Incidental Mutation 'R4888:Etl4'
| ID |
377043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etl4
|
| Ensembl Gene |
ENSMUSG00000036617 |
| Gene Name |
enhancer trap locus 4 |
| Synonyms |
6620402G01Rik, Sickle tail, E330027G05Rik, Etl-4, Skt, 9430077C05Rik |
| MMRRC Submission |
042493-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
R4888 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
19915018-20815346 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 20344922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114610]
[ENSMUST00000114627]
[ENSMUST00000131714]
[ENSMUST00000146881]
|
| AlphaFold |
A2AQ25 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114610
|
| SMART Domains |
Protein: ENSMUSP00000110257
Gene: ENSMUSG00000036617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIP3
|
108 |
211 |
5e-12 |
PFAM |
|
low complexity region
|
233 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
288 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114627
|
| SMART Domains |
Protein: ENSMUSP00000110274
Gene: ENSMUSG00000036617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
Pfam:AIP3
|
239 |
341 |
2.4e-14 |
PFAM |
|
low complexity region
|
364 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
419 |
N/A |
INTRINSIC |
|
Pfam:AIP3
|
600 |
841 |
1.1e-12 |
PFAM |
|
low complexity region
|
1153 |
1182 |
N/A |
INTRINSIC |
|
low complexity region
|
1423 |
1432 |
N/A |
INTRINSIC |
|
low complexity region
|
1521 |
1546 |
N/A |
INTRINSIC |
|
low complexity region
|
1622 |
1633 |
N/A |
INTRINSIC |
|
coiled coil region
|
1709 |
1737 |
N/A |
INTRINSIC |
|
low complexity region
|
1775 |
1788 |
N/A |
INTRINSIC |
|
low complexity region
|
1857 |
1876 |
N/A |
INTRINSIC |
|
low complexity region
|
1941 |
1959 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131714
|
| SMART Domains |
Protein: ENSMUSP00000116637
Gene: ENSMUSG00000036617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
69 |
N/A |
INTRINSIC |
|
Blast:THAP
|
137 |
167 |
3e-6 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146881
|
| SMART Domains |
Protein: ENSMUSP00000119778
Gene: ENSMUSG00000036617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
Blast:THAP
|
140 |
170 |
6e-6 |
BLAST |
|
| Meta Mutation Damage Score |
0.8609 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
99% (150/151) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene-trapped allele display malformations of the notochord and caudal vertebrae and may exhibit caudal tail kinks. Mice homozygous for another gene-trapped allele have malformed caudal vertebrae and intervertebral disk abnormalities; about half display kinked tails. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 139 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931403M11Rik |
C |
A |
14: 24,671,419 (GRCm39) |
|
noncoding transcript |
Het |
| Abca7 |
A |
G |
10: 79,838,562 (GRCm39) |
K612R |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,223,822 (GRCm39) |
V275A |
possibly damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,215,065 (GRCm39) |
|
probably null |
Het |
| Ajm1 |
G |
A |
2: 25,469,759 (GRCm39) |
R51C |
possibly damaging |
Het |
| Alcam |
T |
A |
16: 52,089,176 (GRCm39) |
H508L |
probably benign |
Het |
| Ankrd45 |
G |
A |
1: 160,982,942 (GRCm39) |
R151H |
probably damaging |
Het |
| Aqr |
G |
A |
2: 113,980,990 (GRCm39) |
L264F |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,677,533 (GRCm39) |
A53T |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,236,880 (GRCm39) |
T1085A |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,435,055 (GRCm39) |
V314A |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,187,627 (GRCm39) |
D1580G |
probably benign |
Het |
| Btbd17 |
T |
A |
11: 114,684,917 (GRCm39) |
T41S |
possibly damaging |
Het |
| Cacna1c |
T |
C |
6: 118,728,400 (GRCm39) |
N378S |
probably damaging |
Het |
| Camsap1 |
G |
T |
2: 25,825,562 (GRCm39) |
Q1375K |
probably benign |
Het |
| Catsper2 |
G |
T |
2: 121,227,604 (GRCm39) |
|
probably null |
Het |
| Cblif |
A |
G |
19: 11,729,583 (GRCm39) |
T181A |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,588,997 (GRCm39) |
S829P |
unknown |
Het |
| Ccdc180 |
T |
C |
4: 45,909,308 (GRCm39) |
L492P |
probably damaging |
Het |
| Ccser2 |
A |
T |
14: 36,662,343 (GRCm39) |
N280K |
probably damaging |
Het |
| Cd37 |
T |
C |
7: 44,883,359 (GRCm39) |
D271G |
probably damaging |
Het |
| Cdcp1 |
G |
A |
9: 123,011,194 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
T |
C |
19: 21,833,528 (GRCm39) |
V1322A |
probably benign |
Het |
| Cep85 |
T |
A |
4: 133,892,062 (GRCm39) |
|
probably benign |
Het |
| Cfi |
C |
T |
3: 129,666,726 (GRCm39) |
P483L |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 15,945,674 (GRCm39) |
|
probably benign |
Het |
| Cytl1 |
G |
T |
5: 37,892,918 (GRCm39) |
L9F |
unknown |
Het |
| Defb26 |
T |
C |
2: 152,350,085 (GRCm39) |
E65G |
possibly damaging |
Het |
| Degs1 |
G |
A |
1: 182,104,370 (GRCm39) |
T305I |
probably damaging |
Het |
| Dnttip2 |
T |
G |
3: 122,070,241 (GRCm39) |
C485W |
probably damaging |
Het |
| Ecel1 |
G |
A |
1: 87,076,449 (GRCm39) |
|
probably benign |
Het |
| Edrf1 |
G |
T |
7: 133,260,339 (GRCm39) |
M83I |
probably damaging |
Het |
| Elmo2 |
A |
T |
2: 165,137,209 (GRCm39) |
C562S |
probably benign |
Het |
| F2r |
A |
C |
13: 95,740,905 (GRCm39) |
V210G |
probably damaging |
Het |
| Fam171a1 |
T |
A |
2: 3,224,546 (GRCm39) |
V179E |
probably damaging |
Het |
| Fmod |
G |
T |
1: 133,967,977 (GRCm39) |
V6F |
possibly damaging |
Het |
| Foxr2 |
A |
G |
X: 151,913,312 (GRCm39) |
Q61R |
probably damaging |
Het |
| Gabra4 |
G |
A |
5: 71,729,546 (GRCm39) |
H76Y |
probably benign |
Het |
| Gck |
A |
T |
11: 5,859,150 (GRCm39) |
M139K |
possibly damaging |
Het |
| Gm10192 |
C |
G |
4: 97,071,345 (GRCm39) |
S20T |
probably null |
Het |
| Gm44501 |
T |
C |
17: 40,887,515 (GRCm39) |
L11P |
unknown |
Het |
| Gm572 |
T |
C |
4: 148,751,302 (GRCm39) |
|
probably null |
Het |
| Gnas |
A |
G |
2: 174,139,882 (GRCm39) |
K17R |
possibly damaging |
Het |
| Grm2 |
T |
A |
9: 106,527,865 (GRCm39) |
S340C |
probably damaging |
Het |
| Gsc |
T |
A |
12: 104,438,274 (GRCm39) |
H198L |
probably damaging |
Het |
| H2-Q3 |
A |
T |
17: 35,578,424 (GRCm39) |
|
noncoding transcript |
Het |
| H4c1 |
T |
C |
13: 23,944,935 (GRCm39) |
D69G |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,980,131 (GRCm39) |
E1723G |
probably damaging |
Het |
| Hk3 |
A |
T |
13: 55,154,405 (GRCm39) |
L757Q |
probably damaging |
Het |
| Homer2 |
A |
T |
7: 81,299,311 (GRCm39) |
D51E |
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,027,227 (GRCm39) |
|
probably benign |
Het |
| Itch |
T |
A |
2: 155,059,897 (GRCm39) |
|
probably null |
Het |
| Kalrn |
T |
A |
16: 33,991,700 (GRCm39) |
Q974L |
probably damaging |
Het |
| Kirrel3 |
G |
T |
9: 34,924,601 (GRCm39) |
G296W |
probably damaging |
Het |
| Klhl17 |
A |
G |
4: 156,315,082 (GRCm39) |
V525A |
probably benign |
Het |
| Klhl9 |
T |
C |
4: 88,640,182 (GRCm39) |
K20E |
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,732,977 (GRCm39) |
|
probably benign |
Het |
| Krt17 |
C |
A |
11: 100,147,305 (GRCm39) |
V409L |
probably benign |
Het |
| Lmx1b |
T |
C |
2: 33,454,802 (GRCm39) |
N322S |
probably benign |
Het |
| Lrrc63 |
G |
C |
14: 75,363,406 (GRCm39) |
P242A |
probably benign |
Het |
| Ltk |
T |
C |
2: 119,583,708 (GRCm39) |
N256D |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,745,470 (GRCm39) |
E1328V |
probably damaging |
Het |
| Map4k2 |
C |
T |
19: 6,394,033 (GRCm39) |
A280V |
probably benign |
Het |
| Micall1 |
C |
T |
15: 79,016,048 (GRCm39) |
R802* |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,673,662 (GRCm39) |
R109G |
probably damaging |
Het |
| Mmp27 |
A |
T |
9: 7,581,369 (GRCm39) |
H544L |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,440,434 (GRCm39) |
T631A |
probably damaging |
Het |
| Mpnd |
A |
G |
17: 56,318,641 (GRCm39) |
M217V |
probably benign |
Het |
| Mrc2 |
T |
C |
11: 105,232,034 (GRCm39) |
V862A |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,058,154 (GRCm39) |
S1239T |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,002,137 (GRCm39) |
M616L |
probably benign |
Het |
| Myo18b |
A |
T |
5: 113,022,346 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
C |
A |
11: 75,560,053 (GRCm39) |
T703N |
probably damaging |
Het |
| Myt1l |
T |
G |
12: 29,936,138 (GRCm39) |
C909G |
unknown |
Het |
| Nbea |
T |
C |
3: 55,912,776 (GRCm39) |
S1004G |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,186,319 (GRCm39) |
N918D |
probably benign |
Het |
| Nrtn |
T |
C |
17: 57,058,636 (GRCm39) |
T122A |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,188,939 (GRCm39) |
S1042C |
probably damaging |
Het |
| Ntmt2 |
A |
T |
1: 163,530,633 (GRCm39) |
C269S |
probably benign |
Het |
| Nvl |
A |
G |
1: 180,945,191 (GRCm39) |
L461S |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,473,998 (GRCm39) |
H183L |
possibly damaging |
Het |
| Or13p5 |
A |
C |
4: 118,591,885 (GRCm39) |
H53P |
probably benign |
Het |
| Or2h2 |
G |
A |
17: 37,396,343 (GRCm39) |
T238I |
probably damaging |
Het |
| Or4d10 |
C |
G |
19: 12,051,679 (GRCm39) |
G106R |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,705,689 (GRCm39) |
T79A |
possibly damaging |
Het |
| Or5c1 |
T |
G |
2: 37,222,601 (GRCm39) |
F281V |
probably damaging |
Het |
| Or6c1b |
A |
C |
10: 129,273,248 (GRCm39) |
D189A |
possibly damaging |
Het |
| Or6z5 |
A |
T |
7: 6,477,612 (GRCm39) |
I168F |
probably damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,130 (GRCm39) |
V420F |
possibly damaging |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,286 (GRCm39) |
G760D |
probably benign |
Het |
| Pglyrp2 |
G |
A |
17: 32,637,771 (GRCm39) |
P86S |
probably benign |
Het |
| Phyhip |
T |
A |
14: 70,704,765 (GRCm39) |
V328E |
probably damaging |
Het |
| Pitpnb |
A |
T |
5: 111,530,862 (GRCm39) |
K218N |
possibly damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,628,596 (GRCm39) |
D963G |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,258,792 (GRCm39) |
Y699C |
probably damaging |
Het |
| Pmpcb |
T |
A |
5: 21,945,660 (GRCm39) |
|
probably benign |
Het |
| Polg |
A |
T |
7: 79,114,353 (GRCm39) |
W203R |
probably damaging |
Het |
| Pramel22 |
A |
G |
4: 143,380,971 (GRCm39) |
S351P |
probably benign |
Het |
| Prss41 |
A |
T |
17: 24,055,977 (GRCm39) |
M252K |
probably benign |
Het |
| Prss46 |
A |
T |
9: 110,673,618 (GRCm39) |
M1L |
possibly damaging |
Het |
| Rimklb |
T |
C |
6: 122,441,051 (GRCm39) |
|
probably null |
Het |
| Rngtt |
T |
C |
4: 33,500,335 (GRCm39) |
I556T |
unknown |
Het |
| Rock1 |
A |
C |
18: 10,122,698 (GRCm39) |
D374E |
probably benign |
Het |
| Rspry1 |
C |
A |
8: 95,385,417 (GRCm39) |
H450N |
probably benign |
Het |
| Rusc2 |
T |
C |
4: 43,423,942 (GRCm39) |
V1032A |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,449,647 (GRCm39) |
R3898G |
probably damaging |
Het |
| Scnn1b |
A |
T |
7: 121,502,110 (GRCm39) |
H256L |
probably benign |
Het |
| Sh3gl2 |
T |
A |
4: 85,297,494 (GRCm39) |
H157Q |
probably benign |
Het |
| Sipa1l1 |
C |
A |
12: 82,389,107 (GRCm39) |
S444R |
probably damaging |
Het |
| Sntg1 |
T |
A |
1: 8,433,818 (GRCm39) |
I478F |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,722,628 (GRCm39) |
Y851H |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,655,811 (GRCm39) |
L1424M |
probably benign |
Het |
| Sry |
T |
A |
Y: 2,663,105 (GRCm39) |
H185L |
unknown |
Het |
| Stox2 |
T |
G |
8: 47,656,198 (GRCm39) |
T93P |
probably damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,681,566 (GRCm39) |
F472Y |
possibly damaging |
Het |
| Tefm |
A |
T |
11: 80,031,185 (GRCm39) |
V17D |
possibly damaging |
Het |
| Tekt2 |
G |
T |
4: 126,218,460 (GRCm39) |
T70N |
probably benign |
Het |
| Ticam1 |
T |
C |
17: 56,578,642 (GRCm39) |
D151G |
probably damaging |
Het |
| Tmem63c |
A |
G |
12: 87,136,139 (GRCm39) |
E785G |
probably damaging |
Het |
| Tnmd |
A |
T |
X: 132,765,551 (GRCm39) |
N219I |
probably benign |
Het |
| Ttc14 |
T |
A |
3: 33,861,024 (GRCm39) |
L407* |
probably null |
Het |
| Ttll7 |
T |
C |
3: 146,599,932 (GRCm39) |
M1T |
probably null |
Het |
| Ttn |
T |
A |
2: 76,746,835 (GRCm39) |
|
probably null |
Het |
| Uchl1 |
T |
C |
5: 66,833,780 (GRCm39) |
M12T |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,315,062 (GRCm39) |
|
probably null |
Het |
| Uggt2 |
T |
C |
14: 119,286,665 (GRCm39) |
T224A |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,218,175 (GRCm39) |
E1254G |
probably damaging |
Het |
| Unc5d |
A |
G |
8: 29,156,927 (GRCm39) |
F773L |
probably benign |
Het |
| Unc80 |
C |
A |
1: 66,683,606 (GRCm39) |
P2216Q |
probably damaging |
Het |
| Usp40 |
T |
A |
1: 87,913,923 (GRCm39) |
|
probably null |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,421 (GRCm39) |
M209K |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,380,985 (GRCm39) |
W303R |
probably benign |
Het |
| Wnk2 |
G |
A |
13: 49,224,478 (GRCm39) |
R268C |
probably damaging |
Het |
| Wnt2 |
T |
C |
6: 18,023,125 (GRCm39) |
K175E |
possibly damaging |
Het |
| Xkr6 |
T |
C |
14: 64,056,953 (GRCm39) |
V288A |
unknown |
Het |
| Zfp125 |
A |
G |
12: 20,950,459 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp512b |
A |
C |
2: 181,228,856 (GRCm39) |
V703G |
probably damaging |
Het |
| Zglp1 |
A |
T |
9: 20,973,957 (GRCm39) |
I243N |
probably benign |
Het |
| Zgpat |
T |
C |
2: 181,020,651 (GRCm39) |
S275P |
probably benign |
Het |
|
| Other mutations in Etl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Etl4
|
APN |
2 |
20,771,289 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL00944:Etl4
|
APN |
2 |
20,534,865 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01078:Etl4
|
APN |
2 |
20,811,342 (GRCm39) |
nonsense |
probably null |
|
|
IGL01099:Etl4
|
APN |
2 |
20,811,922 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01337:Etl4
|
APN |
2 |
20,790,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01348:Etl4
|
APN |
2 |
20,811,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01349:Etl4
|
APN |
2 |
20,718,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01407:Etl4
|
APN |
2 |
20,748,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01552:Etl4
|
APN |
2 |
20,783,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01662:Etl4
|
APN |
2 |
20,811,460 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01687:Etl4
|
APN |
2 |
20,534,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01793:Etl4
|
APN |
2 |
20,748,709 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01844:Etl4
|
APN |
2 |
20,811,493 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02025:Etl4
|
APN |
2 |
20,811,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02088:Etl4
|
APN |
2 |
20,811,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02134:Etl4
|
APN |
2 |
20,811,240 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02369:Etl4
|
APN |
2 |
20,535,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02480:Etl4
|
APN |
2 |
20,793,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02560:Etl4
|
APN |
2 |
20,748,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02851:Etl4
|
APN |
2 |
20,812,840 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02893:Etl4
|
APN |
2 |
20,765,021 (GRCm39) |
splice site |
probably benign |
|
|
IGL02951:Etl4
|
APN |
2 |
20,806,348 (GRCm39) |
splice site |
probably benign |
|
|
IGL03119:Etl4
|
APN |
2 |
20,718,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03267:Etl4
|
APN |
2 |
20,789,993 (GRCm39) |
nonsense |
probably null |
|
|
IGL03379:Etl4
|
APN |
2 |
20,666,827 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0038:Etl4
|
UTSW |
2 |
20,748,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0038:Etl4
|
UTSW |
2 |
20,748,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0095:Etl4
|
UTSW |
2 |
20,748,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Etl4
|
UTSW |
2 |
20,344,716 (GRCm39) |
missense |
probably benign |
|
|
R0311:Etl4
|
UTSW |
2 |
20,811,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Etl4
|
UTSW |
2 |
20,764,463 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0348:Etl4
|
UTSW |
2 |
20,782,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Etl4
|
UTSW |
2 |
20,812,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0571:Etl4
|
UTSW |
2 |
20,748,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0697:Etl4
|
UTSW |
2 |
20,748,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0707:Etl4
|
UTSW |
2 |
20,810,382 (GRCm39) |
splice site |
probably benign |
|
|
R0980:Etl4
|
UTSW |
2 |
20,806,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1120:Etl4
|
UTSW |
2 |
20,811,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1254:Etl4
|
UTSW |
2 |
20,812,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1346:Etl4
|
UTSW |
2 |
20,810,955 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1460:Etl4
|
UTSW |
2 |
20,793,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Etl4
|
UTSW |
2 |
20,748,685 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1547:Etl4
|
UTSW |
2 |
20,790,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Etl4
|
UTSW |
2 |
20,806,390 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1635:Etl4
|
UTSW |
2 |
20,811,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Etl4
|
UTSW |
2 |
20,748,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Etl4
|
UTSW |
2 |
20,812,837 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1885:Etl4
|
UTSW |
2 |
20,748,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2039:Etl4
|
UTSW |
2 |
20,790,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2083:Etl4
|
UTSW |
2 |
20,748,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:Etl4
|
UTSW |
2 |
20,790,153 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2153:Etl4
|
UTSW |
2 |
20,803,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2403:Etl4
|
UTSW |
2 |
20,812,117 (GRCm39) |
nonsense |
probably null |
|
|
R2883:Etl4
|
UTSW |
2 |
20,810,985 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2985:Etl4
|
UTSW |
2 |
20,786,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3402:Etl4
|
UTSW |
2 |
20,786,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3696:Etl4
|
UTSW |
2 |
20,806,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3755:Etl4
|
UTSW |
2 |
20,748,348 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3813:Etl4
|
UTSW |
2 |
20,793,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3829:Etl4
|
UTSW |
2 |
20,790,232 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3887:Etl4
|
UTSW |
2 |
20,534,772 (GRCm39) |
nonsense |
probably null |
|
|
R3888:Etl4
|
UTSW |
2 |
20,534,772 (GRCm39) |
nonsense |
probably null |
|
|
R3889:Etl4
|
UTSW |
2 |
20,534,772 (GRCm39) |
nonsense |
probably null |
|
|
R3958:Etl4
|
UTSW |
2 |
20,344,854 (GRCm39) |
missense |
probably benign |
|
|
R3959:Etl4
|
UTSW |
2 |
20,344,854 (GRCm39) |
missense |
probably benign |
|
|
R3960:Etl4
|
UTSW |
2 |
20,344,854 (GRCm39) |
missense |
probably benign |
|
|
R4058:Etl4
|
UTSW |
2 |
20,810,830 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4074:Etl4
|
UTSW |
2 |
20,814,030 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4077:Etl4
|
UTSW |
2 |
20,812,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Etl4
|
UTSW |
2 |
20,812,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Etl4
|
UTSW |
2 |
20,748,886 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4200:Etl4
|
UTSW |
2 |
20,786,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4492:Etl4
|
UTSW |
2 |
20,811,676 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4514:Etl4
|
UTSW |
2 |
20,666,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Etl4
|
UTSW |
2 |
20,811,496 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4825:Etl4
|
UTSW |
2 |
20,811,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Etl4
|
UTSW |
2 |
20,803,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4943:Etl4
|
UTSW |
2 |
20,812,092 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5121:Etl4
|
UTSW |
2 |
20,344,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5191:Etl4
|
UTSW |
2 |
20,344,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5198:Etl4
|
UTSW |
2 |
20,718,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5199:Etl4
|
UTSW |
2 |
20,748,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Etl4
|
UTSW |
2 |
20,534,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5513:Etl4
|
UTSW |
2 |
20,748,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5620:Etl4
|
UTSW |
2 |
20,535,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Etl4
|
UTSW |
2 |
20,811,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Etl4
|
UTSW |
2 |
20,811,273 (GRCm39) |
frame shift |
probably null |
|
|
R5690:Etl4
|
UTSW |
2 |
20,810,647 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5784:Etl4
|
UTSW |
2 |
20,811,016 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5794:Etl4
|
UTSW |
2 |
20,811,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5908:Etl4
|
UTSW |
2 |
20,748,718 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5982:Etl4
|
UTSW |
2 |
20,785,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Etl4
|
UTSW |
2 |
20,718,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Etl4
|
UTSW |
2 |
20,806,362 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6238:Etl4
|
UTSW |
2 |
20,806,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Etl4
|
UTSW |
2 |
20,813,900 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6292:Etl4
|
UTSW |
2 |
20,748,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:Etl4
|
UTSW |
2 |
20,718,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6739:Etl4
|
UTSW |
2 |
20,718,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6846:Etl4
|
UTSW |
2 |
20,748,919 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6863:Etl4
|
UTSW |
2 |
20,811,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6873:Etl4
|
UTSW |
2 |
20,802,803 (GRCm39) |
splice site |
probably null |
|
|
R7003:Etl4
|
UTSW |
2 |
20,810,695 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7155:Etl4
|
UTSW |
2 |
20,811,742 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7207:Etl4
|
UTSW |
2 |
20,714,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7230:Etl4
|
UTSW |
2 |
20,802,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Etl4
|
UTSW |
2 |
20,714,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7389:Etl4
|
UTSW |
2 |
20,789,904 (GRCm39) |
nonsense |
probably null |
|
|
R7396:Etl4
|
UTSW |
2 |
20,803,449 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7441:Etl4
|
UTSW |
2 |
20,749,000 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7626:Etl4
|
UTSW |
2 |
20,718,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Etl4
|
UTSW |
2 |
20,811,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7779:Etl4
|
UTSW |
2 |
20,714,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Etl4
|
UTSW |
2 |
20,786,757 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7851:Etl4
|
UTSW |
2 |
20,748,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Etl4
|
UTSW |
2 |
20,810,721 (GRCm39) |
missense |
probably benign |
|
|
R7901:Etl4
|
UTSW |
2 |
20,294,821 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8053:Etl4
|
UTSW |
2 |
20,666,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8124:Etl4
|
UTSW |
2 |
20,811,451 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8133:Etl4
|
UTSW |
2 |
20,811,082 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8203:Etl4
|
UTSW |
2 |
20,789,916 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8238:Etl4
|
UTSW |
2 |
20,811,342 (GRCm39) |
nonsense |
probably null |
|
|
R8263:Etl4
|
UTSW |
2 |
20,748,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8299:Etl4
|
UTSW |
2 |
20,748,874 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8318:Etl4
|
UTSW |
2 |
20,793,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Etl4
|
UTSW |
2 |
20,785,857 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8443:Etl4
|
UTSW |
2 |
20,810,977 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8525:Etl4
|
UTSW |
2 |
20,534,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Etl4
|
UTSW |
2 |
20,714,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8918:Etl4
|
UTSW |
2 |
20,811,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8918:Etl4
|
UTSW |
2 |
20,748,733 (GRCm39) |
missense |
probably benign |
|
|
R9062:Etl4
|
UTSW |
2 |
20,748,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9095:Etl4
|
UTSW |
2 |
20,782,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9200:Etl4
|
UTSW |
2 |
20,786,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9416:Etl4
|
UTSW |
2 |
20,748,784 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9437:Etl4
|
UTSW |
2 |
20,813,872 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9451:Etl4
|
UTSW |
2 |
20,813,926 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9489:Etl4
|
UTSW |
2 |
20,771,345 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9531:Etl4
|
UTSW |
2 |
20,294,818 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R9605:Etl4
|
UTSW |
2 |
20,771,345 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9623:Etl4
|
UTSW |
2 |
20,811,052 (GRCm39) |
missense |
|
|
|
R9631:Etl4
|
UTSW |
2 |
20,666,749 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9632:Etl4
|
UTSW |
2 |
20,666,749 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9646:Etl4
|
UTSW |
2 |
20,802,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9732:Etl4
|
UTSW |
2 |
20,748,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9755:Etl4
|
UTSW |
2 |
20,790,048 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9771:Etl4
|
UTSW |
2 |
20,811,537 (GRCm39) |
missense |
probably benign |
|
|
RF003:Etl4
|
UTSW |
2 |
20,524,729 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Etl4
|
UTSW |
2 |
20,814,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0022:Etl4
|
UTSW |
2 |
20,714,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAAACGCAGCTGCTAAGTTG -3'
(R):5'- TCTGAAAGAGAACCCAGCCTTTC -3'
Sequencing Primer
(F):5'- CTAAGTTGCCGTCCTCTAAGAAGG -3'
(R):5'- CACAGTTCTTTAGTTAATCAAGGCAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation