Incidental Mutation 'R4825:Etl4'
| ID |
371351 |
| 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 |
042441-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.809)
|
| Stock # |
R4825 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
19915018-20815346 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20811738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1274
(I1274V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045555]
[ENSMUST00000066509]
[ENSMUST00000114604]
[ENSMUST00000114606]
[ENSMUST00000114607]
[ENSMUST00000114608]
[ENSMUST00000114614]
[ENSMUST00000114627]
|
| AlphaFold |
A2AQ25 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045555
|
| SMART Domains |
Protein: ENSMUSP00000041431
Gene: ENSMUSG00000036617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIP3
|
188 |
291 |
1.7e-11 |
PFAM |
|
low complexity region
|
313 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
368 |
N/A |
INTRINSIC |
|
coiled coil region
|
620 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
1067 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1212 |
1231 |
N/A |
INTRINSIC |
|
low complexity region
|
1296 |
1314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066509
AA Change: I1591V
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000066170
Gene: ENSMUSG00000036617
AA Change: I1591V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
313 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
368 |
N/A |
INTRINSIC |
|
coiled coil region
|
655 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
1102 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1372 |
1381 |
N/A |
INTRINSIC |
|
low complexity region
|
1470 |
1495 |
N/A |
INTRINSIC |
|
low complexity region
|
1571 |
1582 |
N/A |
INTRINSIC |
|
coiled coil region
|
1658 |
1686 |
N/A |
INTRINSIC |
|
low complexity region
|
1724 |
1737 |
N/A |
INTRINSIC |
|
low complexity region
|
1806 |
1825 |
N/A |
INTRINSIC |
|
low complexity region
|
1890 |
1908 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114604
|
| SMART Domains |
Protein: ENSMUSP00000110251
Gene: ENSMUSG00000036617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIP3
|
188 |
291 |
1.7e-11 |
PFAM |
|
low complexity region
|
313 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
368 |
N/A |
INTRINSIC |
|
coiled coil region
|
655 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
1102 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1207 |
1226 |
N/A |
INTRINSIC |
|
low complexity region
|
1291 |
1309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114606
|
| SMART Domains |
Protein: ENSMUSP00000110253
Gene: ENSMUSG00000036617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
86 |
N/A |
INTRINSIC |
|
coiled coil region
|
338 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
814 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114607
|
| SMART Domains |
Protein: ENSMUSP00000110254
Gene: ENSMUSG00000036617
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
86 |
N/A |
INTRINSIC |
|
coiled coil region
|
338 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
814 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114608
AA Change: I1274V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110255
Gene: ENSMUSG00000036617
AA Change: I1274V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
86 |
N/A |
INTRINSIC |
|
coiled coil region
|
338 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
814 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1178 |
N/A |
INTRINSIC |
|
low complexity region
|
1254 |
1265 |
N/A |
INTRINSIC |
|
coiled coil region
|
1341 |
1369 |
N/A |
INTRINSIC |
|
low complexity region
|
1407 |
1420 |
N/A |
INTRINSIC |
|
low complexity region
|
1489 |
1508 |
N/A |
INTRINSIC |
|
low complexity region
|
1573 |
1591 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114614
|
| SMART Domains |
Protein: ENSMUSP00000110261
Gene: ENSMUSG00000036617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AIP3
|
188 |
291 |
1.7e-11 |
PFAM |
|
low complexity region
|
313 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
368 |
N/A |
INTRINSIC |
|
coiled coil region
|
620 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1085 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1220 |
N/A |
INTRINSIC |
|
low complexity region
|
1285 |
1303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114627
AA Change: I1642V
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110274
Gene: ENSMUSG00000036617
AA Change: I1642V
| 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 |
noncoding transcript
Transcript: ENSMUST00000125772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156587
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
|
| 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: 130 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
C |
A |
11: 109,682,498 (GRCm39) |
L229F |
probably benign |
Het |
| A930002H24Rik |
A |
C |
17: 64,170,603 (GRCm39) |
S62A |
unknown |
Het |
| Abca12 |
T |
A |
1: 71,341,844 (GRCm39) |
Q1039L |
possibly damaging |
Het |
| Adgrg5 |
T |
A |
8: 95,668,362 (GRCm39) |
F476I |
possibly damaging |
Het |
| Alms1 |
A |
G |
6: 85,655,227 (GRCm39) |
K2789E |
probably damaging |
Het |
| Arrdc2 |
G |
A |
8: 71,291,921 (GRCm39) |
|
probably null |
Het |
| Atp2b1 |
T |
A |
10: 98,845,426 (GRCm39) |
I743K |
probably damaging |
Het |
| Atp6v1c2 |
C |
T |
12: 17,339,061 (GRCm39) |
G230D |
probably benign |
Het |
| AU040320 |
G |
A |
4: 126,685,586 (GRCm39) |
C54Y |
probably damaging |
Het |
| BC024139 |
C |
T |
15: 76,004,517 (GRCm39) |
V680I |
possibly damaging |
Het |
| Bckdhb |
A |
G |
9: 83,870,958 (GRCm39) |
D156G |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,096,368 (GRCm39) |
A107T |
probably damaging |
Het |
| Canx |
T |
A |
11: 50,199,636 (GRCm39) |
D143V |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,912,794 (GRCm39) |
V591E |
possibly damaging |
Het |
| Ccno |
T |
C |
13: 113,124,633 (GRCm39) |
S68P |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,603,613 (GRCm39) |
E527K |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,324,210 (GRCm39) |
D14E |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,537,806 (GRCm39) |
V1238A |
probably benign |
Het |
| Ciz1 |
C |
T |
2: 32,261,753 (GRCm39) |
A455V |
probably damaging |
Het |
| Coro2b |
T |
A |
9: 62,361,905 (GRCm39) |
Y86F |
probably benign |
Het |
| Csf2ra |
C |
T |
19: 61,214,990 (GRCm39) |
R158Q |
probably benign |
Het |
| Cubn |
A |
T |
2: 13,330,036 (GRCm39) |
I2615N |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,628,996 (GRCm39) |
R129* |
probably null |
Het |
| Disc1 |
T |
A |
8: 125,862,041 (GRCm39) |
M471K |
possibly damaging |
Het |
| Dmxl2 |
G |
T |
9: 54,311,325 (GRCm39) |
L1799I |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,314,031 (GRCm39) |
S4108P |
probably damaging |
Het |
| Ecpas |
G |
A |
4: 58,850,911 (GRCm39) |
L421F |
probably damaging |
Het |
| Ehmt2 |
C |
G |
17: 35,125,940 (GRCm39) |
P211R |
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,921,392 (GRCm39) |
D1557G |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,381,699 (GRCm39) |
D384G |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,580,739 (GRCm39) |
P489S |
possibly damaging |
Het |
| Fip1l1 |
G |
A |
5: 74,748,866 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
T |
C |
3: 151,923,527 (GRCm39) |
|
probably null |
Het |
| Glul |
T |
C |
1: 153,778,790 (GRCm39) |
V33A |
probably benign |
Het |
| Gm4846 |
A |
G |
1: 166,319,237 (GRCm39) |
F167S |
probably damaging |
Het |
| Heatr6 |
T |
A |
11: 83,649,148 (GRCm39) |
L168M |
probably damaging |
Het |
| Hif1a |
T |
A |
12: 73,979,175 (GRCm39) |
I233N |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,007,063 (GRCm39) |
H1220Q |
possibly damaging |
Het |
| Igkv8-21 |
T |
C |
6: 70,292,410 (GRCm39) |
I9M |
probably benign |
Het |
| Izumo1 |
T |
A |
7: 45,274,411 (GRCm39) |
C62* |
probably null |
Het |
| Jakmip3 |
G |
A |
7: 138,628,495 (GRCm39) |
E424K |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,205,847 (GRCm39) |
V358A |
probably damaging |
Het |
| Klk10 |
C |
G |
7: 43,433,022 (GRCm39) |
D139E |
probably damaging |
Het |
| Klk14 |
T |
C |
7: 43,341,500 (GRCm39) |
C51R |
probably damaging |
Het |
| Klk1b5 |
T |
G |
7: 43,494,814 (GRCm39) |
I99S |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,124,167 (GRCm39) |
T258A |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,664,292 (GRCm39) |
Y812H |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,766,967 (GRCm39) |
L474* |
probably null |
Het |
| Mkks |
A |
T |
2: 136,722,575 (GRCm39) |
M194K |
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,654,121 (GRCm39) |
D347G |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,581,195 (GRCm39) |
E460G |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,536,226 (GRCm39) |
F605S |
probably damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,979,627 (GRCm39) |
S193G |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,570,565 (GRCm39) |
T542S |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,422,202 (GRCm39) |
L4446P |
possibly damaging |
Het |
| Mxi1 |
C |
A |
19: 53,358,769 (GRCm39) |
S131* |
probably null |
Het |
| Nanog |
G |
T |
6: 122,690,299 (GRCm39) |
A210S |
probably benign |
Het |
| Nrcam |
C |
T |
12: 44,622,769 (GRCm39) |
Q988* |
probably null |
Het |
| Nsg1 |
C |
A |
5: 38,316,391 (GRCm39) |
|
probably benign |
Het |
| Ogfod3 |
G |
A |
11: 121,086,027 (GRCm39) |
A189V |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,918,038 (GRCm39) |
M69K |
possibly damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,432 (GRCm39) |
C185* |
probably null |
Het |
| Or4a68 |
A |
G |
2: 89,270,209 (GRCm39) |
V138A |
probably benign |
Het |
| Or4c122 |
T |
C |
2: 89,079,034 (GRCm39) |
|
probably null |
Het |
| Or4c35 |
G |
A |
2: 89,808,497 (GRCm39) |
C125Y |
probably damaging |
Het |
| Or51ai2 |
T |
C |
7: 103,586,710 (GRCm39) |
V41A |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,191,587 (GRCm39) |
V148E |
possibly damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,684 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
T |
G |
9: 19,694,872 (GRCm39) |
S148A |
possibly damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,703 (GRCm39) |
T240S |
probably damaging |
Het |
| Orc3 |
A |
T |
4: 34,571,774 (GRCm39) |
M665K |
possibly damaging |
Het |
| Pabpc1 |
A |
G |
15: 36,597,255 (GRCm39) |
S591P |
probably damaging |
Het |
| Pacc1 |
A |
T |
1: 191,073,040 (GRCm39) |
I154F |
probably damaging |
Het |
| Parp6 |
T |
A |
9: 59,531,645 (GRCm39) |
|
probably null |
Het |
| Pcdh1 |
T |
C |
18: 38,322,912 (GRCm39) |
M974V |
possibly damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,713 (GRCm39) |
V727E |
possibly damaging |
Het |
| Pex5l |
T |
C |
3: 33,047,134 (GRCm39) |
E272G |
probably damaging |
Het |
| Pglyrp2 |
G |
T |
17: 32,637,235 (GRCm39) |
N264K |
probably benign |
Het |
| Phxr4 |
T |
A |
9: 13,342,882 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,278,025 (GRCm39) |
F293S |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,607,625 (GRCm39) |
D1077G |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,461,700 (GRCm39) |
|
probably null |
Het |
| Prex1 |
G |
T |
2: 166,427,777 (GRCm39) |
C788* |
probably null |
Het |
| Prrt3 |
A |
T |
6: 113,475,099 (GRCm39) |
M41K |
probably benign |
Het |
| Ptgir |
T |
C |
7: 16,642,768 (GRCm39) |
V326A |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,220,654 (GRCm38) |
D455E |
probably damaging |
Het |
| Ptpru |
T |
A |
4: 131,526,914 (GRCm39) |
Q686L |
probably benign |
Het |
| Pxdc1 |
G |
T |
13: 34,814,343 (GRCm39) |
T190K |
probably benign |
Het |
| Rap1b |
A |
T |
10: 117,654,487 (GRCm39) |
C118S |
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,990,534 (GRCm39) |
M915V |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpe65 |
C |
T |
3: 159,330,318 (GRCm39) |
A495V |
probably benign |
Het |
| Samd15 |
A |
G |
12: 87,247,608 (GRCm39) |
T98A |
possibly damaging |
Het |
| Sdk1 |
T |
G |
5: 141,568,049 (GRCm39) |
D82E |
probably benign |
Het |
| Slc26a7 |
T |
C |
4: 14,546,309 (GRCm39) |
D340G |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,253,921 (GRCm39) |
M619K |
probably benign |
Het |
| Slc7a4 |
C |
A |
16: 17,392,385 (GRCm39) |
D350Y |
probably damaging |
Het |
| Slk |
T |
G |
19: 47,608,395 (GRCm39) |
N449K |
probably benign |
Het |
| Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
A |
T |
2: 119,886,374 (GRCm39) |
|
probably benign |
Het |
| Srd5a2 |
A |
T |
17: 74,354,800 (GRCm39) |
V8D |
probably benign |
Het |
| Srgap3 |
G |
A |
6: 112,704,271 (GRCm39) |
A906V |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,783,011 (GRCm39) |
M679K |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,000,054 (GRCm39) |
I291V |
probably benign |
Het |
| Supt6 |
T |
A |
11: 78,098,960 (GRCm39) |
Q1637L |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,114,564 (GRCm39) |
F2047S |
probably damaging |
Het |
| Swsap1 |
A |
G |
9: 21,867,284 (GRCm39) |
E76G |
probably benign |
Het |
| Syndig1 |
G |
T |
2: 149,741,473 (GRCm39) |
G20C |
probably damaging |
Het |
| Synj2bp |
A |
T |
12: 81,548,926 (GRCm39) |
N104K |
probably damaging |
Het |
| Synpo2 |
T |
A |
3: 122,908,068 (GRCm39) |
D416V |
probably damaging |
Het |
| Tacc3 |
G |
T |
5: 33,829,357 (GRCm39) |
C620F |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,529,766 (GRCm39) |
E19G |
probably damaging |
Het |
| Tars3 |
C |
T |
7: 65,297,302 (GRCm39) |
A139V |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,235,935 (GRCm39) |
C365S |
probably damaging |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,381 (GRCm39) |
H197R |
possibly damaging |
Het |
| Tha1 |
A |
T |
11: 117,760,205 (GRCm39) |
N300K |
probably damaging |
Het |
| Tm6sf1 |
T |
A |
7: 81,515,008 (GRCm39) |
F70L |
probably damaging |
Het |
| Tmem132b |
T |
A |
5: 125,860,497 (GRCm39) |
S581T |
probably benign |
Het |
| Tnfsf13 |
G |
T |
11: 69,576,075 (GRCm39) |
S4* |
probably null |
Het |
| Tonsl |
G |
A |
15: 76,517,448 (GRCm39) |
S757L |
probably benign |
Het |
| Trem2 |
G |
T |
17: 48,658,719 (GRCm39) |
R161S |
possibly damaging |
Het |
| Trpm2 |
A |
T |
10: 77,777,007 (GRCm39) |
V430E |
probably damaging |
Het |
| Ttc14 |
T |
A |
3: 33,855,518 (GRCm39) |
D154E |
possibly damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,398,498 (GRCm39) |
M313V |
possibly damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,739 (GRCm39) |
I689V |
probably benign |
Het |
| Wdr76 |
A |
G |
2: 121,372,975 (GRCm39) |
T601A |
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,846,069 (GRCm39) |
D938G |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,041 (GRCm39) |
D966E |
probably benign |
Het |
| Zfp957 |
A |
G |
14: 79,451,796 (GRCm39) |
M1T |
probably null |
Het |
| Zkscan16 |
A |
T |
4: 58,957,809 (GRCm39) |
H697L |
possibly damaging |
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 |
|
R4888:Etl4
|
UTSW |
2 |
20,344,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- GTTGCTAACTCCAGGAGTGC -3'
(R):5'- AGGCTGTCCAGTGTTCTGTAAG -3'
Sequencing Primer
(F):5'- CTAACTCCAGGAGTGCAGGGG -3'
(R):5'- ATCAGTCCTTGATGCCGGAAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation