Incidental Mutation 'R1957:Eml5'
| ID |
217955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
039971-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R1957 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
98753064-98867743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98826220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 644
(H644Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065716]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065716
AA Change: H644Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: H644Q
| 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 damaging
Transcript: ENSMUST00000223282
AA Change: H683Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
97% (117/121) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 114 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,247,068 (GRCm39) |
|
probably benign |
Het |
| Aadacl4fm5 |
G |
A |
4: 144,504,389 (GRCm39) |
T254I |
possibly damaging |
Het |
| Abce1 |
A |
G |
8: 80,412,578 (GRCm39) |
I583T |
probably benign |
Het |
| Abtb3 |
T |
C |
10: 85,469,563 (GRCm39) |
L828P |
probably damaging |
Het |
| Adcy1 |
A |
T |
11: 7,111,945 (GRCm39) |
T937S |
probably benign |
Het |
| Adgra2 |
A |
G |
8: 27,601,196 (GRCm39) |
I279V |
possibly damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,216,416 (GRCm39) |
N533I |
possibly damaging |
Het |
| Adipor1 |
T |
C |
1: 134,350,771 (GRCm39) |
S7P |
probably benign |
Het |
| Amelx |
A |
T |
X: 167,965,153 (GRCm39) |
|
probably null |
Het |
| Anks1b |
A |
T |
10: 89,885,792 (GRCm39) |
T163S |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,450,388 (GRCm39) |
E2394G |
probably damaging |
Het |
| Arhgef39 |
C |
T |
4: 43,499,309 (GRCm39) |
G56E |
probably damaging |
Het |
| Arnt |
C |
T |
3: 95,355,704 (GRCm39) |
S16L |
possibly damaging |
Het |
| Arsj |
A |
G |
3: 126,232,670 (GRCm39) |
N472S |
probably benign |
Het |
| Atg2b |
T |
C |
12: 105,635,677 (GRCm39) |
Y197C |
probably damaging |
Het |
| B3gat1 |
A |
T |
9: 26,667,248 (GRCm39) |
D160V |
possibly damaging |
Het |
| Bmp7 |
T |
C |
2: 172,781,714 (GRCm39) |
E50G |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,369,939 (GRCm39) |
E869G |
probably damaging |
Het |
| Brd4 |
G |
A |
17: 32,440,340 (GRCm39) |
P332L |
possibly damaging |
Het |
| C130074G19Rik |
T |
C |
1: 184,615,095 (GRCm39) |
T32A |
probably benign |
Het |
| C1rl |
A |
T |
6: 124,486,021 (GRCm39) |
Y464F |
probably damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,303,068 (GRCm39) |
M193K |
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,706,616 (GRCm39) |
S338P |
probably damaging |
Het |
| Cenpu |
T |
C |
8: 47,025,872 (GRCm39) |
|
probably benign |
Het |
| Cep170 |
A |
C |
1: 176,597,013 (GRCm39) |
V448G |
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,196,031 (GRCm39) |
A879S |
probably benign |
Het |
| Crtac1 |
C |
T |
19: 42,276,383 (GRCm39) |
S515N |
possibly damaging |
Het |
| Cstad |
G |
A |
2: 30,498,293 (GRCm39) |
V43M |
unknown |
Het |
| Daam1 |
T |
C |
12: 72,029,529 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
C |
T |
9: 20,838,442 (GRCm39) |
R207H |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,655,162 (GRCm39) |
N153S |
probably damaging |
Het |
| Dzip3 |
C |
A |
16: 48,747,956 (GRCm39) |
L1151F |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,297,027 (GRCm39) |
L52P |
probably damaging |
Het |
| Eno1 |
T |
A |
4: 150,331,232 (GRCm39) |
|
probably null |
Het |
| Epha3 |
T |
A |
16: 63,593,315 (GRCm39) |
T258S |
probably benign |
Het |
| Ern1 |
T |
C |
11: 106,317,723 (GRCm39) |
T134A |
probably damaging |
Het |
| Fam151b |
G |
T |
13: 92,614,410 (GRCm39) |
T26K |
probably damaging |
Het |
| Fam151b |
T |
A |
13: 92,614,411 (GRCm39) |
T26S |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,493,719 (GRCm39) |
V3955A |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,209,574 (GRCm39) |
N930S |
possibly damaging |
Het |
| Fgr |
A |
G |
4: 132,725,673 (GRCm39) |
M361V |
probably benign |
Het |
| Fmo4 |
G |
A |
1: 162,631,259 (GRCm39) |
T236I |
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,790,825 (GRCm39) |
T67I |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,534,766 (GRCm39) |
T216A |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm42669 |
A |
T |
5: 107,656,738 (GRCm39) |
E355D |
possibly damaging |
Het |
| Gm5174 |
A |
T |
10: 86,492,617 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5431 |
A |
T |
11: 48,779,224 (GRCm39) |
L844* |
probably null |
Het |
| Gm6489 |
T |
C |
1: 31,326,452 (GRCm39) |
|
noncoding transcript |
Het |
| Gna11 |
A |
G |
10: 81,366,678 (GRCm39) |
V344A |
probably damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,099 (GRCm39) |
E170G |
probably damaging |
Het |
| H2az1 |
A |
C |
3: 137,571,275 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
A |
G |
13: 12,411,419 (GRCm39) |
N87D |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,027,868 (GRCm39) |
K687E |
possibly damaging |
Het |
| Ica1 |
T |
C |
6: 8,749,736 (GRCm39) |
D71G |
possibly damaging |
Het |
| Ifnlr1 |
T |
C |
4: 135,413,881 (GRCm39) |
L10P |
probably damaging |
Het |
| Il1r1 |
T |
A |
1: 40,352,300 (GRCm39) |
L490* |
probably null |
Het |
| Ip6k3 |
A |
T |
17: 27,370,142 (GRCm39) |
L92Q |
probably benign |
Het |
| Itgbl1 |
T |
A |
14: 124,204,090 (GRCm39) |
F394I |
probably damaging |
Het |
| Kat6b |
T |
C |
14: 21,678,947 (GRCm39) |
Y437H |
probably damaging |
Het |
| Kcnh5 |
G |
C |
12: 74,944,358 (GRCm39) |
Q964E |
probably benign |
Het |
| Krt27 |
A |
T |
11: 99,237,309 (GRCm39) |
|
probably null |
Het |
| Mki67 |
A |
T |
7: 135,300,128 (GRCm39) |
D1635E |
probably benign |
Het |
| Mmp23 |
G |
T |
4: 155,736,509 (GRCm39) |
H177Q |
possibly damaging |
Het |
| Myef2l |
G |
T |
3: 10,154,346 (GRCm39) |
V372F |
probably benign |
Het |
| Mylk2 |
C |
A |
2: 152,759,527 (GRCm39) |
Q406K |
possibly damaging |
Het |
| Myo1g |
A |
G |
11: 6,462,159 (GRCm39) |
|
probably null |
Het |
| Myrf |
T |
C |
19: 10,197,160 (GRCm39) |
T261A |
probably benign |
Het |
| Nmt2 |
C |
T |
2: 3,326,419 (GRCm39) |
P486L |
possibly damaging |
Het |
| Oard1 |
T |
A |
17: 48,722,304 (GRCm39) |
L100* |
probably null |
Het |
| Oca2 |
T |
C |
7: 55,971,246 (GRCm39) |
I391T |
possibly damaging |
Het |
| Or51v14 |
T |
A |
7: 103,260,618 (GRCm39) |
*314L |
probably null |
Het |
| Or5k17 |
T |
A |
16: 58,746,530 (GRCm39) |
M135L |
probably benign |
Het |
| Or5p64 |
A |
C |
7: 107,854,403 (GRCm39) |
L314* |
probably null |
Het |
| Or6c68 |
A |
T |
10: 129,157,740 (GRCm39) |
I83F |
possibly damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,419 (GRCm39) |
C96S |
probably damaging |
Het |
| Or9k2b |
C |
A |
10: 130,015,847 (GRCm39) |
A301S |
possibly damaging |
Het |
| Pabpc4 |
T |
A |
4: 123,180,658 (GRCm39) |
S127T |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,398,760 (GRCm39) |
D237G |
probably damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,537,090 (GRCm39) |
Y29C |
probably damaging |
Het |
| Phf3 |
C |
A |
1: 30,870,601 (GRCm39) |
R95L |
probably damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,757,421 (GRCm39) |
V1539D |
probably damaging |
Het |
| Plxna1 |
A |
T |
6: 89,308,273 (GRCm39) |
D1271E |
probably damaging |
Het |
| Ppp3r2 |
A |
G |
4: 49,681,726 (GRCm39) |
F75L |
probably damaging |
Het |
| Pth2r |
C |
A |
1: 65,411,514 (GRCm39) |
D350E |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,373,774 (GRCm39) |
F262S |
possibly damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,589,511 (GRCm39) |
S438P |
probably benign |
Het |
| Rexo1 |
G |
A |
10: 80,379,200 (GRCm39) |
R1038C |
probably damaging |
Het |
| Rnf10 |
A |
G |
5: 115,398,381 (GRCm39) |
|
probably benign |
Het |
| Scyl1 |
C |
A |
19: 5,810,132 (GRCm39) |
A565S |
probably benign |
Het |
| Septin4 |
A |
G |
11: 87,481,193 (GRCm39) |
T378A |
probably benign |
Het |
| Sh3yl1 |
A |
G |
12: 30,992,787 (GRCm39) |
|
probably null |
Het |
| Slc1a7 |
G |
T |
4: 107,825,782 (GRCm39) |
D14Y |
probably benign |
Het |
| Slc32a1 |
T |
C |
2: 158,455,963 (GRCm39) |
V206A |
probably damaging |
Het |
| Smyd5 |
G |
A |
6: 85,415,121 (GRCm39) |
R43Q |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,058,095 (GRCm39) |
A286T |
possibly damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,079,155 (GRCm39) |
H794Q |
probably benign |
Het |
| Ssbp2 |
T |
C |
13: 91,812,303 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,455,207 (GRCm39) |
G3023D |
probably damaging |
Het |
| St6galnac5 |
T |
A |
3: 152,552,120 (GRCm39) |
Q149L |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,697,334 (GRCm39) |
Y1985H |
probably benign |
Het |
| Suz12 |
A |
G |
11: 79,889,926 (GRCm39) |
M146V |
probably benign |
Het |
| Tac2 |
A |
G |
10: 127,564,349 (GRCm39) |
|
probably null |
Het |
| Thbd |
T |
C |
2: 148,248,899 (GRCm39) |
E323G |
probably damaging |
Het |
| Tnfrsf26 |
T |
A |
7: 143,171,660 (GRCm39) |
T98S |
probably damaging |
Het |
| Trim15 |
T |
C |
17: 37,173,215 (GRCm39) |
|
probably benign |
Het |
| Trpt1 |
T |
C |
19: 6,975,561 (GRCm39) |
V105A |
possibly damaging |
Het |
| Vcam1 |
T |
C |
3: 115,919,606 (GRCm39) |
Y226C |
probably damaging |
Het |
| Vmn1r175 |
A |
G |
7: 23,507,808 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,784,969 (GRCm39) |
V17A |
probably benign |
Het |
| Vmn2r84 |
G |
A |
10: 130,226,677 (GRCm39) |
A387V |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,693,641 (GRCm39) |
L2728Q |
probably damaging |
Het |
| Zfp934 |
T |
A |
13: 62,666,108 (GRCm39) |
T178S |
possibly 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 |
|
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 |
|
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'- GCTAAGAATAGAAACTTGTTGCTGC -3'
(R):5'- TTCCTCATGACTCATAGAAAGCTC -3'
Sequencing Primer
(F):5'- CATAGCTGAAATGTGAGGCCTATAC -3'
(R):5'- TGACTCATAGAAAGCTCTCAGAG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation