Incidental Mutation 'R1816:Eaf2'
ID 204449
Institutional Source Beutler Lab
Gene Symbol Eaf2
Ensembl Gene ENSMUSG00000022838
Gene Name ELL associated factor 2
Synonyms FESTA-L, U19, Festa, Traits, FESTA-S
MMRRC Submission 039844-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.732) question?
Stock # R1816 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 36613246-36695275 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 36628371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023537] [ENSMUST00000075946] [ENSMUST00000114825] [ENSMUST00000114829]
AlphaFold Q91ZD6
Predicted Effect probably benign
Transcript: ENSMUST00000023537
SMART Domains Protein: ENSMUSP00000023537
Gene: ENSMUSG00000022838

DomainStartEndE-ValueType
Pfam:EAF 14 116 1.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000075946
SMART Domains Protein: ENSMUSP00000075331
Gene: ENSMUSG00000022838

DomainStartEndE-ValueType
low complexity region 44 71 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114825
SMART Domains Protein: ENSMUSP00000110473
Gene: ENSMUSG00000022838

DomainStartEndE-ValueType
low complexity region 44 71 N/A INTRINSIC
low complexity region 117 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114829
SMART Domains Protein: ENSMUSP00000110477
Gene: ENSMUSG00000022838

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.9%
Validation Efficiency 99% (72/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,644,222 (GRCm39) Y721* probably null Het
4933405L10Rik T A 8: 106,436,491 (GRCm39) V220E possibly damaging Het
4933434E20Rik T C 3: 89,960,398 (GRCm39) V13A possibly damaging Het
Adam1b T G 5: 121,639,788 (GRCm39) Q419P probably damaging Het
Ankib1 A G 5: 3,784,028 (GRCm39) V316A probably benign Het
Anks1 T A 17: 28,205,547 (GRCm39) D294E probably damaging Het
Atr T C 9: 95,748,747 (GRCm39) S431P probably benign Het
Bfsp1 C T 2: 143,683,599 (GRCm39) A242T probably benign Het
Bptf A T 11: 106,951,405 (GRCm39) V279E probably damaging Het
Camkk2 A G 5: 122,872,243 (GRCm39) L540P probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Ceacam12 T A 7: 17,805,690 (GRCm39) probably null Het
Cntnap5a G T 1: 116,356,618 (GRCm39) A823S probably benign Het
Cp T C 3: 20,022,384 (GRCm39) probably benign Het
Dhx58 A G 11: 100,593,978 (GRCm39) V163A probably damaging Het
Dicer1 T C 12: 104,688,410 (GRCm39) E389G probably damaging Het
Disp1 T A 1: 182,880,139 (GRCm39) D288V probably damaging Het
Dnah7a A G 1: 53,670,901 (GRCm39) probably benign Het
Efna1 T C 3: 89,183,694 (GRCm39) N44S possibly damaging Het
Etnppl T C 3: 130,428,211 (GRCm39) I462T probably benign Het
Fam83d G T 2: 158,610,070 (GRCm39) A13S possibly damaging Het
Fer1l4 C T 2: 155,877,119 (GRCm39) V1139M probably damaging Het
Fstl1 A G 16: 37,647,086 (GRCm39) probably null Het
Gm14226 A T 2: 154,867,549 (GRCm39) D502V probably damaging Het
Gm5117 T A 8: 32,228,986 (GRCm39) noncoding transcript Het
Gm973 A G 1: 59,621,558 (GRCm39) N566S probably damaging Het
Grm7 A T 6: 111,472,752 (GRCm39) K16* probably null Het
Hbb-bh2 G A 7: 103,489,585 (GRCm39) T17I possibly damaging Het
Htt C T 5: 34,961,084 (GRCm39) A237V probably benign Het
Itga6 T C 2: 71,671,153 (GRCm39) V665A probably benign Het
Klf4 G T 4: 55,530,977 (GRCm39) R45S probably benign Het
Mki67 T C 7: 135,309,116 (GRCm39) D445G possibly damaging Het
Myo10 T C 15: 25,800,286 (GRCm39) V1454A probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt12 G A 17: 59,317,131 (GRCm39) P172L probably damaging Het
Odam A G 5: 88,037,329 (GRCm39) probably null Het
Or1e33 T C 11: 73,738,025 (GRCm39) K309E probably benign Het
Or2ag13 A T 7: 106,472,695 (GRCm39) Y252* probably null Het
Or4p18 T G 2: 88,232,943 (GRCm39) I112L possibly damaging Het
Or5g29 G T 2: 85,421,269 (GRCm39) K128N probably benign Het
Or5p80 T C 7: 108,229,364 (GRCm39) L55P probably damaging Het
Or8k33 A T 2: 86,384,011 (GRCm39) C152* probably null Het
Pcm1 T A 8: 41,762,574 (GRCm39) S1412T probably damaging Het
Pgap1 A G 1: 54,531,216 (GRCm39) L753P probably damaging Het
Pi4k2b T C 5: 52,908,088 (GRCm39) S153P probably damaging Het
Pik3c2b C T 1: 133,029,108 (GRCm39) A1398V probably benign Het
Pkhd1l1 T C 15: 44,391,635 (GRCm39) I1567T possibly damaging Het
Rapgef6 G A 11: 54,585,314 (GRCm39) V1571I probably benign Het
Rfx2 C A 17: 57,115,305 (GRCm39) E5* probably null Het
Sh3tc1 C A 5: 35,857,928 (GRCm39) probably null Het
Slc22a12 G A 19: 6,592,683 (GRCm39) Q20* probably null Het
Slc4a1 A G 11: 102,242,056 (GRCm39) C861R probably damaging Het
Snrnp25 G A 11: 32,157,565 (GRCm39) V48I probably damaging Het
Spata1 G T 3: 146,186,962 (GRCm39) P211Q probably damaging Het
Srgap1 G A 10: 121,761,876 (GRCm39) Q91* probably null Het
Stab1 T C 14: 30,879,422 (GRCm39) D686G probably benign Het
Stx8 T A 11: 67,902,152 (GRCm39) M112K possibly damaging Het
Tfap2b A T 1: 19,279,436 (GRCm39) K15N probably damaging Het
Thbs2 C A 17: 14,890,975 (GRCm39) D1052Y probably benign Het
Thbs2 T A 17: 14,890,976 (GRCm39) E1051D probably benign Het
Thoc2l A G 5: 104,665,700 (GRCm39) D74G probably benign Het
Tlr2 T C 3: 83,745,516 (GRCm39) Y189C probably damaging Het
Tmem268 C A 4: 63,483,947 (GRCm39) P55T possibly damaging Het
Tnpo3 T C 6: 29,557,016 (GRCm39) H745R probably benign Het
Trappc14 A G 5: 138,258,603 (GRCm39) V548A possibly damaging Het
Ube2s T C 7: 4,814,554 (GRCm39) N2S probably damaging Het
Ulk1 A G 5: 110,935,697 (GRCm39) Y39H probably damaging Het
Vmn1r49 G T 6: 90,049,785 (GRCm39) D72E possibly damaging Het
Vmn2r27 C A 6: 124,207,330 (GRCm39) G104* probably null Het
Vmn2r92 A G 17: 18,386,939 (GRCm39) I93V probably damaging Het
Zdhhc20 A T 14: 58,127,600 (GRCm39) V13E probably benign Het
Zfp958 A T 8: 4,679,147 (GRCm39) I391F possibly damaging Het
Other mutations in Eaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Eaf2 APN 16 36,621,038 (GRCm39) missense probably benign 0.28
IGL01394:Eaf2 APN 16 36,630,928 (GRCm39) missense probably damaging 1.00
IGL03065:Eaf2 APN 16 36,648,484 (GRCm39) missense probably benign 0.00
R0012:Eaf2 UTSW 16 36,628,536 (GRCm39) splice site probably benign
R0036:Eaf2 UTSW 16 36,621,020 (GRCm39) missense probably benign 0.01
R1629:Eaf2 UTSW 16 36,645,063 (GRCm39) missense probably damaging 0.99
R1779:Eaf2 UTSW 16 36,630,832 (GRCm39) critical splice donor site probably null
R1881:Eaf2 UTSW 16 36,620,941 (GRCm39) splice site probably benign
R4376:Eaf2 UTSW 16 36,620,998 (GRCm39) missense unknown
R7360:Eaf2 UTSW 16 36,648,514 (GRCm39) missense probably benign
R7764:Eaf2 UTSW 16 36,645,045 (GRCm39) missense probably damaging 1.00
R7919:Eaf2 UTSW 16 36,630,914 (GRCm39) missense probably damaging 1.00
Z1177:Eaf2 UTSW 16 36,645,024 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTGTCCTCCTGCAAGAAGG -3'
(R):5'- CACTGGAGAGGTTTCTAAAGACC -3'

Sequencing Primer
(F):5'- GTCCTCCTGCAAGAAGGGACAC -3'
(R):5'- CTGGAGAGGTTTCTAAAGACCACATG -3'
Posted On 2014-06-23