Incidental Mutation 'R2143:Eml5'
ID |
236539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml5
|
Ensembl Gene |
ENSMUSG00000051166 |
Gene Name |
echinoderm microtubule associated protein like 5 |
Synonyms |
C130068M19Rik |
MMRRC Submission |
040146-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R2143 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
98753064-98867743 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 98776864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Cysteine
at position 1417
(F1417C)
|
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: F1370C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065643 Gene: ENSMUSG00000051166 AA Change: F1370C
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: ENSMUST00000222872
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223282
AA Change: F1417C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 111 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
G |
C |
16: 88,556,053 (GRCm39) |
S89T |
probably benign |
Het |
4930522L14Rik |
C |
G |
5: 109,884,616 (GRCm39) |
C414S |
probably damaging |
Het |
4930553M12Rik |
G |
A |
4: 88,786,411 (GRCm39) |
T69I |
unknown |
Het |
4930553M12Rik |
T |
A |
4: 88,786,412 (GRCm39) |
T69S |
unknown |
Het |
Apobr |
G |
A |
7: 126,186,288 (GRCm39) |
E600K |
probably benign |
Het |
Armc8 |
C |
A |
9: 99,387,361 (GRCm39) |
R419L |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,892,726 (GRCm39) |
M1535K |
probably benign |
Het |
Atf7ip2 |
A |
G |
16: 10,058,509 (GRCm39) |
E316G |
probably null |
Het |
Atp2a1 |
G |
A |
7: 126,047,897 (GRCm39) |
R638* |
probably null |
Het |
Atp8b4 |
A |
T |
2: 126,216,430 (GRCm39) |
I672N |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,799,916 (GRCm39) |
V431A |
probably benign |
Het |
Babam1 |
T |
C |
8: 71,851,084 (GRCm39) |
S116P |
probably damaging |
Het |
Ccdc142 |
T |
C |
6: 83,079,203 (GRCm39) |
L180P |
probably damaging |
Het |
Cd52 |
T |
C |
4: 133,821,048 (GRCm39) |
|
probably benign |
Het |
Cdk17 |
T |
C |
10: 93,053,881 (GRCm39) |
L125P |
probably damaging |
Het |
Ckap5 |
A |
G |
2: 91,396,090 (GRCm39) |
D531G |
probably benign |
Het |
Cntn5 |
G |
T |
9: 9,748,420 (GRCm39) |
P487Q |
probably damaging |
Het |
Crispld1 |
C |
T |
1: 17,819,860 (GRCm39) |
T286I |
probably benign |
Het |
Crtap |
T |
C |
9: 114,209,036 (GRCm39) |
Y336C |
probably damaging |
Het |
Ctu2 |
T |
A |
8: 123,205,891 (GRCm39) |
I213K |
probably benign |
Het |
Dmac2l |
A |
G |
12: 69,787,828 (GRCm39) |
Q88R |
probably damaging |
Het |
Dsc3 |
A |
G |
18: 20,113,743 (GRCm39) |
F393S |
possibly damaging |
Het |
Dsg2 |
T |
A |
18: 20,712,218 (GRCm39) |
I118N |
probably damaging |
Het |
Dstyk |
T |
A |
1: 132,391,113 (GRCm39) |
M838K |
probably damaging |
Het |
Elmo3 |
T |
C |
8: 106,035,305 (GRCm39) |
V450A |
probably damaging |
Het |
Enam |
T |
A |
5: 88,640,779 (GRCm39) |
M147K |
probably benign |
Het |
Entpd1 |
T |
C |
19: 40,725,227 (GRCm39) |
Y409H |
probably damaging |
Het |
Extl1 |
C |
A |
4: 134,098,355 (GRCm39) |
E225D |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,186,065 (GRCm39) |
V1761A |
possibly damaging |
Het |
Fsip2 |
A |
T |
2: 82,820,615 (GRCm39) |
L5449F |
possibly damaging |
Het |
Gabra5 |
G |
A |
7: 57,138,763 (GRCm39) |
T95I |
probably damaging |
Het |
Gal3st2c |
C |
T |
1: 93,937,173 (GRCm39) |
Q373* |
probably null |
Het |
Gbp5 |
A |
C |
3: 142,209,593 (GRCm39) |
T180P |
probably damaging |
Het |
Glb1 |
T |
C |
9: 114,266,892 (GRCm39) |
L212P |
probably damaging |
Het |
Gm11596 |
A |
T |
11: 99,683,789 (GRCm39) |
C110* |
probably null |
Het |
Gpat2 |
T |
C |
2: 127,275,682 (GRCm39) |
F487L |
probably damaging |
Het |
Hsph1 |
A |
T |
5: 149,554,951 (GRCm39) |
H110Q |
probably damaging |
Het |
Ikbke |
C |
A |
1: 131,201,211 (GRCm39) |
V176L |
probably damaging |
Het |
Ildr2 |
T |
C |
1: 166,096,895 (GRCm39) |
V38A |
probably damaging |
Het |
Inpp4a |
G |
T |
1: 37,426,827 (GRCm39) |
C326F |
probably damaging |
Het |
Irak2 |
T |
A |
6: 113,649,788 (GRCm39) |
V141D |
probably benign |
Het |
Jade1 |
G |
A |
3: 41,559,143 (GRCm39) |
R408Q |
probably benign |
Het |
Jmjd7 |
C |
A |
2: 119,860,601 (GRCm39) |
|
probably null |
Het |
Kdm7a |
C |
T |
6: 39,145,884 (GRCm39) |
V348I |
possibly damaging |
Het |
Kif20a |
A |
G |
18: 34,758,657 (GRCm39) |
D42G |
possibly damaging |
Het |
Klhl7 |
A |
T |
5: 24,305,861 (GRCm39) |
M37L |
probably benign |
Het |
Krt5 |
A |
G |
15: 101,620,794 (GRCm39) |
I151T |
probably damaging |
Het |
Krtap1-5 |
T |
C |
11: 99,471,644 (GRCm39) |
I50V |
probably benign |
Het |
Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
Lrrc71 |
C |
T |
3: 87,652,828 (GRCm39) |
W148* |
probably null |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Map1a |
T |
A |
2: 121,132,426 (GRCm39) |
S843T |
probably damaging |
Het |
Map1s |
T |
A |
8: 71,363,608 (GRCm39) |
D48E |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,871,983 (GRCm39) |
F2462L |
possibly damaging |
Het |
Mettl21e |
T |
A |
1: 44,249,398 (GRCm39) |
Y86F |
probably benign |
Het |
Myh6 |
A |
T |
14: 55,190,411 (GRCm39) |
D1035E |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,436,367 (GRCm39) |
D719N |
probably damaging |
Het |
Nat8f2 |
T |
G |
6: 85,845,239 (GRCm39) |
H41P |
probably benign |
Het |
Ncam1 |
T |
A |
9: 49,454,319 (GRCm39) |
Q597L |
possibly damaging |
Het |
Nek1 |
T |
A |
8: 61,481,730 (GRCm39) |
I215K |
probably damaging |
Het |
Nol11 |
A |
T |
11: 107,071,881 (GRCm39) |
S237R |
probably benign |
Het |
Npr2 |
T |
C |
4: 43,648,166 (GRCm39) |
F870S |
probably damaging |
Het |
Nsd1 |
T |
C |
13: 55,408,210 (GRCm39) |
Y1285H |
probably damaging |
Het |
Nup93 |
C |
T |
8: 95,023,108 (GRCm39) |
Q229* |
probably null |
Het |
Or4a15 |
C |
T |
2: 89,193,447 (GRCm39) |
E109K |
probably damaging |
Het |
Or7g12 |
G |
A |
9: 18,900,099 (GRCm39) |
A272T |
probably benign |
Het |
Pappa |
T |
A |
4: 65,099,186 (GRCm39) |
Y568* |
probably null |
Het |
Parva |
A |
G |
7: 112,159,274 (GRCm39) |
D180G |
possibly damaging |
Het |
Pask |
C |
T |
1: 93,249,019 (GRCm39) |
A794T |
probably benign |
Het |
Pax1 |
T |
A |
2: 147,207,802 (GRCm39) |
C225S |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,795,835 (GRCm39) |
E51V |
possibly damaging |
Het |
Pde6c |
A |
T |
19: 38,150,777 (GRCm39) |
H562L |
probably damaging |
Het |
Pet100 |
T |
G |
8: 3,672,355 (GRCm39) |
L14R |
probably damaging |
Het |
Pfkfb2 |
T |
C |
1: 130,626,460 (GRCm39) |
T438A |
probably benign |
Het |
Pira2 |
A |
T |
7: 3,847,344 (GRCm39) |
L115Q |
probably damaging |
Het |
Polr2d |
T |
A |
18: 31,929,132 (GRCm39) |
L127Q |
probably damaging |
Het |
Prkd1 |
A |
G |
12: 50,536,694 (GRCm39) |
V130A |
possibly damaging |
Het |
Psd3 |
T |
C |
8: 68,417,003 (GRCm39) |
D45G |
probably damaging |
Het |
Ptpn13 |
A |
G |
5: 103,703,999 (GRCm39) |
T1344A |
probably benign |
Het |
Ptpn6 |
T |
A |
6: 124,701,947 (GRCm39) |
H406L |
probably benign |
Het |
Ric1 |
A |
T |
19: 29,510,652 (GRCm39) |
S78C |
probably damaging |
Het |
Ric1 |
G |
A |
19: 29,510,653 (GRCm39) |
S78N |
probably damaging |
Het |
Scgb1b2 |
G |
T |
7: 30,991,188 (GRCm39) |
|
probably benign |
Het |
Senp7 |
A |
G |
16: 55,990,169 (GRCm39) |
H639R |
probably benign |
Het |
Sgtb |
A |
T |
13: 104,260,767 (GRCm39) |
D72V |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,964,086 (GRCm39) |
M484T |
probably benign |
Het |
Slc5a1 |
A |
G |
5: 33,318,140 (GRCm39) |
K598E |
probably benign |
Het |
Slit3 |
T |
A |
11: 35,503,088 (GRCm39) |
|
probably null |
Het |
Smc1b |
T |
C |
15: 85,008,003 (GRCm39) |
H258R |
probably benign |
Het |
Smu1 |
T |
C |
4: 40,744,073 (GRCm39) |
D318G |
probably damaging |
Het |
Sned1 |
T |
A |
1: 93,199,406 (GRCm39) |
F495L |
probably damaging |
Het |
Svs3a |
C |
A |
2: 164,131,804 (GRCm39) |
S124Y |
probably damaging |
Het |
Syngr4 |
A |
G |
7: 45,536,464 (GRCm39) |
V186A |
probably benign |
Het |
Tars3 |
G |
A |
7: 65,305,539 (GRCm39) |
M254I |
possibly damaging |
Het |
Tdpoz1 |
T |
A |
3: 93,578,143 (GRCm39) |
R214* |
probably null |
Het |
Tm2d3 |
A |
G |
7: 65,344,987 (GRCm39) |
D54G |
probably damaging |
Het |
Trim66 |
A |
T |
7: 109,074,320 (GRCm39) |
I647N |
probably damaging |
Het |
Triml2 |
T |
A |
8: 43,646,548 (GRCm39) |
W346R |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,046,545 (GRCm39) |
V1085D |
probably benign |
Het |
Trpv2 |
T |
C |
11: 62,483,612 (GRCm39) |
V483A |
probably benign |
Het |
Ugp2 |
G |
T |
11: 21,278,949 (GRCm39) |
N412K |
probably benign |
Het |
Upf1 |
T |
C |
8: 70,792,004 (GRCm39) |
D418G |
probably null |
Het |
Vmn2r77 |
C |
A |
7: 86,461,152 (GRCm39) |
P826Q |
probably damaging |
Het |
Vrtn |
T |
C |
12: 84,696,936 (GRCm39) |
M562T |
probably benign |
Het |
Wdr55 |
A |
G |
18: 36,895,419 (GRCm39) |
N132S |
possibly damaging |
Het |
Wipf2 |
A |
T |
11: 98,787,040 (GRCm39) |
R356S |
possibly damaging |
Het |
Zdhhc6 |
T |
C |
19: 55,287,228 (GRCm39) |
K411E |
probably benign |
Het |
Zfp260 |
A |
G |
7: 29,804,765 (GRCm39) |
K222E |
probably damaging |
Het |
Zfp280d |
A |
G |
9: 72,220,011 (GRCm39) |
N237S |
probably damaging |
Het |
Zfp445 |
T |
G |
9: 122,682,547 (GRCm39) |
S465R |
possibly damaging |
Het |
Zfp821 |
A |
G |
8: 110,450,979 (GRCm39) |
D324G |
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 |
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'- AAGGTAATCGGGCTAGGTTCTG -3'
(R):5'- GATTACTGATTCATTGCCGTCC -3'
Sequencing Primer
(F):5'- GCTAGGTTCTGTATGCACACATG -3'
(R):5'- CTTTTGATAGTAGTCACTTGCATGC -3'
|
Posted On |
2014-10-01 |