Incidental Mutation 'R1699:Eml6'
ID |
192539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml6
|
Ensembl Gene |
ENSMUSG00000044072 |
Gene Name |
echinoderm microtubule associated protein like 6 |
Synonyms |
2900083P10Rik, C230094A16Rik |
MMRRC Submission |
039732-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R1699 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
29693048-29976033 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 29696282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 1940
(K1940*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058902]
[ENSMUST00000060992]
[ENSMUST00000078830]
[ENSMUST00000102841]
[ENSMUST00000102842]
[ENSMUST00000102843]
[ENSMUST00000137689]
[ENSMUST00000170731]
|
AlphaFold |
Q5SQM0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000058902
AA Change: K1940*
|
SMART Domains |
Protein: ENSMUSP00000051080 Gene: ENSMUSG00000044072 AA Change: K1940*
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
WD40
|
49 |
91 |
1.79e-1 |
SMART |
WD40
|
94 |
136 |
1.42e-4 |
SMART |
WD40
|
139 |
178 |
5.31e-4 |
SMART |
WD40
|
184 |
224 |
8.84e1 |
SMART |
WD40
|
225 |
263 |
3.75e-4 |
SMART |
WD40
|
313 |
353 |
4.69e-5 |
SMART |
WD40
|
356 |
394 |
2.22e0 |
SMART |
WD40
|
397 |
436 |
1.72e0 |
SMART |
WD40
|
505 |
546 |
1.7e2 |
SMART |
WD40
|
552 |
592 |
4.55e-3 |
SMART |
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
Pfam:HELP
|
653 |
715 |
1.9e-22 |
PFAM |
WD40
|
716 |
757 |
9.24e-1 |
SMART |
WD40
|
760 |
802 |
6.53e-4 |
SMART |
WD40
|
805 |
844 |
2.98e-1 |
SMART |
WD40
|
856 |
891 |
8.52e1 |
SMART |
WD40
|
892 |
929 |
2.09e-2 |
SMART |
WD40
|
986 |
1026 |
1.18e-1 |
SMART |
WD40
|
1032 |
1068 |
3.44e0 |
SMART |
WD40
|
1071 |
1111 |
2.58e-1 |
SMART |
WD40
|
1180 |
1221 |
9.24e-1 |
SMART |
WD40
|
1227 |
1267 |
3.85e-1 |
SMART |
low complexity region
|
1280 |
1291 |
N/A |
INTRINSIC |
Pfam:HELP
|
1329 |
1402 |
5e-15 |
PFAM |
WD40
|
1404 |
1447 |
2.66e0 |
SMART |
WD40
|
1450 |
1492 |
1.85e0 |
SMART |
WD40
|
1495 |
1534 |
2.97e0 |
SMART |
WD40
|
1543 |
1582 |
7.1e1 |
SMART |
WD40
|
1584 |
1629 |
9.51e1 |
SMART |
WD40
|
1675 |
1715 |
3.05e-4 |
SMART |
WD40
|
1718 |
1758 |
8.84e1 |
SMART |
WD40
|
1759 |
1798 |
7.16e-1 |
SMART |
WD40
|
1869 |
1910 |
1.53e1 |
SMART |
WD40
|
1916 |
1956 |
4.62e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060992
|
SMART Domains |
Protein: ENSMUSP00000053754 Gene: ENSMUSG00000020458
Domain | Start | End | E-Value | Type |
Pfam:Reticulon
|
12 |
182 |
7.4e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000078830
|
SMART Domains |
Protein: ENSMUSP00000077875 Gene: ENSMUSG00000020458
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
low complexity region
|
85 |
100 |
N/A |
INTRINSIC |
low complexity region
|
109 |
129 |
N/A |
INTRINSIC |
low complexity region
|
134 |
160 |
N/A |
INTRINSIC |
Pfam:Reticulon
|
169 |
339 |
4.2e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102841
|
SMART Domains |
Protein: ENSMUSP00000099905 Gene: ENSMUSG00000020458
Domain | Start | End | E-Value | Type |
low complexity region
|
102 |
110 |
N/A |
INTRINSIC |
Pfam:Reticulon
|
859 |
1029 |
6.3e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102842
|
SMART Domains |
Protein: ENSMUSP00000099906 Gene: ENSMUSG00000020458
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
low complexity region
|
85 |
100 |
N/A |
INTRINSIC |
low complexity region
|
109 |
129 |
N/A |
INTRINSIC |
low complexity region
|
134 |
160 |
N/A |
INTRINSIC |
Pfam:Reticulon
|
188 |
358 |
4.8e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102843
|
SMART Domains |
Protein: ENSMUSP00000099907 Gene: ENSMUSG00000020458
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
low complexity region
|
85 |
100 |
N/A |
INTRINSIC |
low complexity region
|
109 |
129 |
N/A |
INTRINSIC |
low complexity region
|
134 |
160 |
N/A |
INTRINSIC |
low complexity region
|
218 |
226 |
N/A |
INTRINSIC |
Pfam:Reticulon
|
975 |
1139 |
2.4e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123881
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156217
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137017
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125735
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141719
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142651
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137689
|
SMART Domains |
Protein: ENSMUSP00000116197 Gene: ENSMUSG00000044072
Domain | Start | End | E-Value | Type |
SCOP:d2bbkh_
|
14 |
72 |
9e-8 |
SMART |
Blast:WD40
|
22 |
64 |
1e-24 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170731
|
SMART Domains |
Protein: ENSMUSP00000126413 Gene: ENSMUSG00000020458
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
low complexity region
|
85 |
100 |
N/A |
INTRINSIC |
low complexity region
|
109 |
129 |
N/A |
INTRINSIC |
low complexity region
|
134 |
160 |
N/A |
INTRINSIC |
Pfam:Reticulon
|
169 |
339 |
4.2e-58 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 101 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
G |
2: 25,337,363 (GRCm39) |
E2406G |
possibly damaging |
Het |
Adam6b |
T |
A |
12: 113,454,205 (GRCm39) |
F341I |
probably benign |
Het |
Adam8 |
A |
T |
7: 139,563,224 (GRCm39) |
N767K |
possibly damaging |
Het |
Aig1 |
T |
C |
10: 13,744,366 (GRCm39) |
D46G |
possibly damaging |
Het |
Alms1 |
A |
G |
6: 85,599,862 (GRCm39) |
I2032V |
possibly damaging |
Het |
Ankrd16 |
A |
G |
2: 11,789,204 (GRCm39) |
I264V |
probably benign |
Het |
Areg |
T |
G |
5: 91,291,357 (GRCm39) |
V100G |
probably damaging |
Het |
Bcan |
A |
G |
3: 87,896,543 (GRCm39) |
Y718H |
probably damaging |
Het |
Brsk2 |
T |
A |
7: 141,539,200 (GRCm39) |
I188N |
probably damaging |
Het |
Cdt1 |
T |
C |
8: 123,296,722 (GRCm39) |
Y203H |
probably damaging |
Het |
Cfap119 |
A |
T |
7: 127,186,028 (GRCm39) |
|
probably null |
Het |
Chil3 |
A |
C |
3: 106,067,682 (GRCm39) |
|
probably null |
Het |
Ciao2b |
A |
G |
8: 105,366,718 (GRCm39) |
V132A |
probably damaging |
Het |
Cimip2c |
A |
G |
5: 30,641,210 (GRCm39) |
|
probably null |
Het |
Cth |
A |
G |
3: 157,613,073 (GRCm39) |
L253P |
probably damaging |
Het |
Cyp11b1 |
A |
G |
15: 74,712,666 (GRCm39) |
F132L |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dnah11 |
A |
G |
12: 118,154,603 (GRCm39) |
S226P |
probably damaging |
Het |
Egfr |
A |
T |
11: 16,809,019 (GRCm39) |
Q71L |
probably benign |
Het |
Epn2 |
T |
A |
11: 61,414,014 (GRCm39) |
K391* |
probably null |
Het |
Erich1 |
A |
T |
8: 14,140,259 (GRCm39) |
S2T |
possibly damaging |
Het |
Evi5 |
A |
C |
5: 107,966,786 (GRCm39) |
L245R |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,118,414 (GRCm39) |
Y731C |
probably damaging |
Het |
Exoc3l |
G |
A |
8: 106,021,645 (GRCm39) |
H128Y |
probably benign |
Het |
Extl1 |
G |
A |
4: 134,091,894 (GRCm39) |
Q320* |
probably null |
Het |
Fam91a1 |
T |
A |
15: 58,304,797 (GRCm39) |
S416T |
probably benign |
Het |
Fat3 |
A |
T |
9: 15,849,694 (GRCm39) |
S3903T |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,871,605 (GRCm39) |
F1392L |
probably benign |
Het |
Fstl4 |
T |
C |
11: 53,059,005 (GRCm39) |
I488T |
possibly damaging |
Het |
Gak |
A |
T |
5: 108,752,243 (GRCm39) |
Y338* |
probably null |
Het |
Garin4 |
T |
A |
1: 190,896,018 (GRCm39) |
E208D |
probably benign |
Het |
Glp2r |
T |
C |
11: 67,648,367 (GRCm39) |
T112A |
probably benign |
Het |
Glrb |
G |
A |
3: 80,769,081 (GRCm39) |
T180I |
probably damaging |
Het |
Gm10118 |
C |
T |
10: 63,762,671 (GRCm39) |
|
probably benign |
Het |
Gpr19 |
A |
T |
6: 134,847,192 (GRCm39) |
F72I |
possibly damaging |
Het |
Grin3b |
C |
A |
10: 79,811,716 (GRCm39) |
N740K |
probably damaging |
Het |
Gstk1 |
A |
T |
6: 42,223,535 (GRCm39) |
T42S |
probably benign |
Het |
Hoxd1 |
G |
A |
2: 74,594,626 (GRCm39) |
A294T |
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,275,323 (GRCm39) |
|
probably null |
Het |
Ift74 |
A |
T |
4: 94,573,940 (GRCm39) |
N472I |
probably benign |
Het |
Il1a |
C |
T |
2: 129,144,813 (GRCm39) |
D202N |
probably damaging |
Het |
Islr |
T |
C |
9: 58,064,778 (GRCm39) |
D243G |
probably damaging |
Het |
Kif21a |
C |
T |
15: 90,843,946 (GRCm39) |
E1098K |
probably damaging |
Het |
Krtap16-1 |
T |
C |
11: 99,876,852 (GRCm39) |
E184G |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,075,974 (GRCm39) |
I1889T |
possibly damaging |
Het |
Mcpt4 |
A |
G |
14: 56,297,416 (GRCm39) |
*247Q |
probably null |
Het |
Megf10 |
T |
C |
18: 57,410,802 (GRCm39) |
|
probably null |
Het |
Mettl2 |
T |
A |
11: 105,030,544 (GRCm39) |
H373Q |
probably benign |
Het |
Mocos |
A |
G |
18: 24,816,273 (GRCm39) |
K617E |
probably damaging |
Het |
Ms4a8a |
A |
G |
19: 11,053,761 (GRCm39) |
I115T |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,828,580 (GRCm39) |
Y658C |
probably damaging |
Het |
Nin |
G |
A |
12: 70,077,712 (GRCm39) |
A1031V |
probably benign |
Het |
Nin |
C |
A |
12: 70,092,337 (GRCm39) |
K657N |
possibly damaging |
Het |
Noc4l |
G |
A |
5: 110,797,713 (GRCm39) |
R344* |
probably null |
Het |
Notch2 |
T |
C |
3: 98,052,443 (GRCm39) |
S1980P |
probably damaging |
Het |
Npat |
C |
T |
9: 53,473,960 (GRCm39) |
S584L |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,581,121 (GRCm39) |
T102A |
probably damaging |
Het |
Olfml2b |
A |
G |
1: 170,472,642 (GRCm39) |
N51S |
possibly damaging |
Het |
Or2n1e |
A |
G |
17: 38,585,932 (GRCm39) |
K90R |
probably benign |
Het |
Or2y16 |
T |
A |
11: 49,335,116 (GRCm39) |
I146N |
possibly damaging |
Het |
Or5al1 |
T |
C |
2: 85,990,280 (GRCm39) |
I145V |
probably benign |
Het |
Or5w22 |
A |
G |
2: 87,362,427 (GRCm39) |
T17A |
probably benign |
Het |
Pced1b |
T |
A |
15: 97,282,758 (GRCm39) |
W266R |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,507,422 (GRCm39) |
V378A |
probably damaging |
Het |
Pde8b |
T |
A |
13: 95,169,374 (GRCm39) |
K683N |
probably damaging |
Het |
Pfas |
T |
G |
11: 68,888,872 (GRCm39) |
|
probably null |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plcd4 |
T |
G |
1: 74,587,394 (GRCm39) |
S51R |
probably benign |
Het |
Plekhh2 |
T |
A |
17: 84,884,612 (GRCm39) |
Y775* |
probably null |
Het |
Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
Ppp4r3b |
C |
T |
11: 29,163,765 (GRCm39) |
T47I |
possibly damaging |
Het |
Pter |
A |
T |
2: 12,999,572 (GRCm39) |
D169V |
probably damaging |
Het |
Ptpn12 |
A |
G |
5: 21,203,168 (GRCm39) |
S537P |
probably benign |
Het |
Ptpru |
T |
A |
4: 131,506,361 (GRCm39) |
D1067V |
probably damaging |
Het |
Rcn1 |
A |
T |
2: 105,229,350 (GRCm39) |
D67E |
probably damaging |
Het |
Rfc4 |
T |
C |
16: 22,932,983 (GRCm39) |
E318G |
probably benign |
Het |
Samd13 |
C |
A |
3: 146,368,469 (GRCm39) |
R41L |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,113,926 (GRCm39) |
K13R |
unknown |
Het |
Slc6a2 |
T |
C |
8: 93,699,440 (GRCm39) |
I156T |
possibly damaging |
Het |
Spag16 |
T |
C |
1: 70,036,015 (GRCm39) |
F348L |
probably benign |
Het |
Spag4 |
T |
C |
2: 155,907,342 (GRCm39) |
Y21H |
probably damaging |
Het |
Stam2 |
G |
A |
2: 52,593,187 (GRCm39) |
A368V |
possibly damaging |
Het |
Stc1 |
A |
T |
14: 69,275,776 (GRCm39) |
M190L |
probably benign |
Het |
Stxbp1 |
A |
G |
2: 32,690,629 (GRCm39) |
L475P |
probably damaging |
Het |
Syn3 |
A |
T |
10: 85,916,075 (GRCm39) |
Y304N |
probably damaging |
Het |
Tbc1d15 |
G |
T |
10: 115,056,219 (GRCm39) |
T251K |
probably benign |
Het |
Tbpl2 |
A |
T |
2: 23,985,057 (GRCm39) |
M29K |
probably benign |
Het |
Tead3 |
T |
G |
17: 28,553,698 (GRCm39) |
Q170H |
possibly damaging |
Het |
Tpbpb |
T |
C |
13: 61,049,977 (GRCm39) |
N51D |
probably benign |
Het |
Tstd3 |
A |
G |
4: 21,759,400 (GRCm39) |
M124T |
probably benign |
Het |
Ttyh1 |
T |
A |
7: 4,122,695 (GRCm39) |
H14Q |
possibly damaging |
Het |
Tubgcp4 |
G |
A |
2: 121,020,374 (GRCm39) |
W449* |
probably null |
Het |
Txndc11 |
A |
G |
16: 10,905,639 (GRCm39) |
|
probably null |
Het |
Usp24 |
T |
A |
4: 106,296,024 (GRCm39) |
D2615E |
probably damaging |
Het |
Vars1 |
A |
G |
17: 35,233,734 (GRCm39) |
E1020G |
possibly damaging |
Het |
Vmn2r58 |
A |
G |
7: 41,509,951 (GRCm39) |
I542T |
probably benign |
Het |
Vwf |
A |
G |
6: 125,620,032 (GRCm39) |
Y1570C |
probably damaging |
Het |
Vwf |
A |
T |
6: 125,662,863 (GRCm39) |
Y2749F |
possibly damaging |
Het |
Zfand1 |
A |
C |
3: 10,406,115 (GRCm39) |
V198G |
possibly damaging |
Het |
Zfp536 |
G |
A |
7: 37,268,879 (GRCm39) |
T179I |
probably damaging |
Het |
Zfp599 |
T |
C |
9: 22,161,700 (GRCm39) |
Y155C |
probably benign |
Het |
|
Other mutations in Eml6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01071:Eml6
|
APN |
11 |
29,800,816 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01407:Eml6
|
APN |
11 |
29,705,021 (GRCm39) |
nonsense |
probably null |
|
IGL01434:Eml6
|
APN |
11 |
29,769,090 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01578:Eml6
|
APN |
11 |
29,800,870 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01780:Eml6
|
APN |
11 |
29,755,175 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01821:Eml6
|
APN |
11 |
29,771,699 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01837:Eml6
|
APN |
11 |
29,727,055 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01904:Eml6
|
APN |
11 |
29,788,613 (GRCm39) |
nonsense |
probably null |
|
IGL01972:Eml6
|
APN |
11 |
29,788,451 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02134:Eml6
|
APN |
11 |
29,709,066 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02192:Eml6
|
APN |
11 |
29,755,743 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02377:Eml6
|
APN |
11 |
29,727,282 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02584:Eml6
|
APN |
11 |
29,699,387 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02587:Eml6
|
APN |
11 |
29,734,236 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02810:Eml6
|
APN |
11 |
29,799,016 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02873:Eml6
|
APN |
11 |
29,830,700 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02880:Eml6
|
APN |
11 |
29,699,959 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03289:Eml6
|
APN |
11 |
29,745,328 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL03301:Eml6
|
APN |
11 |
29,714,083 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03386:Eml6
|
APN |
11 |
29,699,934 (GRCm39) |
missense |
probably benign |
|
IGL03407:Eml6
|
APN |
11 |
29,856,330 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Eml6
|
UTSW |
11 |
29,752,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R0125:Eml6
|
UTSW |
11 |
29,832,088 (GRCm39) |
missense |
probably benign |
0.19 |
R0240:Eml6
|
UTSW |
11 |
29,742,367 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0240:Eml6
|
UTSW |
11 |
29,742,367 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0271:Eml6
|
UTSW |
11 |
29,798,949 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0304:Eml6
|
UTSW |
11 |
29,727,441 (GRCm39) |
missense |
probably benign |
0.00 |
R0415:Eml6
|
UTSW |
11 |
29,699,392 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0449:Eml6
|
UTSW |
11 |
29,843,213 (GRCm39) |
missense |
probably benign |
0.01 |
R0538:Eml6
|
UTSW |
11 |
29,710,010 (GRCm39) |
splice site |
probably benign |
|
R0671:Eml6
|
UTSW |
11 |
29,755,065 (GRCm39) |
missense |
probably benign |
0.00 |
R0766:Eml6
|
UTSW |
11 |
29,781,219 (GRCm39) |
splice site |
probably benign |
|
R0800:Eml6
|
UTSW |
11 |
29,699,877 (GRCm39) |
missense |
probably benign |
0.08 |
R0841:Eml6
|
UTSW |
11 |
29,727,430 (GRCm39) |
missense |
probably benign |
0.41 |
R0879:Eml6
|
UTSW |
11 |
29,800,816 (GRCm39) |
critical splice donor site |
probably null |
|
R1061:Eml6
|
UTSW |
11 |
29,727,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R1145:Eml6
|
UTSW |
11 |
29,727,430 (GRCm39) |
missense |
probably benign |
0.41 |
R1145:Eml6
|
UTSW |
11 |
29,727,430 (GRCm39) |
missense |
probably benign |
0.41 |
R1172:Eml6
|
UTSW |
11 |
29,699,824 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1173:Eml6
|
UTSW |
11 |
29,699,824 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1174:Eml6
|
UTSW |
11 |
29,699,824 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1199:Eml6
|
UTSW |
11 |
29,705,044 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1311:Eml6
|
UTSW |
11 |
29,781,088 (GRCm39) |
splice site |
probably benign |
|
R1312:Eml6
|
UTSW |
11 |
29,781,219 (GRCm39) |
splice site |
probably benign |
|
R1355:Eml6
|
UTSW |
11 |
29,783,085 (GRCm39) |
missense |
probably benign |
0.03 |
R1370:Eml6
|
UTSW |
11 |
29,783,085 (GRCm39) |
missense |
probably benign |
0.03 |
R1457:Eml6
|
UTSW |
11 |
29,974,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1486:Eml6
|
UTSW |
11 |
29,755,114 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1511:Eml6
|
UTSW |
11 |
29,768,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R1532:Eml6
|
UTSW |
11 |
29,742,256 (GRCm39) |
splice site |
probably null |
|
R1642:Eml6
|
UTSW |
11 |
29,727,001 (GRCm39) |
critical splice donor site |
probably null |
|
R1682:Eml6
|
UTSW |
11 |
29,709,065 (GRCm39) |
missense |
probably benign |
0.13 |
R1687:Eml6
|
UTSW |
11 |
29,783,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Eml6
|
UTSW |
11 |
29,831,975 (GRCm39) |
missense |
probably benign |
0.19 |
R1797:Eml6
|
UTSW |
11 |
29,832,041 (GRCm39) |
missense |
probably benign |
0.09 |
R1837:Eml6
|
UTSW |
11 |
29,699,802 (GRCm39) |
splice site |
probably null |
|
R1874:Eml6
|
UTSW |
11 |
29,781,136 (GRCm39) |
missense |
probably damaging |
0.99 |
R1967:Eml6
|
UTSW |
11 |
29,974,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R1969:Eml6
|
UTSW |
11 |
29,783,075 (GRCm39) |
missense |
probably benign |
|
R2007:Eml6
|
UTSW |
11 |
29,798,814 (GRCm39) |
critical splice donor site |
probably null |
|
R2012:Eml6
|
UTSW |
11 |
29,781,128 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2198:Eml6
|
UTSW |
11 |
29,800,935 (GRCm39) |
missense |
probably benign |
0.01 |
R2217:Eml6
|
UTSW |
11 |
29,768,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:Eml6
|
UTSW |
11 |
29,768,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R2403:Eml6
|
UTSW |
11 |
29,752,434 (GRCm39) |
missense |
probably benign |
0.05 |
R2520:Eml6
|
UTSW |
11 |
29,741,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Eml6
|
UTSW |
11 |
29,783,049 (GRCm39) |
splice site |
probably benign |
|
R2938:Eml6
|
UTSW |
11 |
29,783,049 (GRCm39) |
splice site |
probably benign |
|
R3085:Eml6
|
UTSW |
11 |
29,759,332 (GRCm39) |
missense |
probably damaging |
0.96 |
R3236:Eml6
|
UTSW |
11 |
29,781,097 (GRCm39) |
critical splice donor site |
probably null |
|
R3738:Eml6
|
UTSW |
11 |
29,753,137 (GRCm39) |
missense |
probably benign |
0.20 |
R3739:Eml6
|
UTSW |
11 |
29,753,137 (GRCm39) |
missense |
probably benign |
0.20 |
R3752:Eml6
|
UTSW |
11 |
29,759,360 (GRCm39) |
missense |
probably benign |
0.06 |
R3854:Eml6
|
UTSW |
11 |
29,699,905 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3941:Eml6
|
UTSW |
11 |
29,753,167 (GRCm39) |
missense |
probably damaging |
0.98 |
R4034:Eml6
|
UTSW |
11 |
29,753,137 (GRCm39) |
missense |
probably benign |
0.20 |
R4049:Eml6
|
UTSW |
11 |
29,788,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R4108:Eml6
|
UTSW |
11 |
29,755,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R4657:Eml6
|
UTSW |
11 |
29,755,108 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4662:Eml6
|
UTSW |
11 |
29,727,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R4665:Eml6
|
UTSW |
11 |
29,769,007 (GRCm39) |
nonsense |
probably null |
|
R4721:Eml6
|
UTSW |
11 |
29,788,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4729:Eml6
|
UTSW |
11 |
29,783,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R4766:Eml6
|
UTSW |
11 |
29,755,757 (GRCm39) |
missense |
probably benign |
0.22 |
R4810:Eml6
|
UTSW |
11 |
29,705,011 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4831:Eml6
|
UTSW |
11 |
29,727,052 (GRCm39) |
nonsense |
probably null |
|
R5035:Eml6
|
UTSW |
11 |
29,804,187 (GRCm39) |
missense |
probably benign |
0.00 |
R5064:Eml6
|
UTSW |
11 |
29,699,300 (GRCm39) |
missense |
probably benign |
0.12 |
R5103:Eml6
|
UTSW |
11 |
29,800,905 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5121:Eml6
|
UTSW |
11 |
29,694,606 (GRCm39) |
missense |
probably benign |
0.03 |
R5161:Eml6
|
UTSW |
11 |
29,974,467 (GRCm39) |
missense |
probably damaging |
0.99 |
R5211:Eml6
|
UTSW |
11 |
29,804,145 (GRCm39) |
missense |
probably benign |
0.02 |
R5268:Eml6
|
UTSW |
11 |
29,753,108 (GRCm39) |
missense |
probably benign |
0.15 |
R5390:Eml6
|
UTSW |
11 |
29,710,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R5529:Eml6
|
UTSW |
11 |
29,714,126 (GRCm39) |
missense |
probably benign |
0.04 |
R6239:Eml6
|
UTSW |
11 |
29,699,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Eml6
|
UTSW |
11 |
29,769,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R6395:Eml6
|
UTSW |
11 |
29,759,321 (GRCm39) |
missense |
probably benign |
0.00 |
R6476:Eml6
|
UTSW |
11 |
29,741,971 (GRCm39) |
critical splice donor site |
probably null |
|
R6483:Eml6
|
UTSW |
11 |
29,699,875 (GRCm39) |
missense |
probably benign |
0.00 |
R6701:Eml6
|
UTSW |
11 |
29,735,748 (GRCm39) |
missense |
probably damaging |
0.98 |
R6753:Eml6
|
UTSW |
11 |
29,704,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R6809:Eml6
|
UTSW |
11 |
29,753,161 (GRCm39) |
missense |
probably benign |
0.23 |
R6847:Eml6
|
UTSW |
11 |
29,768,447 (GRCm39) |
missense |
probably benign |
0.00 |
R6855:Eml6
|
UTSW |
11 |
29,701,381 (GRCm39) |
splice site |
probably null |
|
R7168:Eml6
|
UTSW |
11 |
29,788,529 (GRCm39) |
missense |
probably benign |
0.01 |
R7175:Eml6
|
UTSW |
11 |
29,734,231 (GRCm39) |
missense |
probably benign |
0.00 |
R7305:Eml6
|
UTSW |
11 |
29,727,258 (GRCm39) |
missense |
probably benign |
0.01 |
R7615:Eml6
|
UTSW |
11 |
29,752,501 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7692:Eml6
|
UTSW |
11 |
29,703,085 (GRCm39) |
missense |
probably damaging |
0.98 |
R7980:Eml6
|
UTSW |
11 |
29,783,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R8026:Eml6
|
UTSW |
11 |
29,699,973 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8046:Eml6
|
UTSW |
11 |
29,708,981 (GRCm39) |
missense |
probably damaging |
0.99 |
R8049:Eml6
|
UTSW |
11 |
29,843,201 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8114:Eml6
|
UTSW |
11 |
29,704,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R8425:Eml6
|
UTSW |
11 |
29,705,008 (GRCm39) |
missense |
probably benign |
0.00 |
R8799:Eml6
|
UTSW |
11 |
29,708,981 (GRCm39) |
missense |
probably benign |
0.11 |
R8945:Eml6
|
UTSW |
11 |
29,703,110 (GRCm39) |
missense |
probably damaging |
0.98 |
R8977:Eml6
|
UTSW |
11 |
29,734,182 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8986:Eml6
|
UTSW |
11 |
29,755,181 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9088:Eml6
|
UTSW |
11 |
29,768,424 (GRCm39) |
missense |
probably damaging |
0.96 |
R9150:Eml6
|
UTSW |
11 |
29,755,791 (GRCm39) |
missense |
probably benign |
0.15 |
R9209:Eml6
|
UTSW |
11 |
29,781,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R9288:Eml6
|
UTSW |
11 |
29,788,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9467:Eml6
|
UTSW |
11 |
29,769,076 (GRCm39) |
missense |
probably damaging |
0.99 |
R9481:Eml6
|
UTSW |
11 |
29,788,641 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9534:Eml6
|
UTSW |
11 |
29,734,155 (GRCm39) |
missense |
possibly damaging |
0.45 |
RF037:Eml6
|
UTSW |
11 |
29,702,549 (GRCm39) |
critical splice acceptor site |
probably benign |
|
RF039:Eml6
|
UTSW |
11 |
29,702,551 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTGCCAAAATTTGTTGAGAACGCC -3'
(R):5'- TGCTTACTGTTGAGACTTGAGCCTG -3'
Sequencing Primer
(F):5'- TGTTGAGAACGCCAACAACAG -3'
(R):5'- CTTCTGCACACAGAGCAGTG -3'
|
Posted On |
2014-05-14 |