Incidental Mutation 'R6304:Etaa1'
ID 509206
Institutional Source Beutler Lab
Gene Symbol Etaa1
Ensembl Gene ENSMUSG00000016984
Gene Name Ewing tumor-associated antigen 1
Synonyms 5730466H23Rik
MMRRC Submission 044380-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6304 (G1)
Quality Score 225.009
Status Not 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: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 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
Cbll1 A G 12: 31,544,588 (GRCm39) probably null Het
Cped1 A T 6: 22,016,922 (GRCm39) R90S probably benign Het
Csmd1 A T 8: 16,108,688 (GRCm39) L1905Q probably damaging Het
Dnai4 T C 4: 102,944,553 (GRCm39) E266G probably benign Het
Elapor1 A C 3: 108,368,572 (GRCm39) C806W probably damaging Het
G6pc1 A G 11: 101,258,735 (GRCm39) D38G probably damaging Het
Gramd4 A G 15: 86,019,120 (GRCm39) E596G possibly damaging Het
Ifna5 T C 4: 88,754,147 (GRCm39) V129A probably benign Het
Igsf9b C T 9: 27,253,871 (GRCm39) R1354W probably benign Het
Kcnh3 T C 15: 99,124,919 (GRCm39) V123A probably benign Het
Kcnh7 A T 2: 62,594,960 (GRCm39) Y703* probably null Het
Kdm2b A G 5: 123,019,807 (GRCm39) S260P probably benign Het
Kdm6b G T 11: 69,295,084 (GRCm39) T1061K unknown Het
Lingo4 G A 3: 94,310,513 (GRCm39) G484R probably damaging Het
Lpar1 T C 4: 58,487,013 (GRCm39) Y86C 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
Miip T C 4: 147,947,540 (GRCm39) M207V probably benign Het
Mtcl2 T C 2: 156,882,684 (GRCm39) N456S possibly damaging Het
Mup4 T C 4: 59,960,084 (GRCm39) H60R possibly damaging Het
Naip5 C T 13: 100,359,674 (GRCm39) A521T possibly 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
Osbpl3 A G 6: 50,289,654 (GRCm39) S604P probably damaging Het
Pcdhb6 C T 18: 37,468,974 (GRCm39) R632* probably null Het
Pcdhb9 T A 18: 37,534,420 (GRCm39) V138E 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
Pomt1 T A 2: 32,140,802 (GRCm39) L478Q probably damaging Het
Robo2 T A 16: 73,755,196 (GRCm39) Y779F probably damaging Het
Sesn3 A T 9: 14,233,857 (GRCm39) probably null Het
Sh3gl1 A T 17: 56,343,431 (GRCm39) F10Y probably benign Het
Spata31h1 T A 10: 82,126,202 (GRCm39) K2269N possibly damaging Het
Spsb1 C T 4: 149,991,188 (GRCm39) V127I 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
Ttn G T 2: 76,746,079 (GRCm39) probably benign Het
Ttn A T 2: 76,721,443 (GRCm39) probably benign Het
Usp54 T C 14: 20,611,036 (GRCm39) D1260G possibly damaging Het
Vmn1r3 T A 4: 3,184,975 (GRCm39) T111S probably damaging Het
Vmn2r51 T C 7: 9,832,164 (GRCm39) Q474R 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
R6303: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