Incidental Mutation 'R4118:Etaa1'
| ID |
315181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etaa1
|
| Ensembl Gene |
ENSMUSG00000016984 |
| Gene Name |
Ewing tumor-associated antigen 1 |
| Synonyms |
5730466H23Rik |
| MMRRC Submission |
041631-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
17888756-17903875 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17896180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 646
(S646T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076661]
|
| AlphaFold |
Q5SVT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076661
AA Change: S646T
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000075957
Gene: ENSMUSG00000016984
AA Change: S646T
| 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: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
92% (55/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,503 (GRCm39) |
R31G |
possibly damaging |
Het |
| 4932414N04Rik |
C |
T |
2: 68,566,857 (GRCm39) |
R419C |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,816,418 (GRCm39) |
E232G |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,771,428 (GRCm39) |
K1245M |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,343,858 (GRCm39) |
L83P |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,793,044 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,308 (GRCm38) |
S665P |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,237,708 (GRCm39) |
Y212C |
possibly damaging |
Het |
| Cars1 |
A |
G |
7: 143,113,384 (GRCm39) |
|
probably null |
Het |
| Cep162 |
T |
C |
9: 87,086,229 (GRCm39) |
T1032A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,865,831 (GRCm39) |
E668K |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,242,076 (GRCm39) |
T201A |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,121,979 (GRCm39) |
S1079T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,463,474 (GRCm39) |
S1339P |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,503,981 (GRCm39) |
D4491E |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
| Gpr18 |
T |
C |
14: 122,149,968 (GRCm39) |
E19G |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,176,073 (GRCm39) |
T633A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,055,532 (GRCm39) |
S317R |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,583,488 (GRCm39) |
M692K |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,741,361 (GRCm39) |
C451* |
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,260,606 (GRCm39) |
|
probably null |
Het |
| Myrfl |
T |
A |
10: 116,664,870 (GRCm39) |
I387F |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,964,908 (GRCm39) |
V332I |
probably benign |
Het |
| Nat2 |
G |
A |
8: 67,954,271 (GRCm39) |
R127H |
possibly damaging |
Het |
| Otx2 |
G |
A |
14: 48,896,611 (GRCm39) |
T141I |
probably benign |
Het |
| Paqr9 |
T |
A |
9: 95,442,952 (GRCm39) |
I314N |
probably damaging |
Het |
| Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,202,408 (GRCm39) |
D37G |
probably benign |
Het |
| Prdm9 |
T |
G |
17: 15,764,275 (GRCm39) |
D835A |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,547,781 (GRCm39) |
S206P |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,976,194 (GRCm39) |
|
probably null |
Het |
| Rpgrip1l |
G |
A |
8: 91,979,535 (GRCm39) |
T969I |
probably benign |
Het |
| Rpp40 |
A |
G |
13: 36,080,787 (GRCm39) |
Y316H |
probably damaging |
Het |
| Serpinb3d |
A |
T |
1: 107,006,960 (GRCm39) |
D249E |
possibly damaging |
Het |
| Slc22a29 |
A |
C |
19: 8,137,893 (GRCm39) |
|
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,965,464 (GRCm39) |
M293T |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,204,027 (GRCm39) |
L98H |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,673,921 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
A |
G |
14: 50,600,684 (GRCm39) |
Y890C |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,868,074 (GRCm39) |
T194A |
probably benign |
Het |
| Ubap1 |
A |
T |
4: 41,371,767 (GRCm39) |
D26V |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,330,358 (GRCm39) |
N547K |
probably damaging |
Het |
| Wiz |
C |
T |
17: 32,588,331 (GRCm39) |
|
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,272,091 (GRCm39) |
T399A |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,829 (GRCm39) |
F479I |
possibly damaging |
Het |
| Zswim5 |
G |
A |
4: 116,844,016 (GRCm39) |
R1018H |
possibly 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 |
|
|
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'- TATTCACTTGTACTGGTCCACG -3'
(R):5'- GCCAGTGAAATGGTTGAAGC -3'
Sequencing Primer
(F):5'- GTACTGGTCCACGCTTATTATCAC -3'
(R):5'- CATGCCATCGGTTAGAGGCTAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation