Incidental Mutation 'R5572:Eif2s3y'
ID 435757
Institutional Source Beutler Lab
Gene Symbol Eif2s3y
Ensembl Gene ENSMUSG00000069049
Gene Name eukaryotic translation initiation factor 2, subunit 3, structural gene Y-linked
Synonyms Spy, Eif-2gy, Tfy
MMRRC Submission 043266-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.040) question?
Stock # R5572 (G1)
Quality Score 222
Status Validated
Chromosome Y
Chromosomal Location 1010543-1028847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 1016631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 272 (D272N)
Ref Sequence ENSEMBL: ENSMUSP00000088736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091197]
AlphaFold Q9Z0N2
Predicted Effect probably damaging
Transcript: ENSMUST00000091197
AA Change: D272N

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088736
Gene: ENSMUSG00000069049
AA Change: D272N

DomainStartEndE-ValueType
Pfam:GTP_EFTU 39 245 1.9e-23 PFAM
Pfam:GTP_EFTU_D2 276 359 2.1e-13 PFAM
Pfam:eIF2_C 369 459 1.4e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154556
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
MGI Phenotype PHENOTYPE: Hemizygous knockout leads to male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a C T 5: 8,765,108 (GRCm39) probably null Het
Abcd4 T C 12: 84,653,050 (GRCm39) D380G probably benign Het
Actr3b T A 5: 26,014,886 (GRCm39) D68E probably benign Het
Apol10a T C 15: 77,372,834 (GRCm39) S157P probably damaging Het
Arap3 A T 18: 38,124,119 (GRCm39) I327N probably damaging Het
Arnt G T 3: 95,382,015 (GRCm39) V198L possibly damaging Het
Baiap3 T A 17: 25,470,449 (GRCm39) D86V possibly damaging Het
Bcl9l G T 9: 44,412,095 (GRCm39) R27L possibly damaging Het
Bltp2 A T 11: 78,155,393 (GRCm39) D167V probably damaging Het
C1qc T C 4: 136,619,773 (GRCm39) Y34C probably benign Het
C1rb T C 6: 124,557,758 (GRCm39) S632P probably benign Het
C3 A G 17: 57,531,673 (GRCm39) S284P probably damaging Het
Cfap44 T G 16: 44,301,668 (GRCm39) V1802G possibly damaging Het
Cfhr1 A G 1: 139,484,165 (GRCm39) V117A possibly damaging Het
Clca3b T C 3: 144,533,070 (GRCm39) D654G probably damaging Het
Col17a1 A T 19: 47,639,168 (GRCm39) S1126T probably benign Het
Cts3 T A 13: 61,712,782 (GRCm39) I313F probably damaging Het
Egfl7 T C 2: 26,481,703 (GRCm39) V6A possibly damaging Het
Foxp4 A G 17: 48,191,804 (GRCm39) V111A unknown Het
Hmcn2 A T 2: 31,304,537 (GRCm39) probably null Het
Hmcn2 G A 2: 31,304,538 (GRCm39) probably null Het
Igsf11 C T 16: 38,845,294 (GRCm39) R283C probably damaging Het
Il1a A G 2: 129,149,838 (GRCm39) Y21H possibly damaging Het
Il6ra A T 3: 89,778,589 (GRCm39) V420D probably damaging Het
Kdm5a T C 6: 120,389,336 (GRCm39) V921A possibly damaging Het
Kirrel3 G A 9: 34,912,244 (GRCm39) A196T probably damaging Het
Klra1 T A 6: 130,349,802 (GRCm39) D212V possibly damaging Het
N4bp2l2 G A 5: 150,585,755 (GRCm39) T75I probably benign Het
Niban1 T C 1: 151,584,941 (GRCm39) S513P probably benign Het
Nnmt A G 9: 48,503,447 (GRCm39) L193P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Ntm A G 9: 28,925,512 (GRCm39) I191T probably damaging Het
Or2ak5 A G 11: 58,611,055 (GRCm39) V273A probably benign Het
Or52d13 A C 7: 103,109,905 (GRCm39) L170R probably benign Het
Or52h7 A T 7: 104,214,201 (GRCm39) T258S probably benign Het
Pam A C 1: 97,782,469 (GRCm39) probably benign Het
Pomk T A 8: 26,473,218 (GRCm39) H245L possibly damaging Het
Rapgef4 G A 2: 71,864,464 (GRCm39) probably null Het
Rasip1 G T 7: 45,286,153 (GRCm39) R792L probably benign Het
Ret T C 6: 118,132,392 (GRCm39) Y1016C probably damaging Het
Rhbdd1 A T 1: 82,318,531 (GRCm39) N138I possibly damaging Het
Snx13 T G 12: 35,153,119 (GRCm39) V383G probably damaging Het
Syt3 A G 7: 44,040,142 (GRCm39) H125R probably benign Het
Tlr6 A T 5: 65,112,361 (GRCm39) L182Q probably damaging Het
Tlr9 T C 9: 106,102,836 (GRCm39) V709A possibly damaging Het
Tmprss6 T C 15: 78,326,622 (GRCm39) Y655C probably damaging Het
Ttn A T 2: 76,683,972 (GRCm39) probably benign Het
Ube3a T C 7: 58,938,525 (GRCm39) I761T probably damaging Het
Ube3b G A 5: 114,544,240 (GRCm39) D546N probably damaging Het
Ugt2b36 A G 5: 87,237,341 (GRCm39) V188A possibly damaging Het
Usp29 A G 7: 6,965,191 (GRCm39) I345V probably benign Het
Vmn2r78 A G 7: 86,564,720 (GRCm39) K55R probably benign Het
Wdsub1 A G 2: 59,693,051 (GRCm39) F288L possibly damaging Het
Zan C T 5: 137,392,693 (GRCm39) V4601M unknown Het
Zbtb8b T C 4: 129,322,334 (GRCm39) K376E probably damaging Het
Zfp619 A T 7: 39,184,663 (GRCm39) Y231F probably benign Het
Other mutations in Eif2s3y
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4354001:Eif2s3y UTSW Y 1,020,126 (GRCm39) missense probably benign 0.00
R1778:Eif2s3y UTSW Y 1,011,287 (GRCm39) missense probably benign 0.31
R2967:Eif2s3y UTSW Y 1,020,030 (GRCm39) missense probably benign
R3941:Eif2s3y UTSW Y 1,012,079 (GRCm39) missense probably benign 0.04
R4956:Eif2s3y UTSW Y 1,023,407 (GRCm39) missense possibly damaging 0.92
R5457:Eif2s3y UTSW Y 1,016,057 (GRCm39) missense probably damaging 0.96
R5913:Eif2s3y UTSW Y 1,017,365 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- ACCTTTTGGCCCTTGATTGA -3'
(R):5'- ACAGCTTGCCTAGTGATGGTA -3'

Sequencing Primer
(F):5'- CCTGGAACTTACTTTCTAGACGAGG -3'
(R):5'- TGGGAAATAGGAGTTGCAAT -3'
Posted On 2016-10-24