Incidental Mutation 'R6303:Etaa1'
ID |
509162 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Etaa1
|
Ensembl Gene |
ENSMUSG00000016984 |
Gene Name |
Ewing tumor-associated antigen 1 |
Synonyms |
5730466H23Rik |
MMRRC Submission |
044410-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6303 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
17888756-17903875 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 17897505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 204
(M204R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076661]
|
AlphaFold |
Q5SVT3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076661
AA Change: M204R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075957 Gene: ENSMUSG00000016984 AA Change: M204R
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 |
0.1943 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol9b |
T |
A |
15: 77,619,504 (GRCm39) |
V100E |
probably damaging |
Het |
Bin3 |
A |
G |
14: 70,374,625 (GRCm39) |
D218G |
possibly damaging |
Het |
Cobll1 |
A |
T |
2: 64,928,377 (GRCm39) |
M982K |
possibly damaging |
Het |
Crybg2 |
T |
C |
4: 133,814,898 (GRCm39) |
V1593A |
possibly damaging |
Het |
Ctsh |
A |
G |
9: 89,944,796 (GRCm39) |
S76G |
possibly damaging |
Het |
Dnajc10 |
T |
G |
2: 80,181,008 (GRCm39) |
D767E |
probably benign |
Het |
Elapor1 |
A |
C |
3: 108,368,572 (GRCm39) |
C806W |
probably damaging |
Het |
Fbxw16 |
A |
T |
9: 109,278,169 (GRCm39) |
I3N |
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,977,317 (GRCm39) |
E1394G |
probably damaging |
Het |
Gm19410 |
T |
C |
8: 36,274,714 (GRCm39) |
C1512R |
possibly damaging |
Het |
Gramd4 |
A |
G |
15: 86,019,120 (GRCm39) |
E596G |
possibly damaging |
Het |
Hephl1 |
C |
A |
9: 15,001,448 (GRCm39) |
V226F |
possibly damaging |
Het |
Ilf3 |
G |
A |
9: 21,314,432 (GRCm39) |
|
probably benign |
Het |
Kcnh3 |
T |
C |
15: 99,124,919 (GRCm39) |
V123A |
probably benign |
Het |
Kdm2b |
A |
G |
5: 123,019,807 (GRCm39) |
S260P |
probably benign |
Het |
Lingo4 |
G |
A |
3: 94,310,513 (GRCm39) |
G484R |
probably damaging |
Het |
Lrrc10b |
T |
C |
19: 10,434,342 (GRCm39) |
Q113R |
probably benign |
Het |
Lrrc8c |
A |
T |
5: 105,756,475 (GRCm39) |
N750I |
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,882,684 (GRCm39) |
N456S |
possibly damaging |
Het |
Nlrp2 |
A |
G |
7: 5,340,760 (GRCm39) |
L18P |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,784,565 (GRCm39) |
L238P |
probably damaging |
Het |
Nup155 |
T |
C |
15: 8,147,526 (GRCm39) |
S262P |
probably damaging |
Het |
Or51k1 |
G |
A |
7: 103,661,238 (GRCm39) |
L224F |
probably damaging |
Het |
Pappa |
G |
A |
4: 65,122,891 (GRCm39) |
G742D |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,727,907 (GRCm39) |
|
probably benign |
Het |
Phyhipl |
A |
G |
10: 70,395,387 (GRCm39) |
|
probably null |
Het |
Plcg1 |
A |
G |
2: 160,603,383 (GRCm39) |
T1185A |
possibly damaging |
Het |
Plscr5 |
A |
T |
9: 92,087,609 (GRCm39) |
I193F |
probably benign |
Het |
Polr1b |
G |
A |
2: 128,957,682 (GRCm39) |
R579H |
probably damaging |
Het |
Polr2a |
A |
T |
11: 69,637,739 (GRCm39) |
W202R |
probably damaging |
Het |
Ppp4r1 |
A |
G |
17: 66,131,724 (GRCm39) |
K489E |
probably benign |
Het |
Qser1 |
G |
A |
2: 104,593,175 (GRCm39) |
T1704I |
probably damaging |
Het |
Sik1 |
A |
G |
17: 32,065,270 (GRCm39) |
V776A |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,126,202 (GRCm39) |
K2269N |
possibly damaging |
Het |
Spice1 |
A |
G |
16: 44,191,060 (GRCm39) |
M305V |
probably benign |
Het |
Taf4b |
T |
C |
18: 14,940,412 (GRCm39) |
I297T |
probably damaging |
Het |
Trim14 |
C |
A |
4: 46,522,118 (GRCm39) |
M186I |
probably benign |
Het |
Usp49 |
C |
A |
17: 47,991,747 (GRCm39) |
Q670K |
probably damaging |
Het |
Usp54 |
T |
C |
14: 20,611,036 (GRCm39) |
D1260G |
possibly damaging |
Het |
Vmn1r224 |
T |
A |
17: 20,640,028 (GRCm39) |
S202T |
possibly damaging |
Het |
Vmn1r3 |
T |
A |
4: 3,184,975 (GRCm39) |
T111S |
probably damaging |
Het |
Zfp985 |
A |
G |
4: 147,668,232 (GRCm39) |
I367V |
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 |
|
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 |
R5584:Etaa1
|
UTSW |
11 |
17,897,406 (GRCm39) |
missense |
possibly damaging |
0.72 |
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'- TGTCTTGTGCCTTTGCCAAG -3'
(R):5'- TCCTGAAAGTCAGTGAGGCAG -3'
Sequencing Primer
(F):5'- GCCAAGGATATTCTACTGTCTCC -3'
(R):5'- AGGCGCTCCATTCTTGCTCATAG -3'
|
Posted On |
2018-04-02 |