Incidental Mutation 'R1183:Eml5'
| ID |
101798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
039255-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R1183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
98786805-98901484 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98792046 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1874
(I1874V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057000]
[ENSMUST00000065716]
[ENSMUST00000110104]
[ENSMUST00000110105]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057000
|
| SMART Domains |
Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
440 |
463 |
7.16e-1 |
SMART |
|
ZnF_C3H1
|
465 |
484 |
5.27e1 |
SMART |
|
ZnF_C3H1
|
520 |
542 |
5.55e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065716
AA Change: I1827V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: I1827V
| 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 |
probably benign
Transcript: ENSMUST00000110104
|
| SMART Domains |
Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
465 |
488 |
7.16e-1 |
SMART |
|
ZnF_C3H1
|
490 |
509 |
5.27e1 |
SMART |
|
ZnF_C3H1
|
545 |
567 |
5.55e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110105
|
| SMART Domains |
Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
596 |
619 |
7.16e-1 |
SMART |
|
ZnF_C3H1
|
621 |
640 |
5.27e1 |
SMART |
|
ZnF_C3H1
|
676 |
698 |
5.55e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222717
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223282
AA Change: I1874V
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
T |
A |
3: 36,895,303 (GRCm38) |
L366Q |
possibly damaging |
Het |
| Aars |
T |
G |
8: 111,041,574 (GRCm38) |
Y192* |
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,985,253 (GRCm38) |
Y1100C |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 27,084,080 (GRCm38) |
W132R |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,114,388 (GRCm38) |
V497E |
probably damaging |
Het |
| Adtrp |
T |
G |
13: 41,828,337 (GRCm38) |
|
probably benign |
Het |
| Alg9 |
T |
A |
9: 50,789,533 (GRCm38) |
L201Q |
possibly damaging |
Het |
| Ap4e1 |
T |
A |
2: 127,014,201 (GRCm38) |
I84K |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,650,293 (GRCm38) |
S288P |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 84,580,217 (GRCm38) |
D1367G |
probably damaging |
Het |
| Card19 |
C |
T |
13: 49,205,251 (GRCm38) |
R82Q |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,325,598 (GRCm38) |
I226V |
possibly damaging |
Het |
| Ces1f |
A |
C |
8: 93,268,005 (GRCm38) |
D259E |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,586,266 (GRCm38) |
M1072K |
probably benign |
Het |
| Dcpp2 |
T |
A |
17: 23,900,494 (GRCm38) |
V94D |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,446,648 (GRCm38) |
D3209G |
possibly damaging |
Het |
| Dsg1c |
A |
G |
18: 20,283,198 (GRCm38) |
T719A |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,191,740 (GRCm38) |
W1167* |
probably null |
Het |
| Epg5 |
A |
G |
18: 77,960,711 (GRCm38) |
T645A |
probably damaging |
Het |
| F2rl2 |
T |
C |
13: 95,701,113 (GRCm38) |
L222S |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,034,388 (GRCm38) |
C495S |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,321,617 (GRCm38) |
D2106E |
probably benign |
Het |
| Fgf14 |
T |
A |
14: 124,676,524 (GRCm38) |
N65I |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,595,102 (GRCm38) |
Y497H |
probably damaging |
Het |
| Fn1 |
A |
C |
1: 71,586,245 (GRCm38) |
D2376E |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,907,465 (GRCm38) |
T453A |
possibly damaging |
Het |
| Galnt1 |
G |
T |
18: 24,271,590 (GRCm38) |
W328L |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,353,838 (GRCm38) |
V97A |
possibly damaging |
Het |
| Gatad1 |
A |
G |
5: 3,643,707 (GRCm38) |
V154A |
possibly damaging |
Het |
| Gdf15 |
A |
G |
8: 70,631,552 (GRCm38) |
F21L |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,121,900 (GRCm38) |
F273S |
possibly damaging |
Het |
| Invs |
A |
T |
4: 48,421,725 (GRCm38) |
R786W |
possibly damaging |
Het |
| Itfg1 |
T |
G |
8: 85,780,523 (GRCm38) |
E236A |
probably benign |
Het |
| Jak3 |
A |
T |
8: 71,684,550 (GRCm38) |
I752F |
probably damaging |
Het |
| Kcnip3 |
C |
A |
2: 127,465,065 (GRCm38) |
G144W |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 105,382,966 (GRCm38) |
H925R |
probably benign |
Het |
| Kdr |
C |
T |
5: 75,946,851 (GRCm38) |
A1011T |
probably damaging |
Het |
| Kif13b |
C |
A |
14: 64,782,377 (GRCm38) |
H1398Q |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,477,519 (GRCm38) |
|
probably null |
Het |
| Lrtm2 |
T |
C |
6: 119,320,885 (GRCm38) |
D65G |
probably benign |
Het |
| Lyz1 |
A |
G |
10: 117,292,810 (GRCm38) |
L10P |
probably damaging |
Het |
| Metap2 |
A |
T |
10: 93,870,184 (GRCm38) |
N245K |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,954,831 (GRCm38) |
D297G |
possibly damaging |
Het |
| Mocs3 |
A |
G |
2: 168,231,653 (GRCm38) |
D340G |
possibly damaging |
Het |
| Mtfr1l |
A |
G |
4: 134,529,125 (GRCm38) |
L243P |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,971,048 (GRCm38) |
I105T |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,857,745 (GRCm38) |
S1967P |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,023,521 (GRCm38) |
N2248S |
possibly damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,590,088 (GRCm38) |
D35G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,159,945 (GRCm38) |
M764K |
probably benign |
Het |
| Olfr519 |
A |
G |
7: 108,893,741 (GRCm38) |
L222P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,371,912 (GRCm38) |
S1753G |
probably damaging |
Het |
| Otog |
G |
A |
7: 46,289,755 (GRCm38) |
V2070I |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,086,753 (GRCm38) |
V961A |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,261,238 (GRCm38) |
S169L |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 35,929,443 (GRCm38) |
S542T |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,490,330 (GRCm38) |
Y219H |
possibly damaging |
Het |
| Ptges3l |
T |
C |
11: 101,421,905 (GRCm38) |
D113G |
possibly damaging |
Het |
| Pycrl |
G |
A |
15: 75,918,798 (GRCm38) |
L71F |
probably benign |
Het |
| Ramp3 |
A |
G |
11: 6,674,867 (GRCm38) |
K54E |
possibly damaging |
Het |
| Rbpms |
C |
A |
8: 33,804,072 (GRCm38) |
Q214H |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 (GRCm38) |
|
probably benign |
Het |
| Robo4 |
C |
A |
9: 37,408,052 (GRCm38) |
D565E |
probably damaging |
Het |
| S100a1 |
C |
T |
3: 90,511,334 (GRCm38) |
V58I |
probably benign |
Het |
| Setx |
T |
A |
2: 29,180,092 (GRCm38) |
D2636E |
probably benign |
Het |
| Sun2 |
A |
T |
15: 79,728,468 (GRCm38) |
V417E |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,841,769 (GRCm38) |
N99S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 33,574,865 (GRCm38) |
D1441G |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,247,976 (GRCm38) |
M627K |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,614,391 (GRCm38) |
Y395C |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,923,564 (GRCm38) |
Y1129H |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,348,091 (GRCm38) |
R470S |
probably damaging |
Het |
| Tsg101 |
G |
T |
7: 46,889,624 (GRCm38) |
D389E |
probably benign |
Het |
| Ubn1 |
T |
C |
16: 5,064,542 (GRCm38) |
L46P |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 37,997,175 (GRCm38) |
I1745V |
possibly damaging |
Het |
| Usp20 |
T |
C |
2: 31,011,785 (GRCm38) |
Y521H |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,843,594 (GRCm38) |
H4Q |
probably null |
Het |
| Vmn2r27 |
T |
A |
6: 124,200,532 (GRCm38) |
E504D |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,179,585 (GRCm38) |
I612F |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,357,727 (GRCm38) |
H317R |
possibly damaging |
Het |
| Zfp507 |
T |
C |
7: 35,794,890 (GRCm38) |
S243G |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,406,247 (GRCm38) |
W73R |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,925,839 (GRCm38) |
D90E |
probably damaging |
Het |
|
| Other mutations in Eml5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Eml5
|
APN |
12 |
98,873,209 (GRCm38) |
splice site |
probably benign |
|
|
IGL00473:Eml5
|
APN |
12 |
98,805,492 (GRCm38) |
splice site |
probably benign |
|
|
IGL01120:Eml5
|
APN |
12 |
98,844,019 (GRCm38) |
missense |
probably benign |
|
|
IGL01308:Eml5
|
APN |
12 |
98,802,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01790:Eml5
|
APN |
12 |
98,798,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01973:Eml5
|
APN |
12 |
98,863,280 (GRCm38) |
missense |
probably benign |
|
|
IGL02182:Eml5
|
APN |
12 |
98,802,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02201:Eml5
|
APN |
12 |
98,794,424 (GRCm38) |
splice site |
probably benign |
|
|
IGL02375:Eml5
|
APN |
12 |
98,844,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02397:Eml5
|
APN |
12 |
98,790,674 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02480:Eml5
|
APN |
12 |
98,876,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02801:Eml5
|
APN |
12 |
98,817,845 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02876:Eml5
|
APN |
12 |
98,858,841 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03104:Eml5
|
APN |
12 |
98,861,245 (GRCm38) |
nonsense |
probably null |
|
|
IGL03158:Eml5
|
APN |
12 |
98,827,514 (GRCm38) |
splice site |
probably benign |
|
|
IGL03286:Eml5
|
APN |
12 |
98,860,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03380:Eml5
|
APN |
12 |
98,874,647 (GRCm38) |
splice site |
probably benign |
|
|
BB010:Eml5
|
UTSW |
12 |
98,844,020 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
BB020:Eml5
|
UTSW |
12 |
98,844,020 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0573:Eml5
|
UTSW |
12 |
98,824,772 (GRCm38) |
splice site |
probably null |
|
|
R0624:Eml5
|
UTSW |
12 |
98,865,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0993:Eml5
|
UTSW |
12 |
98,861,183 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1073:Eml5
|
UTSW |
12 |
98,830,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1352:Eml5
|
UTSW |
12 |
98,831,003 (GRCm38) |
splice site |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,858,823 (GRCm38) |
missense |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,858,823 (GRCm38) |
missense |
probably benign |
|
|
R1503:Eml5
|
UTSW |
12 |
98,831,174 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1538:Eml5
|
UTSW |
12 |
98,794,276 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1689:Eml5
|
UTSW |
12 |
98,830,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1773:Eml5
|
UTSW |
12 |
98,798,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1775:Eml5
|
UTSW |
12 |
98,852,704 (GRCm38) |
splice site |
probably null |
|
|
R1791:Eml5
|
UTSW |
12 |
98,887,056 (GRCm38) |
missense |
probably benign |
0.31 |
|
R1856:Eml5
|
UTSW |
12 |
98,810,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1919:Eml5
|
UTSW |
12 |
98,798,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1957:Eml5
|
UTSW |
12 |
98,859,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1962:Eml5
|
UTSW |
12 |
98,876,311 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2033:Eml5
|
UTSW |
12 |
98,791,386 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2035:Eml5
|
UTSW |
12 |
98,794,266 (GRCm38) |
missense |
probably benign |
0.33 |
|
R2073:Eml5
|
UTSW |
12 |
98,802,446 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2143:Eml5
|
UTSW |
12 |
98,810,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2144:Eml5
|
UTSW |
12 |
98,810,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2158:Eml5
|
UTSW |
12 |
98,843,946 (GRCm38) |
splice site |
probably benign |
|
|
R2164:Eml5
|
UTSW |
12 |
98,887,097 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2175:Eml5
|
UTSW |
12 |
98,876,223 (GRCm38) |
nonsense |
probably null |
|
|
R2200:Eml5
|
UTSW |
12 |
98,825,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2234:Eml5
|
UTSW |
12 |
98,841,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2504:Eml5
|
UTSW |
12 |
98,844,105 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2871:Eml5
|
UTSW |
12 |
98,865,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2871:Eml5
|
UTSW |
12 |
98,865,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2958:Eml5
|
UTSW |
12 |
98,876,178 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3013:Eml5
|
UTSW |
12 |
98,880,808 (GRCm38) |
splice site |
probably null |
|
|
R3118:Eml5
|
UTSW |
12 |
98,865,494 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3735:Eml5
|
UTSW |
12 |
98,855,989 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R3856:Eml5
|
UTSW |
12 |
98,816,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3900:Eml5
|
UTSW |
12 |
98,825,523 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3973:Eml5
|
UTSW |
12 |
98,802,465 (GRCm38) |
splice site |
probably benign |
|
|
R3976:Eml5
|
UTSW |
12 |
98,802,465 (GRCm38) |
splice site |
probably benign |
|
|
R4105:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4107:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4108:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4109:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4258:Eml5
|
UTSW |
12 |
98,865,434 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4381:Eml5
|
UTSW |
12 |
98,815,955 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4590:Eml5
|
UTSW |
12 |
98,837,341 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4737:Eml5
|
UTSW |
12 |
98,798,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4775:Eml5
|
UTSW |
12 |
98,802,307 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4850:Eml5
|
UTSW |
12 |
98,790,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5007:Eml5
|
UTSW |
12 |
98,830,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5092:Eml5
|
UTSW |
12 |
98,792,616 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5123:Eml5
|
UTSW |
12 |
98,874,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5124:Eml5
|
UTSW |
12 |
98,792,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5273:Eml5
|
UTSW |
12 |
98,790,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5369:Eml5
|
UTSW |
12 |
98,858,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5430:Eml5
|
UTSW |
12 |
98,794,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5748:Eml5
|
UTSW |
12 |
98,825,555 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5769:Eml5
|
UTSW |
12 |
98,790,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5832:Eml5
|
UTSW |
12 |
98,876,188 (GRCm38) |
missense |
probably benign |
|
|
R6113:Eml5
|
UTSW |
12 |
98,824,674 (GRCm38) |
nonsense |
probably null |
|
|
R6131:Eml5
|
UTSW |
12 |
98,861,251 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6175:Eml5
|
UTSW |
12 |
98,794,456 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6184:Eml5
|
UTSW |
12 |
98,863,129 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6357:Eml5
|
UTSW |
12 |
98,870,884 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6375:Eml5
|
UTSW |
12 |
98,798,868 (GRCm38) |
|
|
|
|
R6528:Eml5
|
UTSW |
12 |
98,824,637 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6657:Eml5
|
UTSW |
12 |
98,791,405 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6717:Eml5
|
UTSW |
12 |
98,827,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6751:Eml5
|
UTSW |
12 |
98,865,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6833:Eml5
|
UTSW |
12 |
98,887,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6834:Eml5
|
UTSW |
12 |
98,887,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6972:Eml5
|
UTSW |
12 |
98,876,180 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7091:Eml5
|
UTSW |
12 |
98,802,474 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7353:Eml5
|
UTSW |
12 |
98,825,424 (GRCm38) |
missense |
|
|
|
R7644:Eml5
|
UTSW |
12 |
98,855,944 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7694:Eml5
|
UTSW |
12 |
98,792,563 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7842:Eml5
|
UTSW |
12 |
98,794,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7933:Eml5
|
UTSW |
12 |
98,844,020 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8111:Eml5
|
UTSW |
12 |
98,792,514 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8198:Eml5
|
UTSW |
12 |
98,858,886 (GRCm38) |
nonsense |
probably null |
|
|
R8482:Eml5
|
UTSW |
12 |
98,876,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8732:Eml5
|
UTSW |
12 |
98,815,959 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8956:Eml5
|
UTSW |
12 |
98,852,693 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8975:Eml5
|
UTSW |
12 |
98,810,570 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9131:Eml5
|
UTSW |
12 |
98,858,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9258:Eml5
|
UTSW |
12 |
98,844,117 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9261:Eml5
|
UTSW |
12 |
98,856,028 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9276:Eml5
|
UTSW |
12 |
98,798,801 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9301:Eml5
|
UTSW |
12 |
98,882,033 (GRCm38) |
nonsense |
probably null |
|
|
R9368:Eml5
|
UTSW |
12 |
98,796,578 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9392:Eml5
|
UTSW |
12 |
98,900,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9393:Eml5
|
UTSW |
12 |
98,876,174 (GRCm38) |
missense |
probably benign |
0.35 |
|
R9449:Eml5
|
UTSW |
12 |
98,861,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9570:Eml5
|
UTSW |
12 |
98,815,984 (GRCm38) |
missense |
probably benign |
0.15 |
|
T0722:Eml5
|
UTSW |
12 |
98,841,582 (GRCm38) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACACACAGGCACAGGTGACA -3'
(R):5'- AGGTTTTGCATCCTCATGATGACACA -3'
Sequencing Primer
(F):5'- tgtaaatcaaacctgctagaatcc -3'
(R):5'- GCATCCTCATGATGACACATACAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation