Incidental Mutation 'R5227:Ebf2'
ID 402698
Institutional Source Beutler Lab
Gene Symbol Ebf2
Ensembl Gene ENSMUSG00000022053
Gene Name early B cell factor 2
Synonyms O/E-3, D14Ggc1e, Mmot1
MMRRC Submission 042800-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 67470741-67668367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67484518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 181 (I181F)
Ref Sequence ENSEMBL: ENSMUSP00000135500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022637] [ENSMUST00000176029] [ENSMUST00000176161]
AlphaFold O08792
Predicted Effect probably damaging
Transcript: ENSMUST00000022637
AA Change: I181F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053
AA Change: I181F

DomainStartEndE-ValueType
IPT 252 336 9.09e-8 SMART
HLH 337 386 3.39e-1 SMART
internal_repeat_1 388 412 2.68e-6 PROSPERO
low complexity region 454 484 N/A INTRINSIC
low complexity region 512 531 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176029
AA Change: I181F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053
AA Change: I181F

DomainStartEndE-ValueType
Pfam:COE1_DBD 16 246 2.3e-145 PFAM
IPT 252 336 9.09e-8 SMART
HLH 337 386 3.39e-1 SMART
internal_repeat_1 388 412 2.68e-6 PROSPERO
low complexity region 454 484 N/A INTRINSIC
low complexity region 512 531 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176161
AA Change: I181F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053
AA Change: I181F

DomainStartEndE-ValueType
IPT 252 336 9.09e-8 SMART
HLH 337 386 3.39e-1 SMART
internal_repeat_1 388 412 2.68e-6 PROSPERO
low complexity region 454 484 N/A INTRINSIC
low complexity region 512 531 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mutants show decreased viability, impaired olfactory neuron projection, and impaired mating, more so in male mice. Mice homozygous for another knock-out allele exhibit narcolepsy-cataplexy syndrome and decreased orexinergic neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Alx4 T A 2: 93,507,725 (GRCm39) V340D probably damaging Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Camsap2 A G 1: 136,202,629 (GRCm39) probably benign Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Emilin3 T A 2: 160,751,185 (GRCm39) Q188L probably damaging Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fkrp T C 7: 16,544,635 (GRCm39) E409G possibly damaging Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Gpatch1 T C 7: 35,008,776 (GRCm39) N82D probably benign Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Kcna10 T G 3: 107,101,744 (GRCm39) M125R probably damaging Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pcyox1 G C 6: 86,368,726 (GRCm39) A264G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pnisr A G 4: 21,874,587 (GRCm39) probably benign Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Siglecf T C 7: 43,001,364 (GRCm39) Y111H probably damaging Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V probably benign Het
Other mutations in Ebf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Ebf2 APN 14 67,476,927 (GRCm39) missense probably damaging 1.00
IGL01808:Ebf2 APN 14 67,651,932 (GRCm39) missense probably benign 0.01
IGL02087:Ebf2 APN 14 67,665,545 (GRCm39) missense probably benign 0.03
IGL02094:Ebf2 APN 14 67,472,689 (GRCm39) missense possibly damaging 0.80
IGL02270:Ebf2 APN 14 67,476,402 (GRCm39) missense probably damaging 1.00
IGL03222:Ebf2 APN 14 67,649,441 (GRCm39) splice site probably null
IGL03390:Ebf2 APN 14 67,661,558 (GRCm39) missense probably benign 0.19
G1Funyon:Ebf2 UTSW 14 67,476,431 (GRCm39) missense possibly damaging 0.86
R0044:Ebf2 UTSW 14 67,548,417 (GRCm39) intron probably benign
R0062:Ebf2 UTSW 14 67,475,989 (GRCm39) splice site probably benign
R0062:Ebf2 UTSW 14 67,475,989 (GRCm39) splice site probably benign
R0069:Ebf2 UTSW 14 67,647,499 (GRCm39) missense probably damaging 0.99
R0069:Ebf2 UTSW 14 67,647,499 (GRCm39) missense probably damaging 0.99
R0505:Ebf2 UTSW 14 67,609,185 (GRCm39) nonsense probably null
R2103:Ebf2 UTSW 14 67,625,391 (GRCm39) missense probably damaging 1.00
R2438:Ebf2 UTSW 14 67,625,391 (GRCm39) missense probably damaging 1.00
R3789:Ebf2 UTSW 14 67,476,942 (GRCm39) critical splice donor site probably null
R4153:Ebf2 UTSW 14 67,472,672 (GRCm39) missense probably damaging 1.00
R4348:Ebf2 UTSW 14 67,476,871 (GRCm39) missense probably damaging 0.99
R4793:Ebf2 UTSW 14 67,647,531 (GRCm39) missense probably damaging 1.00
R4991:Ebf2 UTSW 14 67,627,106 (GRCm39) missense possibly damaging 0.87
R5164:Ebf2 UTSW 14 67,627,970 (GRCm39) missense possibly damaging 0.94
R5222:Ebf2 UTSW 14 67,551,043 (GRCm39) intron probably benign
R5459:Ebf2 UTSW 14 67,472,650 (GRCm39) missense probably benign 0.34
R5622:Ebf2 UTSW 14 67,628,007 (GRCm39) missense possibly damaging 0.91
R6035:Ebf2 UTSW 14 67,476,423 (GRCm39) missense probably damaging 1.00
R6035:Ebf2 UTSW 14 67,476,423 (GRCm39) missense probably damaging 1.00
R6265:Ebf2 UTSW 14 67,661,509 (GRCm39) missense probably benign 0.00
R6893:Ebf2 UTSW 14 67,475,008 (GRCm39) missense probably benign 0.22
R7078:Ebf2 UTSW 14 67,661,407 (GRCm39) missense probably benign
R7394:Ebf2 UTSW 14 67,474,975 (GRCm39) missense probably damaging 0.99
R7449:Ebf2 UTSW 14 67,647,469 (GRCm39) missense probably damaging 0.99
R7652:Ebf2 UTSW 14 67,628,016 (GRCm39) critical splice donor site probably null
R7724:Ebf2 UTSW 14 67,661,489 (GRCm39) missense probably damaging 1.00
R8143:Ebf2 UTSW 14 67,649,386 (GRCm39) nonsense probably null
R8153:Ebf2 UTSW 14 67,627,914 (GRCm39) missense probably damaging 0.97
R8301:Ebf2 UTSW 14 67,476,431 (GRCm39) missense possibly damaging 0.86
R8963:Ebf2 UTSW 14 67,665,554 (GRCm39) missense probably benign 0.34
R8978:Ebf2 UTSW 14 67,661,548 (GRCm39) missense probably benign
R9031:Ebf2 UTSW 14 67,472,594 (GRCm39) missense probably benign 0.01
R9409:Ebf2 UTSW 14 67,472,665 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCCCAGCTTCAGATTGAGGG -3'
(R):5'- AGACATCGCCAACATGAGG -3'

Sequencing Primer
(F):5'- TGATGCAGCTTGGGGTCCC -3'
(R):5'- GGAAATCCTGGCTGCAGG -3'
Posted On 2016-07-22