Incidental Mutation 'R6526:Elf5'
ID 521799
Institutional Source Beutler Lab
Gene Symbol Elf5
Ensembl Gene ENSMUSG00000027186
Gene Name E74-like factor 5
Synonyms ESE-2
MMRRC Submission 044652-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6526 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 103242443-103281334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103269578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 53 (Y53C)
Ref Sequence ENSEMBL: ENSMUSP00000118565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028609] [ENSMUST00000126290] [ENSMUST00000164172] [ENSMUST00000171693]
AlphaFold Q8VDK3
Predicted Effect probably damaging
Transcript: ENSMUST00000028609
AA Change: Y53C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028609
Gene: ENSMUSG00000027186
AA Change: Y53C

DomainStartEndE-ValueType
SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126290
AA Change: Y53C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118565
Gene: ENSMUSG00000027186
AA Change: Y53C

DomainStartEndE-ValueType
SAM_PNT 35 119 3.89e-39 SMART
ETS 160 199 4.45e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137973
Predicted Effect probably damaging
Transcript: ENSMUST00000164172
AA Change: Y53C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126941
Gene: ENSMUSG00000027186
AA Change: Y53C

DomainStartEndE-ValueType
SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171693
AA Change: Y53C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131940
Gene: ENSMUSG00000027186
AA Change: Y53C

DomainStartEndE-ValueType
SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Meta Mutation Damage Score 0.2913 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.5%
Validation Efficiency 100% (72/72)
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic lethality. Embryos homozygous for one null allele failed to develop extraembryonic ectoderm, did not maintain trophoblast stem cells, and had abnormal or absent mesoderm. Mice heterozygous for another allele had impaired lactation and mammary gland development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,331 (GRCm39) probably null Het
Abcc3 C T 11: 94,250,198 (GRCm39) G975D probably benign Het
Abhd13 G A 8: 10,037,777 (GRCm39) G125S probably damaging Het
Ache T A 5: 137,288,906 (GRCm39) L204Q probably damaging Het
Acnat2 A G 4: 49,383,497 (GRCm39) S19P probably benign Het
Adprh A G 16: 38,267,638 (GRCm39) Y216H probably benign Het
Anapc1 T A 2: 128,514,055 (GRCm39) K429* probably null Het
Anxa13 T C 15: 58,208,353 (GRCm39) noncoding transcript Het
Aprt A C 8: 123,303,555 (GRCm39) L6W probably damaging Het
Arhgef15 T C 11: 68,840,820 (GRCm39) T569A probably damaging Het
Atp11a T C 8: 12,914,999 (GRCm39) L1139P probably benign Het
Atp2b4 A G 1: 133,639,467 (GRCm39) S1136P probably damaging Het
B9d1 T A 11: 61,399,923 (GRCm39) Y90* probably null Het
Btla G A 16: 45,059,457 (GRCm39) A54T probably damaging Het
Cd63 T C 10: 128,747,358 (GRCm39) V35A probably benign Het
Chek2 T C 5: 110,996,556 (GRCm39) F173L probably damaging Het
Cntnap3 T A 13: 64,929,702 (GRCm39) N499I possibly damaging Het
Cog4 T C 8: 111,608,418 (GRCm39) L738P probably damaging Het
Cops6 T C 5: 138,162,162 (GRCm39) probably null Het
Cpeb1 T A 7: 81,011,417 (GRCm39) I175F probably benign Het
Cyp3a16 C T 5: 145,392,705 (GRCm39) D174N probably benign Het
Dnah6 T G 6: 73,051,687 (GRCm39) I2984L probably benign Het
Dock10 A T 1: 80,564,068 (GRCm39) I540N probably damaging Het
Elmod2 T C 8: 84,046,086 (GRCm39) T164A probably damaging Het
Elp1 T C 4: 56,798,812 (GRCm39) probably null Het
Epn3 A G 11: 94,385,758 (GRCm39) probably null Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Gm11115 T A 5: 88,301,909 (GRCm39) probably null Het
Golga3 T A 5: 110,352,761 (GRCm39) I884N probably damaging Het
Gria2 A T 3: 80,599,776 (GRCm39) F703I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtpbp2 A T 17: 46,475,037 (GRCm39) probably null Het
Herc2 T C 7: 55,807,078 (GRCm39) S2419P probably damaging Het
Inpp5d T C 1: 87,603,972 (GRCm39) probably benign Het
Kdm2b C A 5: 123,099,532 (GRCm39) V136F probably damaging Het
Klra2 T A 6: 131,198,839 (GRCm39) D234V probably benign Het
Lct A T 1: 128,228,215 (GRCm39) S1093T probably benign Het
Marchf9 A G 10: 126,892,558 (GRCm39) L310P probably benign Het
Morc1 G T 16: 48,407,487 (GRCm39) E668* probably null Het
Nbas A T 12: 13,455,426 (GRCm39) L1213F probably damaging Het
Neto1 A G 18: 86,516,873 (GRCm39) T397A possibly damaging Het
Oit3 A G 10: 59,265,462 (GRCm39) C268R probably damaging Het
Or5p55 A G 7: 107,566,669 (GRCm39) T22A probably benign Het
Pcx T C 19: 4,654,523 (GRCm39) F312L probably benign Het
Pitx2 T C 3: 129,008,432 (GRCm39) probably null Het
Pkhd1l1 G A 15: 44,361,485 (GRCm39) probably null Het
Polr1a C A 6: 71,906,427 (GRCm39) D414E possibly damaging Het
Pramel27 A G 4: 143,579,384 (GRCm39) D323G probably damaging Het
Prkch T C 12: 73,749,549 (GRCm39) Y381H probably damaging Het
Ptger3 T A 3: 157,273,139 (GRCm39) V162E probably damaging Het
Ptgr2 T G 12: 84,360,726 (GRCm39) M332R probably damaging Het
Ptprq G T 10: 107,378,514 (GRCm39) S2009* probably null Het
Pwwp3a A G 10: 80,068,113 (GRCm39) T86A probably benign Het
Rangrf C T 11: 68,864,514 (GRCm39) G11R probably damaging Het
Rbl2 A T 8: 91,823,467 (GRCm39) Q465L probably benign Het
Rhbdd1 A T 1: 82,318,380 (GRCm39) M88L probably benign Het
Setd2 G A 9: 110,361,785 (GRCm39) M13I probably benign Het
Sirpb1a T C 3: 15,444,080 (GRCm39) Y384C probably damaging Het
Slc13a1 C T 6: 24,097,611 (GRCm39) G439S probably damaging Het
Slc41a1 T A 1: 131,768,887 (GRCm39) I239N probably damaging Het
Slit2 T A 5: 48,461,509 (GRCm39) C1502S probably damaging Het
Slit3 G A 11: 35,552,119 (GRCm39) E888K probably benign Het
Srrm3 G T 5: 135,864,088 (GRCm39) R62L probably damaging Het
Synm A G 7: 67,385,331 (GRCm39) V777A possibly damaging Het
Trmt13 T A 3: 116,385,864 (GRCm39) N31I probably damaging Het
Trpm8 G A 1: 88,289,720 (GRCm39) E893K probably damaging Het
Uqcc1 A G 2: 155,693,343 (GRCm39) F197S probably damaging Het
Vmn1r67 T A 7: 10,181,598 (GRCm39) N287K probably benign Het
Vmn2r44 A T 7: 8,381,098 (GRCm39) M265K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xdh C A 17: 74,207,546 (GRCm39) C937F probably damaging Het
Zfp846 T A 9: 20,505,167 (GRCm39) N342K probably benign Het
Other mutations in Elf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Elf5 APN 2 103,273,206 (GRCm39) splice site probably benign
IGL03162:Elf5 APN 2 103,260,751 (GRCm39) missense possibly damaging 0.56
R0329:Elf5 UTSW 2 103,260,765 (GRCm39) splice site probably benign
R4667:Elf5 UTSW 2 103,279,405 (GRCm39) missense probably damaging 1.00
R4906:Elf5 UTSW 2 103,279,918 (GRCm39) nonsense probably null
R5768:Elf5 UTSW 2 103,279,367 (GRCm39) missense probably damaging 1.00
R6307:Elf5 UTSW 2 103,269,757 (GRCm39) missense probably damaging 1.00
R6418:Elf5 UTSW 2 103,269,697 (GRCm39) missense possibly damaging 0.92
R6708:Elf5 UTSW 2 103,279,334 (GRCm39) missense probably damaging 0.97
R7199:Elf5 UTSW 2 103,269,641 (GRCm39) missense possibly damaging 0.70
R7263:Elf5 UTSW 2 103,269,645 (GRCm39) missense probably benign 0.25
R7646:Elf5 UTSW 2 103,269,588 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- TGGTCCCAACAGCCATCTAC -3'
(R):5'- TGAAGTACAGGTACTCCCCAC -3'

Sequencing Primer
(F):5'- CTCTGTAGAGAAGATAACCTGGATCC -3'
(R):5'- GTACAGGTACTCCCCACAGATG -3'
Posted On 2018-06-06