Incidental Mutation 'R2338:Etaa1'
ID |
246639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Etaa1
|
Ensembl Gene |
ENSMUSG00000016984 |
Gene Name |
Ewing tumor-associated antigen 1 |
Synonyms |
5730466H23Rik |
MMRRC Submission |
040324-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2338 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
17888756-17903875 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 17895605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076661]
|
AlphaFold |
Q5SVT3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000076661
|
SMART Domains |
Protein: ENSMUSP00000075957 Gene: ENSMUSG00000016984
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
74 |
N/A |
INTRINSIC |
Pfam:ETAA1
|
79 |
865 |
N/A |
PFAM |
|
Meta Mutation Damage Score |
0.9388 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.5%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
A |
G |
14: 35,817,109 (GRCm39) |
D53G |
probably benign |
Het |
A1cf |
C |
T |
19: 31,909,945 (GRCm39) |
P330S |
probably benign |
Het |
Acta2 |
A |
G |
19: 34,225,941 (GRCm39) |
|
probably benign |
Het |
Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Btbd8 |
T |
C |
5: 107,658,440 (GRCm39) |
L1158S |
probably damaging |
Het |
Cadps2 |
C |
G |
6: 23,838,977 (GRCm39) |
|
probably benign |
Het |
Camsap3 |
C |
T |
8: 3,656,808 (GRCm39) |
R1048C |
probably damaging |
Het |
Cdkl2 |
C |
T |
5: 92,181,538 (GRCm39) |
A148T |
possibly damaging |
Het |
Dab2 |
T |
A |
15: 6,464,733 (GRCm39) |
I395K |
possibly damaging |
Het |
Dclk2 |
A |
G |
3: 86,706,324 (GRCm39) |
F589S |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,465,470 (GRCm39) |
S1376P |
possibly damaging |
Het |
Eprs1 |
T |
C |
1: 185,148,005 (GRCm39) |
F1256L |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,202,727 (GRCm39) |
T116A |
possibly damaging |
Het |
Fem1al |
C |
A |
11: 29,773,718 (GRCm39) |
A580S |
probably benign |
Het |
Fmnl3 |
T |
C |
15: 99,268,108 (GRCm39) |
T26A |
probably benign |
Het |
Foxp1 |
A |
G |
6: 98,980,254 (GRCm39) |
V158A |
possibly damaging |
Het |
G6pd2 |
T |
A |
5: 61,967,351 (GRCm39) |
D375E |
probably benign |
Het |
Gne |
C |
T |
4: 44,042,196 (GRCm39) |
A460T |
probably damaging |
Het |
Gprin1 |
T |
A |
13: 54,886,238 (GRCm39) |
|
probably null |
Het |
Hecw2 |
T |
C |
1: 53,943,581 (GRCm39) |
M949V |
possibly damaging |
Het |
Herc1 |
G |
A |
9: 66,336,251 (GRCm39) |
V1599M |
possibly damaging |
Het |
Hk2 |
A |
C |
6: 82,708,096 (GRCm39) |
N628K |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,498,685 (GRCm39) |
T4065A |
possibly damaging |
Het |
Ipo8 |
T |
A |
6: 148,691,321 (GRCm39) |
Q683L |
probably benign |
Het |
Krt81 |
A |
G |
15: 101,361,217 (GRCm39) |
I121T |
probably benign |
Het |
Lamb2 |
T |
C |
9: 108,359,340 (GRCm39) |
L322P |
probably benign |
Het |
Lilrb4a |
A |
G |
10: 51,367,796 (GRCm39) |
M113V |
probably benign |
Het |
Mnat1 |
G |
A |
12: 73,265,917 (GRCm39) |
|
probably null |
Het |
Mucl1 |
T |
A |
15: 103,783,964 (GRCm39) |
T68S |
possibly damaging |
Het |
Npnt |
G |
T |
3: 132,597,170 (GRCm39) |
D461E |
probably damaging |
Het |
Nrp1 |
A |
T |
8: 129,224,385 (GRCm39) |
Q716L |
probably benign |
Het |
Or11g25 |
A |
G |
14: 50,723,097 (GRCm39) |
T61A |
possibly damaging |
Het |
Or12k5 |
T |
G |
2: 36,895,159 (GRCm39) |
S156R |
probably damaging |
Het |
Or51b6b |
A |
T |
7: 103,309,617 (GRCm39) |
I280N |
possibly damaging |
Het |
Podxl2 |
T |
C |
6: 88,826,178 (GRCm39) |
Q376R |
probably damaging |
Het |
Pudp |
T |
C |
18: 50,701,646 (GRCm39) |
D29G |
probably benign |
Het |
Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
S1pr3 |
T |
C |
13: 51,573,614 (GRCm39) |
I265T |
possibly damaging |
Het |
Scgb1b2 |
A |
T |
7: 30,991,038 (GRCm39) |
C23* |
probably null |
Het |
Spag8 |
G |
T |
4: 43,652,826 (GRCm39) |
R212S |
probably benign |
Het |
Tacc2 |
A |
G |
7: 130,335,299 (GRCm39) |
|
probably null |
Het |
Trmt1l |
C |
T |
1: 151,304,710 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,954,469 (GRCm39) |
L810Q |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ugt3a1 |
T |
A |
15: 9,292,059 (GRCm39) |
|
probably benign |
Het |
Vmn2r23 |
T |
G |
6: 123,681,384 (GRCm39) |
I97M |
possibly damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,590,051 (GRCm39) |
F622I |
possibly damaging |
Het |
Vps13a |
C |
T |
19: 16,697,817 (GRCm39) |
G766E |
probably damaging |
Het |
Wnk1 |
T |
C |
6: 119,946,495 (GRCm39) |
T553A |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,341,114 (GRCm39) |
D1118E |
probably damaging |
Het |
Zfyve9 |
A |
C |
4: 108,517,811 (GRCm39) |
D461E |
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 |
|
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 |
R5584:Etaa1
|
UTSW |
11 |
17,897,406 (GRCm39) |
missense |
possibly damaging |
0.72 |
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'- AAGCAGTCTCAAGATGCACC -3'
(R):5'- AGCAGATACAGCTCAGAATGAC -3'
Sequencing Primer
(F):5'- CAGTCTCAAGATGCACCTTTTGAGG -3'
(R):5'- AGCTCAGAATGACAACAAAATACTG -3'
|
Posted On |
2014-10-30 |