Incidental Mutation 'R0036:Eaf2'
ID 15459
Institutional Source Beutler Lab
Gene Symbol Eaf2
Ensembl Gene ENSMUSG00000022838
Gene Name ELL associated factor 2
Synonyms Traits, FESTA-L, FESTA-S, U19, Festa
MMRRC Submission 038330-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.631) question?
Stock # R0036 (G1)
Quality Score
Status Validated
Chromosome 16
Chromosomal Location 36792884-36875003 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36800658 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 224 (Y224C)
Ref Sequence ENSEMBL: ENSMUSP00000110477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023537] [ENSMUST00000075946] [ENSMUST00000114825] [ENSMUST00000114829]
AlphaFold Q91ZD6
Predicted Effect unknown
Transcript: ENSMUST00000023537
AA Change: T177A
SMART Domains Protein: ENSMUSP00000023537
Gene: ENSMUSG00000022838
AA Change: T177A

DomainStartEndE-ValueType
Pfam:EAF 14 116 1.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075946
AA Change: Y94C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000075331
Gene: ENSMUSG00000022838
AA Change: Y94C

DomainStartEndE-ValueType
low complexity region 44 71 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114825
AA Change: Y94C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110473
Gene: ENSMUSG00000022838
AA Change: Y94C

DomainStartEndE-ValueType
low complexity region 44 71 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114829
AA Change: Y224C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110477
Gene: ENSMUSG00000022838
AA Change: Y224C

DomainStartEndE-ValueType
Pfam:EAF 16 115 8.6e-24 PFAM
low complexity region 174 201 N/A INTRINSIC
low complexity region 247 262 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231782
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 79.1%
  • 3x: 69.3%
  • 10x: 43.3%
  • 20x: 23.5%
Validation Efficiency 91% (49/54)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit premature death, enlarged heart and prostate associate with hypertrophy, and increased incidence of tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik A T 19: 23,616,568 probably benign Het
Cfap44 A G 16: 44,439,069 E1098G possibly damaging Het
Ctsq C T 13: 61,037,671 probably null Het
Dock9 C T 14: 121,622,853 V886M probably damaging Het
Eif5b T A 1: 38,019,111 S165T probably benign Het
Eln A G 5: 134,711,060 probably null Het
Jakmip1 A G 5: 37,134,304 K514R probably null Het
Myo1e T A 9: 70,341,308 W435R probably damaging Het
Nadsyn1 T C 7: 143,811,291 I226V probably benign Het
Nedd4l T C 18: 65,051,123 probably benign Het
Phrf1 T C 7: 141,261,780 M1435T probably damaging Het
Ppic A T 18: 53,409,192 I148N probably damaging Het
Sdr16c6 C A 4: 4,063,335 probably benign Het
Sgo2a T C 1: 58,015,628 S324P probably benign Het
Slf1 G T 13: 77,100,951 Q373K probably benign Het
Tfg G T 16: 56,690,995 Q324K probably benign Het
Wdr64 G T 1: 175,728,930 G248* probably null Het
Other mutations in Eaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Eaf2 APN 16 36800676 missense probably benign 0.28
IGL01394:Eaf2 APN 16 36810566 missense probably damaging 1.00
IGL03065:Eaf2 APN 16 36828122 missense probably benign 0.00
R0012:Eaf2 UTSW 16 36808174 splice site probably benign
R1629:Eaf2 UTSW 16 36824701 missense probably damaging 0.99
R1779:Eaf2 UTSW 16 36810470 critical splice donor site probably null
R1816:Eaf2 UTSW 16 36808009 splice site probably benign
R1881:Eaf2 UTSW 16 36800579 splice site probably benign
R4376:Eaf2 UTSW 16 36800636 missense unknown
R7360:Eaf2 UTSW 16 36828152 missense probably benign
R7764:Eaf2 UTSW 16 36824683 missense probably damaging 1.00
R7919:Eaf2 UTSW 16 36810552 missense probably damaging 1.00
Z1177:Eaf2 UTSW 16 36824662 missense probably damaging 1.00
Posted On 2012-12-21