Incidental Mutation 'R6705:Etaa1'
| ID |
528909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Etaa1
|
| Ensembl Gene |
ENSMUSG00000016984 |
| Gene Name |
Ewing tumor-associated antigen 1 |
| Synonyms |
5730466H23Rik |
| MMRRC Submission |
044823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6705 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
17888756-17903875 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17895639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 826
(N826S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076661]
|
| AlphaFold |
Q5SVT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076661
AA Change: N826S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000075957
Gene: ENSMUSG00000016984
AA Change: N826S
| 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: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,204,253 (GRCm39) |
T46I |
probably benign |
Het |
| Afdn |
G |
A |
17: 14,108,283 (GRCm39) |
V1269I |
probably benign |
Het |
| Aldh5a1 |
A |
T |
13: 25,096,253 (GRCm39) |
N448K |
probably damaging |
Het |
| Cant1 |
G |
T |
11: 118,298,698 (GRCm39) |
T355K |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,471,853 (GRCm39) |
L25Q |
probably damaging |
Het |
| Comp |
C |
A |
8: 70,829,387 (GRCm39) |
N321K |
probably damaging |
Het |
| D1Pas1 |
G |
T |
1: 186,700,576 (GRCm39) |
E168D |
probably benign |
Het |
| Ddx23 |
G |
A |
15: 98,550,849 (GRCm39) |
R111* |
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Erlin2 |
T |
A |
8: 27,526,468 (GRCm39) |
L276Q |
probably damaging |
Het |
| Fam168b |
A |
T |
1: 34,867,864 (GRCm39) |
N45K |
probably damaging |
Het |
| Gas2l2 |
G |
A |
11: 83,313,462 (GRCm39) |
R617* |
probably null |
Het |
| Gtf3c2 |
C |
A |
5: 31,323,352 (GRCm39) |
C533F |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,092,062 (GRCm39) |
T676A |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,925,716 (GRCm39) |
|
probably null |
Het |
| Igkv3-7 |
A |
T |
6: 70,585,004 (GRCm39) |
S95C |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,952,926 (GRCm39) |
I899V |
probably damaging |
Het |
| Lgr5 |
G |
A |
10: 115,423,193 (GRCm39) |
S69F |
probably damaging |
Het |
| Lrrc55 |
A |
T |
2: 85,026,699 (GRCm39) |
D108E |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,429,027 (GRCm39) |
N667S |
possibly damaging |
Het |
| Myf6 |
C |
T |
10: 107,329,690 (GRCm39) |
V198M |
possibly damaging |
Het |
| Nav2 |
T |
C |
7: 49,201,664 (GRCm39) |
S1413P |
probably damaging |
Het |
| Nfe2l1 |
A |
C |
11: 96,718,451 (GRCm39) |
V28G |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,064,942 (GRCm39) |
T186K |
possibly damaging |
Het |
| Or13a18 |
T |
A |
7: 140,190,697 (GRCm39) |
M206K |
probably damaging |
Het |
| Or6c1b |
G |
A |
10: 129,272,941 (GRCm39) |
D87N |
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,658,030 (GRCm39) |
I200N |
possibly damaging |
Het |
| Or8b4 |
T |
A |
9: 37,830,080 (GRCm39) |
N42K |
probably damaging |
Het |
| Ppfia1 |
G |
A |
7: 144,072,911 (GRCm39) |
T301M |
possibly damaging |
Het |
| Ppp1r14c |
A |
T |
10: 3,316,890 (GRCm39) |
Y75F |
probably damaging |
Het |
| Ppp1r3g |
C |
A |
13: 36,152,880 (GRCm39) |
A100E |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,823,493 (GRCm39) |
T1557A |
probably benign |
Het |
| Shc1 |
C |
T |
3: 89,330,266 (GRCm39) |
R67* |
probably null |
Het |
| Skint10 |
A |
T |
4: 112,630,301 (GRCm39) |
|
probably benign |
Het |
| Slk |
A |
G |
19: 47,597,498 (GRCm39) |
N102S |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,332,203 (GRCm39) |
|
probably benign |
Het |
| Tiam2 |
G |
A |
17: 3,568,518 (GRCm39) |
V1555I |
probably benign |
Het |
| Vmn1r174 |
C |
A |
7: 23,453,851 (GRCm39) |
S172R |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,151,157 (GRCm39) |
N823K |
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,154,852 (GRCm39) |
Y22N |
probably damaging |
Het |
| Xrn2 |
A |
G |
2: 146,878,582 (GRCm39) |
|
probably null |
Het |
| Zbp1 |
A |
T |
2: 173,055,680 (GRCm39) |
C161* |
probably null |
Het |
| Zfp236 |
T |
A |
18: 82,651,862 (GRCm39) |
E821V |
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 |
|
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 |
|
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'- CTCAAGATGCACCTTTTGAGG -3'
(R):5'- ACAGCTTAGCAGATACAGCTCAG -3'
Sequencing Primer
(F):5'- TGCACCTTTTGAGGTATGATTAATG -3'
(R):5'- GCTTAGCAGATACAGCTCAGAATGAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation