Incidental Mutation 'R0183:Eaf1'
ID 23920
Institutional Source Beutler Lab
Gene Symbol Eaf1
Ensembl Gene ENSMUSG00000021890
Gene Name ELL associated factor 1
Synonyms 4933403C17Rik
MMRRC Submission 038448-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0183 (G1)
Quality Score 221
Status Not validated
Chromosome 14
Chromosomal Location 31217036-31231815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31217272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 16 (L16Q)
Ref Sequence ENSEMBL: ENSMUSP00000022446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022446] [ENSMUST00000055303] [ENSMUST00000227595] [ENSMUST00000227777] [ENSMUST00000228181] [ENSMUST00000228727] [ENSMUST00000228943]
AlphaFold Q9D4C5
Predicted Effect probably damaging
Transcript: ENSMUST00000022446
AA Change: L16Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022446
Gene: ENSMUSG00000021890
AA Change: L16Q

DomainStartEndE-ValueType
Pfam:EAF 14 114 3.4e-26 PFAM
low complexity region 125 153 N/A INTRINSIC
low complexity region 188 211 N/A INTRINSIC
low complexity region 218 232 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055303
SMART Domains Protein: ENSMUSP00000077138
Gene: ENSMUSG00000021891

DomainStartEndE-ValueType
Pfam:Methyltransf_23 49 241 3.3e-13 PFAM
Pfam:Methyltransf_31 77 215 5.1e-9 PFAM
Pfam:Methyltransf_18 79 190 5.8e-10 PFAM
Pfam:Methyltransf_12 84 183 5.9e-17 PFAM
Pfam:Methyltransf_11 84 187 3.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227595
Predicted Effect probably benign
Transcript: ENSMUST00000227777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227852
Predicted Effect probably benign
Transcript: ENSMUST00000228181
Predicted Effect probably benign
Transcript: ENSMUST00000228727
Predicted Effect probably benign
Transcript: ENSMUST00000228943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228952
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 84% (42/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C T 5: 77,034,082 (GRCm39) D490N probably benign Het
Aatf A T 11: 84,401,251 (GRCm39) probably null Het
Amer3 T A 1: 34,626,838 (GRCm39) I359K probably damaging Het
Appl1 A T 14: 26,684,811 (GRCm39) D79E probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Baz1a T A 12: 54,958,172 (GRCm39) E1026D probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Card14 C T 11: 119,217,524 (GRCm39) R386C probably damaging Het
Cenpb T C 2: 131,020,373 (GRCm39) probably benign Het
Clcn4 G A 7: 7,298,090 (GRCm39) Q40* probably null Het
Clec16a T C 16: 10,377,886 (GRCm39) Y28H probably damaging Het
Cul4a T C 8: 13,183,790 (GRCm39) S393P probably damaging Het
Dcbld2 A G 16: 58,265,722 (GRCm39) D194G possibly damaging Het
Dnah6 C T 6: 73,059,906 (GRCm39) V2841I probably damaging Het
Eef1e1 C T 13: 38,840,162 (GRCm39) A48T probably damaging Het
Exoc3l C A 8: 106,021,932 (GRCm39) R57L probably damaging Het
Faf1 A G 4: 109,792,807 (GRCm39) N593S probably benign Het
Fosb A G 7: 19,041,310 (GRCm39) I61T probably damaging Het
Fstl5 A C 3: 76,229,579 (GRCm39) I127L possibly damaging Het
Gas2l2 T A 11: 83,319,882 (GRCm39) M125L probably benign Het
Gcnt1 C T 19: 17,306,481 (GRCm39) D415N probably benign Het
Gtpbp4 A G 13: 9,024,997 (GRCm39) M531T probably benign Het
Gucy1b2 T A 14: 62,656,589 (GRCm39) K256M probably damaging Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Jkamp T C 12: 72,140,809 (GRCm39) I118T possibly damaging Het
Kalrn A T 16: 33,991,749 (GRCm39) probably null Het
Kcnma1 A T 14: 23,558,120 (GRCm39) D317E probably damaging Het
Lipo2 A T 19: 33,726,951 (GRCm39) probably null Het
Lrig3 T A 10: 125,846,061 (GRCm39) I830K probably damaging Het
Map3k4 A G 17: 12,454,015 (GRCm39) I1429T probably damaging Het
Mkks G A 2: 136,722,606 (GRCm39) L184F probably benign Het
Mmp19 C T 10: 128,634,872 (GRCm39) T424I possibly damaging Het
Mrps23 A G 11: 88,100,980 (GRCm39) E57G probably damaging Het
Myh7 T C 14: 55,216,333 (GRCm39) T1282A probably benign Het
Or2y10 A G 11: 49,455,675 (GRCm39) D309G probably benign Het
Or8k1 T A 2: 86,047,173 (GRCm39) S294C probably damaging Het
Phf19 T C 2: 34,801,214 (GRCm39) N75S probably damaging Het
Pink1 T G 4: 138,041,490 (GRCm39) H477P probably damaging Het
Ppp6r2 G A 15: 89,169,990 (GRCm39) C835Y probably damaging Het
Prkcq T C 2: 11,257,973 (GRCm39) I295T probably damaging Het
Ptpn13 T C 5: 103,664,274 (GRCm39) S421P probably benign Het
Ptpn6 A G 6: 124,705,914 (GRCm39) S77P probably damaging Het
Ptpre G T 7: 135,271,574 (GRCm39) M389I probably benign Het
Ranbp9 T C 13: 43,578,599 (GRCm39) D158G probably damaging Het
Sec14l3 C T 11: 4,025,547 (GRCm39) S357L probably benign Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Spef2 A T 15: 9,716,445 (GRCm39) D323E possibly damaging Het
Taf2 T A 15: 54,919,186 (GRCm39) K396N possibly damaging Het
Tcf12 A T 9: 71,824,309 (GRCm39) V94E probably damaging Het
Trim24 T A 6: 37,920,415 (GRCm39) I404N possibly damaging Het
Other mutations in Eaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Eaf1 APN 14 31,226,483 (GRCm39) splice site probably null
IGL01380:Eaf1 APN 14 31,219,767 (GRCm39) unclassified probably benign
IGL02151:Eaf1 APN 14 31,219,744 (GRCm39) missense probably damaging 1.00
IGL02512:Eaf1 APN 14 31,219,743 (GRCm39) missense possibly damaging 0.92
R3715:Eaf1 UTSW 14 31,224,402 (GRCm39) missense possibly damaging 0.94
R4639:Eaf1 UTSW 14 31,226,333 (GRCm39) missense probably benign 0.01
R7346:Eaf1 UTSW 14 31,216,777 (GRCm39) unclassified probably benign
R9244:Eaf1 UTSW 14 31,219,766 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGACCAGAAAACTGTGGGCTGC -3'
(R):5'- TCGAAGTTCCAGAGGCTAAGGGATG -3'

Sequencing Primer
(F):5'- AGTGCAGCGGCCTTACTTC -3'
(R):5'- TGAGAGGTAAGGAAAGCGAC -3'
Posted On 2013-04-16