Incidental Mutation 'R5092:Eml5'
| ID |
387859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
042681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R5092 (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 98758875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1766
(D1766G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057000]
[ENSMUST00000065716]
[ENSMUST00000110104]
[ENSMUST00000110105]
[ENSMUST00000223282]
|
| AlphaFold |
Q8BQM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057000
|
| SMART Domains |
Protein: ENSMUSP00000055879
Gene: ENSMUSG00000021012
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
440 |
463 |
7.16e-1 |
SMART |
|
ZnF_C3H1
|
465 |
484 |
5.27e1 |
SMART |
|
ZnF_C3H1
|
520 |
542 |
5.55e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065716
AA Change: D1766G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: D1766G
| 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 benign
Transcript: ENSMUST00000110104
|
| SMART Domains |
Protein: ENSMUSP00000105731
Gene: ENSMUSG00000021012
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
465 |
488 |
7.16e-1 |
SMART |
|
ZnF_C3H1
|
490 |
509 |
5.27e1 |
SMART |
|
ZnF_C3H1
|
545 |
567 |
5.55e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110105
|
| SMART Domains |
Protein: ENSMUSP00000105732
Gene: ENSMUSG00000021012
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
596 |
619 |
7.16e-1 |
SMART |
|
ZnF_C3H1
|
621 |
640 |
5.27e1 |
SMART |
|
ZnF_C3H1
|
676 |
698 |
5.55e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221902
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223282
AA Change: D1813G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222717
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222097
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
T |
7: 40,637,091 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,208,535 (GRCm39) |
L236Q |
probably damaging |
Het |
| Acp2 |
A |
T |
2: 91,038,391 (GRCm39) |
T255S |
probably benign |
Het |
| Acsf3 |
A |
C |
8: 123,544,131 (GRCm39) |
R536S |
probably benign |
Het |
| Adgrb1 |
T |
G |
15: 74,401,664 (GRCm39) |
V220G |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,919,854 (GRCm39) |
Q74R |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,054,234 (GRCm39) |
M3118L |
probably benign |
Het |
| Brf1 |
G |
A |
12: 112,943,352 (GRCm39) |
T166M |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,324,264 (GRCm39) |
K188R |
probably damaging |
Het |
| Casp8 |
A |
T |
1: 58,883,835 (GRCm39) |
N381Y |
possibly damaging |
Het |
| Ccdc88b |
A |
G |
19: 6,825,600 (GRCm39) |
S1218P |
probably damaging |
Het |
| Cdc42bpg |
C |
T |
19: 6,363,250 (GRCm39) |
P403S |
probably benign |
Het |
| Cdkal1 |
T |
A |
13: 30,030,222 (GRCm39) |
Y91F |
probably damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,350,679 (GRCm39) |
N151D |
possibly damaging |
Het |
| Cnot1 |
T |
A |
8: 96,479,396 (GRCm39) |
R875S |
possibly damaging |
Het |
| Cpd |
A |
G |
11: 76,702,530 (GRCm39) |
S613P |
possibly damaging |
Het |
| Cyp2e1 |
G |
T |
7: 140,354,648 (GRCm39) |
R492L |
probably damaging |
Het |
| D5Ertd579e |
G |
A |
5: 36,760,047 (GRCm39) |
T1371M |
probably benign |
Het |
| Dcaf8 |
A |
G |
1: 172,014,476 (GRCm39) |
T394A |
probably benign |
Het |
| Dgka |
T |
C |
10: 128,571,702 (GRCm39) |
E117G |
probably damaging |
Het |
| Dock4 |
G |
A |
12: 40,894,440 (GRCm39) |
V1867I |
probably benign |
Het |
| E2f2 |
G |
T |
4: 135,914,248 (GRCm39) |
A333S |
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,968,354 (GRCm39) |
S208P |
probably benign |
Het |
| Elovl3 |
A |
T |
19: 46,122,961 (GRCm39) |
H179L |
probably damaging |
Het |
| Eno4 |
A |
G |
19: 58,934,023 (GRCm39) |
T75A |
probably benign |
Het |
| Fam135a |
C |
T |
1: 24,067,888 (GRCm39) |
D94N |
probably benign |
Het |
| Fasn |
G |
T |
11: 120,705,862 (GRCm39) |
Q1136K |
probably benign |
Het |
| Fcer1a |
T |
G |
1: 173,053,022 (GRCm39) |
N58T |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,272,941 (GRCm39) |
D763V |
probably damaging |
Het |
| Gm43518 |
A |
G |
5: 124,076,297 (GRCm39) |
T115A |
probably damaging |
Het |
| Gria4 |
C |
T |
9: 4,472,176 (GRCm39) |
E438K |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,503,692 (GRCm39) |
E681G |
probably damaging |
Het |
| Gtf3c5 |
G |
T |
2: 28,472,885 (GRCm39) |
N35K |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,309,300 (GRCm39) |
T4031A |
probably benign |
Het |
| Igfn1 |
G |
T |
1: 135,892,564 (GRCm39) |
N2185K |
probably benign |
Het |
| Il17rb |
T |
C |
14: 29,724,333 (GRCm39) |
T174A |
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,946,515 (GRCm39) |
C835S |
probably benign |
Het |
| Lgi2 |
A |
T |
5: 52,695,429 (GRCm39) |
I510N |
probably damaging |
Het |
| Map3k6 |
A |
G |
4: 132,979,054 (GRCm39) |
E1164G |
probably benign |
Het |
| Mpv17l |
T |
A |
16: 13,758,537 (GRCm39) |
M1K |
probably null |
Het |
| Myoc |
T |
A |
1: 162,467,203 (GRCm39) |
L124Q |
probably damaging |
Het |
| Nbeal2 |
C |
A |
9: 110,455,796 (GRCm39) |
|
probably null |
Het |
| Nek10 |
A |
G |
14: 14,820,851 (GRCm38) |
K13E |
possibly damaging |
Het |
| Nt5dc2 |
A |
G |
14: 30,860,989 (GRCm39) |
H491R |
possibly damaging |
Het |
| Or4f61 |
A |
C |
2: 111,922,452 (GRCm39) |
M198R |
possibly damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,406 (GRCm39) |
Y250* |
probably null |
Het |
| Or8k21 |
T |
C |
2: 86,144,706 (GRCm39) |
Q308R |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,727,322 (GRCm39) |
|
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,265,092 (GRCm39) |
N371I |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,508,762 (GRCm39) |
S873T |
possibly damaging |
Het |
| Plch1 |
T |
C |
3: 63,606,131 (GRCm39) |
T1249A |
probably benign |
Het |
| Plekhn1 |
A |
T |
4: 156,309,222 (GRCm39) |
I228N |
possibly damaging |
Het |
| Ppp1r12a |
A |
T |
10: 108,103,263 (GRCm39) |
|
probably null |
Het |
| Ptchd3 |
T |
C |
11: 121,721,972 (GRCm39) |
Y282H |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,468,769 (GRCm39) |
N1396K |
probably damaging |
Het |
| Rap1gap2 |
T |
C |
11: 74,329,121 (GRCm39) |
E81G |
probably damaging |
Het |
| Rpf2 |
T |
C |
10: 40,122,971 (GRCm39) |
M1V |
probably null |
Het |
| Rpgrip1l |
G |
A |
8: 91,948,012 (GRCm39) |
Q1224* |
probably null |
Het |
| Rreb1 |
A |
G |
13: 38,112,254 (GRCm39) |
D286G |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Senp5 |
A |
T |
16: 31,807,960 (GRCm39) |
N431K |
probably benign |
Het |
| Serpina1f |
A |
C |
12: 103,659,809 (GRCm39) |
S158A |
probably damaging |
Het |
| Sertad3 |
T |
A |
7: 27,176,145 (GRCm39) |
I193N |
probably damaging |
Het |
| Slc22a8 |
T |
A |
19: 8,571,528 (GRCm39) |
N86K |
probably damaging |
Het |
| Slc6a2 |
T |
C |
8: 93,721,347 (GRCm39) |
V492A |
possibly damaging |
Het |
| Slf2 |
T |
A |
19: 44,940,523 (GRCm39) |
D773E |
probably benign |
Het |
| Slmap |
A |
C |
14: 26,184,744 (GRCm39) |
L272R |
probably damaging |
Het |
| Smyd5 |
T |
C |
6: 85,422,185 (GRCm39) |
|
probably benign |
Het |
| Snx21 |
G |
T |
2: 164,628,666 (GRCm39) |
R103L |
probably damaging |
Het |
| Sphk2 |
T |
A |
7: 45,361,777 (GRCm39) |
|
probably null |
Het |
| Stab1 |
T |
C |
14: 30,867,812 (GRCm39) |
K1653E |
probably benign |
Het |
| Syde1 |
A |
G |
10: 78,425,252 (GRCm39) |
V253A |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,776,584 (GRCm39) |
R492L |
probably benign |
Het |
| Taar7f |
T |
C |
10: 23,925,451 (GRCm39) |
I15T |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 40,468,200 (GRCm39) |
D10G |
probably benign |
Het |
| Tbcc |
A |
G |
17: 47,202,600 (GRCm39) |
S329G |
probably benign |
Het |
| Teddm3 |
G |
A |
16: 20,971,900 (GRCm39) |
T223M |
probably benign |
Het |
| Tex14 |
G |
T |
11: 87,405,668 (GRCm39) |
C860F |
probably benign |
Het |
| Thada |
A |
T |
17: 84,751,896 (GRCm39) |
L360Q |
probably damaging |
Het |
| Thop1 |
C |
A |
10: 80,916,412 (GRCm39) |
H473Q |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,163,310 (GRCm39) |
D1075G |
probably benign |
Het |
| Tmem130 |
G |
A |
5: 144,680,528 (GRCm39) |
T292I |
probably benign |
Het |
| Tmem198b |
T |
C |
10: 128,637,305 (GRCm39) |
N278S |
probably benign |
Het |
| Ttc21a |
A |
T |
9: 119,771,731 (GRCm39) |
T177S |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,280,173 (GRCm39) |
C659S |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,298,373 (GRCm39) |
K585R |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,456 (GRCm39) |
I720T |
probably damaging |
Het |
| Wdr35 |
G |
T |
12: 9,037,327 (GRCm39) |
W311L |
probably damaging |
Het |
| Zfp39 |
A |
T |
11: 58,782,028 (GRCm39) |
F245I |
possibly damaging |
Het |
| Zftraf1 |
A |
T |
15: 76,530,512 (GRCm39) |
F269L |
probably benign |
Het |
| Zmym5 |
G |
A |
14: 57,034,236 (GRCm39) |
T325I |
probably benign |
Het |
| Zng1 |
A |
T |
19: 24,898,383 (GRCm39) |
|
probably null |
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 |
|
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'- CACAAAGTCTTTTCTAGTGGGC -3'
(R):5'- GCATGTTTGATCAGTTACCTTCTAGG -3'
Sequencing Primer
(F):5'- TTTTCACAAAGAATGGGCTACAG -3'
(R):5'- CTACATGGGACCTAACACT -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation