Incidental Mutation 'R4667:Elf5'
ID 352001
Institutional Source Beutler Lab
Gene Symbol Elf5
Ensembl Gene ENSMUSG00000027186
Gene Name E74-like factor 5
Synonyms ESE-2
MMRRC Submission 042012-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4667 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 103411688-103450989 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103449060 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 209 (N209D)
Ref Sequence ENSEMBL: ENSMUSP00000131940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028609] [ENSMUST00000028610] [ENSMUST00000126290] [ENSMUST00000164172] [ENSMUST00000171693]
AlphaFold Q8VDK3
Predicted Effect probably damaging
Transcript: ENSMUST00000028609
AA Change: N209D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028609
Gene: ENSMUSG00000027186
AA Change: N209D

SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028610
SMART Domains Protein: ENSMUSP00000028610
Gene: ENSMUSG00000027187

Catalase 28 413 4.7e-285 SMART
Pfam:Catalase-rel 434 497 5.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123793
Predicted Effect probably benign
Transcript: ENSMUST00000126290
SMART Domains Protein: ENSMUSP00000118565
Gene: ENSMUSG00000027186

SAM_PNT 35 119 3.89e-39 SMART
ETS 160 199 4.45e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152055
Predicted Effect probably damaging
Transcript: ENSMUST00000164172
AA Change: N209D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126941
Gene: ENSMUSG00000027186
AA Change: N209D

SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171693
AA Change: N209D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131940
Gene: ENSMUSG00000027186
AA Change: N209D

SAM_PNT 35 119 3.89e-39 SMART
ETS 160 246 4.96e-49 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930539E08Rik G T 17: 28,908,313 (GRCm38) Q241K possibly damaging Het
Acad8 A G 9: 26,990,627 (GRCm38) L147P probably damaging Het
Adgra3 T A 5: 49,978,956 (GRCm38) Y729F possibly damaging Het
Ago2 A G 15: 73,146,416 (GRCm38) Y58H probably damaging Het
Akap13 A G 7: 75,729,094 (GRCm38) T2128A probably damaging Het
Akap2 A T 4: 57,855,655 (GRCm38) D328V possibly damaging Het
Ankhd1 C A 18: 36,648,021 (GRCm38) P2042Q possibly damaging Het
Arhgef15 T C 11: 68,954,561 (GRCm38) K155R probably benign Het
Atp10b T C 11: 43,247,518 (GRCm38) F1209L probably damaging Het
B130006D01Rik A T 11: 95,726,509 (GRCm38) probably benign Het
Bmpr2 T C 1: 59,867,716 (GRCm38) L656S probably damaging Het
Btbd17 A G 11: 114,793,857 (GRCm38) F119L possibly damaging Het
Ccdc191 G T 16: 43,931,283 (GRCm38) K267N probably damaging Het
Ceacam20 T C 7: 19,986,027 (GRCm38) Y495H probably damaging Het
Celf2 T C 2: 6,721,528 (GRCm38) I47V probably benign Het
Chd9 T C 8: 91,033,800 (GRCm38) S2058P possibly damaging Het
Clcn6 T C 4: 148,024,167 (GRCm38) E135G possibly damaging Het
Cntn1 T A 15: 92,295,079 (GRCm38) N687K probably damaging Het
Col1a2 A T 6: 4,512,412 (GRCm38) M99L unknown Het
Cpeb2 T C 5: 43,233,892 (GRCm38) probably benign Het
Csn1s2b A G 5: 87,822,311 (GRCm38) T134A possibly damaging Het
Cst13 A T 2: 148,823,081 (GRCm38) probably benign Het
Cyp2c66 T A 19: 39,176,656 (GRCm38) D360E probably damaging Het
Dhx8 A G 11: 101,738,161 (GRCm38) S179G unknown Het
Dip2b A G 15: 100,151,360 (GRCm38) I212V probably benign Het
Dnah9 G A 11: 66,155,531 (GRCm38) H64Y probably benign Het
Dnal1 T C 12: 84,136,700 (GRCm38) probably benign Het
Dse T G 10: 34,153,012 (GRCm38) Y694S probably damaging Het
Dync2h1 T C 9: 7,051,411 (GRCm38) I3175V probably benign Het
Elovl1 A G 4: 118,430,787 (GRCm38) Y40C probably damaging Het
Erp27 T C 6: 136,908,152 (GRCm38) E216G possibly damaging Het
F5 G A 1: 164,174,186 (GRCm38) V153I probably benign Het
Fam186a G A 15: 99,944,532 (GRCm38) T1277I possibly damaging Het
Fam90a1a A T 8: 21,963,346 (GRCm38) H239L possibly damaging Het
Fchsd2 G T 7: 101,250,449 (GRCm38) R334L probably damaging Het
Fermt3 T C 19: 7,002,920 (GRCm38) Y369C probably damaging Het
Fhod3 C T 18: 25,066,338 (GRCm38) P689S probably benign Het
Fnbp1l G T 3: 122,556,567 (GRCm38) Q332K probably benign Het
Frem3 T C 8: 80,663,420 (GRCm38) S1767P probably damaging Het
Ggt5 T C 10: 75,603,031 (GRCm38) L121P probably damaging Het
Gm609 A G 16: 45,444,163 (GRCm38) S11P probably benign Het
Gphn T C 12: 78,454,817 (GRCm38) S119P probably damaging Het
Herc2 A G 7: 56,131,253 (GRCm38) D1222G probably damaging Het
Hmx3 T C 7: 131,544,382 (GRCm38) I273T possibly damaging Het
Hnrnpu A G 1: 178,332,181 (GRCm38) probably benign Het
Hspg2 C T 4: 137,539,645 (GRCm38) T1987I possibly damaging Het
Ighv1-22 T A 12: 114,746,451 (GRCm38) Q58L probably damaging Het
Ighv14-3 T A 12: 114,060,255 (GRCm38) I7F probably benign Het
Kcns3 C A 12: 11,091,783 (GRCm38) R305L probably damaging Het
Kcnu1 C T 8: 25,910,921 (GRCm38) A699V possibly damaging Het
Kif22 A C 7: 127,033,328 (GRCm38) L270W probably damaging Het
Lrp2 G T 2: 69,489,298 (GRCm38) H1960Q probably benign Het
March7 C T 2: 60,241,050 (GRCm38) Q94* probably null Het
Mcoln3 A T 3: 146,131,204 (GRCm38) I264F probably benign Het
Mdn1 A C 4: 32,679,572 (GRCm38) T706P probably damaging Het
Mfsd2b A G 12: 4,867,636 (GRCm38) C137R probably benign Het
Mmp25 A G 17: 23,644,607 (GRCm38) V83A probably benign Het
Mocos T C 18: 24,666,434 (GRCm38) Y242H probably benign Het
Msh6 T C 17: 87,984,806 (GRCm38) S330P possibly damaging Het
Mtus2 T C 5: 148,298,260 (GRCm38) S1156P possibly damaging Het
Muc5b G A 7: 141,842,379 (GRCm38) R124H unknown Het
Mybbp1a G A 11: 72,447,971 (GRCm38) E775K possibly damaging Het
Myo10 A G 15: 25,793,153 (GRCm38) E1272G possibly damaging Het
Nars A G 18: 64,505,231 (GRCm38) S254P possibly damaging Het
Ncapd2 A G 6: 125,184,518 (GRCm38) I211T possibly damaging Het
Ncoa7 A T 10: 30,690,790 (GRCm38) W582R probably damaging Het
Npr3 T A 15: 11,905,467 (GRCm38) D58V possibly damaging Het
Nr3c1 G T 18: 39,428,727 (GRCm38) T430K probably benign Het
Odf2l A G 3: 145,128,040 (GRCm38) T111A probably benign Het
Ogdh G T 11: 6,340,600 (GRCm38) C406F probably benign Het
Olfml2a T G 2: 38,949,010 (GRCm38) S190A probably damaging Het
Olfr148 T C 9: 39,613,738 (GRCm38) M57T probably damaging Het
Olfr243 A G 7: 103,716,638 (GRCm38) T15A probably benign Het
Olfr870 T C 9: 20,171,098 (GRCm38) I158V probably benign Het
Olfr965 G T 9: 39,719,709 (GRCm38) V161F probably benign Het
Optn T C 2: 5,033,139 (GRCm38) K415E probably benign Het
Perm1 C A 4: 156,220,206 (GRCm38) S803* probably null Het
Pex14 T C 4: 148,984,085 (GRCm38) T84A probably benign Het
Pih1d2 T A 9: 50,620,952 (GRCm38) Y103* probably null Het
Pikfyve T A 1: 65,250,273 (GRCm38) C1235S probably damaging Het
Polr1a A G 6: 71,917,821 (GRCm38) N171S probably benign Het
Prrx1 A G 1: 163,254,047 (GRCm38) S201P probably benign Het
Psme2b A T 11: 48,945,666 (GRCm38) N151K probably benign Het
Serpinb5 A T 1: 106,872,295 (GRCm38) T72S probably benign Het
Sgsm1 A G 5: 113,260,047 (GRCm38) probably null Het
Sipa1l2 T C 8: 125,453,470 (GRCm38) R1063G possibly damaging Het
Slc19a3 T C 1: 83,022,799 (GRCm38) T166A probably benign Het
Slc5a4b T C 10: 76,075,045 (GRCm38) Y319C possibly damaging Het
Stard3nl T A 13: 19,376,519 (GRCm38) N29Y probably damaging Het
Sult6b2 G T 6: 142,801,695 (GRCm38) C109* probably null Het
Tcf25 A G 8: 123,397,025 (GRCm38) E467G possibly damaging Het
Tmem177 A T 1: 119,910,220 (GRCm38) V243D probably benign Het
Tmem2 C T 19: 21,844,781 (GRCm38) A1180V probably benign Het
Tmem2 G A 19: 21,797,351 (GRCm38) R119H probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tspan11 T A 6: 127,943,715 (GRCm38) C208* probably null Het
Ttc1 A G 11: 43,745,317 (GRCm38) V33A probably benign Het
Uck1 T A 2: 32,256,034 (GRCm38) H283L probably damaging Het
Utrn A C 10: 12,698,053 (GRCm38) V1091G probably benign Het
Vmn1r11 A T 6: 57,137,498 (GRCm38) H49L probably damaging Het
Vmn1r160 G T 7: 22,872,053 (GRCm38) S277I probably benign Het
Vmn1r18 A T 6: 57,390,084 (GRCm38) S162T probably benign Het
Vps37b A G 5: 124,010,732 (GRCm38) L80P probably damaging Het
Wfdc3 T C 2: 164,743,086 (GRCm38) M1V probably null Het
Wrn A T 8: 33,324,338 (GRCm38) N116K probably benign Het
Wscd2 G T 5: 113,577,272 (GRCm38) G391V probably damaging Het
Zcchc11 G A 4: 108,495,159 (GRCm38) E357K probably damaging Het
Zfp286 A G 11: 62,780,602 (GRCm38) V215A probably benign Het
Zfp568 A G 7: 30,023,277 (GRCm38) H549R probably damaging Het
Other mutations in Elf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Elf5 APN 2 103,442,861 (GRCm38) splice site probably benign
IGL03162:Elf5 APN 2 103,430,406 (GRCm38) missense possibly damaging 0.56
R0329:Elf5 UTSW 2 103,430,420 (GRCm38) splice site probably benign
R4906:Elf5 UTSW 2 103,449,573 (GRCm38) nonsense probably null
R5768:Elf5 UTSW 2 103,449,022 (GRCm38) missense probably damaging 1.00
R6307:Elf5 UTSW 2 103,439,412 (GRCm38) missense probably damaging 1.00
R6418:Elf5 UTSW 2 103,439,352 (GRCm38) missense possibly damaging 0.92
R6526:Elf5 UTSW 2 103,439,233 (GRCm38) missense probably damaging 1.00
R6708:Elf5 UTSW 2 103,448,989 (GRCm38) missense probably damaging 0.97
R7199:Elf5 UTSW 2 103,439,296 (GRCm38) missense possibly damaging 0.70
R7263:Elf5 UTSW 2 103,439,300 (GRCm38) missense probably benign 0.25
R7646:Elf5 UTSW 2 103,439,243 (GRCm38) missense probably benign 0.39
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-10-08