Incidental Mutation 'R4393:Ebf3'
ID 326473
Institutional Source Beutler Lab
Gene Symbol Ebf3
Ensembl Gene ENSMUSG00000010476
Gene Name early B cell factor 3
Synonyms 3110018A08Rik, Olf-1/EBF-like 2, O/E-2
MMRRC Submission 041128-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4393 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 136795402-136916174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136826886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 342 (R342H)
Ref Sequence ENSEMBL: ENSMUSP00000147829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033378] [ENSMUST00000106118] [ENSMUST00000168203] [ENSMUST00000169486] [ENSMUST00000209578] [ENSMUST00000210774]
AlphaFold O08791
Predicted Effect possibly damaging
Transcript: ENSMUST00000033378
AA Change: R333H

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033378
Gene: ENSMUSG00000010476
AA Change: R333H

DomainStartEndE-ValueType
low complexity region 94 106 N/A INTRINSIC
IPT 253 337 2.09e-7 SMART
HLH 338 387 1.43e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106118
AA Change: R333H

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101724
Gene: ENSMUSG00000010476
AA Change: R333H

DomainStartEndE-ValueType
Pfam:COE1_DBD 17 247 2.6e-151 PFAM
IPT 262 346 2.09e-7 SMART
HLH 347 396 1.43e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168203
AA Change: R333H

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130334
Gene: ENSMUSG00000010476
AA Change: R333H

DomainStartEndE-ValueType
low complexity region 94 106 N/A INTRINSIC
IPT 253 337 2.09e-7 SMART
HLH 338 387 1.43e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169486
AA Change: R333H

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132563
Gene: ENSMUSG00000010476
AA Change: R333H

DomainStartEndE-ValueType
low complexity region 94 106 N/A INTRINSIC
IPT 253 337 2.09e-7 SMART
HLH 338 387 1.43e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209578
AA Change: R126H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209905
Predicted Effect probably damaging
Transcript: ENSMUST00000210774
AA Change: R342H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.7494 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 95% (71/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutant mice die perinatally and exhibit impaired olfactory neuron projection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik C A 9: 3,134,944 (GRCm39) noncoding transcript Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Adgrl1 T C 8: 84,665,222 (GRCm39) V1353A probably benign Het
Cep68 A T 11: 20,188,544 (GRCm39) N620K probably benign Het
Clcnkb A G 4: 141,139,547 (GRCm39) S152P probably benign Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Cyp26c1 G A 19: 37,675,105 (GRCm39) R142H probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg5 T A 14: 24,228,057 (GRCm39) probably null Het
Dnai7 T C 6: 145,140,304 (GRCm39) T166A possibly damaging Het
Ece2 T C 16: 20,451,598 (GRCm39) V380A probably damaging Het
Epb41l4a C T 18: 34,024,473 (GRCm39) probably null Het
Erbb3 G T 10: 128,408,639 (GRCm39) Q815K probably damaging Het
Ercc3 T A 18: 32,398,674 (GRCm39) M651K probably benign Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Foxp2 A C 6: 15,377,689 (GRCm39) probably benign Het
Gdf10 T C 14: 33,654,695 (GRCm39) Y401H probably damaging Het
Gm21738 G C 14: 19,417,178 (GRCm38) L117V probably benign Het
Gm6408 A T 5: 146,419,147 (GRCm39) D54V probably damaging Het
H2-T5 C A 17: 36,472,861 (GRCm39) probably benign Het
Hcn4 A G 9: 58,751,583 (GRCm39) E403G unknown Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Il11ra1 T C 4: 41,768,577 (GRCm39) probably null Het
Immt T A 6: 71,849,784 (GRCm39) S435T probably benign Het
Kcnip2 A G 19: 45,800,669 (GRCm39) L19P probably benign Het
Kctd2 T C 11: 115,320,326 (GRCm39) probably benign Het
Mdga1 T C 17: 30,069,491 (GRCm39) D185G probably damaging Het
Mdn1 C T 4: 32,754,482 (GRCm39) T4666M possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Msl2 A G 9: 100,978,676 (GRCm39) E350G probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo3a A T 2: 22,467,866 (GRCm39) K373N probably damaging Het
Nr5a1 T C 2: 38,584,231 (GRCm39) E396G probably damaging Het
Ogdh G A 11: 6,266,772 (GRCm39) G141D probably damaging Het
Or10q1b T C 19: 13,682,554 (GRCm39) I121T possibly damaging Het
Or2h2c T C 17: 37,424,971 (GRCm39) probably benign Het
Or5w1b A T 2: 87,476,256 (GRCm39) C70* probably null Het
Orc2 C A 1: 58,506,809 (GRCm39) probably null Het
P4ha3 C T 7: 99,954,814 (GRCm39) P291S probably benign Het
Pign T C 1: 105,449,751 (GRCm39) K925R probably benign Het
Plekhm1 A G 11: 103,267,791 (GRCm39) S727P possibly damaging Het
Prr36 G T 8: 4,264,901 (GRCm39) probably benign Het
Prrt3 A G 6: 113,471,907 (GRCm39) L755P probably benign Het
Secisbp2 A G 13: 51,808,502 (GRCm39) H89R probably damaging Het
Sgms2 A T 3: 131,135,466 (GRCm39) probably null Het
Slc35d3 T C 10: 19,725,352 (GRCm39) probably null Het
Slu7 T A 11: 43,330,096 (GRCm39) N174K possibly damaging Het
Teddm1a G T 1: 153,768,192 (GRCm39) D219Y probably damaging Het
Tgtp1 C A 11: 48,878,450 (GRCm39) G85V probably damaging Het
Tmem51 T C 4: 141,759,242 (GRCm39) T169A probably benign Het
Tmem69 C T 4: 116,411,964 (GRCm39) probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Vwa3b T C 1: 37,084,259 (GRCm39) V144A probably damaging Het
Zdhhc21 A G 4: 82,765,891 (GRCm39) C15R possibly damaging Het
Zfp142 T C 1: 74,611,219 (GRCm39) T756A probably benign Het
Zfp606 C T 7: 12,226,776 (GRCm39) S241F probably damaging Het
Zfp804a A T 2: 82,087,265 (GRCm39) T365S probably benign Het
Other mutations in Ebf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Ebf3 APN 7 136,827,625 (GRCm39) splice site probably benign
IGL01938:Ebf3 APN 7 136,911,047 (GRCm39) missense probably damaging 1.00
IGL02076:Ebf3 APN 7 136,833,030 (GRCm39) missense possibly damaging 0.61
IGL02260:Ebf3 APN 7 136,807,919 (GRCm39) missense probably damaging 1.00
IGL02303:Ebf3 APN 7 136,911,094 (GRCm39) missense probably benign 0.01
IGL02828:Ebf3 APN 7 136,909,247 (GRCm39) missense probably damaging 0.98
IGL03211:Ebf3 APN 7 136,833,033 (GRCm39) missense probably benign 0.21
R0885:Ebf3 UTSW 7 136,827,613 (GRCm39) missense probably benign 0.10
R0962:Ebf3 UTSW 7 136,826,932 (GRCm39) missense probably damaging 0.99
R1166:Ebf3 UTSW 7 136,914,896 (GRCm39) splice site probably benign
R1255:Ebf3 UTSW 7 136,826,941 (GRCm39) missense probably benign 0.35
R1804:Ebf3 UTSW 7 136,802,250 (GRCm39) missense possibly damaging 0.89
R4298:Ebf3 UTSW 7 136,826,958 (GRCm39) missense possibly damaging 0.95
R5061:Ebf3 UTSW 7 136,915,288 (GRCm39) missense possibly damaging 0.57
R5880:Ebf3 UTSW 7 136,800,367 (GRCm39) missense probably benign 0.04
R6024:Ebf3 UTSW 7 136,802,264 (GRCm39) missense probably damaging 1.00
R6109:Ebf3 UTSW 7 136,807,955 (GRCm39) missense probably damaging 1.00
R6634:Ebf3 UTSW 7 136,802,889 (GRCm39) missense probably damaging 0.99
R6958:Ebf3 UTSW 7 136,800,994 (GRCm39) missense possibly damaging 0.66
R6997:Ebf3 UTSW 7 136,826,994 (GRCm39) missense probably damaging 0.97
R7578:Ebf3 UTSW 7 136,915,261 (GRCm39) missense probably damaging 1.00
R7771:Ebf3 UTSW 7 136,911,092 (GRCm39) missense probably damaging 1.00
R8133:Ebf3 UTSW 7 136,914,872 (GRCm39) missense probably damaging 1.00
R8185:Ebf3 UTSW 7 136,827,607 (GRCm39) missense possibly damaging 0.87
R8356:Ebf3 UTSW 7 136,800,916 (GRCm39) missense probably benign 0.41
R8456:Ebf3 UTSW 7 136,800,916 (GRCm39) missense probably benign 0.41
R8520:Ebf3 UTSW 7 136,802,853 (GRCm39) critical splice donor site probably null
R9025:Ebf3 UTSW 7 136,914,098 (GRCm39) missense possibly damaging 0.94
R9086:Ebf3 UTSW 7 136,800,994 (GRCm39) missense possibly damaging 0.66
R9679:Ebf3 UTSW 7 136,832,964 (GRCm39) missense possibly damaging 0.67
RF022:Ebf3 UTSW 7 136,915,671 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- ACTACCGTGTCTGTCCAGTC -3'
(R):5'- TTATATCCAACTGGCAAGTGTCCG -3'

Sequencing Primer
(F):5'- GTCCAGTCATCATGAGCTGTCTAAG -3'
(R):5'- AAGTGTCCGCCTCTCAGG -3'
Posted On 2015-07-06