Incidental Mutation 'IGL00555:Etaa1'
ID 6076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etaa1
Ensembl Gene ENSMUSG00000016984
Gene Name Ewing tumor-associated antigen 1
Synonyms 5730466H23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00555
Quality Score
Status
Chromosome 11
Chromosomal Location 17888756-17903875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17897535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 194 (M194K)
Ref Sequence ENSEMBL: ENSMUSP00000075957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076661]
AlphaFold Q5SVT3
Predicted Effect probably damaging
Transcript: ENSMUST00000076661
AA Change: M194K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075957
Gene: ENSMUSG00000016984
AA Change: M194K

DomainStartEndE-ValueType
low complexity region 52 74 N/A INTRINSIC
Pfam:ETAA1 79 865 N/A PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,378,110 (GRCm39) V692A probably damaging Het
Ankrd12 A G 17: 66,291,971 (GRCm39) V1154A probably benign Het
Asnsd1 T C 1: 53,385,787 (GRCm39) N529S probably damaging Het
C1ra T C 6: 124,499,250 (GRCm39) F479L probably benign Het
Cdh9 T C 15: 16,823,492 (GRCm39) F158S probably damaging Het
Flvcr2 A T 12: 85,794,097 (GRCm39) I158F possibly damaging Het
Mtss1 A G 15: 58,823,317 (GRCm39) probably null Het
Ngf A G 3: 102,427,788 (GRCm39) H179R probably damaging Het
Plbd2 A T 5: 120,623,875 (GRCm39) M549K possibly damaging Het
Shc3 A G 13: 51,615,379 (GRCm39) S193P probably damaging Het
Tat A G 8: 110,725,417 (GRCm39) T421A probably benign Het
Tbcel G T 9: 42,354,333 (GRCm39) T165K probably benign Het
Tesl2 A G X: 23,824,191 (GRCm39) I328T probably benign Het
Trim44 A G 2: 102,134,824 (GRCm39) *346R probably null Het
Uba6 A T 5: 86,267,266 (GRCm39) F921I possibly damaging Het
Other mutations in Etaa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Etaa1 APN 11 17,897,825 (GRCm39) nonsense probably null
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
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
Posted On 2012-04-20