign |
Het |
Cebpe |
T |
C |
14: 54,949,121 (GRCm39) |
R99G |
probably damaging |
Het |
Col9a1 |
G |
A |
1: 24,276,300 (GRCm39) |
G736D |
probably damaging |
Het |
Copa |
T |
A |
1: 171,937,480 (GRCm39) |
V477D |
possibly damaging |
Het |
Coq9 |
G |
A |
8: 95,576,886 (GRCm39) |
G166D |
probably benign |
Het |
Cttnbp2 |
A |
T |
6: 18,434,165 (GRCm39) |
N564K |
possibly damaging |
Het |
Dgkq |
T |
C |
5: 108,798,095 (GRCm39) |
N721S |
probably benign |
Het |
Dnhd1 |
A |
T |
7: 105,341,852 (GRCm39) |
Y1217F |
probably damaging |
Het |
Eef1akmt4 |
G |
T |
16: 20,437,398 (GRCm39) |
E247* |
probably null |
Het |
Elovl7 |
A |
T |
13: 108,393,320 (GRCm39) |
I18F |
probably benign |
Het |
Faap100 |
C |
A |
11: 120,268,185 (GRCm39) |
C196F |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,173,729 (GRCm39) |
T2328M |
probably damaging |
Het |
Gcnt2 |
T |
A |
13: 41,041,204 (GRCm39) |
I121N |
probably benign |
Het |
Gm12253 |
A |
G |
11: 58,327,605 (GRCm39) |
K152E |
probably benign |
Het |
Gm16440 |
T |
A |
14: 17,574,527 (GRCm39) |
R167* |
probably null |
Het |
Gm43302 |
T |
A |
5: 105,425,602 (GRCm39) |
I276F |
possibly damaging |
Het |
Gys2 |
A |
G |
6: 142,374,267 (GRCm39) |
S593P |
probably damaging |
Het |
H2-M10.4 |
T |
A |
17: 36,772,245 (GRCm39) |
N168Y |
probably benign |
Het |
Hpca |
C |
A |
4: 129,012,287 (GRCm39) |
R83L |
probably damaging |
Het |
Igkv8-28 |
A |
G |
6: 70,121,109 (GRCm39) |
F13L |
probably benign |
Het |
Il17ra |
A |
T |
6: 120,458,465 (GRCm39) |
I539F |
probably damaging |
Het |
Kdm4a |
A |
G |
4: 118,019,013 (GRCm39) |
V401A |
possibly damaging |
Het |
Krt86 |
A |
T |
15: 101,375,157 (GRCm39) |
T351S |
probably benign |
Het |
Lig4 |
A |
G |
8: 10,021,378 (GRCm39) |
C801R |
probably benign |
Het |
Lrrn4 |
G |
A |
2: 132,714,011 (GRCm39) |
P312S |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,368,641 (GRCm39) |
H2040L |
probably benign |
Het |
Madcam1 |
A |
G |
10: 79,502,466 (GRCm39) |
K317E |
possibly damaging |
Het |
Maip1 |
T |
C |
1: 57,450,961 (GRCm39) |
I201T |
probably damaging |
Het |
Map4k4 |
C |
A |
1: 40,039,840 (GRCm39) |
D513E |
probably benign |
Het |
Mideas |
T |
A |
12: 84,209,102 (GRCm39) |
I667L |
probably benign |
Het |
Mpped1 |
G |
A |
15: 83,740,469 (GRCm39) |
G137R |
probably damaging |
Het |
Mrgprd |
T |
G |
7: 144,875,923 (GRCm39) |
F265V |
probably benign |
Het |
Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
Mylk |
A |
G |
16: 34,791,779 (GRCm39) |
T1484A |
probably benign |
Het |
Nbas |
C |
T |
12: 13,482,923 (GRCm39) |
S1400L |
possibly damaging |
Het |
Nedd4 |
T |
A |
9: 72,633,708 (GRCm39) |
S405T |
probably benign |
Het |
Neil2 |
A |
G |
14: 63,429,227 (GRCm39) |
V22A |
probably damaging |
Het |
Nrip1 |
G |
C |
16: 76,089,193 (GRCm39) |
A788G |
probably benign |
Het |
Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
Or10ab4 |
A |
G |
7: 107,655,160 (GRCm39) |
T324A |
probably benign |
Het |
Or10d4c |
C |
T |
9: 39,558,496 (GRCm39) |
T158I |
probably damaging |
Het |
Or2b7 |
T |
C |
13: 21,740,169 (GRCm39) |
I8V |
probably benign |
Het |
Or2bd2 |
G |
A |
7: 6,442,020 (GRCm39) |
|
probably benign |
Het |
Or2r2 |
T |
A |
6: 42,463,830 (GRCm39) |
Q99L |
probably damaging |
Het |
Or6c215 |
C |
T |
10: 129,638,222 (GRCm39) |
M57I |
possibly damaging |
Het |
Orc2 |
T |
C |
1: 58,505,221 (GRCm39) |
N478S |
probably damaging |
Het |
Oxct1 |
A |
G |
15: 4,064,806 (GRCm39) |
E48G |
possibly damaging |
Het |
Pcca |
A |
G |
14: 122,975,324 (GRCm39) |
I28V |
probably benign |
Het |
Pcdha8 |
T |
C |
18: 37,126,241 (GRCm39) |
V241A |
probably benign |
Het |
Pgap6 |
T |
A |
17: 26,339,374 (GRCm39) |
S563T |
possibly damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Pkd2 |
T |
A |
5: 104,631,090 (GRCm39) |
W505R |
probably damaging |
Het |
Plxnc1 |
C |
T |
10: 94,746,448 (GRCm39) |
V430I |
probably benign |
Het |
Prkd3 |
A |
G |
17: 79,278,883 (GRCm39) |
M401T |
probably damaging |
Het |
Rgmb |
A |
G |
17: 16,027,748 (GRCm39) |
C324R |
probably benign |
Het |
Rsph6a |
A |
T |
7: 18,799,364 (GRCm39) |
|
probably benign |
Het |
Sclt1 |
A |
T |
3: 41,636,209 (GRCm39) |
M264K |
probably benign |
Het |
Serhl |
T |
A |
15: 82,985,899 (GRCm39) |
V30D |
possibly damaging |
Het |
Sfrp1 |
T |
C |
8: 23,902,159 (GRCm39) |
V120A |
probably damaging |
Het |
Slc22a8 |
C |
T |
19: 8,587,030 (GRCm39) |
Q408* |
probably null |
Het |
Slc35b2 |
A |
G |
17: 45,877,673 (GRCm39) |
T218A |
probably damaging |
Het |
Slco4c1 |
A |
T |
1: 96,765,242 (GRCm39) |
F403I |
probably damaging |
Het |
Sorbs1 |
T |
A |
19: 40,351,660 (GRCm39) |
H250L |
probably damaging |
Het |
Sorcs3 |
T |
A |
19: 48,737,810 (GRCm39) |
C742* |
probably null |
Het |
Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
Tor1aip1 |
T |
A |
1: 155,909,582 (GRCm39) |
|
probably benign |
Het |
Trim9 |
T |
C |
12: 70,393,665 (GRCm39) |
Q93R |
probably damaging |
Het |
Tsnaxip1 |
A |
G |
8: 106,570,813 (GRCm39) |
Y613C |
probably damaging |
Het |
Ttc6 |
C |
T |
12: 57,775,196 (GRCm39) |
Q1631* |
probably null |
Het |
Ubr5 |
A |
G |
15: 38,015,367 (GRCm39) |
L881P |
probably damaging |
Het |
Upp2 |
C |
T |
2: 58,457,454 (GRCm39) |
|
probably benign |
Het |
Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
Vmn2r116 |
A |
T |
17: 23,605,736 (GRCm39) |
D216V |
probably damaging |
Het |
Vps52 |
A |
G |
17: 34,177,049 (GRCm39) |
Q96R |
probably benign |
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 |
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 |
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'- GCATTTAACCATGCTTCCCAGC -3'
(R):5'- AGAGTATCCACCACCTTTGTCC -3'
Sequencing Primer
(F):5'- GCTTCCCAGCTGGTATATAACAG -3'
(R):5'- GATCCATCTCTTAACTACTCCACCAG -3'
|
Posted On |
2021-08-31 |