Incidental Mutation 'R0790:Etaa1'
ID |
76440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Etaa1
|
Ensembl Gene |
ENSMUSG00000016984 |
Gene Name |
Ewing tumor-associated antigen 1 |
Synonyms |
5730466H23Rik |
MMRRC Submission |
038970-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0790 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
17888756-17903875 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 17896051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 689
(Q689K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076661]
|
AlphaFold |
Q5SVT3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076661
AA Change: Q689K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000075957 Gene: ENSMUSG00000016984 AA Change: Q689K
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.0%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
A |
G |
12: 8,060,245 (GRCm39) |
E2876G |
probably damaging |
Het |
Arhgef28 |
A |
G |
13: 98,117,914 (GRCm39) |
S585P |
possibly damaging |
Het |
Atp11b |
T |
A |
3: 35,887,072 (GRCm39) |
N685K |
probably damaging |
Het |
Camsap2 |
C |
T |
1: 136,201,475 (GRCm39) |
|
probably benign |
Het |
Ccdc150 |
T |
A |
1: 54,316,935 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
A |
G |
18: 34,784,666 (GRCm39) |
I32T |
possibly damaging |
Het |
Cdca2 |
C |
T |
14: 67,917,740 (GRCm39) |
D553N |
probably benign |
Het |
Chd8 |
T |
C |
14: 52,441,482 (GRCm39) |
D870G |
probably benign |
Het |
Chit1 |
T |
G |
1: 134,066,490 (GRCm39) |
V2G |
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
Cpsf4l |
A |
G |
11: 113,597,234 (GRCm39) |
|
probably benign |
Het |
Fam83h |
C |
T |
15: 75,875,241 (GRCm39) |
V699I |
probably benign |
Het |
Fry |
A |
G |
5: 150,389,902 (GRCm39) |
D2545G |
probably benign |
Het |
Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
Kif5a |
T |
C |
10: 127,081,878 (GRCm39) |
|
probably benign |
Het |
Lifr |
A |
G |
15: 7,215,196 (GRCm39) |
T768A |
probably benign |
Het |
Mrap2 |
T |
C |
9: 87,064,835 (GRCm39) |
L192P |
possibly damaging |
Het |
Myo18a |
G |
A |
11: 77,731,535 (GRCm39) |
R840Q |
possibly damaging |
Het |
Myrfl |
T |
C |
10: 116,653,693 (GRCm39) |
D458G |
probably damaging |
Het |
Or12j4 |
T |
C |
7: 140,046,962 (GRCm39) |
S283P |
possibly damaging |
Het |
Or51s1 |
A |
G |
7: 102,558,843 (GRCm39) |
Y68H |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,466,885 (GRCm39) |
E1034G |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plcb2 |
G |
A |
2: 118,542,964 (GRCm39) |
|
probably benign |
Het |
Psmd1 |
T |
C |
1: 86,005,172 (GRCm39) |
V202A |
possibly damaging |
Het |
Raet1d |
T |
C |
10: 22,246,795 (GRCm39) |
I41T |
probably damaging |
Het |
Retnlb |
T |
A |
16: 48,637,589 (GRCm39) |
L5Q |
possibly damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,782,292 (GRCm39) |
Y145H |
probably damaging |
Het |
Smad7 |
C |
T |
18: 75,526,933 (GRCm39) |
H260Y |
probably benign |
Het |
Stk10 |
T |
C |
11: 32,548,653 (GRCm39) |
V407A |
probably benign |
Het |
Synpo |
A |
G |
18: 60,736,575 (GRCm39) |
V218A |
probably damaging |
Het |
Tll2 |
T |
A |
19: 41,092,289 (GRCm39) |
Y499F |
probably damaging |
Het |
Vrk1 |
C |
T |
12: 106,036,883 (GRCm39) |
P390S |
probably benign |
Het |
Zfp748 |
A |
C |
13: 67,693,481 (GRCm39) |
L64W |
probably benign |
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 |
|
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 |
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'- CTGAGATTTTGCCAACAGGCACAC -3'
(R):5'- CCTTTGACGACTGGAATGATCCGC -3'
Sequencing Primer
(F):5'- CATTCTGAGCTGTATCTGCTAAG -3'
(R):5'- ATGCCATCGGTTAGAGGCTAC -3'
|
Posted On |
2013-10-16 |