Incidental Mutation 'R6303:Etaa1'
ID 509162
Institutional Source Beutler Lab
Gene Symbol Etaa1
Ensembl Gene ENSMUSG00000016984
Gene Name Ewing tumor-associated antigen 1
Synonyms 5730466H23Rik
MMRRC Submission 044410-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6303 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 17888756-17903875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 17897505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 204 (M204R)
Ref Sequence ENSEMBL: ENSMUSP00000075957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076661]
AlphaFold Q5SVT3
Predicted Effect probably damaging
Transcript: ENSMUST00000076661
AA Change: M204R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075957
Gene: ENSMUSG00000016984
AA Change: M204R

DomainStartEndE-ValueType
low complexity region 52 74 N/A INTRINSIC
Pfam:ETAA1 79 865 N/A PFAM
Meta Mutation Damage Score 0.1943 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9b T A 15: 77,619,504 (GRCm39) V100E probably damaging Het
Bin3 A G 14: 70,374,625 (GRCm39) D218G possibly damaging Het
Cobll1 A T 2: 64,928,377 (GRCm39) M982K possibly damaging Het
Crybg2 T C 4: 133,814,898 (GRCm39) V1593A possibly damaging Het
Ctsh A G 9: 89,944,796 (GRCm39) S76G possibly damaging Het
Dnajc10 T G 2: 80,181,008 (GRCm39) D767E probably benign Het
Elapor1 A C 3: 108,368,572 (GRCm39) C806W probably damaging Het
Fbxw16 A T 9: 109,278,169 (GRCm39) I3N probably benign Het
Fndc1 T C 17: 7,977,317 (GRCm39) E1394G probably damaging Het
Gm19410 T C 8: 36,274,714 (GRCm39) C1512R possibly damaging Het
Gramd4 A G 15: 86,019,120 (GRCm39) E596G possibly damaging Het
Hephl1 C A 9: 15,001,448 (GRCm39) V226F possibly damaging Het
Ilf3 G A 9: 21,314,432 (GRCm39) probably benign Het
Kcnh3 T C 15: 99,124,919 (GRCm39) V123A probably benign Het
Kdm2b A G 5: 123,019,807 (GRCm39) S260P probably benign Het
Lingo4 G A 3: 94,310,513 (GRCm39) G484R probably damaging Het
Lrrc10b T C 19: 10,434,342 (GRCm39) Q113R probably benign Het
Lrrc8c A T 5: 105,756,475 (GRCm39) N750I probably benign Het
Mtcl2 T C 2: 156,882,684 (GRCm39) N456S possibly damaging Het
Nlrp2 A G 7: 5,340,760 (GRCm39) L18P probably damaging Het
Nrp2 T C 1: 62,784,565 (GRCm39) L238P probably damaging Het
Nup155 T C 15: 8,147,526 (GRCm39) S262P probably damaging Het
Or51k1 G A 7: 103,661,238 (GRCm39) L224F probably damaging Het
Pappa G A 4: 65,122,891 (GRCm39) G742D probably damaging Het
Pclo A T 5: 14,727,907 (GRCm39) probably benign Het
Phyhipl A G 10: 70,395,387 (GRCm39) probably null Het
Plcg1 A G 2: 160,603,383 (GRCm39) T1185A possibly damaging Het
Plscr5 A T 9: 92,087,609 (GRCm39) I193F probably benign Het
Polr1b G A 2: 128,957,682 (GRCm39) R579H probably damaging Het
Polr2a A T 11: 69,637,739 (GRCm39) W202R probably damaging Het
Ppp4r1 A G 17: 66,131,724 (GRCm39) K489E probably benign Het
Qser1 G A 2: 104,593,175 (GRCm39) T1704I probably damaging Het
Sik1 A G 17: 32,065,270 (GRCm39) V776A probably damaging Het
Spata31h1 T A 10: 82,126,202 (GRCm39) K2269N possibly damaging Het
Spice1 A G 16: 44,191,060 (GRCm39) M305V probably benign Het
Taf4b T C 18: 14,940,412 (GRCm39) I297T probably damaging Het
Trim14 C A 4: 46,522,118 (GRCm39) M186I probably benign Het
Usp49 C A 17: 47,991,747 (GRCm39) Q670K probably damaging Het
Usp54 T C 14: 20,611,036 (GRCm39) D1260G possibly damaging Het
Vmn1r224 T A 17: 20,640,028 (GRCm39) S202T possibly damaging Het
Vmn1r3 T A 4: 3,184,975 (GRCm39) T111S probably damaging Het
Zfp985 A G 4: 147,668,232 (GRCm39) I367V probably benign 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
R5584:Etaa1 UTSW 11 17,897,406 (GRCm39) missense possibly damaging 0.72
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'- TGTCTTGTGCCTTTGCCAAG -3'
(R):5'- TCCTGAAAGTCAGTGAGGCAG -3'

Sequencing Primer
(F):5'- GCCAAGGATATTCTACTGTCTCC -3'
(R):5'- AGGCGCTCCATTCTTGCTCATAG -3'
Posted On 2018-04-02