Incidental Mutation 'IGL01391:Etaa1'
ID79192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Etaa1
Ensembl Gene ENSMUSG00000016984
Gene NameEwing tumor-associated antigen 1
Synonyms5730466H23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01391
Quality Score
Status
Chromosome11
Chromosomal Location17938756-17953875 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 17946005 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 704 (T704I)
Ref Sequence ENSEMBL: ENSMUSP00000075957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076661]
Predicted Effect probably damaging
Transcript: ENSMUST00000076661
AA Change: T704I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075957
Gene: ENSMUSG00000016984
AA Change: T704I

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 T A 8: 22,799,647 I147F probably benign Het
Areg T A 5: 91,141,095 S87T probably damaging Het
Arid1b T A 17: 5,318,858 probably benign Het
Arl6ip6 A G 2: 53,192,144 R8G probably benign Het
Brms1 A G 19: 5,046,695 E135G possibly damaging Het
Ccser1 A G 6: 61,638,521 probably benign Het
Dock3 A T 9: 106,907,234 M258K possibly damaging Het
Epb41l4a T G 18: 33,801,625 D562A possibly damaging Het
Fer1l4 T A 2: 156,036,456 H972L probably damaging Het
Foxn1 A G 11: 78,361,494 M356T probably damaging Het
Gfral C A 9: 76,164,825 G388* probably null Het
Gm10436 C T 12: 88,178,455 V34I possibly damaging Het
Gm12258 A G 11: 58,848,694 T3A probably benign Het
Hoxa5 T C 6: 52,204,331 N7S probably damaging Het
Itgb4 T C 11: 115,990,920 L765P probably damaging Het
Jchain C T 5: 88,521,524 C90Y probably damaging Het
Klhl40 A G 9: 121,778,917 Y381C probably damaging Het
Lhx6 A T 2: 36,103,465 C74S probably benign Het
Magel2 A G 7: 62,380,884 S1179G unknown Het
Mapre3 T C 5: 30,864,897 I236T probably damaging Het
Mcf2l A T 8: 13,014,010 probably null Het
Med13 A T 11: 86,328,497 H374Q probably benign Het
Meioc A G 11: 102,674,287 Y187C probably benign Het
Myh1 G A 11: 67,217,863 M1368I probably benign Het
Olfr304 A T 7: 86,386,000 I220N possibly damaging Het
Olfr921 A G 9: 38,775,530 I92V probably damaging Het
Phrf1 T C 7: 141,262,481 Y1501H probably damaging Het
Pigb T C 9: 73,022,291 T337A probably damaging Het
Pls1 T C 9: 95,773,698 K334E probably benign Het
Rab3b T C 4: 108,940,802 C226R probably damaging Het
Ryr2 A T 13: 11,556,685 I4889N possibly damaging Het
Serpinb1a G A 13: 32,845,415 S210L probably benign Het
Slc52a3 A G 2: 152,007,602 I390V probably benign Het
Slc6a7 C A 18: 61,003,310 A340S probably damaging Het
Tcaf3 T C 6: 42,593,681 Y379C probably damaging Het
Tex261 A G 6: 83,771,240 V180A probably benign Het
Tnnt1 C T 7: 4,514,212 probably null Het
Ttn T C 2: 76,968,503 T476A possibly damaging Het
Vcan A G 13: 89,704,169 S891P probably benign Het
Vmn2r16 T A 5: 109,363,761 D611E possibly damaging Het
Vmn2r68 T C 7: 85,237,611 T32A probably benign Het
Vwde T G 6: 13,190,527 S522R probably benign Het
Wdr3 G A 3: 100,146,789 probably benign Het
Wfs1 G T 5: 36,971,563 Q288K probably benign Het
Zfp142 A G 1: 74,579,540 V120A probably damaging Het
Zfp672 A G 11: 58,317,366 F43S probably damaging Het
Znhit3 A T 11: 84,911,457 probably benign Het
Other mutations in Etaa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Etaa1 APN 11 17947825 nonsense probably null
IGL00555:Etaa1 APN 11 17947535 missense probably damaging 1.00
IGL01098:Etaa1 APN 11 17946059 missense probably damaging 0.99
IGL01100:Etaa1 APN 11 17952576 critical splice donor site probably null
IGL01312:Etaa1 APN 11 17945909 missense probably damaging 1.00
IGL01607:Etaa1 APN 11 17953637 missense probably benign 0.00
IGL02066:Etaa1 APN 11 17946687 missense probably benign
R0401:Etaa1 UTSW 11 17947514 missense probably damaging 1.00
R0413:Etaa1 UTSW 11 17946350 nonsense probably null
R0790:Etaa1 UTSW 11 17946051 missense probably benign 0.00
R1442:Etaa1 UTSW 11 17947201 missense probably benign 0.19
R1447:Etaa1 UTSW 11 17946625 missense possibly damaging 0.92
R1647:Etaa1 UTSW 11 17946492 missense probably damaging 0.99
R1945:Etaa1 UTSW 11 17947233 missense probably damaging 0.96
R1996:Etaa1 UTSW 11 17952671 missense probably damaging 1.00
R2211:Etaa1 UTSW 11 17952686 nonsense probably null
R2338:Etaa1 UTSW 11 17945605 critical splice donor site probably null
R3027:Etaa1 UTSW 11 17947886 missense probably damaging 1.00
R3546:Etaa1 UTSW 11 17953823 start gained probably benign
R4118:Etaa1 UTSW 11 17946180 missense probably benign 0.18
R4156:Etaa1 UTSW 11 17940281 missense probably damaging 1.00
R4657:Etaa1 UTSW 11 17946964 missense possibly damaging 0.81
R4882:Etaa1 UTSW 11 17946174 missense probably benign 0.10
R4914:Etaa1 UTSW 11 17946532 missense probably benign 0.05
R4978:Etaa1 UTSW 11 17946581 missense probably damaging 0.99
R5202:Etaa1 UTSW 11 17947853 missense probably damaging 1.00
R5384:Etaa1 UTSW 11 17947539 missense probably damaging 1.00
R5584:Etaa1 UTSW 11 17947406 missense possibly damaging 0.72
R6303:Etaa1 UTSW 11 17947505 missense probably damaging 1.00
R6304:Etaa1 UTSW 11 17947505 missense probably damaging 1.00
R6351:Etaa1 UTSW 11 17947188 missense possibly damaging 0.95
R6391:Etaa1 UTSW 11 17946833 missense probably benign 0.04
R6685:Etaa1 UTSW 11 17953582 missense probably benign 0.40
R6705:Etaa1 UTSW 11 17945639 missense probably benign 0.02
R6807:Etaa1 UTSW 11 17952680 missense probably benign
R6863:Etaa1 UTSW 11 17953794 start codon destroyed probably benign 0.01
R6985:Etaa1 UTSW 11 17946108 missense probably damaging 0.99
R7129:Etaa1 UTSW 11 17940339 missense possibly damaging 0.92
R7429:Etaa1 UTSW 11 17940281 missense probably damaging 1.00
R8093:Etaa1 UTSW 11 17947559 missense possibly damaging 0.92
R8220:Etaa1 UTSW 11 17945690 missense probably benign 0.01
R8512:Etaa1 UTSW 11 17947442 missense probably damaging 1.00
Z1088:Etaa1 UTSW 11 17946465 missense possibly damaging 0.74
Posted On2013-11-05