Incidental Mutation 'R1804:Ebf3'
ID 203385
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 039834-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1804 (G1)
Quality Score 215
Status Validated
Chromosome 7
Chromosomal Location 136795402-136916174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 136802250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 412 (L412V)
Ref Sequence ENSEMBL: ENSMUSP00000147829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033378] [ENSMUST00000106118] [ENSMUST00000168203] [ENSMUST00000169486] [ENSMUST00000209578] [ENSMUST00000210774]
AlphaFold O08791
Predicted Effect probably benign
Transcript: ENSMUST00000033378
AA Change: L403V

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000033378
Gene: ENSMUSG00000010476
AA Change: L403V

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: L403V

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101724
Gene: ENSMUSG00000010476
AA Change: L403V

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: L403V

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130334
Gene: ENSMUSG00000010476
AA Change: L403V

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: L403V

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132563
Gene: ENSMUSG00000010476
AA Change: L403V

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: ENSMUST00000209578
AA Change: L196V

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209650
Predicted Effect possibly damaging
Transcript: ENSMUST00000210774
AA Change: L412V

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.5%
  • 20x: 89.8%
Validation Efficiency 96% (77/80)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,400 (GRCm39) Y220H probably benign Het
4930579C12Rik T C 9: 89,034,113 (GRCm39) noncoding transcript Het
Abcc8 T C 7: 45,769,903 (GRCm39) S871G probably benign Het
Acly T C 11: 100,406,731 (GRCm39) Y288C probably damaging Het
Adgrb1 T A 15: 74,401,389 (GRCm39) D128E probably damaging Het
Alms1 C T 6: 85,598,257 (GRCm39) Q1497* probably null Het
Bltp2 A G 11: 78,164,295 (GRCm39) H1165R probably damaging Het
Cacna1c G A 6: 118,664,007 (GRCm39) T688M probably damaging Het
Ccdc7a A T 8: 129,715,247 (GRCm39) L279* probably null Het
Cep135 A G 5: 76,784,779 (GRCm39) E958G probably benign Het
Clec4n G T 6: 123,206,981 (GRCm39) V2L possibly damaging Het
Col28a1 C T 6: 8,164,612 (GRCm39) probably null Het
Dcaf5 A G 12: 80,386,603 (GRCm39) S508P probably benign Het
Dlgap2 C A 8: 14,777,809 (GRCm39) N351K possibly damaging Het
Dnah8 T A 17: 30,927,381 (GRCm39) Y1346N probably benign Het
Dqx1 T C 6: 83,037,303 (GRCm39) V322A probably damaging Het
Epha5 T C 5: 84,479,674 (GRCm39) N110S probably benign Het
Fcgbp T C 7: 27,785,564 (GRCm39) C334R probably benign Het
Glp1r T A 17: 31,149,687 (GRCm39) probably null Het
Gm4952 G T 19: 12,595,784 (GRCm39) R58L probably damaging Het
Gm7579 G A 7: 141,765,675 (GRCm39) C27Y unknown Het
Golm1 T A 13: 59,790,203 (GRCm39) probably null Het
Gucy2g T A 19: 55,198,741 (GRCm39) I801F probably benign Het
H2-D1 T C 17: 35,482,528 (GRCm39) Y83H probably damaging Het
Homez A T 14: 55,094,598 (GRCm39) I19N probably damaging Het
Hoxa5 T C 6: 52,179,628 (GRCm39) K249R probably damaging Het
Hsd17b4 A T 18: 50,311,051 (GRCm39) N550Y probably damaging Het
Ipo4 A T 14: 55,866,913 (GRCm39) N668K probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klb A G 5: 65,537,196 (GRCm39) D842G probably damaging Het
Minar1 T A 9: 89,485,152 (GRCm39) M82L possibly damaging Het
Mmp21 G T 7: 133,280,611 (GRCm39) P120T probably benign Het
Mroh7 T A 4: 106,551,589 (GRCm39) I918F possibly damaging Het
Muc5b A G 7: 141,417,517 (GRCm39) T3488A possibly damaging Het
Npc1 C T 18: 12,356,145 (GRCm39) C42Y probably damaging Het
Ogdh A G 11: 6,288,565 (GRCm39) Y214C probably damaging Het
Or2q1 G A 6: 42,795,155 (GRCm39) C250Y possibly damaging Het
Or4k15c A T 14: 50,321,359 (GRCm39) W260R probably damaging Het
Or4k35 T C 2: 111,100,275 (GRCm39) M146V probably benign Het
Or5al1 G T 2: 85,990,417 (GRCm39) T99N probably benign Het
Or8d23 A G 9: 38,841,946 (GRCm39) T160A possibly damaging Het
Phtf1 A G 3: 103,894,883 (GRCm39) probably benign Het
Plb1 A G 5: 32,511,041 (GRCm39) N1302S possibly damaging Het
Prex2 A G 1: 11,202,566 (GRCm39) K492E probably damaging Het
Prkaa1 A G 15: 5,208,259 (GRCm39) D509G probably benign Het
Rims2 C T 15: 39,300,439 (GRCm39) Q57* probably null Het
Rnf40 T C 7: 127,195,120 (GRCm39) V411A possibly damaging Het
Rraga A G 4: 86,494,681 (GRCm39) I176V probably damaging Het
Rrm2 T C 12: 24,758,611 (GRCm39) I51T probably benign Het
Serpina3a T A 12: 104,084,675 (GRCm39) probably benign Het
Skint7 T C 4: 111,839,209 (GRCm39) W168R probably damaging Het
Slc27a4 A G 2: 29,701,279 (GRCm39) M357V probably benign Het
Slc4a3 A G 1: 75,528,361 (GRCm39) H452R probably damaging Het
Smc1b A T 15: 85,011,991 (GRCm39) I127K possibly damaging Het
Snap91 T A 9: 86,665,470 (GRCm39) M383L probably benign Het
Taf6l A T 19: 8,750,998 (GRCm39) L52Q probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tas2r124 A G 6: 132,732,488 (GRCm39) I266V probably benign Het
Tesk2 T C 4: 116,657,818 (GRCm39) probably benign Het
Tmem131l T G 3: 83,817,786 (GRCm39) Q1237P possibly damaging Het
Tmem67 A G 4: 12,045,789 (GRCm39) probably null Het
Tnfaip8 T A 18: 50,223,728 (GRCm39) C179S probably damaging Het
Ush2a G A 1: 188,365,926 (GRCm39) probably null Het
Vps13b A T 15: 35,917,283 (GRCm39) E3709V probably damaging Het
Wdr7 A T 18: 63,998,511 (GRCm39) S1153C probably damaging Het
Zc2hc1b A C 10: 13,047,012 (GRCm39) probably benign Het
Zfp438 A G 18: 5,213,689 (GRCm39) I423T probably damaging Het
Zfp592 C A 7: 80,673,443 (GRCm39) P136T probably damaging Het
Zfp783 T A 6: 47,922,819 (GRCm39) noncoding transcript Het
Zfp804b A T 5: 6,821,756 (GRCm39) S400T possibly damaging 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
R4298:Ebf3 UTSW 7 136,826,958 (GRCm39) missense possibly damaging 0.95
R4393:Ebf3 UTSW 7 136,826,886 (GRCm39) missense probably damaging 0.99
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'- TAAGGGCATGGAATGTGACC -3'
(R):5'- AGTCTGGGCCATGTCATCATTG -3'

Sequencing Primer
(F):5'- TGTAACTATTGCCTCAACCCAC -3'
(R):5'- TTGCTTGCCCCACCAAGAG -3'
Posted On 2014-06-23