Incidental Mutation 'R6394:Eml2'
| ID |
515939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml2
|
| Ensembl Gene |
ENSMUSG00000040811 |
| Gene Name |
echinoderm microtubule associated protein like 2 |
| Synonyms |
1600029N02Rik |
| MMRRC Submission |
044543-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18910346-18940407 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 18935088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 432
(V432I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048502]
[ENSMUST00000117338]
[ENSMUST00000120595]
[ENSMUST00000148246]
|
| AlphaFold |
Q7TNG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048502
AA Change: V451I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: V451I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HELP
|
17 |
65 |
4.6e-14 |
PFAM |
|
WD40
|
113 |
162 |
8.36e-2 |
SMART |
|
WD40
|
165 |
210 |
9.21e0 |
SMART |
|
WD40
|
213 |
252 |
7.99e-1 |
SMART |
|
WD40
|
258 |
298 |
3.7e0 |
SMART |
|
WD40
|
301 |
341 |
3.58e-1 |
SMART |
|
WD40
|
385 |
424 |
5.52e-2 |
SMART |
|
WD40
|
427 |
465 |
1.1e1 |
SMART |
|
WD40
|
468 |
507 |
4.95e-4 |
SMART |
|
WD40
|
514 |
553 |
4.62e-4 |
SMART |
|
WD40
|
579 |
620 |
4.75e1 |
SMART |
|
WD40
|
626 |
666 |
2.67e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117338
AA Change: V624I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: V624I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
coiled coil region
|
59 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
191 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
211 |
285 |
3.5e-29 |
PFAM |
|
WD40
|
286 |
335 |
5.5e-4 |
SMART |
|
WD40
|
338 |
383 |
5.8e-2 |
SMART |
|
WD40
|
386 |
425 |
5.2e-3 |
SMART |
|
WD40
|
431 |
471 |
2.4e-2 |
SMART |
|
WD40
|
474 |
514 |
2.3e-3 |
SMART |
|
WD40
|
558 |
597 |
3.6e-4 |
SMART |
|
WD40
|
600 |
638 |
7.1e-2 |
SMART |
|
WD40
|
641 |
680 |
3.1e-6 |
SMART |
|
WD40
|
687 |
726 |
3.1e-6 |
SMART |
|
WD40
|
752 |
793 |
3e-1 |
SMART |
|
WD40
|
799 |
839 |
1.7e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120595
AA Change: V432I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: V432I
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
94 |
154 |
2.48e0 |
SMART |
|
WD40
|
157 |
196 |
7.99e-1 |
SMART |
|
WD40
|
202 |
242 |
3.7e0 |
SMART |
|
WD40
|
245 |
285 |
3.58e-1 |
SMART |
|
WD40
|
329 |
368 |
5.52e-2 |
SMART |
|
WD40
|
371 |
409 |
1.1e1 |
SMART |
|
WD40
|
412 |
451 |
4.95e-4 |
SMART |
|
WD40
|
458 |
497 |
4.62e-4 |
SMART |
|
WD40
|
523 |
564 |
4.75e1 |
SMART |
|
WD40
|
570 |
610 |
2.67e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148246
|
| SMART Domains |
Protein: ENSMUSP00000115466
Gene: ENSMUSG00000040811
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
94 |
143 |
8.36e-2 |
SMART |
|
WD40
|
146 |
191 |
9.21e0 |
SMART |
|
WD40
|
194 |
233 |
7.99e-1 |
SMART |
|
WD40
|
239 |
279 |
3.7e0 |
SMART |
|
WD40
|
282 |
322 |
3.58e-1 |
SMART |
|
WD40
|
366 |
405 |
5.52e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.2533 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
T |
14: 78,760,029 (GRCm39) |
|
probably null |
Het |
| Alpi |
T |
A |
1: 87,028,428 (GRCm39) |
Y154F |
possibly damaging |
Het |
| Als2 |
A |
T |
1: 59,206,356 (GRCm39) |
F1635I |
probably damaging |
Het |
| Anxa1 |
C |
T |
19: 20,361,213 (GRCm39) |
V60M |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,116,464 (GRCm39) |
Y937C |
probably damaging |
Het |
| Brd4 |
C |
A |
17: 32,443,121 (GRCm39) |
E167* |
probably null |
Het |
| Cacna1h |
G |
A |
17: 25,606,455 (GRCm39) |
T1048I |
probably benign |
Het |
| Ccdc113 |
A |
G |
8: 96,283,820 (GRCm39) |
D298G |
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,394,605 (GRCm39) |
N74I |
possibly damaging |
Het |
| Chd8 |
A |
T |
14: 52,440,042 (GRCm39) |
H4Q |
possibly damaging |
Het |
| Clcn1 |
A |
G |
6: 42,284,524 (GRCm39) |
T621A |
possibly damaging |
Het |
| Clcn1 |
A |
G |
6: 42,290,172 (GRCm39) |
T843A |
possibly damaging |
Het |
| Clcn3 |
C |
T |
8: 61,394,325 (GRCm39) |
R68Q |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,132 (GRCm39) |
N355K |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,132,401 (GRCm39) |
C1100* |
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,168,331 (GRCm39) |
V428E |
probably damaging |
Het |
| E230025N22Rik |
T |
C |
18: 36,819,839 (GRCm39) |
E317G |
probably damaging |
Het |
| Evc2 |
C |
A |
5: 37,535,619 (GRCm39) |
D431E |
probably damaging |
Het |
| Gcm2 |
T |
G |
13: 41,263,373 (GRCm39) |
T20P |
probably damaging |
Het |
| Gdf9 |
A |
G |
11: 53,327,524 (GRCm39) |
Y160C |
probably damaging |
Het |
| Gm8220 |
A |
G |
14: 44,523,134 (GRCm39) |
|
probably benign |
Het |
| Gpalpp1 |
A |
T |
14: 76,344,852 (GRCm39) |
S44T |
possibly damaging |
Het |
| Grip2 |
T |
C |
6: 91,764,182 (GRCm39) |
Y134C |
probably damaging |
Het |
| Hephl1 |
A |
G |
9: 14,985,397 (GRCm39) |
F753S |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,302,341 (GRCm39) |
T727A |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,865,729 (GRCm39) |
E4232G |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,556,581 (GRCm39) |
L726P |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,642,548 (GRCm39) |
|
probably null |
Het |
| Jrkl |
A |
C |
9: 13,245,495 (GRCm39) |
Y55* |
probably null |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Kif18b |
A |
G |
11: 102,805,236 (GRCm39) |
V303A |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,144,830 (GRCm39) |
C423* |
probably null |
Het |
| Klhl29 |
T |
C |
12: 5,187,720 (GRCm39) |
S215G |
probably benign |
Het |
| Lamp5 |
A |
G |
2: 135,902,929 (GRCm39) |
D216G |
possibly damaging |
Het |
| Leo1 |
T |
A |
9: 75,352,752 (GRCm39) |
D98E |
probably benign |
Het |
| Map3k3 |
T |
C |
11: 106,039,709 (GRCm39) |
V283A |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,142,508 (GRCm39) |
K902E |
probably damaging |
Het |
| Mmp1b |
C |
A |
9: 7,386,316 (GRCm39) |
D202Y |
probably benign |
Het |
| Muc21 |
A |
T |
17: 35,931,058 (GRCm39) |
|
probably benign |
Het |
| Onecut3 |
A |
G |
10: 80,331,847 (GRCm39) |
I336V |
probably damaging |
Het |
| Oprl1 |
C |
T |
2: 181,360,795 (GRCm39) |
R257C |
probably damaging |
Het |
| Or10g9 |
T |
C |
9: 39,912,001 (GRCm39) |
Q174R |
probably benign |
Het |
| Or10h1 |
G |
A |
17: 33,418,487 (GRCm39) |
G155D |
probably damaging |
Het |
| Or4c11b |
C |
T |
2: 88,625,296 (GRCm39) |
T190I |
probably benign |
Het |
| Or56b1 |
T |
A |
7: 104,284,909 (GRCm39) |
N9K |
possibly damaging |
Het |
| Or56b1 |
T |
C |
7: 104,285,234 (GRCm39) |
S118P |
possibly damaging |
Het |
| Or5p64 |
C |
T |
7: 107,854,970 (GRCm39) |
R125H |
possibly damaging |
Het |
| Or6c69 |
G |
T |
10: 129,747,789 (GRCm39) |
D119E |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,386,298 (GRCm39) |
V207A |
probably benign |
Het |
| Pde3a |
A |
T |
6: 141,433,237 (GRCm39) |
H756L |
probably damaging |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phyh |
A |
G |
2: 4,940,814 (GRCm39) |
D238G |
probably benign |
Het |
| Pnliprp2 |
T |
A |
19: 58,750,030 (GRCm39) |
N92K |
probably benign |
Het |
| Pole3 |
T |
C |
4: 62,442,263 (GRCm39) |
|
probably benign |
Het |
| Ppm1d |
T |
C |
11: 85,230,498 (GRCm39) |
V372A |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,034,890 (GRCm39) |
I766N |
probably damaging |
Het |
| Prr5 |
T |
A |
15: 84,583,925 (GRCm39) |
V175E |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,898,726 (GRCm39) |
L174* |
probably null |
Het |
| Ptprq |
T |
A |
10: 107,478,804 (GRCm39) |
K1280* |
probably null |
Het |
| Rbp2 |
T |
A |
9: 98,389,873 (GRCm39) |
V95E |
possibly damaging |
Het |
| Rictor |
T |
C |
15: 6,798,790 (GRCm39) |
F346L |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Scn10a |
T |
A |
9: 119,490,386 (GRCm39) |
I519F |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,092,505 (GRCm39) |
V295G |
probably damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,786,176 (GRCm39) |
M642K |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,276,017 (GRCm39) |
G243E |
probably damaging |
Het |
| Smg9 |
T |
C |
7: 24,121,732 (GRCm39) |
Y498H |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,987,039 (GRCm39) |
D175G |
probably damaging |
Het |
| Stard7 |
A |
G |
2: 127,126,161 (GRCm39) |
D71G |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,774,975 (GRCm39) |
Y59* |
probably null |
Het |
| Supt6 |
G |
A |
11: 78,121,891 (GRCm39) |
R254C |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,037,269 (GRCm39) |
T3817I |
probably benign |
Het |
| Tas2r124 |
T |
A |
6: 132,732,039 (GRCm39) |
I116N |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,301,987 (GRCm39) |
E550D |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,774,253 (GRCm39) |
S548P |
probably damaging |
Het |
| Zmynd8 |
C |
A |
2: 165,687,943 (GRCm39) |
E126* |
probably null |
Het |
| Zswim9 |
A |
T |
7: 12,994,889 (GRCm39) |
S422R |
probably damaging |
Het |
|
| Other mutations in Eml2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00690:Eml2
|
APN |
7 |
18,940,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00786:Eml2
|
APN |
7 |
18,936,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01084:Eml2
|
APN |
7 |
18,924,663 (GRCm39) |
nonsense |
probably null |
|
|
IGL01132:Eml2
|
APN |
7 |
18,934,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01678:Eml2
|
APN |
7 |
18,920,047 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01800:Eml2
|
APN |
7 |
18,935,122 (GRCm39) |
intron |
probably benign |
|
|
IGL02517:Eml2
|
APN |
7 |
18,940,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02607:Eml2
|
APN |
7 |
18,940,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02676:Eml2
|
APN |
7 |
18,918,846 (GRCm39) |
nonsense |
probably null |
|
|
IGL03082:Eml2
|
APN |
7 |
18,935,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
puffery
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628_Eml2_697
|
UTSW |
7 |
18,935,479 (GRCm39) |
splice site |
probably benign |
|
|
R0040:Eml2
|
UTSW |
7 |
18,930,539 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0135:Eml2
|
UTSW |
7 |
18,937,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Eml2
|
UTSW |
7 |
18,918,797 (GRCm39) |
nonsense |
probably null |
|
|
R0240:Eml2
|
UTSW |
7 |
18,918,797 (GRCm39) |
nonsense |
probably null |
|
|
R0362:Eml2
|
UTSW |
7 |
18,924,731 (GRCm39) |
splice site |
probably null |
|
|
R0387:Eml2
|
UTSW |
7 |
18,916,184 (GRCm39) |
splice site |
probably null |
|
|
R0432:Eml2
|
UTSW |
7 |
18,913,456 (GRCm39) |
nonsense |
probably null |
|
|
R0614:Eml2
|
UTSW |
7 |
18,936,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628:Eml2
|
UTSW |
7 |
18,935,479 (GRCm39) |
splice site |
probably benign |
|
|
R1078:Eml2
|
UTSW |
7 |
18,913,687 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1531:Eml2
|
UTSW |
7 |
18,930,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Eml2
|
UTSW |
7 |
18,927,986 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1864:Eml2
|
UTSW |
7 |
18,935,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Eml2
|
UTSW |
7 |
18,937,889 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2032:Eml2
|
UTSW |
7 |
18,936,480 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2185:Eml2
|
UTSW |
7 |
18,927,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Eml2
|
UTSW |
7 |
18,910,620 (GRCm39) |
unclassified |
probably benign |
|
|
R3821:Eml2
|
UTSW |
7 |
18,936,911 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4199:Eml2
|
UTSW |
7 |
18,913,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4411:Eml2
|
UTSW |
7 |
18,916,326 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4497:Eml2
|
UTSW |
7 |
18,913,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Eml2
|
UTSW |
7 |
18,937,935 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4912:Eml2
|
UTSW |
7 |
18,927,924 (GRCm39) |
splice site |
probably null |
|
|
R5028:Eml2
|
UTSW |
7 |
18,913,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5192:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Eml2
|
UTSW |
7 |
18,913,188 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5718:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5720:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5727:Eml2
|
UTSW |
7 |
18,924,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5841:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5842:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5843:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6014:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6015:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6073:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6075:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6126:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6128:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6129:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6189:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Eml2
|
UTSW |
7 |
18,913,289 (GRCm39) |
splice site |
probably null |
|
|
R6273:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6435:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6436:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Eml2
|
UTSW |
7 |
18,930,236 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6550:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6551:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6552:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6554:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Eml2
|
UTSW |
7 |
18,930,539 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6598:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6599:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6704:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6705:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6709:Eml2
|
UTSW |
7 |
18,940,136 (GRCm39) |
makesense |
probably null |
|
|
R6730:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Eml2
|
UTSW |
7 |
18,934,432 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6742:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6770:Eml2
|
UTSW |
7 |
18,935,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Eml2
|
UTSW |
7 |
18,930,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6878:Eml2
|
UTSW |
7 |
18,934,537 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7045:Eml2
|
UTSW |
7 |
18,935,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Eml2
|
UTSW |
7 |
18,934,515 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7478:Eml2
|
UTSW |
7 |
18,940,066 (GRCm39) |
nonsense |
probably null |
|
|
R7706:Eml2
|
UTSW |
7 |
18,920,035 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7811:Eml2
|
UTSW |
7 |
18,920,047 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8084:Eml2
|
UTSW |
7 |
18,915,149 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8337:Eml2
|
UTSW |
7 |
18,930,161 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8414:Eml2
|
UTSW |
7 |
18,913,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Eml2
|
UTSW |
7 |
18,927,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8934:Eml2
|
UTSW |
7 |
18,913,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9110:Eml2
|
UTSW |
7 |
18,925,620 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9131:Eml2
|
UTSW |
7 |
18,918,751 (GRCm39) |
missense |
|
|
|
R9144:Eml2
|
UTSW |
7 |
18,935,564 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9261:Eml2
|
UTSW |
7 |
18,913,743 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9285:Eml2
|
UTSW |
7 |
18,925,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9767:Eml2
|
UTSW |
7 |
18,920,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAATGGGGATGGCTTCTG -3'
(R):5'- TGTGACAGGCTGAGATGAAC -3'
Sequencing Primer
(F):5'- CTTCTGGTGGTTTCTGTAAGGCATC -3'
(R):5'- GGATTGAAGCAGCAGGTT -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation