Incidental Mutation 'R6035:Ebf2'
ID 479178
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 044207-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R6035 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 67470741-67668367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67476423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 131 (D131G)
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: D131G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053
AA Change: D131G

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: D131G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053
AA Change: D131G

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: D131G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053
AA Change: D131G

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: ENSMUST00000177231
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 98.9%
  • 10x: 91.8%
  • 20x: 70.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,615,353 (GRCm39) G76W probably damaging Het
Abca17 A T 17: 24,500,219 (GRCm39) F1324Y possibly damaging Het
Abca8b A T 11: 109,862,686 (GRCm39) probably null Het
Abcc12 A G 8: 87,244,033 (GRCm39) M1040T probably damaging Het
Abtb1 A G 6: 88,818,788 (GRCm39) F7L probably damaging Het
Adcy9 T C 16: 4,122,377 (GRCm39) T558A probably benign Het
Adgrb1 A T 15: 74,412,292 (GRCm39) T424S possibly damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ankrd31 C A 13: 96,968,721 (GRCm39) P786Q probably benign Het
Arhgap39 G T 15: 76,621,424 (GRCm39) Y392* probably null Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Carmil2 G T 8: 106,419,195 (GRCm39) W749L probably benign Het
Ccar1 A G 10: 62,587,564 (GRCm39) Y867H unknown Het
Cdh13 A G 8: 119,232,437 (GRCm39) D47G probably benign Het
Chst9 T A 18: 15,585,910 (GRCm39) T218S probably benign Het
Clec2i G A 6: 128,870,587 (GRCm39) V67I probably benign Het
Cox7a2 T A 9: 79,667,028 (GRCm39) probably benign Het
Cplx3 A G 9: 57,519,030 (GRCm39) probably null Het
Cpz A G 5: 35,674,929 (GRCm39) C107R probably damaging Het
Dapk1 T A 13: 60,909,013 (GRCm39) C1209S possibly damaging Het
Ddx41 T C 13: 55,681,781 (GRCm39) M307V probably benign Het
Defa24 A G 8: 22,224,565 (GRCm39) I5V probably benign Het
Dgcr8 A T 16: 18,076,178 (GRCm39) N2K probably damaging Het
Fam149b C T 14: 20,427,985 (GRCm39) R424C probably damaging Het
Fbln2 G A 6: 91,240,335 (GRCm39) V714M probably damaging Het
Fgf5 T C 5: 98,423,385 (GRCm39) Y257H probably damaging Het
Fmo3 A C 1: 162,791,605 (GRCm39) V224G probably damaging Het
Gigyf2 T C 1: 87,338,450 (GRCm39) I394T possibly damaging Het
Glmn T A 5: 107,741,746 (GRCm39) probably null Het
Greb1l T C 18: 10,501,025 (GRCm39) I385T possibly damaging Het
Grhl1 C A 12: 24,658,449 (GRCm39) Q365K probably benign Het
Gsdme G A 6: 50,206,306 (GRCm39) T179M probably damaging Het
Gtf2a1l A G 17: 89,018,962 (GRCm39) T349A probably benign Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Il5ra G A 6: 106,718,226 (GRCm39) T76I probably damaging Het
Itga8 T C 2: 12,196,525 (GRCm39) T631A probably benign Het
Kcnh6 G A 11: 105,909,978 (GRCm39) probably null Het
Krt26 C T 11: 99,224,415 (GRCm39) E368K probably benign Het
Lhx9 T C 1: 138,766,281 (GRCm39) D169G possibly damaging Het
Lmod3 A G 6: 97,224,234 (GRCm39) L529P probably damaging Het
Mroh2a G A 1: 88,158,390 (GRCm39) V146M probably damaging Het
Nup155 A G 15: 8,173,577 (GRCm39) T891A probably benign Het
Or11g24 A G 14: 50,661,984 (GRCm39) T3A probably benign Het
Or1e1 T C 11: 73,244,582 (GRCm39) M1T probably null Het
Or1j13 T A 2: 36,369,996 (GRCm39) I49F probably damaging Het
Or1p4-ps1 T C 11: 74,208,285 (GRCm39) *145R probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Papln G C 12: 83,821,454 (GRCm39) G262A probably damaging Het
Pdcd1lg2 G A 19: 29,423,435 (GRCm39) V160I probably benign Het
Pde8b A G 13: 95,164,105 (GRCm39) probably benign Het
Ppme1 G A 7: 100,004,002 (GRCm39) R68* probably null Het
Ptprn2 A T 12: 117,219,215 (GRCm39) N949Y probably damaging Het
Qser1 C A 2: 104,617,468 (GRCm39) D1115Y probably damaging Het
Rad54l G T 4: 115,954,666 (GRCm39) D674E probably damaging Het
Ripk4 T A 16: 97,545,387 (GRCm39) D420V probably damaging Het
Ros1 G T 10: 51,954,067 (GRCm39) S1857R probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsf1 A G 7: 97,311,316 (GRCm39) E682G probably benign Het
Samd4 G A 14: 47,325,329 (GRCm39) R515H probably damaging Het
Selp T A 1: 163,969,079 (GRCm39) W560R probably benign Het
Shc3 A T 13: 51,615,468 (GRCm39) L163Q probably damaging Het
Shh G A 5: 28,666,397 (GRCm39) A163V probably damaging Het
Slc17a8 T C 10: 89,427,937 (GRCm39) R113G possibly damaging Het
Slc5a6 C A 5: 31,206,168 (GRCm39) probably benign Het
Smarcd2 A G 11: 106,157,715 (GRCm39) probably null Het
Sytl3 A G 17: 6,995,664 (GRCm39) D148G probably damaging Het
Tnks G T 8: 35,385,615 (GRCm39) H297Q possibly damaging Het
Trbv21 A T 6: 41,179,568 (GRCm39) probably benign Het
Ube3c T C 5: 29,806,161 (GRCm39) F268L probably benign Het
Ugt2b5 T C 5: 87,287,541 (GRCm39) I209V probably benign Het
Usp1 A G 4: 98,818,082 (GRCm39) N140S probably damaging Het
Vcam1 T C 3: 115,919,606 (GRCm39) Y226C probably damaging Het
Vmn1r129 T A 7: 21,094,534 (GRCm39) Q228L probably damaging Het
Vmn1r209 T A 13: 22,990,202 (GRCm39) N163Y probably benign Het
Vmn1r85 A G 7: 12,818,854 (GRCm39) S97P probably damaging Het
Vmn2r30 C T 7: 7,337,350 (GRCm39) M95I probably benign Het
Vmn2r74 G A 7: 85,601,098 (GRCm39) R847C probably damaging Het
Wdr70 G A 15: 7,916,830 (GRCm39) T529I possibly damaging Het
Zfp532 T G 18: 65,757,005 (GRCm39) S313A possibly damaging Het
Zhx3 A T 2: 160,621,463 (GRCm39) N901K 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
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
Posted On 2017-06-26