Incidental Mutation 'R0240:Eml6'
| ID |
59329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml6
|
| Ensembl Gene |
ENSMUSG00000044072 |
| Gene Name |
echinoderm microtubule associated protein like 6 |
| Synonyms |
2900083P10Rik, C230094A16Rik |
| MMRRC Submission |
038478-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R0240 (G1)
|
| Quality Score |
129 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
29693048-29976033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29742367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1057
(V1057A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058902]
|
| AlphaFold |
Q5SQM0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058902
AA Change: V1057A
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072
AA Change: V1057A
| 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 |
|
| Meta Mutation Damage Score |
0.1222 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
100% (112/112) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
T |
C |
8: 123,506,920 (GRCm39) |
L71P |
probably damaging |
Het |
| Adamts2 |
A |
T |
11: 50,666,201 (GRCm39) |
D399V |
probably damaging |
Het |
| Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
| Alg11 |
T |
A |
8: 22,555,468 (GRCm39) |
V243D |
possibly damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,318,864 (GRCm39) |
L585Q |
probably damaging |
Het |
| Armh4 |
A |
G |
14: 50,005,859 (GRCm39) |
|
probably benign |
Het |
| Atp7a |
T |
A |
X: 105,153,447 (GRCm39) |
N1117K |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,114,844 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
G |
A |
2: 24,528,669 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
T |
A |
14: 29,818,926 (GRCm39) |
M1210L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,001,234 (GRCm39) |
|
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,852,670 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,559,315 (GRCm39) |
S1858T |
probably benign |
Het |
| Cotl1 |
C |
T |
8: 120,567,063 (GRCm39) |
W26* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,492,635 (GRCm39) |
T3000A |
probably benign |
Het |
| Dcp1a |
T |
A |
14: 30,206,551 (GRCm39) |
|
probably benign |
Het |
| Ddhd2 |
A |
T |
8: 26,229,617 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
| Dnm3 |
G |
T |
1: 162,181,194 (GRCm39) |
Q162K |
probably benign |
Het |
| Dpy19l2 |
G |
T |
9: 24,569,876 (GRCm39) |
A359D |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,676,746 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,897,873 (GRCm39) |
K1025R |
probably damaging |
Het |
| Eml2 |
C |
A |
7: 18,918,797 (GRCm39) |
Y82* |
probably null |
Het |
| Eral1 |
A |
G |
11: 77,966,884 (GRCm39) |
|
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,220,976 (GRCm39) |
S911P |
probably benign |
Het |
| Fbxo8 |
A |
G |
8: 57,043,296 (GRCm39) |
|
probably benign |
Het |
| Flrt1 |
A |
T |
19: 7,074,475 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,766,235 (GRCm39) |
|
probably benign |
Het |
| G3bp1 |
G |
A |
11: 55,382,854 (GRCm39) |
G139D |
probably damaging |
Het |
| Gabra6 |
C |
T |
11: 42,205,774 (GRCm39) |
V351I |
probably benign |
Het |
| Galc |
A |
T |
12: 98,218,293 (GRCm39) |
H186Q |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,890,177 (GRCm39) |
D702G |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,010,085 (GRCm39) |
E291G |
possibly damaging |
Het |
| Hectd3 |
T |
G |
4: 116,859,810 (GRCm39) |
V749G |
probably damaging |
Het |
| Kash5 |
C |
T |
7: 44,849,675 (GRCm39) |
A83T |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,187,648 (GRCm39) |
I703N |
probably benign |
Het |
| Kcnma1 |
G |
A |
14: 23,544,647 (GRCm39) |
T505I |
probably damaging |
Het |
| Kctd11 |
A |
G |
11: 69,770,640 (GRCm39) |
C133R |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,672,880 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,017,335 (GRCm39) |
L842P |
probably damaging |
Het |
| Ldlr |
T |
C |
9: 21,649,295 (GRCm39) |
|
probably benign |
Het |
| Lipk |
G |
A |
19: 34,024,210 (GRCm39) |
R336H |
probably benign |
Het |
| Lrrc24 |
T |
A |
15: 76,607,409 (GRCm39) |
D58V |
probably damaging |
Het |
| Lrsam1 |
A |
G |
2: 32,845,197 (GRCm39) |
L106P |
probably damaging |
Het |
| Milr1 |
G |
A |
11: 106,645,722 (GRCm39) |
W88* |
probably null |
Het |
| Mmp10 |
A |
G |
9: 7,506,544 (GRCm39) |
D340G |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,391,600 (GRCm39) |
Y285F |
possibly damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,320 (GRCm39) |
T408A |
probably benign |
Het |
| Nefm |
T |
A |
14: 68,358,583 (GRCm39) |
K484* |
probably null |
Het |
| Nfasc |
A |
G |
1: 132,529,721 (GRCm39) |
S814P |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,161,941 (GRCm39) |
V863A |
probably benign |
Het |
| Nos1 |
C |
T |
5: 118,005,948 (GRCm39) |
P223S |
probably benign |
Het |
| Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
| Or13c7 |
T |
A |
4: 43,854,512 (GRCm39) |
S68T |
probably damaging |
Het |
| Or4c108 |
A |
T |
2: 88,803,740 (GRCm39) |
L165Q |
probably damaging |
Het |
| Or5an6 |
A |
T |
19: 12,372,327 (GRCm39) |
E233D |
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,313,730 (GRCm39) |
S119P |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,295,406 (GRCm39) |
|
probably null |
Het |
| Otog |
C |
A |
7: 45,913,456 (GRCm39) |
|
probably null |
Het |
| Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
| Pbx1 |
G |
A |
1: 168,031,051 (GRCm39) |
T189I |
possibly damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,993,792 (GRCm39) |
I908T |
possibly damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,697,309 (GRCm39) |
W124R |
probably damaging |
Het |
| Phex |
C |
A |
X: 155,969,214 (GRCm39) |
D587Y |
probably damaging |
Het |
| Plcb3 |
A |
T |
19: 6,940,363 (GRCm39) |
D435E |
probably benign |
Het |
| Plce1 |
A |
C |
19: 38,717,330 (GRCm39) |
K1373T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,324,045 (GRCm39) |
A311V |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,232,374 (GRCm39) |
S421T |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,743,087 (GRCm39) |
|
probably null |
Het |
| Qrich1 |
A |
G |
9: 108,411,333 (GRCm39) |
D286G |
probably damaging |
Het |
| Rcc1 |
C |
A |
4: 132,060,226 (GRCm39) |
G393V |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,311,043 (GRCm39) |
N290S |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,430,175 (GRCm39) |
|
probably benign |
Het |
| Rhpn1 |
C |
T |
15: 75,585,971 (GRCm39) |
T628I |
probably benign |
Het |
| Rilp |
A |
G |
11: 75,401,747 (GRCm39) |
R176G |
probably benign |
Het |
| Riok3 |
C |
T |
18: 12,288,284 (GRCm39) |
A487V |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,126,219 (GRCm39) |
T45A |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,219,513 (GRCm39) |
V137A |
probably benign |
Het |
| Rps6ka1 |
C |
A |
4: 133,575,842 (GRCm39) |
Q693H |
probably benign |
Het |
| Scn2a |
G |
T |
2: 65,566,118 (GRCm39) |
V1381F |
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,955,275 (GRCm39) |
H112L |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,984,502 (GRCm39) |
W696R |
probably damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,532,651 (GRCm39) |
V408F |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,285,008 (GRCm39) |
I332N |
probably benign |
Het |
| Slc37a3 |
A |
G |
6: 39,314,172 (GRCm39) |
V480A |
probably benign |
Het |
| Slc45a4 |
T |
A |
15: 73,453,755 (GRCm39) |
E674D |
probably benign |
Het |
| Smpd3 |
T |
C |
8: 106,991,788 (GRCm39) |
E255G |
probably damaging |
Het |
| Snx29 |
C |
T |
16: 11,478,417 (GRCm39) |
R658W |
probably damaging |
Het |
| Sppl2a |
A |
T |
2: 126,762,256 (GRCm39) |
M275K |
probably benign |
Het |
| Stac |
T |
C |
9: 111,464,089 (GRCm39) |
N59S |
probably damaging |
Het |
| Stk25 |
A |
T |
1: 93,554,782 (GRCm39) |
L131Q |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,100,486 (GRCm39) |
|
probably benign |
Het |
| Thbs1 |
C |
A |
2: 117,944,874 (GRCm39) |
N229K |
probably damaging |
Het |
| Tmx2 |
A |
T |
2: 84,506,186 (GRCm39) |
H89Q |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tradd |
T |
C |
8: 105,985,924 (GRCm39) |
N209S |
possibly damaging |
Het |
| Trappc3l |
A |
T |
10: 33,974,928 (GRCm39) |
R119* |
probably null |
Het |
| Trmt1l |
G |
A |
1: 151,333,205 (GRCm39) |
|
probably benign |
Het |
| Ublcp1 |
G |
T |
11: 44,349,104 (GRCm39) |
Y243* |
probably null |
Het |
| Usp24 |
C |
A |
4: 106,271,601 (GRCm39) |
C2158* |
probably null |
Het |
| Usp34 |
A |
T |
11: 23,383,206 (GRCm39) |
K2088N |
probably damaging |
Het |
| Vmn1r53 |
G |
C |
6: 90,200,925 (GRCm39) |
S133C |
probably damaging |
Het |
| Vmn2r52 |
A |
G |
7: 9,893,327 (GRCm39) |
V604A |
probably damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,525,061 (GRCm39) |
K240E |
probably benign |
Het |
| Wdr13 |
T |
G |
X: 7,994,284 (GRCm39) |
D242A |
probably damaging |
Het |
| Wwp1 |
C |
T |
4: 19,641,734 (GRCm39) |
|
probably null |
Het |
| Zan |
G |
A |
5: 137,396,624 (GRCm39) |
H4311Y |
unknown |
Het |
| Zc3h12c |
C |
A |
9: 52,055,383 (GRCm39) |
R123L |
possibly damaging |
Het |
| Zfp125 |
A |
T |
12: 20,950,562 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp318 |
C |
T |
17: 46,707,739 (GRCm39) |
P266S |
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 |
|
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 |
|
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'- ACAGATGCCAACCCTCTTGCTTG -3'
(R):5'- GCGGTGCTAAAGGCCCAGTTAC -3'
Sequencing Primer
(F):5'- GTTATCATGAGATGCCACAGC -3'
(R):5'- CATGTAAGCATGTGAGTGCATACAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation