Incidental Mutation 'R6175:Eml5'
| ID |
487712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
044317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R6175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
98753064-98867743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98760715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1726
(V1726A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065716]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065716
AA Change: V1679A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: V1679A
| 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: ENSMUST00000220848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222593
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223282
AA Change: V1726A
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222717
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (85/88) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,902,448 (GRCm39) |
K623E |
probably damaging |
Het |
| A530064D06Rik |
T |
A |
17: 48,460,016 (GRCm39) |
S227C |
possibly damaging |
Het |
| Adam30 |
A |
T |
3: 98,070,266 (GRCm39) |
I700F |
probably damaging |
Het |
| Adam5 |
A |
T |
8: 25,276,167 (GRCm39) |
M500K |
probably benign |
Het |
| Adgb |
A |
T |
10: 10,274,687 (GRCm39) |
S755T |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,534,124 (GRCm39) |
G5819D |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,763,557 (GRCm39) |
Y17N |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,969,918 (GRCm39) |
M745L |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,872,074 (GRCm39) |
|
probably null |
Het |
| Atg2a |
A |
T |
19: 6,291,759 (GRCm39) |
|
probably benign |
Het |
| AU021092 |
G |
T |
16: 5,038,312 (GRCm39) |
|
probably null |
Het |
| Bbs1 |
A |
T |
19: 4,940,749 (GRCm39) |
L578Q |
probably damaging |
Het |
| Brd9 |
A |
T |
13: 74,108,433 (GRCm39) |
E589D |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,101,442 (GRCm39) |
D108G |
probably benign |
Het |
| Ccdc82 |
A |
G |
9: 13,272,798 (GRCm39) |
D429G |
probably damaging |
Het |
| Cdh22 |
G |
T |
2: 164,988,550 (GRCm39) |
N268K |
probably damaging |
Het |
| Ceacam12 |
G |
A |
7: 17,801,312 (GRCm39) |
G97D |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,291,096 (GRCm39) |
D990G |
probably damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,801,004 (GRCm39) |
T84A |
probably benign |
Het |
| Dnah7a |
G |
A |
1: 53,472,181 (GRCm39) |
P3529S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Efna3 |
GAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGC |
3: 89,230,105 (GRCm39) |
|
probably benign |
Het |
| Ehd2 |
G |
A |
7: 15,697,389 (GRCm39) |
Q4* |
probably null |
Het |
| Esam |
A |
G |
9: 37,439,544 (GRCm39) |
T10A |
probably benign |
Het |
| Fbxl6 |
A |
G |
15: 76,422,633 (GRCm39) |
L95P |
probably benign |
Het |
| Fbxw18 |
T |
A |
9: 109,505,947 (GRCm39) |
L441F |
probably damaging |
Het |
| Fbxw4 |
A |
G |
19: 45,624,766 (GRCm39) |
S73P |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,479 (GRCm39) |
H739L |
unknown |
Het |
| Foxp1 |
G |
A |
6: 98,943,037 (GRCm39) |
T237I |
probably damaging |
Het |
| Greb1 |
A |
T |
12: 16,724,771 (GRCm39) |
I1801N |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hoxa13 |
G |
T |
6: 52,236,908 (GRCm39) |
N281K |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,296,829 (GRCm39) |
T4328A |
probably damaging |
Het |
| Htr2a |
C |
G |
14: 74,882,474 (GRCm39) |
Y153* |
probably null |
Het |
| Iglv1 |
C |
A |
16: 18,903,844 (GRCm39) |
A92S |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,653,152 (GRCm39) |
S759P |
probably damaging |
Het |
| Kctd1 |
G |
T |
18: 15,102,688 (GRCm39) |
S831* |
probably null |
Het |
| Kif20a |
T |
A |
18: 34,761,199 (GRCm39) |
S265T |
probably damaging |
Het |
| Kif22 |
T |
A |
7: 126,630,228 (GRCm39) |
E436V |
possibly damaging |
Het |
| Kif27 |
A |
G |
13: 58,459,051 (GRCm39) |
W927R |
probably damaging |
Het |
| Lcorl |
G |
A |
5: 45,933,832 (GRCm39) |
P66L |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,255,451 (GRCm39) |
L197P |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,762,714 (GRCm39) |
S14P |
unknown |
Het |
| Lnp1 |
A |
G |
16: 56,737,855 (GRCm39) |
S78P |
possibly damaging |
Het |
| Map3k19 |
A |
T |
1: 127,750,569 (GRCm39) |
H927Q |
probably benign |
Het |
| Meiosin |
C |
A |
7: 18,834,814 (GRCm39) |
|
probably benign |
Het |
| Mta3 |
A |
G |
17: 84,099,222 (GRCm39) |
T430A |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,282,875 (GRCm39) |
C627F |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,245,588 (GRCm39) |
D1076G |
probably benign |
Het |
| Nck2 |
T |
A |
1: 43,572,729 (GRCm39) |
M1K |
probably null |
Het |
| Nipal1 |
A |
G |
5: 72,820,898 (GRCm39) |
N131S |
probably damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,077,426 (GRCm39) |
|
probably null |
Het |
| Nr2f2 |
A |
G |
7: 70,007,946 (GRCm39) |
S179P |
probably damaging |
Het |
| Or1j16 |
A |
G |
2: 36,530,063 (GRCm39) |
D4G |
probably benign |
Het |
| Or1j21 |
A |
T |
2: 36,683,980 (GRCm39) |
H244L |
probably damaging |
Het |
| Or9g19 |
A |
T |
2: 85,600,652 (GRCm39) |
N169I |
probably benign |
Het |
| Oxt |
G |
T |
2: 130,418,163 (GRCm39) |
|
probably benign |
Het |
| Pank2 |
T |
A |
2: 131,122,181 (GRCm39) |
Y235* |
probably null |
Het |
| Pear1 |
A |
G |
3: 87,659,440 (GRCm39) |
L798P |
possibly damaging |
Het |
| Pex14 |
T |
C |
4: 149,046,156 (GRCm39) |
H258R |
probably benign |
Het |
| Pmpcb |
A |
G |
5: 21,962,031 (GRCm39) |
I487V |
probably benign |
Het |
| Ppie |
T |
C |
4: 123,031,362 (GRCm39) |
E44G |
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 4,905,639 (GRCm39) |
R65* |
probably null |
Het |
| Ralgapb |
T |
C |
2: 158,288,075 (GRCm39) |
S371P |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 51,977,881 (GRCm39) |
H1455R |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,450,275 (GRCm39) |
T4107K |
possibly damaging |
Het |
| Sec24a |
G |
A |
11: 51,622,718 (GRCm39) |
T386M |
probably damaging |
Het |
| Slc10a4 |
A |
T |
5: 73,169,593 (GRCm39) |
Y207F |
possibly damaging |
Het |
| Slc30a10 |
T |
C |
1: 185,187,508 (GRCm39) |
L83P |
probably damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,840,093 (GRCm39) |
L324* |
probably null |
Het |
| Slc7a9 |
A |
T |
7: 35,165,277 (GRCm39) |
Q474L |
probably damaging |
Het |
| Smc5 |
C |
A |
19: 23,191,534 (GRCm39) |
V875L |
possibly damaging |
Het |
| Snap91 |
T |
C |
9: 86,707,053 (GRCm39) |
R246G |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,203,196 (GRCm39) |
|
probably null |
Het |
| Spink14 |
G |
A |
18: 44,164,938 (GRCm39) |
G85E |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| St13 |
A |
G |
15: 81,283,506 (GRCm39) |
|
probably null |
Het |
| Stk10 |
A |
G |
11: 32,553,761 (GRCm39) |
M593V |
possibly damaging |
Het |
| Tafa1 |
A |
G |
6: 96,092,721 (GRCm39) |
H35R |
probably benign |
Het |
| Tex21 |
C |
A |
12: 76,245,707 (GRCm39) |
A530S |
probably benign |
Het |
| Tln2 |
T |
A |
9: 67,131,363 (GRCm39) |
K1394N |
probably damaging |
Het |
| Trhr2 |
C |
A |
8: 123,084,118 (GRCm39) |
R294L |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,149,708 (GRCm39) |
I2408F |
probably damaging |
Het |
| Wdr24 |
T |
C |
17: 26,045,552 (GRCm39) |
L429P |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,210,039 (GRCm39) |
I139N |
possibly damaging |
Het |
| Zfp111 |
G |
A |
7: 23,897,554 (GRCm39) |
R686C |
unknown |
Het |
| Zfp268 |
A |
T |
4: 145,350,811 (GRCm39) |
|
probably benign |
Het |
| Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
probably benign |
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 |
|
R1775:Eml5
|
UTSW |
12 |
98,818,963 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- TCGGGGCTATAACACACTGTC -3'
(R):5'- TATTTCAGGGCAAGATACTAGTTGG -3'
Sequencing Primer
(F):5'- GAGCAGCGTGTCCCAAATTC -3'
(R):5'- TGGGACAAGGAATTCGGAAATAATTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation