Incidental Mutation 'R1919:Eml5'
| ID |
212870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
039937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R1919 (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 98798839 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1617
(Y1617C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065716]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065716
AA Change: Y1570C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: Y1570C
| 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 |
noncoding transcript
Transcript: ENSMUST00000220676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221902
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222097
AA Change: T118A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222717
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223282
AA Change: Y1617C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 138,067,270 (GRCm38) |
E740G |
probably damaging |
Het |
| 4930474N05Rik |
G |
T |
14: 36,095,457 (GRCm38) |
V105F |
possibly damaging |
Het |
| 4932438A13Rik |
A |
G |
3: 37,006,983 (GRCm38) |
|
probably null |
Het |
| Actr10 |
A |
G |
12: 70,942,330 (GRCm38) |
I74M |
probably benign |
Het |
| Aen |
T |
C |
7: 78,905,912 (GRCm38) |
Y108H |
probably damaging |
Het |
| Afm |
A |
T |
5: 90,524,920 (GRCm38) |
K205* |
probably null |
Het |
| Ankrd27 |
T |
A |
7: 35,632,985 (GRCm38) |
S846T |
probably benign |
Het |
| Ano3 |
A |
G |
2: 110,885,007 (GRCm38) |
S29P |
probably benign |
Het |
| Apaf1 |
C |
T |
10: 91,077,614 (GRCm38) |
W138* |
probably null |
Het |
| Arfgef1 |
C |
T |
1: 10,199,878 (GRCm38) |
A349T |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,811,140 (GRCm38) |
Q1798R |
probably damaging |
Het |
| Astn1 |
G |
A |
1: 158,509,971 (GRCm38) |
V416I |
probably damaging |
Het |
| Atxn2l |
G |
A |
7: 126,493,168 (GRCm38) |
T70I |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,835,496 (GRCm38) |
P308L |
probably benign |
Het |
| Bspry |
T |
A |
4: 62,494,797 (GRCm38) |
C256S |
probably damaging |
Het |
| C3 |
C |
A |
17: 57,220,135 (GRCm38) |
W771C |
probably damaging |
Het |
| Camkv |
A |
G |
9: 107,947,088 (GRCm38) |
D233G |
possibly damaging |
Het |
| Catsperd |
T |
A |
17: 56,635,548 (GRCm38) |
V109E |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 101,018,917 (GRCm38) |
L162P |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,392,777 (GRCm38) |
T154A |
probably damaging |
Het |
| Clca3a2 |
G |
C |
3: 144,810,696 (GRCm38) |
Q380E |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,822,359 (GRCm38) |
N251S |
possibly damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 105,011,278 (GRCm38) |
V82A |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,363,319 (GRCm38) |
Q194* |
probably null |
Het |
| Daam2 |
T |
C |
17: 49,485,457 (GRCm38) |
E361G |
probably benign |
Het |
| Dcaf17 |
A |
T |
2: 71,078,172 (GRCm38) |
|
probably null |
Het |
| Dnaic1 |
T |
C |
4: 41,570,020 (GRCm38) |
|
probably null |
Het |
| Epb41l4b |
T |
C |
4: 57,040,993 (GRCm38) |
E490G |
probably damaging |
Het |
| Epha7 |
T |
C |
4: 28,963,969 (GRCm38) |
M988T |
possibly damaging |
Het |
| Fancm |
T |
C |
12: 65,105,520 (GRCm38) |
C917R |
possibly damaging |
Het |
| Fnip1 |
C |
T |
11: 54,480,684 (GRCm38) |
T177I |
probably damaging |
Het |
| Gm12169 |
A |
G |
11: 46,528,531 (GRCm38) |
D58G |
possibly damaging |
Het |
| Gm3604 |
G |
T |
13: 62,369,942 (GRCm38) |
H201N |
probably benign |
Het |
| Gnpda1 |
T |
C |
18: 38,333,190 (GRCm38) |
|
probably null |
Het |
| Gpatch8 |
A |
G |
11: 102,508,142 (GRCm38) |
|
probably null |
Het |
| H2-M3 |
T |
C |
17: 37,271,189 (GRCm38) |
Y179H |
possibly damaging |
Het |
| H2-Q10 |
C |
A |
17: 35,470,488 (GRCm38) |
S62R |
probably damaging |
Het |
| Hipk2 |
G |
A |
6: 38,818,984 (GRCm38) |
R117* |
probably null |
Het |
| Hrg |
A |
T |
16: 22,954,457 (GRCm38) |
Q113H |
probably damaging |
Het |
| Kcnj16 |
T |
C |
11: 111,024,953 (GRCm38) |
V147A |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,019,031 (GRCm38) |
I1650V |
possibly damaging |
Het |
| Kmt2a |
C |
T |
9: 44,820,345 (GRCm38) |
|
probably benign |
Het |
| Krt90 |
A |
T |
15: 101,557,230 (GRCm38) |
Y319N |
probably damaging |
Het |
| Lipo4 |
T |
C |
19: 33,499,271 (GRCm38) |
N359S |
possibly damaging |
Het |
| Lrp1b |
G |
T |
2: 41,728,729 (GRCm38) |
T225K |
probably benign |
Het |
| Map1a |
C |
T |
2: 121,307,012 (GRCm38) |
P2532S |
probably damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,397,643 (GRCm38) |
D193G |
probably benign |
Het |
| Mpped2 |
T |
A |
2: 106,867,032 (GRCm38) |
I284N |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 87,985,125 (GRCm38) |
H436R |
probably benign |
Het |
| Mterf3 |
A |
T |
13: 66,930,062 (GRCm38) |
S48T |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,846,031 (GRCm38) |
F414L |
unknown |
Het |
| Mylk4 |
A |
T |
13: 32,724,853 (GRCm38) |
D90E |
probably benign |
Het |
| Nploc4 |
A |
G |
11: 120,404,229 (GRCm38) |
Y420H |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,578 (GRCm38) |
Y344N |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,375,598 (GRCm38) |
T397A |
probably benign |
Het |
| Ntsr2 |
A |
T |
12: 16,654,110 (GRCm38) |
Q204L |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,806,180 (GRCm38) |
Y1036N |
probably damaging |
Het |
| Oacyl |
T |
C |
18: 65,710,547 (GRCm38) |
V105A |
possibly damaging |
Het |
| Olfr791 |
T |
A |
10: 129,527,049 (GRCm38) |
V274D |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,475,117 (GRCm38) |
Q70L |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,624,017 (GRCm38) |
S936P |
probably damaging |
Het |
| Pdzd3 |
T |
C |
9: 44,250,303 (GRCm38) |
D93G |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 85,922,161 (GRCm38) |
E202G |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,314,020 (GRCm38) |
N530S |
probably benign |
Het |
| Pou3f2 |
T |
C |
4: 22,487,119 (GRCm38) |
D338G |
probably damaging |
Het |
| Prss8 |
G |
T |
7: 127,929,858 (GRCm38) |
L9I |
probably benign |
Het |
| Ptpn22 |
G |
A |
3: 103,876,738 (GRCm38) |
|
probably null |
Het |
| Rad54b |
A |
C |
4: 11,601,693 (GRCm38) |
N416T |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,744,114 (GRCm38) |
S200P |
possibly damaging |
Het |
| Rb1 |
T |
A |
14: 73,212,990 (GRCm38) |
K645* |
probably null |
Het |
| Robo2 |
C |
T |
16: 73,899,154 (GRCm38) |
G1367D |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,352,671 (GRCm38) |
V52A |
probably damaging |
Het |
| Samd13 |
T |
C |
3: 146,662,712 (GRCm38) |
T23A |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,699,973 (GRCm38) |
H676R |
probably damaging |
Het |
| Serpinb6b |
A |
G |
13: 32,978,240 (GRCm38) |
I222V |
probably benign |
Het |
| Slc2a8 |
T |
C |
2: 32,980,079 (GRCm38) |
Y150C |
probably damaging |
Het |
| Slc7a6os |
C |
A |
8: 106,210,564 (GRCm38) |
R88L |
probably damaging |
Het |
| Slc8a2 |
A |
G |
7: 16,152,920 (GRCm38) |
I657V |
probably benign |
Het |
| Slit2 |
C |
A |
5: 48,191,016 (GRCm38) |
|
probably benign |
Het |
| Spire2 |
A |
G |
8: 123,363,071 (GRCm38) |
D447G |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,566,675 (GRCm38) |
N237D |
possibly damaging |
Het |
| Stk3 |
G |
A |
15: 35,073,217 (GRCm38) |
T119I |
probably damaging |
Het |
| Suv39h2 |
G |
A |
2: 3,464,316 (GRCm38) |
T334I |
probably damaging |
Het |
| Syt5 |
G |
T |
7: 4,540,279 (GRCm38) |
T327N |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,816,084 (GRCm38) |
D1253G |
possibly damaging |
Het |
| Tnks |
A |
T |
8: 34,875,232 (GRCm38) |
V388D |
probably damaging |
Het |
| Ugt2b1 |
T |
C |
5: 86,926,000 (GRCm38) |
T167A |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,995,842 (GRCm38) |
R236C |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,455,480 (GRCm38) |
D2904G |
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,687,580 (GRCm38) |
S25P |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,713,010 (GRCm38) |
S282P |
possibly damaging |
Het |
| Vps45 |
T |
C |
3: 96,046,440 (GRCm38) |
E200G |
probably benign |
Het |
| Wnt7b |
T |
A |
15: 85,559,080 (GRCm38) |
I41F |
probably damaging |
Het |
| Zmym6 |
T |
A |
4: 127,103,414 (GRCm38) |
N275K |
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 |
|
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 |
|
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'- GAATTCAGAGAATCCAGAGTCTACAC -3'
(R):5'- TTCCACCCACATAGAGGATGAC -3'
Sequencing Primer
(F):5'- TCCAGAGTCTACACAGATAACAATG -3'
(R):5'- ATGACATCTGTGCGAGCTC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation