Incidental Mutation 'R1856:Eml5'
ID |
206158 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eml5
|
Ensembl Gene |
ENSMUSG00000051166 |
Gene Name |
echinoderm microtubule associated protein like 5 |
Synonyms |
C130068M19Rik |
MMRRC Submission |
039880-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R1856 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
98753064-98867743 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98776843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1377
(D1377G)
|
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: D1377G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065643 Gene: ENSMUSG00000051166 AA Change: D1377G
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: ENSMUST00000222872
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223282
AA Change: D1424G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 113 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
A |
4: 144,504,453 (GRCm39) |
M233L |
probably benign |
Het |
Abca14 |
T |
G |
7: 119,877,404 (GRCm39) |
F1017L |
probably damaging |
Het |
Abcb11 |
A |
C |
2: 69,076,267 (GRCm39) |
V1147G |
probably damaging |
Het |
Abcc10 |
T |
A |
17: 46,617,529 (GRCm39) |
S1128C |
probably damaging |
Het |
Adam6a |
G |
A |
12: 113,508,923 (GRCm39) |
C432Y |
probably damaging |
Het |
Adamdec1 |
C |
T |
14: 68,808,397 (GRCm39) |
V318M |
probably damaging |
Het |
Ahnak |
C |
A |
19: 8,979,412 (GRCm39) |
S232Y |
possibly damaging |
Het |
Amt |
A |
C |
9: 108,174,361 (GRCm39) |
H42P |
probably damaging |
Het |
Anapc1 |
A |
T |
2: 128,501,708 (GRCm39) |
L778Q |
probably damaging |
Het |
Ankhd1 |
G |
A |
18: 36,777,580 (GRCm39) |
A1588T |
probably benign |
Het |
Anln |
A |
T |
9: 22,264,627 (GRCm39) |
L881Q |
probably damaging |
Het |
Appl1 |
A |
G |
14: 26,649,706 (GRCm39) |
S607P |
probably damaging |
Het |
Arg2 |
G |
T |
12: 79,194,436 (GRCm39) |
V87L |
probably benign |
Het |
Atp13a2 |
C |
T |
4: 140,731,323 (GRCm39) |
P869L |
probably benign |
Het |
Atxn7l1 |
T |
A |
12: 33,408,769 (GRCm39) |
D310E |
probably damaging |
Het |
Cd6 |
A |
T |
19: 10,775,966 (GRCm39) |
D164E |
probably damaging |
Het |
Cdan1 |
C |
A |
2: 120,555,417 (GRCm39) |
V775L |
probably benign |
Het |
Cep164 |
A |
T |
9: 45,687,056 (GRCm39) |
|
probably null |
Het |
Cep41 |
A |
G |
6: 30,661,005 (GRCm39) |
S61P |
probably damaging |
Het |
Clcn7 |
C |
A |
17: 25,379,445 (GRCm39) |
D764E |
probably damaging |
Het |
Cog2 |
G |
A |
8: 125,278,142 (GRCm39) |
G703S |
possibly damaging |
Het |
Cramp1 |
T |
C |
17: 25,187,952 (GRCm39) |
D1214G |
probably damaging |
Het |
Cst7 |
G |
T |
2: 150,419,628 (GRCm39) |
C98F |
probably damaging |
Het |
Ctc1 |
T |
A |
11: 68,925,484 (GRCm39) |
L1007Q |
probably damaging |
Het |
Cyb5r4 |
G |
A |
9: 86,904,262 (GRCm39) |
A11T |
possibly damaging |
Het |
Dcaf8 |
A |
G |
1: 172,003,120 (GRCm39) |
D306G |
probably damaging |
Het |
Defb38 |
T |
A |
8: 19,073,592 (GRCm39) |
K27I |
probably benign |
Het |
Disp3 |
T |
C |
4: 148,356,089 (GRCm39) |
E257G |
probably damaging |
Het |
Dnajc6 |
T |
C |
4: 101,456,185 (GRCm39) |
S58P |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,584,285 (GRCm39) |
D140E |
possibly damaging |
Het |
Dop1a |
T |
C |
9: 86,374,057 (GRCm39) |
V172A |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Eci3 |
C |
T |
13: 35,137,011 (GRCm39) |
A171T |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,927,986 (GRCm39) |
D284G |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,838,183 (GRCm39) |
E2687G |
possibly damaging |
Het |
Fut9 |
A |
C |
4: 25,620,352 (GRCm39) |
L154R |
probably damaging |
Het |
Gabrb2 |
A |
G |
11: 42,517,540 (GRCm39) |
N454S |
probably benign |
Het |
Gpr183 |
T |
A |
14: 122,192,153 (GRCm39) |
I123L |
probably benign |
Het |
Gucy1b1 |
A |
T |
3: 81,965,659 (GRCm39) |
N62K |
probably benign |
Het |
Hcrtr2 |
T |
C |
9: 76,167,067 (GRCm39) |
N90S |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,791,577 (GRCm39) |
L2556Q |
probably damaging |
Het |
Hfm1 |
T |
A |
5: 106,995,542 (GRCm39) |
M1290L |
probably benign |
Het |
Hgsnat |
A |
G |
8: 26,447,284 (GRCm39) |
W337R |
probably benign |
Het |
Hmbox1 |
T |
C |
14: 65,066,097 (GRCm39) |
Y291C |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,597,415 (GRCm39) |
N1749S |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,238,693 (GRCm39) |
D496G |
possibly damaging |
Het |
Iqch |
C |
T |
9: 63,441,619 (GRCm39) |
|
probably null |
Het |
Irf6 |
A |
G |
1: 192,849,843 (GRCm39) |
D255G |
probably benign |
Het |
Kif9 |
G |
A |
9: 110,346,787 (GRCm39) |
G642R |
probably null |
Het |
Klhl20 |
A |
G |
1: 160,934,312 (GRCm39) |
Y236H |
probably benign |
Het |
Krt39 |
T |
A |
11: 99,409,914 (GRCm39) |
K208* |
probably null |
Het |
Lama3 |
T |
A |
18: 12,670,838 (GRCm39) |
L808* |
probably null |
Het |
Lrp5 |
C |
T |
19: 3,647,346 (GRCm39) |
A1299T |
probably benign |
Het |
Lysmd4 |
A |
G |
7: 66,875,979 (GRCm39) |
Q214R |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,263,641 (GRCm39) |
E6960V |
probably damaging |
Het |
Mcpt2 |
A |
G |
14: 56,281,156 (GRCm39) |
E120G |
probably benign |
Het |
Mpeg1 |
A |
G |
19: 12,439,720 (GRCm39) |
T393A |
probably benign |
Het |
Myh4 |
G |
A |
11: 67,146,508 (GRCm39) |
E1494K |
probably damaging |
Het |
Nbas |
T |
G |
12: 13,524,230 (GRCm39) |
S1695R |
possibly damaging |
Het |
Nlgn1 |
G |
T |
3: 25,494,201 (GRCm39) |
Y249* |
probably null |
Het |
Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
Nup107 |
A |
G |
10: 117,586,811 (GRCm39) |
L910P |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,931,122 (GRCm39) |
D5838V |
probably damaging |
Het |
Or10g7 |
T |
C |
9: 39,905,655 (GRCm39) |
I183T |
probably benign |
Het |
Or1j18 |
T |
C |
2: 36,624,357 (GRCm39) |
I8T |
probably benign |
Het |
Or4c113 |
G |
A |
2: 88,885,203 (GRCm39) |
T189M |
possibly damaging |
Het |
Or8d2b |
T |
C |
9: 38,788,892 (GRCm39) |
I140T |
possibly damaging |
Het |
Otogl |
G |
T |
10: 107,690,125 (GRCm39) |
S915Y |
possibly damaging |
Het |
P2rx7 |
T |
A |
5: 122,819,095 (GRCm39) |
C506S |
probably damaging |
Het |
P4hb |
T |
C |
11: 120,454,044 (GRCm39) |
E350G |
probably benign |
Het |
Papolg |
A |
T |
11: 23,817,379 (GRCm39) |
V606E |
probably benign |
Het |
Pappa |
A |
T |
4: 65,258,980 (GRCm39) |
D1576V |
probably damaging |
Het |
Pclo |
G |
T |
5: 14,828,566 (GRCm39) |
V1402F |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,086,626 (GRCm39) |
T211A |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,373,941 (GRCm39) |
R2065G |
possibly damaging |
Het |
Plcl2 |
T |
C |
17: 50,914,878 (GRCm39) |
V629A |
probably benign |
Het |
Prkcsh |
G |
A |
9: 21,915,871 (GRCm39) |
V92I |
possibly damaging |
Het |
Prpf19 |
G |
T |
19: 10,879,780 (GRCm39) |
V320F |
probably damaging |
Het |
Ptpn3 |
T |
A |
4: 57,239,682 (GRCm39) |
I283F |
probably damaging |
Het |
Rcc2 |
T |
A |
4: 140,447,915 (GRCm39) |
D480E |
probably benign |
Het |
Rnf182 |
G |
A |
13: 43,821,518 (GRCm39) |
C23Y |
probably damaging |
Het |
Rnf186 |
C |
T |
4: 138,694,673 (GRCm39) |
T71I |
probably benign |
Het |
Scyl3 |
A |
G |
1: 163,761,265 (GRCm39) |
|
probably null |
Het |
Slc12a6 |
G |
T |
2: 112,166,272 (GRCm39) |
|
probably null |
Het |
Slc1a2 |
C |
A |
2: 102,607,912 (GRCm39) |
S520Y |
probably damaging |
Het |
Slc35e2 |
T |
A |
4: 155,696,186 (GRCm39) |
L191Q |
probably damaging |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Snx33 |
T |
C |
9: 56,833,295 (GRCm39) |
H258R |
possibly damaging |
Het |
Tecpr2 |
A |
T |
12: 110,899,498 (GRCm39) |
H622L |
probably benign |
Het |
Thbs3 |
A |
T |
3: 89,133,713 (GRCm39) |
E888D |
probably damaging |
Het |
Tlk2 |
T |
C |
11: 105,112,124 (GRCm39) |
L159P |
probably benign |
Het |
Tmem70 |
A |
T |
1: 16,747,497 (GRCm39) |
T205S |
probably damaging |
Het |
Trappc10 |
T |
A |
10: 78,032,285 (GRCm39) |
H1001L |
probably benign |
Het |
Trim12a |
T |
C |
7: 103,950,064 (GRCm39) |
T292A |
probably benign |
Het |
Trip11 |
G |
A |
12: 101,849,592 (GRCm39) |
R92* |
probably null |
Het |
Trpa1 |
G |
A |
1: 14,969,612 (GRCm39) |
Q386* |
probably null |
Het |
Trpc4 |
T |
A |
3: 54,187,410 (GRCm39) |
V454D |
probably damaging |
Het |
Ttc36 |
A |
T |
9: 44,714,051 (GRCm39) |
D22E |
probably benign |
Het |
Ttk |
A |
T |
9: 83,751,316 (GRCm39) |
I798F |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,573,977 (GRCm39) |
I17312V |
probably damaging |
Het |
Txndc15 |
A |
T |
13: 55,865,875 (GRCm39) |
E113V |
possibly damaging |
Het |
Ube2d4 |
T |
A |
15: 58,718,448 (GRCm39) |
|
noncoding transcript |
Het |
Urb1 |
T |
A |
16: 90,558,583 (GRCm39) |
T1723S |
probably benign |
Het |
Vmn1r65 |
A |
T |
7: 6,011,265 (GRCm39) |
V323D |
possibly damaging |
Het |
Vmn2r54 |
A |
G |
7: 12,366,238 (GRCm39) |
M232T |
probably benign |
Het |
Wdr59 |
A |
G |
8: 112,202,813 (GRCm39) |
S577P |
probably damaging |
Het |
Wfikkn2 |
C |
T |
11: 94,128,949 (GRCm39) |
W397* |
probably null |
Het |
Ypel1 |
T |
A |
16: 16,899,511 (GRCm39) |
|
probably null |
Het |
Ythdf1 |
T |
A |
2: 180,552,763 (GRCm39) |
D484V |
probably damaging |
Het |
Zdhhc17 |
A |
G |
10: 110,783,154 (GRCm39) |
|
probably null |
Het |
Zfp472 |
A |
T |
17: 33,184,887 (GRCm39) |
H2L |
possibly damaging |
Het |
Zfp953 |
A |
T |
13: 67,493,422 (GRCm39) |
M74K |
probably benign |
Het |
Zmat4 |
C |
T |
8: 24,419,151 (GRCm39) |
T61M |
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 |
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'- AATCGGGCTAGGTTCTGTATGC -3'
(R):5'- GATTACTGATTCATTGCCGTCC -3'
Sequencing Primer
(F):5'- GCTAGGTTCTGTATGCACACATG -3'
(R):5'- CTTTTGATAGTAGTCACTTGCATGC -3'
|
Posted On |
2014-06-23 |