Incidental Mutation 'R4737:Eml5'
| ID |
359366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml5
|
| Ensembl Gene |
ENSMUSG00000051166 |
| Gene Name |
echinoderm microtubule associated protein like 5 |
| Synonyms |
C130068M19Rik |
| MMRRC Submission |
042024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.225)
|
| Stock # |
R4737 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
98786805-98901484 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98798852 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 1566
(V1566M)
|
| 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: V1566M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: V1566M
| 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: ENSMUST00000220676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221902
|
| Predicted Effect |
silent
Transcript: ENSMUST00000222097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222717
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223282
AA Change: V1613M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.2110 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (94/94) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430110L20Rik |
A |
G |
1: 181,227,819 (GRCm38) |
|
noncoding transcript |
Het |
| Acp2 |
A |
T |
2: 91,210,723 (GRCm38) |
R419W |
probably benign |
Het |
| Actr5 |
A |
G |
2: 158,628,071 (GRCm38) |
N207S |
probably damaging |
Het |
| Afap1 |
G |
A |
5: 35,961,782 (GRCm38) |
V254M |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,189,611 (GRCm38) |
M544K |
possibly damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,519,077 (GRCm38) |
M944L |
probably benign |
Het |
| Bnip3l-ps |
G |
A |
12: 18,216,772 (GRCm38) |
|
noncoding transcript |
Het |
| Carf |
A |
G |
1: 60,109,318 (GRCm38) |
T58A |
probably benign |
Het |
| Carns1 |
A |
G |
19: 4,170,928 (GRCm38) |
|
probably benign |
Het |
| Ccp110 |
T |
A |
7: 118,724,548 (GRCm38) |
I670K |
possibly damaging |
Het |
| Cftr |
T |
A |
6: 18,299,883 (GRCm38) |
D1218E |
probably benign |
Het |
| Chrna9 |
A |
T |
5: 65,967,871 (GRCm38) |
T52S |
probably damaging |
Het |
| Chst9 |
T |
C |
18: 15,452,777 (GRCm38) |
Y243C |
probably damaging |
Het |
| Clk2 |
A |
T |
3: 89,168,709 (GRCm38) |
H62L |
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 45,060,317 (GRCm38) |
R10W |
possibly damaging |
Het |
| Cpt1b |
C |
T |
15: 89,421,406 (GRCm38) |
D369N |
probably benign |
Het |
| Crhr2 |
G |
T |
6: 55,091,305 (GRCm38) |
H423Q |
probably damaging |
Het |
| D8Ertd738e |
T |
A |
8: 84,249,521 (GRCm38) |
I33F |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,539,132 (GRCm38) |
I200T |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,628,821 (GRCm38) |
|
probably benign |
Het |
| Ddx27 |
A |
G |
2: 167,029,299 (GRCm38) |
I480V |
probably benign |
Het |
| Dpp9 |
A |
C |
17: 56,198,970 (GRCm38) |
|
probably null |
Het |
| Dpy19l3 |
A |
T |
7: 35,703,501 (GRCm38) |
M562K |
probably damaging |
Het |
| Dus3l |
T |
C |
17: 56,767,868 (GRCm38) |
L330P |
probably damaging |
Het |
| Efcab7 |
C |
T |
4: 99,831,568 (GRCm38) |
Q96* |
probably null |
Het |
| Egfr |
T |
C |
11: 16,869,231 (GRCm38) |
F254L |
probably damaging |
Het |
| Entpd7 |
T |
A |
19: 43,691,195 (GRCm38) |
Y62* |
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,343,900 (GRCm38) |
M313V |
probably damaging |
Het |
| Gm5528 |
A |
G |
1: 72,004,552 (GRCm38) |
|
noncoding transcript |
Het |
| H2-M9 |
G |
T |
17: 36,640,739 (GRCm38) |
Y281* |
probably null |
Het |
| Hmcn1 |
T |
G |
1: 150,689,595 (GRCm38) |
K2260N |
possibly damaging |
Het |
| Hnf4a |
A |
G |
2: 163,564,219 (GRCm38) |
I259V |
probably benign |
Het |
| Ick |
A |
G |
9: 78,150,654 (GRCm38) |
T162A |
probably damaging |
Het |
| Insm1 |
A |
T |
2: 146,222,902 (GRCm38) |
T213S |
probably benign |
Het |
| Iqca |
T |
C |
1: 90,077,822 (GRCm38) |
D488G |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,406,015 (GRCm38) |
|
probably benign |
Het |
| Kdm7a |
G |
C |
6: 39,152,839 (GRCm38) |
L468V |
possibly damaging |
Het |
| Lck |
G |
A |
4: 129,555,984 (GRCm38) |
T229I |
possibly damaging |
Het |
| Lig3 |
T |
C |
11: 82,787,727 (GRCm38) |
L265P |
probably damaging |
Het |
| Lipa |
T |
A |
19: 34,501,634 (GRCm38) |
K229* |
probably null |
Het |
| Lrrk1 |
C |
T |
7: 66,306,873 (GRCm38) |
S418N |
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,281,232 (GRCm38) |
V126A |
probably damaging |
Het |
| Met |
T |
C |
6: 17,491,541 (GRCm38) |
C101R |
probably damaging |
Het |
| Mkln1 |
A |
T |
6: 31,426,799 (GRCm38) |
K85M |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 108,080,521 (GRCm38) |
R15G |
probably benign |
Het |
| Muc6 |
T |
G |
7: 141,640,159 (GRCm38) |
|
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,638,772 (GRCm38) |
T1996N |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 31,998,602 (GRCm38) |
S514G |
probably damaging |
Het |
| Narfl |
A |
T |
17: 25,781,309 (GRCm38) |
H322L |
probably damaging |
Het |
| Nars |
T |
C |
18: 64,516,427 (GRCm38) |
E11G |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,297,044 (GRCm38) |
F23I |
probably benign |
Het |
| Olfr1121 |
T |
C |
2: 87,372,321 (GRCm38) |
I263T |
probably damaging |
Het |
| Olfr1186 |
C |
T |
2: 88,526,225 (GRCm38) |
S214F |
probably damaging |
Het |
| Olfr1238 |
C |
T |
2: 89,406,486 (GRCm38) |
V198I |
probably benign |
Het |
| Olfr1272 |
A |
G |
2: 90,282,381 (GRCm38) |
S65P |
probably damaging |
Het |
| Olfr584 |
C |
T |
7: 103,085,914 (GRCm38) |
A127V |
probably damaging |
Het |
| Olfr825 |
T |
A |
10: 130,162,838 (GRCm38) |
T163S |
probably benign |
Het |
| Olfr979 |
A |
T |
9: 40,000,422 (GRCm38) |
D268E |
probably damaging |
Het |
| Otub2 |
T |
A |
12: 103,392,844 (GRCm38) |
L64Q |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,957,012 (GRCm38) |
R143G |
probably benign |
Het |
| Patl2 |
T |
A |
2: 122,125,306 (GRCm38) |
T250S |
probably damaging |
Het |
| Pcdhac2 |
C |
T |
18: 37,145,899 (GRCm38) |
T644I |
possibly damaging |
Het |
| Pi4kb |
C |
T |
3: 95,004,338 (GRCm38) |
T690I |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,266,790 (GRCm38) |
Y776C |
probably benign |
Het |
| Plekhh2 |
C |
T |
17: 84,563,959 (GRCm38) |
S215L |
probably benign |
Het |
| Psmd2 |
T |
G |
16: 20,659,815 (GRCm38) |
|
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,708,844 (GRCm38) |
E183G |
probably benign |
Het |
| Ptprg |
T |
A |
14: 12,226,314 (GRCm38) |
D527E |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,279,497 (GRCm38) |
|
probably null |
Het |
| Scel |
T |
A |
14: 103,572,037 (GRCm38) |
M271K |
possibly damaging |
Het |
| Senp3 |
A |
T |
11: 69,678,829 (GRCm38) |
C310* |
probably null |
Het |
| Slc25a3 |
T |
C |
10: 91,122,188 (GRCm38) |
T97A |
possibly damaging |
Het |
| Srsf11 |
A |
T |
3: 158,026,732 (GRCm38) |
Y82* |
probably null |
Het |
| Tbc1d8 |
G |
A |
1: 39,402,878 (GRCm38) |
T211I |
possibly damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,148,648 (GRCm38) |
E145G |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,540,588 (GRCm38) |
N1471S |
probably benign |
Het |
| Tnn |
T |
G |
1: 160,146,089 (GRCm38) |
D236A |
probably damaging |
Het |
| Trmt2a |
C |
T |
16: 18,251,286 (GRCm38) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Ubxn10 |
G |
A |
4: 138,735,948 (GRCm38) |
|
probably benign |
Het |
| Ulk4 |
G |
A |
9: 121,073,872 (GRCm38) |
Q1180* |
probably null |
Het |
| Usp43 |
T |
A |
11: 67,855,505 (GRCm38) |
K1120N |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,194,339 (GRCm38) |
L244Q |
possibly damaging |
Het |
| Vmn1r32 |
T |
C |
6: 66,553,645 (GRCm38) |
H49R |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,409,963 (GRCm38) |
D118G |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,650,579 (GRCm38) |
I468V |
probably benign |
Het |
| Zbtb7c |
G |
T |
18: 76,146,154 (GRCm38) |
R561L |
probably benign |
Het |
| Zfp956 |
T |
C |
6: 47,962,542 (GRCm38) |
S175P |
probably damaging |
Het |
|
| Other mutations in Eml5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Eml5
|
APN |
12 |
98,873,209 (GRCm38) |
splice site |
probably benign |
|
|
IGL00473:Eml5
|
APN |
12 |
98,805,492 (GRCm38) |
splice site |
probably benign |
|
|
IGL01120:Eml5
|
APN |
12 |
98,844,019 (GRCm38) |
missense |
probably benign |
|
|
IGL01308:Eml5
|
APN |
12 |
98,802,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01790:Eml5
|
APN |
12 |
98,798,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01973:Eml5
|
APN |
12 |
98,863,280 (GRCm38) |
missense |
probably benign |
|
|
IGL02182:Eml5
|
APN |
12 |
98,802,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02201:Eml5
|
APN |
12 |
98,794,424 (GRCm38) |
splice site |
probably benign |
|
|
IGL02375:Eml5
|
APN |
12 |
98,844,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02397:Eml5
|
APN |
12 |
98,790,674 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02480:Eml5
|
APN |
12 |
98,876,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02801:Eml5
|
APN |
12 |
98,817,845 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL02876:Eml5
|
APN |
12 |
98,858,841 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03104:Eml5
|
APN |
12 |
98,861,245 (GRCm38) |
nonsense |
probably null |
|
|
IGL03158:Eml5
|
APN |
12 |
98,827,514 (GRCm38) |
splice site |
probably benign |
|
|
IGL03286:Eml5
|
APN |
12 |
98,860,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03380:Eml5
|
APN |
12 |
98,874,647 (GRCm38) |
splice site |
probably benign |
|
|
BB010:Eml5
|
UTSW |
12 |
98,844,020 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
BB020:Eml5
|
UTSW |
12 |
98,844,020 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0573:Eml5
|
UTSW |
12 |
98,824,772 (GRCm38) |
splice site |
probably null |
|
|
R0624:Eml5
|
UTSW |
12 |
98,865,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0993:Eml5
|
UTSW |
12 |
98,861,183 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1073:Eml5
|
UTSW |
12 |
98,830,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1183:Eml5
|
UTSW |
12 |
98,792,046 (GRCm38) |
missense |
probably benign |
0.31 |
|
R1352:Eml5
|
UTSW |
12 |
98,831,003 (GRCm38) |
splice site |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,858,823 (GRCm38) |
missense |
probably benign |
|
|
R1469:Eml5
|
UTSW |
12 |
98,858,823 (GRCm38) |
missense |
probably benign |
|
|
R1503:Eml5
|
UTSW |
12 |
98,831,174 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1538:Eml5
|
UTSW |
12 |
98,794,276 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1689:Eml5
|
UTSW |
12 |
98,830,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1773:Eml5
|
UTSW |
12 |
98,798,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1775:Eml5
|
UTSW |
12 |
98,852,704 (GRCm38) |
splice site |
probably null |
|
|
R1791:Eml5
|
UTSW |
12 |
98,887,056 (GRCm38) |
missense |
probably benign |
0.31 |
|
R1856:Eml5
|
UTSW |
12 |
98,810,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1919:Eml5
|
UTSW |
12 |
98,798,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1957:Eml5
|
UTSW |
12 |
98,859,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1962:Eml5
|
UTSW |
12 |
98,876,311 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2033:Eml5
|
UTSW |
12 |
98,791,386 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2035:Eml5
|
UTSW |
12 |
98,794,266 (GRCm38) |
missense |
probably benign |
0.33 |
|
R2073:Eml5
|
UTSW |
12 |
98,802,446 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2143:Eml5
|
UTSW |
12 |
98,810,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2144:Eml5
|
UTSW |
12 |
98,810,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2158:Eml5
|
UTSW |
12 |
98,843,946 (GRCm38) |
splice site |
probably benign |
|
|
R2164:Eml5
|
UTSW |
12 |
98,887,097 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2175:Eml5
|
UTSW |
12 |
98,876,223 (GRCm38) |
nonsense |
probably null |
|
|
R2200:Eml5
|
UTSW |
12 |
98,825,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2234:Eml5
|
UTSW |
12 |
98,841,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2504:Eml5
|
UTSW |
12 |
98,844,105 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2871:Eml5
|
UTSW |
12 |
98,865,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2871:Eml5
|
UTSW |
12 |
98,865,401 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2958:Eml5
|
UTSW |
12 |
98,876,178 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3013:Eml5
|
UTSW |
12 |
98,880,808 (GRCm38) |
splice site |
probably null |
|
|
R3118:Eml5
|
UTSW |
12 |
98,865,494 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3735:Eml5
|
UTSW |
12 |
98,855,989 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R3856:Eml5
|
UTSW |
12 |
98,816,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3900:Eml5
|
UTSW |
12 |
98,825,523 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3973:Eml5
|
UTSW |
12 |
98,802,465 (GRCm38) |
splice site |
probably benign |
|
|
R3976:Eml5
|
UTSW |
12 |
98,802,465 (GRCm38) |
splice site |
probably benign |
|
|
R4105:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4107:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4108:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4109:Eml5
|
UTSW |
12 |
98,841,548 (GRCm38) |
splice site |
probably null |
|
|
R4258:Eml5
|
UTSW |
12 |
98,865,434 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4381:Eml5
|
UTSW |
12 |
98,815,955 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4590:Eml5
|
UTSW |
12 |
98,837,341 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4775:Eml5
|
UTSW |
12 |
98,802,307 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4850:Eml5
|
UTSW |
12 |
98,790,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5007:Eml5
|
UTSW |
12 |
98,830,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5092:Eml5
|
UTSW |
12 |
98,792,616 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5123:Eml5
|
UTSW |
12 |
98,874,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5124:Eml5
|
UTSW |
12 |
98,792,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5273:Eml5
|
UTSW |
12 |
98,790,688 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5369:Eml5
|
UTSW |
12 |
98,858,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5430:Eml5
|
UTSW |
12 |
98,794,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5748:Eml5
|
UTSW |
12 |
98,825,555 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5769:Eml5
|
UTSW |
12 |
98,790,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5832:Eml5
|
UTSW |
12 |
98,876,188 (GRCm38) |
missense |
probably benign |
|
|
R6113:Eml5
|
UTSW |
12 |
98,824,674 (GRCm38) |
nonsense |
probably null |
|
|
R6131:Eml5
|
UTSW |
12 |
98,861,251 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6175:Eml5
|
UTSW |
12 |
98,794,456 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6184:Eml5
|
UTSW |
12 |
98,863,129 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6357:Eml5
|
UTSW |
12 |
98,870,884 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6375:Eml5
|
UTSW |
12 |
98,798,868 (GRCm38) |
|
|
|
|
R6528:Eml5
|
UTSW |
12 |
98,824,637 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6657:Eml5
|
UTSW |
12 |
98,791,405 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6717:Eml5
|
UTSW |
12 |
98,827,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6751:Eml5
|
UTSW |
12 |
98,865,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6833:Eml5
|
UTSW |
12 |
98,887,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6834:Eml5
|
UTSW |
12 |
98,887,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6972:Eml5
|
UTSW |
12 |
98,876,180 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7091:Eml5
|
UTSW |
12 |
98,802,474 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7353:Eml5
|
UTSW |
12 |
98,825,424 (GRCm38) |
missense |
|
|
|
R7644:Eml5
|
UTSW |
12 |
98,855,944 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7694:Eml5
|
UTSW |
12 |
98,792,563 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7842:Eml5
|
UTSW |
12 |
98,794,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7933:Eml5
|
UTSW |
12 |
98,844,020 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8111:Eml5
|
UTSW |
12 |
98,792,514 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8198:Eml5
|
UTSW |
12 |
98,858,886 (GRCm38) |
nonsense |
probably null |
|
|
R8482:Eml5
|
UTSW |
12 |
98,876,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8732:Eml5
|
UTSW |
12 |
98,815,959 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8956:Eml5
|
UTSW |
12 |
98,852,693 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8975:Eml5
|
UTSW |
12 |
98,810,570 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9131:Eml5
|
UTSW |
12 |
98,858,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9258:Eml5
|
UTSW |
12 |
98,844,117 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9261:Eml5
|
UTSW |
12 |
98,856,028 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9276:Eml5
|
UTSW |
12 |
98,798,801 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9301:Eml5
|
UTSW |
12 |
98,882,033 (GRCm38) |
nonsense |
probably null |
|
|
R9368:Eml5
|
UTSW |
12 |
98,796,578 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9392:Eml5
|
UTSW |
12 |
98,900,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9393:Eml5
|
UTSW |
12 |
98,876,174 (GRCm38) |
missense |
probably benign |
0.35 |
|
R9449:Eml5
|
UTSW |
12 |
98,861,295 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9570:Eml5
|
UTSW |
12 |
98,815,984 (GRCm38) |
missense |
probably benign |
0.15 |
|
T0722:Eml5
|
UTSW |
12 |
98,841,582 (GRCm38) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCAGAGAATCCAGAGTCTACACAG -3'
(R):5'- GCATTCCACCCACATAGAGG -3'
Sequencing Primer
(F):5'- TCCAGAGTCTACACAGATAACAATG -3'
(R):5'- CCCACATAGAGGATGACATCTGTG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation