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: 0.225)
|
| Stock # |
R1775 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
98786805-98901484 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 98852704 bp (GRCm38)
|
| 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: 11,222,142 (GRCm38) |
S20P |
unknown |
Het |
| 4921528I07Rik |
G |
A |
9: 114,279,318 (GRCm38) |
|
noncoding transcript |
Het |
| 4930562C15Rik |
G |
A |
16: 4,851,558 (GRCm38) |
|
probably null |
Het |
| 4933427I04Rik |
A |
G |
4: 123,860,493 (GRCm38) |
T67A |
possibly damaging |
Het |
| Abcc2 |
A |
T |
19: 43,798,419 (GRCm38) |
N160Y |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,300,422 (GRCm38) |
D155G |
possibly damaging |
Het |
| Afg3l1 |
G |
A |
8: 123,492,900 (GRCm38) |
R389Q |
possibly damaging |
Het |
| Ank2 |
G |
A |
3: 126,934,547 (GRCm38) |
T799M |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,488,081 (GRCm38) |
Y202H |
possibly damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,373,743 (GRCm38) |
T771A |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,372,589 (GRCm38) |
V182A |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,612,286 (GRCm38) |
L210S |
probably damaging |
Het |
| Car3 |
A |
G |
3: 14,864,432 (GRCm38) |
T73A |
probably benign |
Het |
| Cd5l |
T |
C |
3: 87,368,659 (GRCm38) |
L312P |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,467,304 (GRCm38) |
|
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,496,810 (GRCm38) |
V257E |
probably damaging |
Het |
| Cntrob |
T |
C |
11: 69,320,867 (GRCm38) |
D177G |
possibly damaging |
Het |
| Copg2 |
A |
T |
6: 30,810,336 (GRCm38) |
F658I |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,899,739 (GRCm38) |
T1234A |
probably damaging |
Het |
| Dhx35 |
A |
G |
2: 158,806,437 (GRCm38) |
T72A |
probably damaging |
Het |
| Dmrtc2 |
A |
T |
7: 24,874,367 (GRCm38) |
H209L |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,223,660 (GRCm38) |
E1068G |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,576,660 (GRCm38) |
M41T |
probably damaging |
Het |
| Fmo3 |
A |
G |
1: 162,968,725 (GRCm38) |
S93P |
possibly damaging |
Het |
| Gdi2 |
A |
G |
13: 3,560,018 (GRCm38) |
Y213C |
possibly damaging |
Het |
| Gpr15 |
A |
T |
16: 58,718,558 (GRCm38) |
I56K |
probably benign |
Het |
| Gria2 |
G |
T |
3: 80,691,338 (GRCm38) |
S796R |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,291,191 (GRCm38) |
|
probably benign |
Het |
| Hgfac |
T |
C |
5: 35,042,850 (GRCm38) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,520,156 (GRCm38) |
R1200W |
probably damaging |
Het |
| Ift52 |
G |
A |
2: 163,025,355 (GRCm38) |
D78N |
possibly damaging |
Het |
| Iqca |
C |
A |
1: 90,081,416 (GRCm38) |
W415L |
probably damaging |
Het |
| Ism1 |
A |
T |
2: 139,746,043 (GRCm38) |
K236N |
probably damaging |
Het |
| Itgb6 |
C |
T |
2: 60,672,644 (GRCm38) |
W43* |
probably null |
Het |
| Kcnk18 |
T |
A |
19: 59,235,341 (GRCm38) |
I306N |
probably damaging |
Het |
| Kctd8 |
T |
C |
5: 69,340,560 (GRCm38) |
K248E |
probably damaging |
Het |
| Layn |
T |
A |
9: 51,059,533 (GRCm38) |
I237F |
probably benign |
Het |
| Lce3f |
C |
T |
3: 92,992,941 (GRCm38) |
P23L |
unknown |
Het |
| Lct |
A |
G |
1: 128,300,301 (GRCm38) |
F1152L |
probably damaging |
Het |
| Mxra8 |
T |
C |
4: 155,843,074 (GRCm38) |
I413T |
probably damaging |
Het |
| Nedd9 |
A |
G |
13: 41,317,962 (GRCm38) |
V187A |
probably benign |
Het |
| Net1 |
A |
G |
13: 3,887,642 (GRCm38) |
L207P |
probably damaging |
Het |
| Neurod1 |
G |
T |
2: 79,454,437 (GRCm38) |
P201T |
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,161,821 (GRCm38) |
F927S |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,356,041 (GRCm38) |
H524L |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 102,134,937 (GRCm38) |
S1063A |
probably benign |
Het |
| Olfr1036 |
G |
A |
2: 86,074,760 (GRCm38) |
V7I |
possibly damaging |
Het |
| Olfr1333 |
T |
A |
4: 118,829,868 (GRCm38) |
M191L |
probably benign |
Het |
| Olfr1447 |
C |
A |
19: 12,901,235 (GRCm38) |
V182F |
probably benign |
Het |
| Olfr215 |
T |
C |
6: 116,582,964 (GRCm38) |
|
probably benign |
Het |
| Olfr657 |
G |
A |
7: 104,636,159 (GRCm38) |
V162I |
probably benign |
Het |
| Olfr747 |
G |
T |
14: 50,681,166 (GRCm38) |
P156Q |
possibly damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,592,460 (GRCm38) |
R33W |
probably damaging |
Het |
| Phf21a |
G |
A |
2: 92,330,515 (GRCm38) |
V243I |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,893,348 (GRCm38) |
|
probably null |
Het |
| Rexo5 |
T |
C |
7: 119,845,411 (GRCm38) |
V703A |
probably benign |
Het |
| Rgs4 |
A |
G |
1: 169,745,278 (GRCm38) |
S30P |
probably benign |
Het |
| Rrnad1 |
A |
G |
3: 87,923,817 (GRCm38) |
S404P |
probably damaging |
Het |
| Rxra |
C |
A |
2: 27,756,244 (GRCm38) |
D340E |
probably damaging |
Het |
| Samhd1 |
A |
G |
2: 157,107,547 (GRCm38) |
V473A |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,472,342 (GRCm38) |
K1253N |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,680,955 (GRCm38) |
N1207S |
probably benign |
Het |
| Sec24d |
T |
A |
3: 123,336,517 (GRCm38) |
I443N |
probably damaging |
Het |
| Sema4g |
T |
A |
19: 44,999,242 (GRCm38) |
|
probably null |
Het |
| Sema5b |
A |
G |
16: 35,660,324 (GRCm38) |
K787R |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,989,647 (GRCm38) |
N104D |
probably benign |
Het |
| Sfn |
T |
C |
4: 133,601,231 (GRCm38) |
H180R |
probably damaging |
Het |
| Slc22a6 |
G |
T |
19: 8,619,107 (GRCm38) |
|
probably null |
Het |
| Slc9a8 |
T |
C |
2: 167,457,358 (GRCm38) |
S217P |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,309,269 (GRCm38) |
N965D |
probably benign |
Het |
| Sod2 |
T |
A |
17: 13,015,032 (GRCm38) |
I177N |
probably damaging |
Het |
| Sp4 |
A |
T |
12: 118,299,600 (GRCm38) |
I237K |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 166,079,612 (GRCm38) |
K697R |
probably benign |
Het |
| Svs4 |
A |
T |
2: 164,277,085 (GRCm38) |
D110E |
unknown |
Het |
| Tas1r1 |
T |
A |
4: 152,038,218 (GRCm38) |
R57* |
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,973,722 (GRCm38) |
I197T |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,612,532 (GRCm38) |
V606A |
probably benign |
Het |
| Tmem241 |
T |
A |
18: 12,118,412 (GRCm38) |
L37F |
probably damaging |
Het |
| Tmem59l |
A |
T |
8: 70,486,253 (GRCm38) |
N90K |
probably damaging |
Het |
| Tram1 |
A |
C |
1: 13,576,456 (GRCm38) |
|
probably benign |
Het |
| Trim15 |
T |
A |
17: 36,865,169 (GRCm38) |
H162L |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,276,811 (GRCm38) |
Y1501N |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,862,214 (GRCm38) |
V857A |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,139,046 (GRCm38) |
T48A |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,368,089 (GRCm38) |
E939G |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,770,808 (GRCm38) |
I1634T |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,738,170 (GRCm38) |
M729V |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,881,447 (GRCm38) |
T334M |
probably damaging |
Het |
| Wnk4 |
C |
G |
11: 101,276,340 (GRCm38) |
|
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,271,193 (GRCm38) |
N97D |
probably benign |
Het |
| Xpo4 |
A |
T |
14: 57,603,672 (GRCm38) |
F518Y |
probably benign |
Het |
| Zfp668 |
C |
T |
7: 127,866,606 (GRCm38) |
V469I |
possibly damaging |
Het |
| Zfp85 |
C |
A |
13: 67,749,704 (GRCm38) |
C83F |
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 |
|
R1183:Eml5
|
UTSW |
12 |
98,792,046 (GRCm38) |
missense |
probably benign |
0.31 |
|
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 |
|
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'- GCATTTAACCATGCTTCCCAG -3'
(R):5'- GCAGAGTATCCACCACCTTTG -3'
Sequencing Primer
(F):5'- GCTTCCCAGCTGGTATATAACAG -3'
(R):5'- TGTCCCCTCACACCAGATC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation