Incidental Mutation 'R1775:Eml5'
| ID |
204355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
039806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R1775 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
98753064-98867743 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 98818963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065716]
[ENSMUST00000065716]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065716
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
| 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 null
Transcript: ENSMUST00000065716
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
| 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 null
Transcript: ENSMUST00000223282
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (95/97) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J04Rik |
A |
G |
12: 11,272,143 (GRCm39) |
S20P |
unknown |
Het |
| 4921528I07Rik |
G |
A |
9: 114,108,386 (GRCm39) |
|
noncoding transcript |
Het |
| 4930562C15Rik |
G |
A |
16: 4,669,422 (GRCm39) |
|
probably null |
Het |
| 4933427I04Rik |
A |
G |
4: 123,754,286 (GRCm39) |
T67A |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,786,858 (GRCm39) |
N160Y |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,191,248 (GRCm39) |
D155G |
possibly damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,219,639 (GRCm39) |
R389Q |
possibly damaging |
Het |
| Ank2 |
G |
A |
3: 126,728,196 (GRCm39) |
T799M |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,395,363 (GRCm39) |
Y202H |
possibly damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,681,172 (GRCm39) |
T771A |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,610,046 (GRCm39) |
V182A |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,919,281 (GRCm39) |
L210S |
probably damaging |
Het |
| Car3 |
A |
G |
3: 14,929,492 (GRCm39) |
T73A |
probably benign |
Het |
| Cd5l |
T |
C |
3: 87,275,966 (GRCm39) |
L312P |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,303,138 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,332,672 (GRCm39) |
V257E |
probably damaging |
Het |
| Cntrob |
T |
C |
11: 69,211,693 (GRCm39) |
D177G |
possibly damaging |
Het |
| Copg2 |
A |
T |
6: 30,787,271 (GRCm39) |
F658I |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,763,135 (GRCm39) |
T1234A |
probably damaging |
Het |
| Dhx35 |
A |
G |
2: 158,648,357 (GRCm39) |
T72A |
probably damaging |
Het |
| Dmrtc2 |
A |
T |
7: 24,573,792 (GRCm39) |
H209L |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,114,486 (GRCm39) |
E1068G |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,553,594 (GRCm39) |
M41T |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,796,294 (GRCm39) |
S93P |
possibly damaging |
Het |
| Gdi2 |
A |
G |
13: 3,610,018 (GRCm39) |
Y213C |
possibly damaging |
Het |
| Gpr15 |
A |
T |
16: 58,538,921 (GRCm39) |
I56K |
probably benign |
Het |
| Gria2 |
G |
T |
3: 80,598,645 (GRCm39) |
S796R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,429,254 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
T |
C |
5: 35,200,194 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,247,467 (GRCm39) |
R1200W |
probably damaging |
Het |
| Ift52 |
G |
A |
2: 162,867,275 (GRCm39) |
D78N |
possibly damaging |
Het |
| Iqca1 |
C |
A |
1: 90,009,138 (GRCm39) |
W415L |
probably damaging |
Het |
| Ism1 |
A |
T |
2: 139,587,963 (GRCm39) |
K236N |
probably damaging |
Het |
| Itgb6 |
C |
T |
2: 60,502,988 (GRCm39) |
W43* |
probably null |
Het |
| Kcnk18 |
T |
A |
19: 59,223,773 (GRCm39) |
I306N |
probably damaging |
Het |
| Kctd8 |
T |
C |
5: 69,497,903 (GRCm39) |
K248E |
probably damaging |
Het |
| Layn |
T |
A |
9: 50,970,833 (GRCm39) |
I237F |
probably benign |
Het |
| Lce3f |
C |
T |
3: 92,900,248 (GRCm39) |
P23L |
unknown |
Het |
| Lct |
A |
G |
1: 128,228,038 (GRCm39) |
F1152L |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,831,124 (GRCm39) |
S404P |
probably damaging |
Het |
| Mxra8 |
T |
C |
4: 155,927,531 (GRCm39) |
I413T |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,471,438 (GRCm39) |
V187A |
probably benign |
Het |
| Net1 |
A |
G |
13: 3,937,642 (GRCm39) |
L207P |
probably damaging |
Het |
| Neurod1 |
G |
T |
2: 79,284,781 (GRCm39) |
P201T |
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,052,647 (GRCm39) |
F927S |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,005,789 (GRCm39) |
H524L |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 101,784,144 (GRCm39) |
S1063A |
probably benign |
Het |
| Or10ak11 |
T |
A |
4: 118,687,065 (GRCm39) |
M191L |
probably benign |
Het |
| Or11h4b |
G |
T |
14: 50,918,623 (GRCm39) |
P156Q |
possibly damaging |
Het |
| Or56b1 |
G |
A |
7: 104,285,366 (GRCm39) |
V162I |
probably benign |
Het |
| Or5b97 |
C |
A |
19: 12,878,599 (GRCm39) |
V182F |
probably benign |
Het |
| Or5m9b |
G |
A |
2: 85,905,104 (GRCm39) |
V7I |
possibly damaging |
Het |
| Or6d15 |
T |
C |
6: 116,559,925 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
G |
A |
15: 12,592,546 (GRCm39) |
R33W |
probably damaging |
Het |
| Phf21a |
G |
A |
2: 92,160,860 (GRCm39) |
V243I |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,821,086 (GRCm39) |
|
probably null |
Het |
| Rexo5 |
T |
C |
7: 119,444,634 (GRCm39) |
V703A |
probably benign |
Het |
| Rgs4 |
A |
G |
1: 169,572,847 (GRCm39) |
S30P |
probably benign |
Het |
| Rxra |
C |
A |
2: 27,646,256 (GRCm39) |
D340E |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 156,949,467 (GRCm39) |
V473A |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,302,686 (GRCm39) |
K1253N |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,511,299 (GRCm39) |
N1207S |
probably benign |
Het |
| Sec24d |
T |
A |
3: 123,130,166 (GRCm39) |
I443N |
probably damaging |
Het |
| Sema4g |
T |
A |
19: 44,987,681 (GRCm39) |
|
probably null |
Het |
| Sema5b |
A |
G |
16: 35,480,694 (GRCm39) |
K787R |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,817,217 (GRCm39) |
N104D |
probably benign |
Het |
| Sfn |
T |
C |
4: 133,328,542 (GRCm39) |
H180R |
probably damaging |
Het |
| Slc22a6 |
G |
T |
19: 8,596,471 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
T |
C |
2: 167,299,278 (GRCm39) |
S217P |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,359,270 (GRCm39) |
N965D |
probably benign |
Het |
| Sod2 |
T |
A |
17: 13,233,919 (GRCm39) |
I177N |
probably damaging |
Het |
| Sp4 |
A |
T |
12: 118,263,335 (GRCm39) |
I237K |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,921,532 (GRCm39) |
K697R |
probably benign |
Het |
| Svs4 |
A |
T |
2: 164,119,005 (GRCm39) |
D110E |
unknown |
Het |
| Tas1r1 |
T |
A |
4: 152,122,675 (GRCm39) |
R57* |
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,801,287 (GRCm39) |
I197T |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,261,740 (GRCm39) |
V606A |
probably benign |
Het |
| Tmem241 |
T |
A |
18: 12,251,469 (GRCm39) |
L37F |
probably damaging |
Het |
| Tmem59l |
A |
T |
8: 70,938,903 (GRCm39) |
N90K |
probably damaging |
Het |
| Tram1 |
A |
C |
1: 13,646,680 (GRCm39) |
|
probably benign |
Het |
| Trim15 |
T |
A |
17: 37,176,061 (GRCm39) |
H162L |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,424,677 (GRCm39) |
Y1501N |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,946,671 (GRCm39) |
V857A |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,189,321 (GRCm39) |
T48A |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,368,089 (GRCm39) |
E939G |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,606,670 (GRCm39) |
I1634T |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,378 (GRCm39) |
M729V |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,788,729 (GRCm39) |
T334M |
probably damaging |
Het |
| Wnk4 |
C |
G |
11: 101,167,166 (GRCm39) |
|
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,221,193 (GRCm39) |
N97D |
probably benign |
Het |
| Xpo4 |
A |
T |
14: 57,841,129 (GRCm39) |
F518Y |
probably benign |
Het |
| Zfp668 |
C |
T |
7: 127,465,778 (GRCm39) |
V469I |
possibly damaging |
Het |
| Zfp85 |
C |
A |
13: 67,897,823 (GRCm39) |
C83F |
probably damaging |
Het |
|
| Other mutations in Eml5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Eml5
|
APN |
12 |
98,839,468 (GRCm39) |
splice site |
probably benign |
|
|
IGL00473:Eml5
|
APN |
12 |
98,771,751 (GRCm39) |
splice site |
probably benign |
|
|
IGL01120:Eml5
|
APN |
12 |
98,810,278 (GRCm39) |
missense |
probably benign |
|
|
IGL01308:Eml5
|
APN |
12 |
98,768,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01790:Eml5
|
APN |
12 |
98,765,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01973:Eml5
|
APN |
12 |
98,829,539 (GRCm39) |
missense |
probably benign |
|
|
IGL02182:Eml5
|
APN |
12 |
98,768,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02201:Eml5
|
APN |
12 |
98,760,683 (GRCm39) |
splice site |
probably benign |
|
|
IGL02375:Eml5
|
APN |
12 |
98,810,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Eml5
|
APN |
12 |
98,756,933 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02480:Eml5
|
APN |
12 |
98,842,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Eml5
|
APN |
12 |
98,784,104 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02876:Eml5
|
APN |
12 |
98,825,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03104:Eml5
|
APN |
12 |
98,827,504 (GRCm39) |
nonsense |
probably null |
|
|
IGL03158:Eml5
|
APN |
12 |
98,793,773 (GRCm39) |
splice site |
probably benign |
|
|
IGL03286:Eml5
|
APN |
12 |
98,826,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03380:Eml5
|
APN |
12 |
98,840,906 (GRCm39) |
splice site |
probably benign |
|
|
BB010:Eml5
|
UTSW |
12 |
98,810,279 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
BB020:Eml5
|
UTSW |
12 |
98,810,279 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0573:Eml5
|
UTSW |
12 |
98,791,031 (GRCm39) |
splice site |
probably null |
|
|
R0624:Eml5
|
UTSW |
12 |
98,831,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0993:Eml5
|
UTSW |
12 |
98,827,442 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1073:Eml5
|
UTSW |
12 |
98,797,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Eml5
|
UTSW |
12 |
98,758,305 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1352:Eml5
|
UTSW |
12 |
98,797,262 (GRCm39) |
splice site |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,825,082 (GRCm39) |
missense |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,825,082 (GRCm39) |
missense |
probably benign |
|
|
R1503:Eml5
|
UTSW |
12 |
98,797,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1538:Eml5
|
UTSW |
12 |
98,760,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1689:Eml5
|
UTSW |
12 |
98,797,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Eml5
|
UTSW |
12 |
98,765,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Eml5
|
UTSW |
12 |
98,853,315 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1856:Eml5
|
UTSW |
12 |
98,776,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Eml5
|
UTSW |
12 |
98,765,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Eml5
|
UTSW |
12 |
98,826,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Eml5
|
UTSW |
12 |
98,842,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2033:Eml5
|
UTSW |
12 |
98,757,645 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2035:Eml5
|
UTSW |
12 |
98,760,525 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2073:Eml5
|
UTSW |
12 |
98,768,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2143:Eml5
|
UTSW |
12 |
98,776,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Eml5
|
UTSW |
12 |
98,776,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Eml5
|
UTSW |
12 |
98,810,205 (GRCm39) |
splice site |
probably benign |
|
|
R2164:Eml5
|
UTSW |
12 |
98,853,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2175:Eml5
|
UTSW |
12 |
98,842,482 (GRCm39) |
nonsense |
probably null |
|
|
R2200:Eml5
|
UTSW |
12 |
98,791,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Eml5
|
UTSW |
12 |
98,807,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Eml5
|
UTSW |
12 |
98,810,364 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2871:Eml5
|
UTSW |
12 |
98,831,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Eml5
|
UTSW |
12 |
98,831,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2958:Eml5
|
UTSW |
12 |
98,842,437 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3013:Eml5
|
UTSW |
12 |
98,847,067 (GRCm39) |
splice site |
probably null |
|
|
R3118:Eml5
|
UTSW |
12 |
98,831,753 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3735:Eml5
|
UTSW |
12 |
98,822,248 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3856:Eml5
|
UTSW |
12 |
98,782,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3900:Eml5
|
UTSW |
12 |
98,791,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Eml5
|
UTSW |
12 |
98,768,724 (GRCm39) |
splice site |
probably benign |
|
|
R3976:Eml5
|
UTSW |
12 |
98,768,724 (GRCm39) |
splice site |
probably benign |
|
|
R4105:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4107:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4108:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4109:Eml5
|
UTSW |
12 |
98,807,807 (GRCm39) |
splice site |
probably null |
|
|
R4258:Eml5
|
UTSW |
12 |
98,831,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4381:Eml5
|
UTSW |
12 |
98,782,214 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4590:Eml5
|
UTSW |
12 |
98,803,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4737:Eml5
|
UTSW |
12 |
98,765,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4775:Eml5
|
UTSW |
12 |
98,768,566 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4850:Eml5
|
UTSW |
12 |
98,756,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Eml5
|
UTSW |
12 |
98,797,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Eml5
|
UTSW |
12 |
98,758,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:Eml5
|
UTSW |
12 |
98,840,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Eml5
|
UTSW |
12 |
98,758,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Eml5
|
UTSW |
12 |
98,756,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5369:Eml5
|
UTSW |
12 |
98,825,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5430:Eml5
|
UTSW |
12 |
98,760,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5748:Eml5
|
UTSW |
12 |
98,791,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5769:Eml5
|
UTSW |
12 |
98,756,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5832:Eml5
|
UTSW |
12 |
98,842,447 (GRCm39) |
missense |
probably benign |
|
|
R6113:Eml5
|
UTSW |
12 |
98,790,933 (GRCm39) |
nonsense |
probably null |
|
|
R6131:Eml5
|
UTSW |
12 |
98,827,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6175:Eml5
|
UTSW |
12 |
98,760,715 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6184:Eml5
|
UTSW |
12 |
98,829,388 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6357:Eml5
|
UTSW |
12 |
98,837,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6375:Eml5
|
UTSW |
12 |
98,765,127 (GRCm39) |
|
|
|
|
R6528:Eml5
|
UTSW |
12 |
98,790,896 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6657:Eml5
|
UTSW |
12 |
98,757,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6717:Eml5
|
UTSW |
12 |
98,793,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Eml5
|
UTSW |
12 |
98,831,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6833:Eml5
|
UTSW |
12 |
98,853,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Eml5
|
UTSW |
12 |
98,853,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Eml5
|
UTSW |
12 |
98,842,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7091:Eml5
|
UTSW |
12 |
98,768,733 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7353:Eml5
|
UTSW |
12 |
98,791,683 (GRCm39) |
missense |
|
|
|
R7644:Eml5
|
UTSW |
12 |
98,822,203 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7694:Eml5
|
UTSW |
12 |
98,758,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7842:Eml5
|
UTSW |
12 |
98,760,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Eml5
|
UTSW |
12 |
98,810,279 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8111:Eml5
|
UTSW |
12 |
98,758,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8198:Eml5
|
UTSW |
12 |
98,825,145 (GRCm39) |
nonsense |
probably null |
|
|
R8482:Eml5
|
UTSW |
12 |
98,842,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Eml5
|
UTSW |
12 |
98,782,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8956:Eml5
|
UTSW |
12 |
98,818,952 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8975:Eml5
|
UTSW |
12 |
98,776,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9131:Eml5
|
UTSW |
12 |
98,825,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Eml5
|
UTSW |
12 |
98,810,376 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9261:Eml5
|
UTSW |
12 |
98,822,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9276:Eml5
|
UTSW |
12 |
98,765,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9301:Eml5
|
UTSW |
12 |
98,848,292 (GRCm39) |
nonsense |
probably null |
|
|
R9368:Eml5
|
UTSW |
12 |
98,762,837 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9392:Eml5
|
UTSW |
12 |
98,867,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Eml5
|
UTSW |
12 |
98,842,433 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9449:Eml5
|
UTSW |
12 |
98,827,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Eml5
|
UTSW |
12 |
98,782,243 (GRCm39) |
missense |
probably benign |
0.15 |
|
T0722:Eml5
|
UTSW |
12 |
98,807,841 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTTAACCATGCTTCCCAG -3'
(R):5'- GCAGAGTATCCACCACCTTTG -3'
Sequencing Primer
(F):5'- GCTTCCCAGCTGGTATATAACAG -3'
(R):5'- TGTCCCCTCACACCAGATC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation