Incidental Mutation 'R1937:Eml2'
| ID |
213542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml2
|
| Ensembl Gene |
ENSMUSG00000040811 |
| Gene Name |
echinoderm microtubule associated protein like 2 |
| Synonyms |
1600029N02Rik |
| MMRRC Submission |
039955-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1937 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
18910346-18940407 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18937889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 586
(K586E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048502]
[ENSMUST00000117338]
[ENSMUST00000120595]
[ENSMUST00000148246]
|
| AlphaFold |
Q7TNG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048502
AA Change: K605E
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037654
Gene: ENSMUSG00000040811
AA Change: K605E
| 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 benign
Transcript: ENSMUST00000117338
AA Change: K778E
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112491
Gene: ENSMUSG00000040811
AA Change: K778E
| 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 |
possibly damaging
Transcript: ENSMUST00000120595
AA Change: K586E
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112447
Gene: ENSMUSG00000040811
AA Change: K586E
| 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 |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
C |
A |
5: 48,531,777 (GRCm39) |
T35K |
probably benign |
Het |
| Abhd14a |
A |
G |
9: 106,317,446 (GRCm39) |
|
probably benign |
Het |
| Abhd8 |
A |
G |
8: 71,914,506 (GRCm39) |
F41L |
possibly damaging |
Het |
| Ace2 |
A |
T |
X: 162,939,524 (GRCm39) |
M123L |
possibly damaging |
Het |
| Actr5 |
T |
C |
2: 158,477,949 (GRCm39) |
Y440H |
possibly damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,496,383 (GRCm39) |
N81K |
probably benign |
Het |
| Aqp11 |
T |
A |
7: 97,386,725 (GRCm39) |
N157I |
possibly damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,071,282 (GRCm39) |
E568G |
probably damaging |
Het |
| Asb7 |
T |
A |
7: 66,329,001 (GRCm39) |
Q13L |
probably benign |
Het |
| Atf7ip |
C |
A |
6: 136,537,778 (GRCm39) |
A345E |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Bpifb4 |
A |
T |
2: 153,785,996 (GRCm39) |
I259F |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,038,925 (GRCm39) |
D1218E |
probably damaging |
Het |
| Capg |
A |
G |
6: 72,535,236 (GRCm39) |
|
probably null |
Het |
| Cep290 |
C |
T |
10: 100,333,815 (GRCm39) |
T289M |
possibly damaging |
Het |
| Cfap69 |
T |
C |
5: 5,643,818 (GRCm39) |
Y548C |
probably damaging |
Het |
| Cfap97d1 |
A |
T |
11: 101,877,989 (GRCm39) |
H17L |
probably damaging |
Het |
| Cimip2b |
T |
A |
4: 43,427,586 (GRCm39) |
K220N |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,377,340 (GRCm39) |
L652P |
probably damaging |
Het |
| Col3a1 |
C |
T |
1: 45,373,453 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,446,596 (GRCm39) |
E843G |
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,961,442 (GRCm39) |
S188P |
probably damaging |
Het |
| Crppa |
G |
A |
12: 36,440,367 (GRCm39) |
V92I |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,485,289 (GRCm39) |
F307L |
probably benign |
Het |
| Cyb561d2 |
G |
A |
9: 107,417,515 (GRCm39) |
R79W |
probably damaging |
Het |
| Cyp3a59 |
T |
C |
5: 146,031,187 (GRCm39) |
S117P |
possibly damaging |
Het |
| Ddias |
A |
G |
7: 92,507,830 (GRCm39) |
I695T |
probably benign |
Het |
| Dhx29 |
G |
A |
13: 113,101,864 (GRCm39) |
G1311D |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,139,159 (GRCm39) |
|
probably null |
Het |
| Ece2 |
T |
A |
16: 20,436,616 (GRCm39) |
V146E |
probably damaging |
Het |
| Eps8l3 |
A |
G |
3: 107,791,708 (GRCm39) |
E316G |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,493,863 (GRCm39) |
L22H |
probably damaging |
Het |
| Focad |
T |
A |
4: 88,319,318 (GRCm39) |
M1K |
probably null |
Het |
| Fryl |
A |
G |
5: 73,290,710 (GRCm39) |
S65P |
probably damaging |
Het |
| Gm14190 |
C |
T |
11: 99,581,556 (GRCm39) |
C4Y |
unknown |
Het |
| H2-T5 |
T |
A |
17: 36,478,899 (GRCm39) |
T117S |
probably damaging |
Het |
| Ift74 |
T |
A |
4: 94,550,883 (GRCm39) |
M345K |
probably benign |
Het |
| Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
| Kcng1 |
T |
C |
2: 168,104,941 (GRCm39) |
T302A |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,930,278 (GRCm39) |
V1221A |
possibly damaging |
Het |
| Kif23 |
A |
T |
9: 61,853,892 (GRCm39) |
|
probably null |
Het |
| Lpxn |
T |
G |
19: 12,802,274 (GRCm39) |
S200A |
probably benign |
Het |
| Meiob |
A |
G |
17: 25,037,305 (GRCm39) |
H61R |
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,056,799 (GRCm39) |
L425F |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,401,126 (GRCm39) |
S632C |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,307,100 (GRCm39) |
Y374* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,372,826 (GRCm39) |
S582G |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,173,798 (GRCm39) |
Q985L |
probably damaging |
Het |
| Oas1c |
T |
A |
5: 120,941,049 (GRCm39) |
H248L |
probably benign |
Het |
| Or5c1 |
A |
T |
2: 37,221,896 (GRCm39) |
N46Y |
probably damaging |
Het |
| Or5g26 |
T |
C |
2: 85,494,341 (GRCm39) |
I146V |
probably benign |
Het |
| Or5h25 |
A |
T |
16: 58,930,157 (GRCm39) |
M272K |
probably benign |
Het |
| Or8g35 |
A |
G |
9: 39,381,333 (GRCm39) |
S230P |
possibly damaging |
Het |
| Pamr1 |
A |
T |
2: 102,472,617 (GRCm39) |
I639F |
possibly damaging |
Het |
| Panx1 |
G |
T |
9: 14,918,980 (GRCm39) |
T293K |
possibly damaging |
Het |
| Papss1 |
G |
T |
3: 131,305,632 (GRCm39) |
V226F |
probably benign |
Het |
| Pax1 |
G |
T |
2: 147,209,809 (GRCm39) |
G301V |
possibly damaging |
Het |
| Pdlim5 |
C |
A |
3: 141,950,742 (GRCm39) |
R557L |
possibly damaging |
Het |
| Pdyn |
C |
A |
2: 129,531,729 (GRCm39) |
M20I |
probably benign |
Het |
| Pelp1 |
G |
A |
11: 70,284,541 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
T |
C |
5: 104,626,790 (GRCm39) |
V324A |
probably damaging |
Het |
| Pkdrej |
A |
G |
15: 85,703,368 (GRCm39) |
I856T |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,913,536 (GRCm39) |
|
probably null |
Het |
| Pot1a |
A |
T |
6: 25,753,323 (GRCm39) |
D404E |
probably benign |
Het |
| Ppp2r2a |
A |
T |
14: 67,253,878 (GRCm39) |
I430N |
possibly damaging |
Het |
| Prob1 |
C |
T |
18: 35,787,279 (GRCm39) |
R325Q |
possibly damaging |
Het |
| Prrc2a |
T |
C |
17: 35,376,884 (GRCm39) |
D742G |
probably damaging |
Het |
| Psmc1 |
C |
T |
12: 100,081,102 (GRCm39) |
P54S |
probably benign |
Het |
| Rab22a |
A |
G |
2: 173,530,004 (GRCm39) |
T61A |
probably damaging |
Het |
| Rims1 |
T |
A |
1: 22,358,754 (GRCm39) |
K184N |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,322,511 (GRCm39) |
R1376H |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,683,848 (GRCm39) |
E3072G |
probably damaging |
Het |
| Serpina1b |
T |
C |
12: 103,698,420 (GRCm39) |
K143R |
probably benign |
Het |
| Slc22a15 |
T |
G |
3: 101,787,505 (GRCm39) |
|
probably null |
Het |
| Slc25a14 |
G |
A |
X: 47,740,840 (GRCm39) |
V210I |
probably benign |
Het |
| Slc25a48 |
A |
C |
13: 56,596,811 (GRCm39) |
T31P |
probably damaging |
Het |
| Slc9a3 |
C |
T |
13: 74,314,175 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,805,030 (GRCm39) |
*105W |
probably null |
Het |
| Smc6 |
A |
G |
12: 11,349,399 (GRCm39) |
N794S |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,834,307 (GRCm39) |
R387Q |
probably damaging |
Het |
| Sphkap |
C |
A |
1: 83,245,162 (GRCm39) |
E1486* |
probably null |
Het |
| Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
| St8sia1 |
C |
T |
6: 142,909,398 (GRCm39) |
A33T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,194,399 (GRCm39) |
T12A |
possibly damaging |
Het |
| Tmem144 |
G |
T |
3: 79,732,611 (GRCm39) |
S222R |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,646,849 (GRCm39) |
D1450G |
possibly damaging |
Het |
| Top1 |
A |
T |
2: 160,512,042 (GRCm39) |
K27N |
unknown |
Het |
| Tox2 |
A |
G |
2: 163,067,476 (GRCm39) |
H30R |
probably benign |
Het |
| Tra2b |
T |
C |
16: 22,065,993 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
T |
15: 27,833,142 (GRCm39) |
V1165E |
probably damaging |
Het |
| Troap |
T |
A |
15: 98,975,269 (GRCm39) |
S145R |
probably damaging |
Het |
| Ttc34 |
G |
A |
4: 154,950,139 (GRCm39) |
A1031T |
possibly damaging |
Het |
| Ttc6 |
C |
T |
12: 57,663,109 (GRCm39) |
P302S |
probably benign |
Het |
| Ubiad1 |
A |
G |
4: 148,528,468 (GRCm39) |
L147P |
probably damaging |
Het |
| Ugt2b35 |
G |
T |
5: 87,149,141 (GRCm39) |
V131F |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,804,401 (GRCm39) |
D200E |
probably damaging |
Het |
| Vmn1r167 |
G |
A |
7: 23,204,452 (GRCm39) |
T188I |
probably benign |
Het |
| Vmn1r46 |
G |
T |
6: 89,953,716 (GRCm39) |
M188I |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,388 (GRCm39) |
N620K |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,644,344 (GRCm39) |
S689P |
probably damaging |
Het |
| Wipf2 |
C |
T |
11: 98,783,236 (GRCm39) |
R221* |
probably null |
Het |
| Zbtb16 |
T |
C |
9: 48,571,078 (GRCm39) |
S563G |
probably benign |
Het |
| Zfp319 |
T |
C |
8: 96,055,199 (GRCm39) |
T335A |
probably damaging |
Het |
| Zfp418 |
A |
G |
7: 7,185,401 (GRCm39) |
R455G |
possibly 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 |
|
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 |
|
R6394: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'- TTGAGACACCCCTCCATAAGTTAC -3'
(R):5'- TGGGGAAACTACAGTTCCGAG -3'
Sequencing Primer
(F):5'- TCCATAAGTTACCCAAGGAGGTCTTC -3'
(R):5'- AACATCCTTGGCTATAGCGG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation