Incidental Mutation 'R5584:Etaa1'
ID 438623
Institutional Source Beutler Lab
Gene Symbol Etaa1
Ensembl Gene ENSMUSG00000016984
Gene Name Ewing tumor-associated antigen 1
Synonyms 5730466H23Rik
MMRRC Submission 043138-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5584 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 17888756-17903875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17897406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 237 (V237E)
Ref Sequence ENSEMBL: ENSMUSP00000075957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076661]
AlphaFold Q5SVT3
Predicted Effect possibly damaging
Transcript: ENSMUST00000076661
AA Change: V237E

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075957
Gene: ENSMUSG00000016984
AA Change: V237E

DomainStartEndE-ValueType
low complexity region 52 74 N/A INTRINSIC
Pfam:ETAA1 79 865 N/A PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,553,386 (GRCm39) G5496D probably damaging Het
Akr1c19 A T 13: 4,293,031 (GRCm39) Q262H probably damaging Het
Cntn5 T C 9: 9,661,457 (GRCm39) T1070A possibly damaging Het
Efcab14 T C 4: 115,621,794 (GRCm39) V358A possibly damaging Het
Epb41l4a G T 18: 33,987,324 (GRCm39) T351N probably damaging Het
Ezh2 A T 6: 47,508,950 (GRCm39) N684K probably damaging Het
Flnc A G 6: 29,446,627 (GRCm39) T946A probably damaging Het
Fstl5 T A 3: 76,229,574 (GRCm39) I125N probably damaging Het
Gcsam A C 16: 45,440,226 (GRCm39) I90L probably benign Het
Glrx T A 13: 75,995,341 (GRCm39) I87N probably benign Het
Hivep1 T A 13: 42,313,593 (GRCm39) N1944K probably benign Het
Lrp2 T C 2: 69,281,632 (GRCm39) D3913G probably damaging Het
Ltb4r1 T A 14: 56,004,844 (GRCm39) M49K possibly damaging Het
Mbip A G 12: 56,382,647 (GRCm39) I273T probably damaging Het
Mis18bp1 A T 12: 65,201,550 (GRCm39) S384T probably damaging Het
Nlrp4e T G 7: 23,020,602 (GRCm39) I363S probably benign Het
Nrg3 CCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGC 14: 39,194,654 (GRCm39) probably benign Het
Pcdha11 C A 18: 37,139,818 (GRCm39) D482E probably damaging Het
Plppr3 T C 10: 79,702,286 (GRCm39) Y262C probably damaging Het
Ppip5k2 T C 1: 97,678,366 (GRCm39) K284E probably damaging Het
Rabggta T C 14: 55,958,289 (GRCm39) N124S probably benign Het
Rbm46 C A 3: 82,771,465 (GRCm39) M383I probably benign Het
Rfx1 G A 8: 84,814,706 (GRCm39) probably null Het
Sema3d T C 5: 12,615,975 (GRCm39) V493A possibly damaging Het
Sema3d T C 5: 12,620,954 (GRCm39) V520A possibly damaging Het
Sis C G 3: 72,817,748 (GRCm39) W1488C probably damaging Het
Slc6a20a A G 9: 123,469,753 (GRCm39) F411S probably damaging Het
Srcap T A 7: 127,127,651 (GRCm39) N405K probably damaging Het
Thnsl1 C T 2: 21,218,223 (GRCm39) P138L probably damaging Het
Trim27 T A 13: 21,376,719 (GRCm39) I489N probably damaging Het
Triobp G A 15: 78,852,332 (GRCm39) V829I possibly damaging Het
Unc119 A G 11: 78,239,396 (GRCm39) D217G probably damaging Het
Ushbp1 T C 8: 71,843,623 (GRCm39) T272A possibly damaging Het
Zfpm2 A T 15: 40,965,933 (GRCm39) N806I probably benign Het
Znrf3 T C 11: 5,236,218 (GRCm39) E164G probably damaging Het
Other mutations in Etaa1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCCACTACACATCTGAGTGGAAC -3'
(R):5'- AATTTTGGTGTTTCGTCACACG -3'

Sequencing Primer
(F):5'- CTGAGTGGAACCATCAAATATAGC -3'
(R):5'- CGTCACACGAAACTATACTAAACAG -3'
Posted On 2016-10-26