Incidental Mutation 'R8978:Ebf2'
ID 683594
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 068811-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R8978 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 67470741-67668367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67661548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 559 (G559S)
Ref Sequence ENSEMBL: ENSMUSP00000022637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022637] [ENSMUST00000176029] [ENSMUST00000176161]
AlphaFold O08792
Predicted Effect probably benign
Transcript: ENSMUST00000022637
AA Change: G559S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053
AA Change: G559S

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 benign
Transcript: ENSMUST00000176029
AA Change: G559S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053
AA Change: G559S

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
AA Change: G559S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053
AA Change: G559S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 99% (66/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,192,395 (GRCm39) F224L probably benign Het
Adam39 A G 8: 41,278,707 (GRCm39) D366G probably damaging Het
Adamts14 T A 10: 61,038,795 (GRCm39) E902V probably damaging Het
Adamts6 T C 13: 104,512,247 (GRCm39) C490R probably damaging Het
Btbd3 T C 2: 138,126,055 (GRCm39) V413A possibly damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdadc1 G T 14: 59,813,197 (GRCm39) N403K probably damaging Het
Cdc27 C T 11: 104,399,211 (GRCm39) V734I possibly damaging Het
Celf3 A G 3: 94,392,667 (GRCm39) D122G probably benign Het
Chgb T C 2: 132,634,498 (GRCm39) S147P probably benign Het
Col9a1 G A 1: 24,278,396 (GRCm39) G808D probably damaging Het
Cpne7 A G 8: 123,861,177 (GRCm39) probably null Het
Crhr1 T C 11: 104,064,480 (GRCm39) F330S possibly damaging Het
Csmd1 A C 8: 15,971,056 (GRCm39) N3086K probably benign Het
Ctnnb1 A G 9: 120,786,650 (GRCm39) D624G probably damaging Het
Dcaf8 G A 1: 172,022,124 (GRCm39) R554H probably benign Het
Dmbt1 T C 7: 130,639,611 (GRCm39) Y50H possibly damaging Het
Dmxl1 T C 18: 50,055,679 (GRCm39) L2573P probably benign Het
Fancd2 A G 6: 113,562,507 (GRCm39) probably benign Het
Fkbp10 A T 11: 100,313,936 (GRCm39) I427F probably benign Het
Gipc1 T C 8: 84,389,046 (GRCm39) probably null Het
Gm1110 A T 9: 26,807,095 (GRCm39) probably benign Het
Gsdmc3 A G 15: 63,731,455 (GRCm39) L359P probably damaging Het
Hspg2 A G 4: 137,291,341 (GRCm39) D3897G probably benign Het
Ift122 T A 6: 115,902,769 (GRCm39) M1117K possibly damaging Het
Itgbl1 A T 14: 124,209,617 (GRCm39) D456V probably damaging Het
Itprid2 T A 2: 79,491,257 (GRCm39) L1014Q probably damaging Het
Kctd1 G T 18: 15,119,491 (GRCm39) L675I Het
Kyat3 C T 3: 142,443,596 (GRCm39) T403M probably benign Het
Ltbp2 T C 12: 84,834,164 (GRCm39) T1442A probably benign Het
Mier2 A C 10: 79,376,790 (GRCm39) S45R unknown Het
Mon2 T A 10: 122,871,469 (GRCm39) K383* probably null Het
Mroh4 G T 15: 74,499,473 (GRCm39) T136K probably benign Het
Mtif3 A T 5: 146,895,846 (GRCm39) S80R probably benign Het
Myh2 A C 11: 67,068,188 (GRCm39) E272A probably damaging Het
Myh2 A G 11: 67,080,323 (GRCm39) Q1179R probably damaging Het
Nfatc3 G A 8: 106,835,402 (GRCm39) C916Y probably benign Het
Or13a17 A T 7: 140,271,642 (GRCm39) T275S probably benign Het
Or2w2 T A 13: 21,758,279 (GRCm39) T116S probably benign Het
Or7g21 T A 9: 19,032,582 (GRCm39) C107* probably null Het
Orc2 T C 1: 58,511,499 (GRCm39) D370G possibly damaging Het
Pate7 A T 9: 35,688,069 (GRCm39) probably benign Het
Pcdhga6 T A 18: 37,840,716 (GRCm39) N145K probably benign Het
Pih1d2 A G 9: 50,536,232 (GRCm39) M296V probably benign Het
Prickle4 A T 17: 47,999,772 (GRCm39) probably benign Het
Rabl6 G A 2: 25,477,541 (GRCm39) P303L probably damaging Het
Rara T G 11: 98,862,595 (GRCm39) I332S probably damaging Het
Reln A G 5: 22,090,512 (GRCm39) F3449L possibly damaging Het
Rhoq T C 17: 87,271,767 (GRCm39) L61P Het
Rigi A G 4: 40,239,650 (GRCm39) I16T probably damaging Het
Slc6a15 G A 10: 103,230,953 (GRCm39) W226* probably null Het
Spef2 A T 15: 9,725,263 (GRCm39) S165T possibly damaging Het
Stab2 T C 10: 86,785,782 (GRCm39) N620S possibly damaging Het
Suds3 A G 5: 117,232,973 (GRCm39) probably null Het
Sult1b1 A G 5: 87,682,900 (GRCm39) I15T possibly damaging Het
Synm C A 7: 67,384,672 (GRCm39) V997L probably damaging Het
Tgfbi C A 13: 56,778,391 (GRCm39) D387E probably benign Het
Thrb T C 14: 17,981,886 (GRCm38) C4R possibly damaging Het
Tk2 A G 8: 104,957,809 (GRCm39) V179A possibly damaging Het
Trim25 T C 11: 88,907,027 (GRCm39) V462A probably benign Het
Tub T C 7: 108,629,393 (GRCm39) Y483H probably damaging Het
Vav1 A G 17: 57,603,710 (GRCm39) T131A probably benign Het
Vav1 A G 17: 57,631,650 (GRCm39) T781A probably benign Het
Zbtb34 A G 2: 33,301,048 (GRCm39) S498P possibly damaging Het
Zfp568 T A 7: 29,716,683 (GRCm39) H194Q probably benign Het
Zfp683 A T 4: 133,781,239 (GRCm39) Q18L 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
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
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'- AACGATGGCTTCCTGATGAGC -3'
(R):5'- ACCCAGCATTGGTGTAGCAC -3'

Sequencing Primer
(F):5'- GATGAGCCCCCTCCTAAAGAGTG -3'
(R):5'- TGTAGCACCAGGCCAGCAC -3'
Posted On 2021-10-11