Incidental Mutation 'R5121:Eml6'
ID |
393047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml6
|
Ensembl Gene |
ENSMUSG00000044072 |
Gene Name |
echinoderm microtubule associated protein like 6 |
Synonyms |
2900083P10Rik, C230094A16Rik |
MMRRC Submission |
042709-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.228)
|
Stock # |
R5121 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
29693048-29976033 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29694606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1953
(F1953L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058902]
[ENSMUST00000060992]
[ENSMUST00000078830]
[ENSMUST00000102841]
[ENSMUST00000102842]
[ENSMUST00000102843]
[ENSMUST00000170731]
|
AlphaFold |
Q5SQM0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058902
AA Change: F1953L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000051080 Gene: ENSMUSG00000044072 AA Change: F1953L
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: ENSMUST00000141719
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125735
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137017
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142651
|
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: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 101 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
A |
G |
2: 58,171,662 (GRCm39) |
I234T |
probably damaging |
Het |
Adam24 |
A |
G |
8: 41,132,550 (GRCm39) |
E6G |
probably damaging |
Het |
Amz1 |
A |
G |
5: 140,729,919 (GRCm39) |
D151G |
probably benign |
Het |
Arhgap24 |
T |
C |
5: 102,989,201 (GRCm39) |
L10P |
probably damaging |
Het |
Arhgap25 |
T |
G |
6: 87,509,846 (GRCm39) |
N8T |
probably benign |
Het |
Arsi |
T |
G |
18: 61,050,511 (GRCm39) |
F465V |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,326,024 (GRCm39) |
V293A |
probably damaging |
Het |
Bzw2 |
A |
G |
12: 36,154,350 (GRCm39) |
L340P |
probably damaging |
Het |
Camkmt |
C |
T |
17: 85,404,009 (GRCm39) |
T77I |
probably benign |
Het |
Camsap1 |
G |
T |
2: 25,825,562 (GRCm39) |
Q1375K |
probably benign |
Het |
Catsper2 |
G |
T |
2: 121,227,604 (GRCm39) |
|
probably null |
Het |
Cd163 |
T |
C |
6: 124,294,948 (GRCm39) |
C671R |
probably damaging |
Het |
Cdk7 |
T |
C |
13: 100,854,192 (GRCm39) |
|
probably null |
Het |
Cfi |
C |
T |
3: 129,666,726 (GRCm39) |
P483L |
probably damaging |
Het |
Chn2 |
C |
T |
6: 54,195,546 (GRCm39) |
L72F |
possibly damaging |
Het |
Cimip4 |
C |
T |
15: 78,270,373 (GRCm39) |
E132K |
probably benign |
Het |
Cntn2 |
C |
A |
1: 132,444,798 (GRCm39) |
E363* |
probably null |
Het |
Crebbp |
T |
C |
16: 3,911,375 (GRCm39) |
E999G |
probably damaging |
Het |
Cspp1 |
T |
A |
1: 10,196,688 (GRCm39) |
N900K |
probably damaging |
Het |
Cts3 |
A |
C |
13: 61,715,409 (GRCm39) |
I141M |
probably benign |
Het |
Cwc27 |
A |
T |
13: 104,940,861 (GRCm39) |
V166D |
probably damaging |
Het |
Defb26 |
T |
C |
2: 152,350,085 (GRCm39) |
E65G |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 31,029,327 (GRCm39) |
T4099A |
probably benign |
Het |
Etl4 |
T |
A |
2: 20,344,922 (GRCm39) |
|
probably null |
Het |
Fbln1 |
A |
G |
15: 85,121,872 (GRCm39) |
E331G |
probably damaging |
Het |
Gabra4 |
G |
A |
5: 71,729,546 (GRCm39) |
H76Y |
probably benign |
Het |
Gcat |
T |
C |
15: 78,919,482 (GRCm39) |
V149A |
probably damaging |
Het |
Glp2r |
A |
T |
11: 67,612,926 (GRCm39) |
|
probably null |
Het |
Gm572 |
T |
C |
4: 148,751,302 (GRCm39) |
|
probably null |
Het |
Golgb1 |
T |
C |
16: 36,739,620 (GRCm39) |
V2653A |
probably damaging |
Het |
Grap2 |
G |
A |
15: 80,530,345 (GRCm39) |
R155Q |
possibly damaging |
Het |
Gspt1 |
T |
A |
16: 11,041,165 (GRCm39) |
I533L |
probably damaging |
Het |
Gypa |
A |
T |
8: 81,222,977 (GRCm39) |
Y27F |
unknown |
Het |
Hipk4 |
G |
A |
7: 27,228,917 (GRCm39) |
V456I |
probably benign |
Het |
Homer2 |
A |
T |
7: 81,299,311 (GRCm39) |
D51E |
probably benign |
Het |
Hspa1b |
A |
T |
17: 35,176,980 (GRCm39) |
V335E |
possibly damaging |
Het |
Ift122 |
A |
G |
6: 115,889,495 (GRCm39) |
T827A |
probably benign |
Het |
Igkv1-35 |
T |
C |
6: 69,988,119 (GRCm39) |
N58S |
probably benign |
Het |
Kat6b |
A |
T |
14: 21,669,326 (GRCm39) |
H297L |
probably damaging |
Het |
Kirrel3 |
G |
T |
9: 34,924,601 (GRCm39) |
G296W |
probably damaging |
Het |
Klhl17 |
A |
G |
4: 156,315,082 (GRCm39) |
V525A |
probably benign |
Het |
Lrrn1 |
G |
T |
6: 107,546,168 (GRCm39) |
R655S |
possibly damaging |
Het |
Ltk |
T |
C |
2: 119,583,708 (GRCm39) |
N256D |
probably damaging |
Het |
Mill2 |
G |
A |
7: 18,590,591 (GRCm39) |
G209S |
probably benign |
Het |
Mmp27 |
A |
T |
9: 7,581,369 (GRCm39) |
H544L |
probably benign |
Het |
Mphosph10 |
A |
G |
7: 64,039,344 (GRCm39) |
S209P |
probably damaging |
Het |
Mphosph8 |
A |
T |
14: 56,914,003 (GRCm39) |
K415* |
probably null |
Het |
Myb |
T |
A |
10: 21,002,137 (GRCm39) |
M616L |
probably benign |
Het |
Myo15b |
C |
T |
11: 115,776,880 (GRCm39) |
R867W |
probably damaging |
Het |
Myo18b |
A |
T |
5: 113,022,346 (GRCm39) |
|
probably benign |
Het |
Nip7 |
A |
G |
8: 107,783,589 (GRCm39) |
E8G |
possibly damaging |
Het |
Optn |
T |
A |
2: 5,050,917 (GRCm39) |
I155F |
probably benign |
Het |
Or2f1b |
T |
A |
6: 42,739,931 (GRCm39) |
L315* |
probably null |
Het |
Or4f62 |
A |
T |
2: 111,986,631 (GRCm39) |
M112L |
possibly damaging |
Het |
Or52e4 |
A |
G |
7: 104,705,689 (GRCm39) |
T79A |
possibly damaging |
Het |
Or5c1 |
T |
G |
2: 37,222,601 (GRCm39) |
F281V |
probably damaging |
Het |
Or6b6 |
T |
C |
7: 106,571,438 (GRCm39) |
I38V |
probably benign |
Het |
Papolb |
A |
T |
5: 142,514,592 (GRCm39) |
H350Q |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,666,197 (GRCm39) |
M1128L |
probably benign |
Het |
Pcdhb5 |
T |
A |
18: 37,454,170 (GRCm39) |
N183K |
probably benign |
Het |
Pde12 |
G |
T |
14: 26,390,577 (GRCm39) |
S44* |
probably null |
Het |
Peg3 |
T |
C |
7: 6,713,288 (GRCm39) |
K645E |
probably benign |
Het |
Pkd1 |
C |
T |
17: 24,792,437 (GRCm39) |
R1375C |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,525,200 (GRCm39) |
E21K |
probably damaging |
Het |
Plk2 |
C |
T |
13: 110,535,958 (GRCm39) |
P554L |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Polg |
A |
T |
7: 79,114,353 (GRCm39) |
W203R |
probably damaging |
Het |
Ppcdc |
A |
G |
9: 57,328,446 (GRCm39) |
V65A |
possibly damaging |
Het |
Ppm1m |
T |
A |
9: 106,073,004 (GRCm39) |
Q353L |
probably benign |
Het |
Ppp1r13l |
G |
C |
7: 19,104,020 (GRCm39) |
R167P |
probably damaging |
Het |
Ppp1r9b |
T |
A |
11: 94,887,479 (GRCm39) |
V497E |
probably damaging |
Het |
Prpf6 |
T |
A |
2: 181,277,836 (GRCm39) |
H399Q |
probably benign |
Het |
Psg25 |
T |
A |
7: 18,260,461 (GRCm39) |
I146F |
possibly damaging |
Het |
Rasgef1c |
A |
T |
11: 49,851,256 (GRCm39) |
Q116L |
probably damaging |
Het |
Rbbp9 |
A |
G |
2: 144,392,676 (GRCm39) |
V8A |
possibly damaging |
Het |
Rfk |
T |
C |
19: 17,376,930 (GRCm39) |
F144S |
probably damaging |
Het |
Rfwd3 |
A |
C |
8: 112,009,385 (GRCm39) |
|
probably null |
Het |
Rhpn1 |
T |
C |
15: 75,581,109 (GRCm39) |
I117T |
probably damaging |
Het |
Sars2 |
A |
T |
7: 28,447,333 (GRCm39) |
N244Y |
probably damaging |
Het |
Scnn1b |
A |
T |
7: 121,502,110 (GRCm39) |
H256L |
probably benign |
Het |
Sgcz |
G |
A |
8: 38,006,821 (GRCm39) |
T195I |
probably damaging |
Het |
Sh3gl2 |
T |
A |
4: 85,297,494 (GRCm39) |
H157Q |
probably benign |
Het |
Spen |
T |
A |
4: 141,203,410 (GRCm39) |
Q1739L |
probably benign |
Het |
Susd1 |
G |
T |
4: 59,379,657 (GRCm39) |
S323R |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,242,641 (GRCm39) |
E1482G |
possibly damaging |
Het |
Tex15 |
A |
T |
8: 34,061,794 (GRCm39) |
K408I |
probably damaging |
Het |
Trem1 |
T |
A |
17: 48,539,864 (GRCm39) |
F14L |
probably null |
Het |
Trim26 |
G |
T |
17: 37,161,958 (GRCm39) |
E126* |
probably null |
Het |
Trpv3 |
T |
C |
11: 73,168,660 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,746,835 (GRCm39) |
|
probably null |
Het |
Ubap1 |
C |
T |
4: 41,379,688 (GRCm39) |
L301F |
probably benign |
Het |
Uchl1 |
T |
C |
5: 66,833,780 (GRCm39) |
M12T |
probably benign |
Het |
Vill |
C |
T |
9: 118,899,093 (GRCm39) |
T253I |
possibly damaging |
Het |
Vmn2r107 |
C |
T |
17: 20,576,015 (GRCm39) |
T115I |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,273,815 (GRCm39) |
S21P |
probably benign |
Het |
Wapl |
A |
G |
14: 34,399,119 (GRCm39) |
K63E |
probably benign |
Het |
Wnt2 |
T |
C |
6: 18,023,125 (GRCm39) |
K175E |
possibly damaging |
Het |
Zfp592 |
T |
C |
7: 80,673,309 (GRCm39) |
L91P |
probably damaging |
Het |
Zfp74 |
T |
C |
7: 29,631,932 (GRCm39) |
|
probably null |
Het |
Zglp1 |
A |
T |
9: 20,973,957 (GRCm39) |
I243N |
probably benign |
Het |
Zranb1 |
A |
G |
7: 132,551,916 (GRCm39) |
E215G |
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 |
R1699:Eml6
|
UTSW |
11 |
29,696,282 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- AGGTTTTAGTCTCCAGAACAGAAG -3'
(R):5'- CAGACATGGTGGCTCACATC -3'
Sequencing Primer
(F):5'- TTTTAGTCTCCAGAACAGAAGCAAAC -3'
(R):5'- GACATGGTGGCTCACATCTATAATCC -3'
|
Posted On |
2016-06-15 |