Incidental Mutation 'R5584:Etaa1'
ID |
438623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Etaa1
|
Ensembl Gene |
ENSMUSG00000016984 |
Gene Name |
Ewing tumor-associated antigen 1 |
Synonyms |
5730466H23Rik |
MMRRC Submission |
043138-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5584 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
17888756-17903875 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17897406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 237
(V237E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076661]
|
AlphaFold |
Q5SVT3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076661
AA Change: V237E
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000075957 Gene: ENSMUSG00000016984 AA Change: V237E
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
74 |
N/A |
INTRINSIC |
Pfam:ETAA1
|
79 |
865 |
N/A |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,553,386 (GRCm39) |
G5496D |
probably damaging |
Het |
Akr1c19 |
A |
T |
13: 4,293,031 (GRCm39) |
Q262H |
probably damaging |
Het |
Cntn5 |
T |
C |
9: 9,661,457 (GRCm39) |
T1070A |
possibly damaging |
Het |
Efcab14 |
T |
C |
4: 115,621,794 (GRCm39) |
V358A |
possibly damaging |
Het |
Epb41l4a |
G |
T |
18: 33,987,324 (GRCm39) |
T351N |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,508,950 (GRCm39) |
N684K |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,446,627 (GRCm39) |
T946A |
probably damaging |
Het |
Fstl5 |
T |
A |
3: 76,229,574 (GRCm39) |
I125N |
probably damaging |
Het |
Gcsam |
A |
C |
16: 45,440,226 (GRCm39) |
I90L |
probably benign |
Het |
Glrx |
T |
A |
13: 75,995,341 (GRCm39) |
I87N |
probably benign |
Het |
Hivep1 |
T |
A |
13: 42,313,593 (GRCm39) |
N1944K |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,281,632 (GRCm39) |
D3913G |
probably damaging |
Het |
Ltb4r1 |
T |
A |
14: 56,004,844 (GRCm39) |
M49K |
possibly damaging |
Het |
Mbip |
A |
G |
12: 56,382,647 (GRCm39) |
I273T |
probably damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,201,550 (GRCm39) |
S384T |
probably damaging |
Het |
Nlrp4e |
T |
G |
7: 23,020,602 (GRCm39) |
I363S |
probably benign |
Het |
Nrg3 |
CCCGCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGCCGC |
14: 39,194,654 (GRCm39) |
|
probably benign |
Het |
Pcdha11 |
C |
A |
18: 37,139,818 (GRCm39) |
D482E |
probably damaging |
Het |
Plppr3 |
T |
C |
10: 79,702,286 (GRCm39) |
Y262C |
probably damaging |
Het |
Ppip5k2 |
T |
C |
1: 97,678,366 (GRCm39) |
K284E |
probably damaging |
Het |
Rabggta |
T |
C |
14: 55,958,289 (GRCm39) |
N124S |
probably benign |
Het |
Rbm46 |
C |
A |
3: 82,771,465 (GRCm39) |
M383I |
probably benign |
Het |
Rfx1 |
G |
A |
8: 84,814,706 (GRCm39) |
|
probably null |
Het |
Sema3d |
T |
C |
5: 12,615,975 (GRCm39) |
V493A |
possibly damaging |
Het |
Sema3d |
T |
C |
5: 12,620,954 (GRCm39) |
V520A |
possibly damaging |
Het |
Sis |
C |
G |
3: 72,817,748 (GRCm39) |
W1488C |
probably damaging |
Het |
Slc6a20a |
A |
G |
9: 123,469,753 (GRCm39) |
F411S |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,127,651 (GRCm39) |
N405K |
probably damaging |
Het |
Thnsl1 |
C |
T |
2: 21,218,223 (GRCm39) |
P138L |
probably damaging |
Het |
Trim27 |
T |
A |
13: 21,376,719 (GRCm39) |
I489N |
probably damaging |
Het |
Triobp |
G |
A |
15: 78,852,332 (GRCm39) |
V829I |
possibly damaging |
Het |
Unc119 |
A |
G |
11: 78,239,396 (GRCm39) |
D217G |
probably damaging |
Het |
Ushbp1 |
T |
C |
8: 71,843,623 (GRCm39) |
T272A |
possibly damaging |
Het |
Zfpm2 |
A |
T |
15: 40,965,933 (GRCm39) |
N806I |
probably benign |
Het |
Znrf3 |
T |
C |
11: 5,236,218 (GRCm39) |
E164G |
probably damaging |
Het |
|
Other mutations in Etaa1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Etaa1
|
APN |
11 |
17,897,825 (GRCm39) |
nonsense |
probably null |
|
IGL00555:Etaa1
|
APN |
11 |
17,897,535 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01098:Etaa1
|
APN |
11 |
17,896,059 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01100:Etaa1
|
APN |
11 |
17,902,576 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01312:Etaa1
|
APN |
11 |
17,895,909 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01391:Etaa1
|
APN |
11 |
17,896,005 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01607:Etaa1
|
APN |
11 |
17,903,637 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02066:Etaa1
|
APN |
11 |
17,896,687 (GRCm39) |
missense |
probably benign |
|
R0401:Etaa1
|
UTSW |
11 |
17,897,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R0413:Etaa1
|
UTSW |
11 |
17,896,350 (GRCm39) |
nonsense |
probably null |
|
R0790:Etaa1
|
UTSW |
11 |
17,896,051 (GRCm39) |
missense |
probably benign |
0.00 |
R1442:Etaa1
|
UTSW |
11 |
17,897,201 (GRCm39) |
missense |
probably benign |
0.19 |
R1447:Etaa1
|
UTSW |
11 |
17,896,625 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1647:Etaa1
|
UTSW |
11 |
17,896,492 (GRCm39) |
missense |
probably damaging |
0.99 |
R1945:Etaa1
|
UTSW |
11 |
17,897,233 (GRCm39) |
missense |
probably damaging |
0.96 |
R1996:Etaa1
|
UTSW |
11 |
17,902,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R2211:Etaa1
|
UTSW |
11 |
17,902,686 (GRCm39) |
nonsense |
probably null |
|
R2338:Etaa1
|
UTSW |
11 |
17,895,605 (GRCm39) |
critical splice donor site |
probably null |
|
R3027:Etaa1
|
UTSW |
11 |
17,897,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R3546:Etaa1
|
UTSW |
11 |
17,903,823 (GRCm39) |
start gained |
probably benign |
|
R4118:Etaa1
|
UTSW |
11 |
17,896,180 (GRCm39) |
missense |
probably benign |
0.18 |
R4156:Etaa1
|
UTSW |
11 |
17,890,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R4657:Etaa1
|
UTSW |
11 |
17,896,964 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4882:Etaa1
|
UTSW |
11 |
17,896,174 (GRCm39) |
missense |
probably benign |
0.10 |
R4914:Etaa1
|
UTSW |
11 |
17,896,532 (GRCm39) |
missense |
probably benign |
0.05 |
R4978:Etaa1
|
UTSW |
11 |
17,896,581 (GRCm39) |
missense |
probably damaging |
0.99 |
R5202:Etaa1
|
UTSW |
11 |
17,897,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R5384:Etaa1
|
UTSW |
11 |
17,897,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R6303:Etaa1
|
UTSW |
11 |
17,897,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R6304:Etaa1
|
UTSW |
11 |
17,897,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R6351:Etaa1
|
UTSW |
11 |
17,897,188 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6391:Etaa1
|
UTSW |
11 |
17,896,833 (GRCm39) |
missense |
probably benign |
0.04 |
R6685:Etaa1
|
UTSW |
11 |
17,903,582 (GRCm39) |
missense |
probably benign |
0.40 |
R6705:Etaa1
|
UTSW |
11 |
17,895,639 (GRCm39) |
missense |
probably benign |
0.02 |
R6807:Etaa1
|
UTSW |
11 |
17,902,680 (GRCm39) |
missense |
probably benign |
|
R6863:Etaa1
|
UTSW |
11 |
17,903,794 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R6985:Etaa1
|
UTSW |
11 |
17,896,108 (GRCm39) |
missense |
probably damaging |
0.99 |
R7129:Etaa1
|
UTSW |
11 |
17,890,339 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7429:Etaa1
|
UTSW |
11 |
17,890,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R8093:Etaa1
|
UTSW |
11 |
17,897,559 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8220:Etaa1
|
UTSW |
11 |
17,895,690 (GRCm39) |
missense |
probably benign |
0.01 |
R8512:Etaa1
|
UTSW |
11 |
17,897,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R8984:Etaa1
|
UTSW |
11 |
17,890,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R9053:Etaa1
|
UTSW |
11 |
17,895,798 (GRCm39) |
missense |
probably benign |
0.01 |
R9177:Etaa1
|
UTSW |
11 |
17,896,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R9211:Etaa1
|
UTSW |
11 |
17,896,053 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9268:Etaa1
|
UTSW |
11 |
17,896,419 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Etaa1
|
UTSW |
11 |
17,896,465 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCACTACACATCTGAGTGGAAC -3'
(R):5'- AATTTTGGTGTTTCGTCACACG -3'
Sequencing Primer
(F):5'- CTGAGTGGAACCATCAAATATAGC -3'
(R):5'- CGTCACACGAAACTATACTAAACAG -3'
|
Posted On |
2016-10-26 |