Incidental Mutation 'R5222:Ebf2'
ID 402386
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 042795-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R5222 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 67470741-67668367 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 67551043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022637] [ENSMUST00000176029] [ENSMUST00000176161]
AlphaFold O08792
Predicted Effect probably benign
Transcript: ENSMUST00000022637
SMART Domains Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053

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 noncoding transcript
Transcript: ENSMUST00000100448
Predicted Effect probably benign
Transcript: ENSMUST00000176029
SMART Domains Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053

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 benign
Transcript: ENSMUST00000176161
SMART Domains Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik C A 1: 159,872,178 (GRCm39) noncoding transcript Het
Acad11 G A 9: 103,974,576 (GRCm39) A515T probably damaging Het
Angpt1 T C 15: 42,539,730 (GRCm39) Y43C probably damaging Het
Arhgef33 A G 17: 80,644,743 (GRCm39) Y24C probably damaging Het
Cd40 G C 2: 164,908,464 (GRCm39) S180T probably benign Het
Cenpc1 A T 5: 86,185,606 (GRCm39) S302T possibly damaging Het
Cit C A 5: 116,090,602 (GRCm39) T932K probably benign Het
Col19a1 A C 1: 24,598,721 (GRCm39) probably null Het
Dapk3 A G 10: 81,028,294 (GRCm39) E288G probably damaging Het
Ddx60 T C 8: 62,437,192 (GRCm39) F1002S probably damaging Het
Dgke G T 11: 88,941,220 (GRCm39) T321K probably benign Het
Enpp7 A G 11: 118,881,788 (GRCm39) D311G probably benign Het
Epm2a A G 10: 11,324,493 (GRCm39) E194G probably damaging Het
Esf1 A G 2: 140,000,503 (GRCm39) Y428H possibly damaging Het
Esyt2 T C 12: 116,282,446 (GRCm39) F132S probably damaging Het
Gm5455 T C 13: 110,441,494 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,080,623 (GRCm39) V202E probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mark1 A T 1: 184,660,288 (GRCm39) F123I probably damaging Het
Nectin4 T A 1: 171,212,825 (GRCm39) probably null Het
Obscn T A 11: 58,934,971 (GRCm39) T5220S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2l13 A C 16: 19,305,680 (GRCm39) I31L probably benign Het
Or2p2 T A 13: 21,256,739 (GRCm39) H244L probably damaging Het
Pdcd1 A T 1: 93,980,175 (GRCm39) V14E probably damaging Het
Pmel A G 10: 128,554,853 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,362 (GRCm39) I454F possibly damaging Het
Prrx1 C T 1: 163,089,542 (GRCm39) R95Q probably damaging Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Ptprq A G 10: 107,498,425 (GRCm39) I884T probably damaging Het
Rad17 G A 13: 100,770,399 (GRCm39) T216I possibly damaging Het
Rif1 T C 2: 51,967,032 (GRCm39) I107T probably benign Het
Rpp14 T C 14: 8,087,513 (GRCm38) L69P probably damaging Het
Rtel1 G T 2: 180,988,776 (GRCm39) probably benign Het
Sap130 C T 18: 31,799,756 (GRCm39) T362M probably damaging Het
Scn11a A G 9: 119,644,268 (GRCm39) probably null Het
Sec31a G T 5: 100,530,754 (GRCm39) T243N probably benign Het
Slc5a9 T A 4: 111,755,808 (GRCm39) H30L possibly damaging Het
Slco6b1 T A 1: 96,925,216 (GRCm39) noncoding transcript Het
Smarca4 A G 9: 21,567,002 (GRCm39) D694G probably benign Het
Spaca6 A G 17: 18,058,367 (GRCm39) T213A probably benign Het
Tagap C A 17: 8,152,473 (GRCm39) Q553K possibly damaging Het
Tagap A T 17: 8,152,474 (GRCm39) Q553L possibly damaging Het
Tcf7l2 A G 19: 55,887,044 (GRCm39) Q19R probably benign Het
Ttn A G 2: 76,709,197 (GRCm39) probably benign Het
Ubr7 A T 12: 102,741,964 (GRCm39) R399S probably benign Het
Uspl1 C A 5: 149,150,911 (GRCm39) Q690K possibly damaging Het
Vps8 T A 16: 21,400,298 (GRCm39) Y853* probably null Het
Vrk3 A T 7: 44,409,220 (GRCm39) Q129L possibly damaging Het
Wapl T A 14: 34,458,642 (GRCm39) C901* probably null 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
R5227:Ebf2 UTSW 14 67,484,518 (GRCm39) missense probably damaging 0.99
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'- AGATGTATACACTGGGATTCTCACC -3'
(R):5'- CCAATGAGGAGTTGGCTTGG -3'

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