Incidental Mutation 'PIT4354001:Eif2s3y'
ID 554839
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.040) question?
Stock # PIT4354001 (G1)
Quality Score 222.016
Status Not validated
Chromosome Y
Chromosomal Location 1010543-1028847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 1020126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 385 (R385C)
Ref Sequence ENSEMBL: ENSMUSP00000088736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091197]
AlphaFold Q9Z0N2
Predicted Effect probably benign
Transcript: ENSMUST00000091197
AA Change: R385C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088736
Gene: ENSMUSG00000069049
AA Change: R385C

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
Coding Region Coverage
  • 1x: 92.5%
  • 3x: 90.1%
  • 10x: 83.2%
  • 20x: 69.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Hemizygous knockout leads to male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 A T 5: 62,811,392 (GRCm39) Y1140N probably damaging Het
Ccdc83 A T 7: 89,873,182 (GRCm39) M391K probably benign Het
Cntnap1 A T 11: 101,072,123 (GRCm39) I459F probably damaging Het
Cr2 T A 1: 194,848,617 (GRCm39) Y302F probably damaging Het
Ctu2 A T 8: 123,205,714 (GRCm39) D179V probably damaging Het
Cubn G A 2: 13,473,663 (GRCm39) Q427* probably null Het
Depdc7 A G 2: 104,558,533 (GRCm39) S163P probably benign Het
Gigyf1 A G 5: 137,522,366 (GRCm39) K728R unknown Het
Gm1587 G A 14: 78,034,473 (GRCm39) R32* probably null Het
Hjv T C 3: 96,435,761 (GRCm39) C340R probably damaging Het
Isy1 A G 6: 87,810,653 (GRCm39) I53T possibly damaging Het
Myh8 A T 11: 67,180,456 (GRCm39) N564I probably benign Het
Neb A T 2: 52,135,330 (GRCm39) I3260N probably damaging Het
Npc1 C T 18: 12,344,592 (GRCm39) G426E probably benign Het
Nrdc G A 4: 108,911,222 (GRCm39) probably null Het
Or2v1 G A 11: 49,025,132 (GRCm39) V38M probably damaging Het
Or4c10b T A 2: 89,711,852 (GRCm39) S227R probably benign Het
Or4c116 C A 2: 88,942,830 (GRCm39) E9* probably null Het
Pate8 T A 9: 36,492,597 (GRCm39) S103C possibly damaging Het
Prss51 T A 14: 64,334,546 (GRCm39) V91D probably damaging Het
Qpct A C 17: 79,389,188 (GRCm39) Y280S probably benign Het
Rbpms A G 8: 34,296,866 (GRCm39) V137A possibly damaging Het
Rgl2 T A 17: 34,152,914 (GRCm39) M441K possibly damaging Het
Sdhaf3 A T 6: 6,956,072 (GRCm39) I16F possibly damaging Het
Slc38a3 T G 9: 107,534,848 (GRCm39) N176H probably benign Het
Sos1 T C 17: 80,756,785 (GRCm39) S256G possibly damaging Het
Spg11 A T 2: 121,918,666 (GRCm39) C988S probably damaging Het
Sync A T 4: 129,200,447 (GRCm39) Q451L possibly damaging Het
Tbc1d31 A G 15: 57,831,329 (GRCm39) Y929C probably benign Het
Thbs2 G A 17: 14,910,230 (GRCm39) T123I probably damaging Het
Thsd7a A C 6: 12,331,926 (GRCm39) probably null Het
Tnfrsf11a T C 1: 105,749,242 (GRCm39) L220P probably damaging Het
Trbv13-2 G A 6: 41,098,752 (GRCm39) C109Y probably damaging Het
Ugt3a1 G A 15: 9,306,446 (GRCm39) W198* probably null Het
Usp14 G A 18: 9,996,189 (GRCm39) R464W probably damaging Het
Vmn1r2 C T 4: 3,172,162 (GRCm39) S27L probably benign Het
Vmn1r68 T A 7: 10,261,958 (GRCm39) N47Y probably benign Het
Zfc3h1 T A 10: 115,262,944 (GRCm39) Y1719* probably null Het
Other mutations in Eif2s3y
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5572:Eif2s3y UTSW Y 1,016,631 (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'- GACCAAATGAGTTAGTTTTAGAGATCT -3'
(R):5'- CACTCACATGACATTTTACAAAACAT -3'

Sequencing Primer
(F):5'- GAGATCTTTGGAGATATTAGT -3'
(R):5'- GCTGTTAAGAGCACCGACTGTTC -3'
Posted On 2019-06-07