Incidental Mutation 'IGL02151:Eaf1'
ID282006
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eaf1
Ensembl Gene ENSMUSG00000021890
Gene NameELL associated factor 1
Synonyms4933403C17Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.621) question?
Stock #IGL02151
Quality Score
Status
Chromosome14
Chromosomal Location31494399-31509858 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 31497787 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 61 (T61M)
Ref Sequence ENSEMBL: ENSMUSP00000022446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022446] [ENSMUST00000055303] [ENSMUST00000227595] [ENSMUST00000227777] [ENSMUST00000228181] [ENSMUST00000228727] [ENSMUST00000228943]
Predicted Effect probably damaging
Transcript: ENSMUST00000022446
AA Change: T61M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022446
Gene: ENSMUSG00000021890
AA Change: T61M

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 noncoding transcript
Transcript: ENSMUST00000226564
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik C T 5: 98,329,442 T24M probably damaging Het
Adgra3 G T 5: 49,979,142 T667N probably benign Het
Aff4 T C 11: 53,399,806 I531T probably benign Het
Akap9 C T 5: 4,032,728 Q1951* probably null Het
Arhgef10 C T 8: 14,928,889 T52M possibly damaging Het
Atg2a A G 19: 6,255,757 E1132G possibly damaging Het
AW551984 A C 9: 39,592,945 I575S probably benign Het
Cog7 T C 7: 121,943,808 E460G probably damaging Het
Ctse A G 1: 131,672,535 I341V probably benign Het
Dcpp1 A T 17: 23,882,594 I106L possibly damaging Het
Dcxr T A 11: 120,725,983 M158L probably benign Het
Dnah11 A T 12: 118,059,888 probably benign Het
Dnah7a T A 1: 53,472,864 I3013F probably benign Het
Dnah8 A G 17: 30,648,417 D281G possibly damaging Het
Dpysl3 G A 18: 43,358,300 H136Y probably damaging Het
Fmnl1 A G 11: 103,192,772 T441A probably benign Het
Gm6169 T A 13: 97,099,174 T22S probably null Het
Hmgcll1 C T 9: 76,081,438 P197L probably benign Het
Kdm4b T C 17: 56,396,234 V643A probably benign Het
Lrch2 A G X: 147,553,720 F111L possibly damaging Het
Macf1 A T 4: 123,371,766 probably benign Het
Mfsd4b2 T C 10: 39,921,691 N223D probably damaging Het
Mug1 G A 6: 121,884,690 probably null Het
Nek7 A T 1: 138,487,100 L270Q probably damaging Het
Nexn T A 3: 152,248,244 D127V probably damaging Het
Nxf3 A G X: 136,079,573 F130S probably damaging Het
Olfr655 A G 7: 104,596,534 S216P probably damaging Het
Olfr96 T A 17: 37,225,166 F14I probably damaging Het
Pcdhb16 G A 18: 37,478,358 V124I possibly damaging Het
Podxl T C 6: 31,524,459 D387G possibly damaging Het
Rab3d C A 9: 21,915,724 R70M probably damaging Het
Ripk2 A T 4: 16,139,240 M219K possibly damaging Het
Rnf146 A G 10: 29,347,353 V179A probably damaging Het
Robo1 G T 16: 72,989,616 V839L probably benign Het
Rttn T A 18: 89,020,205 N808K probably damaging Het
Slc12a3 T G 8: 94,348,592 V738G probably benign Het
Slc26a3 T C 12: 31,447,831 V78A probably damaging Het
Slc26a9 G A 1: 131,764,043 V675M probably damaging Het
Sncb T A 13: 54,762,696 I76F probably benign Het
Stat4 G A 1: 52,013,870 R70H probably damaging Het
Tle6 T C 10: 81,598,640 M42V probably benign Het
Tmem67 T C 4: 12,068,882 T439A probably benign Het
Ugt2b35 C A 5: 87,003,282 T249K possibly damaging Het
Vmn1r231 C T 17: 20,889,735 R306K probably benign Het
Vmn1r42 A T 6: 89,845,041 I182N possibly damaging Het
Zfhx3 T C 8: 108,793,883 S546P probably damaging Het
Zic3 G T X: 58,031,539 probably null Het
Other mutations in Eaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Eaf1 APN 14 31504526 splice site probably null
IGL01380:Eaf1 APN 14 31497810 unclassified probably benign
IGL02512:Eaf1 APN 14 31497786 missense possibly damaging 0.92
R0183:Eaf1 UTSW 14 31495315 missense probably damaging 1.00
R3715:Eaf1 UTSW 14 31502445 missense possibly damaging 0.94
R4639:Eaf1 UTSW 14 31504376 missense probably benign 0.01
Posted On2015-04-16