Incidental Mutation 'R6084:Ebf4'
ID 482356
Institutional Source Beutler Lab
Gene Symbol Ebf4
Ensembl Gene ENSMUSG00000053552
Gene Name early B cell factor 4
Synonyms O/E-4, Olf-1/EBF-like 4
MMRRC Submission 044243-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.850) question?
Stock # R6084 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 130137089-130212401 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130151643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 277 (D277G)
Ref Sequence ENSEMBL: ENSMUSP00000105917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110286] [ENSMUST00000110287] [ENSMUST00000110288] [ENSMUST00000126740] [ENSMUST00000140169]
AlphaFold Q8K4J2
Predicted Effect probably benign
Transcript: ENSMUST00000110286
AA Change: D180G

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105915
Gene: ENSMUSG00000053552
AA Change: D180G

DomainStartEndE-ValueType
IPT 255 339 1.09e-5 SMART
HLH 340 389 7.22e-1 SMART
internal_repeat_1 391 406 1.45e-5 PROSPERO
low complexity region 407 426 N/A INTRINSIC
low complexity region 464 487 N/A INTRINSIC
low complexity region 512 534 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110287
AA Change: D180G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105916
Gene: ENSMUSG00000053552
AA Change: D180G

DomainStartEndE-ValueType
IPT 255 339 1.09e-5 SMART
HLH 340 389 7.22e-1 SMART
internal_repeat_1 391 406 1.25e-5 PROSPERO
low complexity region 407 426 N/A INTRINSIC
low complexity region 462 480 N/A INTRINSIC
low complexity region 482 504 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110288
AA Change: D277G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105917
Gene: ENSMUSG00000053552
AA Change: D277G

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
low complexity region 69 101 N/A INTRINSIC
Pfam:COE1_DBD 114 345 3.6e-148 PFAM
IPT 352 436 1.09e-5 SMART
HLH 437 486 7.22e-1 SMART
internal_repeat_1 488 503 3.82e-7 PROSPERO
low complexity region 504 523 N/A INTRINSIC
low complexity region 561 584 N/A INTRINSIC
low complexity region 609 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126740
AA Change: D180G

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133528
Gene: ENSMUSG00000053552
AA Change: D180G

DomainStartEndE-ValueType
IPT 255 339 1.09e-5 SMART
HLH 340 389 7.22e-1 SMART
internal_repeat_1 391 406 1.27e-5 PROSPERO
low complexity region 407 426 N/A INTRINSIC
low complexity region 464 487 N/A INTRINSIC
low complexity region 512 534 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134728
Predicted Effect probably benign
Transcript: ENSMUST00000140169
AA Change: D180G

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134520
Gene: ENSMUSG00000053552
AA Change: D180G

DomainStartEndE-ValueType
IPT 255 339 1.09e-5 SMART
HLH 340 389 7.22e-1 SMART
internal_repeat_1 391 406 3.44e-5 PROSPERO
low complexity region 407 426 N/A INTRINSIC
low complexity region 464 487 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,828,297 (GRCm39) D958G possibly damaging Het
Bag4 T C 8: 26,261,259 (GRCm39) T161A probably benign Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Cacna2d2 T C 9: 107,374,720 (GRCm39) probably null Het
Cass4 G T 2: 172,268,832 (GRCm39) A307S probably benign Het
Cbln4 A T 2: 171,884,016 (GRCm39) V68E probably damaging Het
Cc2d2a T A 5: 43,826,015 (GRCm39) N2K probably benign Het
Ccnf T A 17: 24,450,811 (GRCm39) D389V probably damaging Het
Cdipt T C 7: 126,578,773 (GRCm39) S161P probably benign Het
Ceacam19 T C 7: 19,616,812 (GRCm39) I161V probably benign Het
Cfap65 A G 1: 74,959,564 (GRCm39) I862T probably damaging Het
Cfi T A 3: 129,652,019 (GRCm39) L230Q probably benign Het
Chac2 G A 11: 30,936,159 (GRCm39) R30W probably damaging Het
Cmc2 G A 8: 117,616,566 (GRCm39) probably benign Het
Col1a2 A T 6: 4,505,840 (GRCm39) M1L probably benign Het
Cox8a C A 19: 7,194,783 (GRCm39) R32L possibly damaging Het
Cubn T A 2: 13,435,708 (GRCm39) N1083Y probably damaging Het
D630003M21Rik T C 2: 158,059,504 (GRCm39) D132G probably damaging Het
Dedd2 G A 7: 24,910,715 (GRCm39) P154S probably benign Het
Dnaaf3 T C 7: 4,527,212 (GRCm39) D358G probably benign Het
Dysf T A 6: 83,996,586 (GRCm39) F29L probably damaging Het
Dysf T C 6: 84,089,101 (GRCm39) L888P probably damaging Het
Ecm2 T A 13: 49,668,570 (GRCm39) L91* probably null Het
Foxs1 T C 2: 152,774,762 (GRCm39) D97G possibly damaging Het
Frs2 A C 10: 116,912,714 (GRCm39) probably null Het
Grp A T 18: 66,013,008 (GRCm39) D58V probably damaging Het
Hif1a T G 12: 73,988,616 (GRCm39) F537C probably damaging Het
Icam4 G A 9: 20,940,835 (GRCm39) S29N probably benign Het
Itfg1 T C 8: 86,452,799 (GRCm39) E523G probably benign Het
Jph2 T C 2: 163,217,600 (GRCm39) K359E probably damaging Het
Katnip G A 7: 125,414,037 (GRCm39) G394R probably benign Het
Kcnq2 A T 2: 180,729,449 (GRCm39) V490E possibly damaging Het
Klhl18 C T 9: 110,257,795 (GRCm39) M548I possibly damaging Het
Lpin3 A G 2: 160,737,721 (GRCm39) Y197C probably benign Het
Lrp1 T C 10: 127,396,422 (GRCm39) N2381D probably benign Het
Man1a A T 10: 53,795,307 (GRCm39) W649R probably damaging Het
Map4 T C 9: 109,893,360 (GRCm39) L542P probably damaging Het
Mboat2 A T 12: 24,928,284 (GRCm39) H52L probably damaging Het
Mok C G 12: 110,781,380 (GRCm39) S91T probably benign Het
Mtmr11 G T 3: 96,075,400 (GRCm39) R360L probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Ncoa4-ps A G 12: 119,225,386 (GRCm39) noncoding transcript Het
Or1j13 A G 2: 36,369,524 (GRCm39) V206A probably benign Het
Or4g7 A T 2: 111,309,734 (GRCm39) N202Y probably damaging Het
Or52z1 C T 7: 103,437,162 (GRCm39) M107I probably benign Het
Or55b4 T C 7: 102,133,596 (GRCm39) T244A probably damaging Het
Or7d11 A T 9: 19,966,179 (GRCm39) H75Q possibly damaging Het
Or7g21 A G 9: 19,032,623 (GRCm39) D121G probably damaging Het
Padi3 G T 4: 140,523,154 (GRCm39) T292N probably damaging Het
Pard6g A C 18: 80,160,420 (GRCm39) T178P possibly damaging Het
Pkd1l2 A T 8: 117,740,726 (GRCm39) Y2124N probably damaging Het
Plxdc1 G A 11: 97,819,289 (GRCm39) T398I probably damaging Het
Prickle2 A T 6: 92,393,829 (GRCm39) C225* probably null Het
Prmt2 G A 10: 76,046,278 (GRCm39) T317I probably benign Het
Psg22 T G 7: 18,453,705 (GRCm39) N172K probably benign Het
Ptpn9 C T 9: 56,940,447 (GRCm39) R196* probably null Het
Rap1b C T 10: 117,660,516 (GRCm39) V14I probably damaging Het
Rapgef4 T A 2: 72,026,622 (GRCm39) probably null Het
Rlf A T 4: 121,006,412 (GRCm39) M856K possibly damaging Het
Rnf149 A G 1: 39,616,255 (GRCm39) L34P probably benign Het
Rock1 T C 18: 10,101,007 (GRCm39) E636G probably benign Het
Rsad2 A T 12: 26,504,122 (GRCm39) Y136N probably damaging Het
Ryr3 T C 2: 112,738,838 (GRCm39) H563R probably damaging Het
Slc18b1 A G 10: 23,680,110 (GRCm39) M102V probably benign Het
Slc34a2 T A 5: 53,224,989 (GRCm39) C377S possibly damaging Het
Slco1c1 T C 6: 141,492,496 (GRCm39) V293A probably benign Het
Spidr A T 16: 15,957,888 (GRCm39) S80T possibly damaging Het
Syne1 C T 10: 5,298,994 (GRCm39) E1031K probably damaging Het
Synj2 G A 17: 6,067,889 (GRCm39) V121I probably damaging Het
Synj2 A T 17: 6,088,373 (GRCm39) T1430S probably damaging Het
Tecpr2 G T 12: 110,895,543 (GRCm39) K343N probably damaging Het
Tmem132d T A 5: 127,861,164 (GRCm39) I986F probably benign Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Ttll10 T A 4: 156,129,814 (GRCm39) D283V probably benign Het
Ttn T A 2: 76,645,123 (GRCm39) K673* probably null Het
Ubqlnl T A 7: 103,797,905 (GRCm39) M531L probably benign Het
Vmn2r120 A T 17: 57,832,721 (GRCm39) W153R probably benign Het
Vmn2r2 A C 3: 64,024,467 (GRCm39) S705A probably benign Het
Vmn2r32 T A 7: 7,467,209 (GRCm39) D773V probably benign Het
Vmn2r54 T A 7: 12,366,205 (GRCm39) Q243L probably damaging Het
Wdr24 C A 17: 26,043,504 (GRCm39) R109S probably damaging Het
Zfp113 T C 5: 138,143,930 (GRCm39) M107V probably benign Het
Zfp426 G T 9: 20,381,923 (GRCm39) Q341K possibly damaging Het
Zfp616 A T 11: 73,974,672 (GRCm39) K314* probably null Het
Other mutations in Ebf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02645:Ebf4 APN 2 130,203,761 (GRCm39) missense probably damaging 1.00
R0313:Ebf4 UTSW 2 130,148,707 (GRCm39) splice site probably benign
R1014:Ebf4 UTSW 2 130,207,388 (GRCm39) missense probably benign 0.05
R1542:Ebf4 UTSW 2 130,207,418 (GRCm39) missense probably benign 0.03
R1711:Ebf4 UTSW 2 130,200,751 (GRCm39) missense probably damaging 1.00
R2509:Ebf4 UTSW 2 130,148,482 (GRCm39) nonsense probably null
R3078:Ebf4 UTSW 2 130,148,419 (GRCm39) missense probably damaging 1.00
R4821:Ebf4 UTSW 2 130,148,965 (GRCm39) missense probably benign 0.37
R5974:Ebf4 UTSW 2 130,207,484 (GRCm39) missense probably damaging 0.99
R7102:Ebf4 UTSW 2 130,151,651 (GRCm39) missense probably benign 0.03
R9377:Ebf4 UTSW 2 130,148,775 (GRCm39) missense probably damaging 1.00
R9437:Ebf4 UTSW 2 130,202,005 (GRCm39) missense probably benign 0.06
X0028:Ebf4 UTSW 2 130,203,908 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CCTGAGTCTTCACTGGAGTG -3'
(R):5'- ATCTCCAGGAAGCTTGTCAC -3'
Posted On 2017-07-14