Incidental Mutation 'IGL02094:Ebf2'
ID279538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ebf2
Ensembl Gene ENSMUSG00000022053
Gene Nameearly B cell factor 2
SynonymsMmot1, D14Ggc1e, O/E-3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.854) question?
Stock #IGL02094
Quality Score
Status
Chromosome14
Chromosomal Location67233292-67430918 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 67235240 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 36 (V36M)
Ref Sequence ENSEMBL: ENSMUSP00000135500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022637] [ENSMUST00000176029] [ENSMUST00000176161]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022637
AA Change: V36M

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053
AA Change: V36M

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: ENSMUST00000175861
Predicted Effect possibly damaging
Transcript: ENSMUST00000176029
AA Change: V36M

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053
AA Change: V36M

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 possibly damaging
Transcript: ENSMUST00000176161
AA Change: V36M

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053
AA Change: V36M

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,871,445 N658S possibly damaging Het
Adcy10 T C 1: 165,570,620 Y1429H probably damaging Het
Aebp1 G A 11: 5,868,357 M98I probably benign Het
Arl3 T C 19: 46,558,341 D15G probably benign Het
Casp2 T A 6: 42,280,359 I414N probably damaging Het
Ceacam1 T C 7: 25,474,543 D229G probably damaging Het
Cog7 G T 7: 121,963,247 A234E probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp3a59 A T 5: 146,104,821 T392S probably benign Het
Fbxw15 A C 9: 109,558,240 V229G possibly damaging Het
Got1l1 A G 8: 27,199,845 V171A probably benign Het
Itgax A G 7: 128,131,473 Y121C probably damaging Het
Kcng4 C A 8: 119,633,221 A139S probably damaging Het
Kcnj9 G T 1: 172,325,708 T283K probably damaging Het
Mgl2 T A 11: 70,137,097 I377K possibly damaging Het
Myo15 T C 11: 60,510,647 probably benign Het
Nod1 A T 6: 54,939,390 probably null Het
Nr1h5 A T 3: 102,952,196 C182* probably null Het
Nup210l G T 3: 90,180,213 probably null Het
Ptbp2 G A 3: 119,752,940 probably benign Het
Ptpn13 T G 5: 103,594,617 F2401V probably damaging Het
Rbbp6 T C 7: 122,997,262 S676P probably damaging Het
Recql4 T A 15: 76,709,517 Q131L probably benign Het
Sbno2 G A 10: 80,057,645 P1274L probably benign Het
Sec24c T C 14: 20,688,402 V341A probably damaging Het
Smc1b A T 15: 85,097,891 probably benign Het
Sptbn1 T C 11: 30,100,659 H2310R probably benign Het
Tas2r109 T A 6: 132,980,239 I243F possibly damaging Het
Trpc1 A C 9: 95,743,281 D97E probably damaging Het
Trpm2 G A 10: 77,942,996 Q379* probably null Het
Ttn A G 2: 76,818,823 probably benign Het
Vmn2r74 A T 7: 85,961,461 F8I probably benign Het
Zfp36 C T 7: 28,377,763 S240N probably benign Het
Zfp65 A G 13: 67,708,185 I325T possibly damaging Het
Other mutations in Ebf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Ebf2 APN 14 67239478 missense probably damaging 1.00
IGL01808:Ebf2 APN 14 67414483 missense probably benign 0.01
IGL02087:Ebf2 APN 14 67428096 missense probably benign 0.03
IGL02270:Ebf2 APN 14 67238953 missense probably damaging 1.00
IGL03222:Ebf2 APN 14 67411992 splice site probably null
IGL03390:Ebf2 APN 14 67424109 missense probably benign 0.19
R0044:Ebf2 UTSW 14 67310968 intron probably benign
R0062:Ebf2 UTSW 14 67238540 splice site probably benign
R0062:Ebf2 UTSW 14 67238540 splice site probably benign
R0069:Ebf2 UTSW 14 67410050 missense probably damaging 0.99
R0069:Ebf2 UTSW 14 67410050 missense probably damaging 0.99
R0505:Ebf2 UTSW 14 67371736 nonsense probably null
R2103:Ebf2 UTSW 14 67387942 missense probably damaging 1.00
R2438:Ebf2 UTSW 14 67387942 missense probably damaging 1.00
R3789:Ebf2 UTSW 14 67239493 critical splice donor site probably null
R4153:Ebf2 UTSW 14 67235223 missense probably damaging 1.00
R4348:Ebf2 UTSW 14 67239422 missense probably damaging 0.99
R4793:Ebf2 UTSW 14 67410082 missense probably damaging 1.00
R4991:Ebf2 UTSW 14 67389657 missense possibly damaging 0.87
R5164:Ebf2 UTSW 14 67390521 missense possibly damaging 0.94
R5222:Ebf2 UTSW 14 67313594 intron probably benign
R5227:Ebf2 UTSW 14 67247069 missense probably damaging 0.99
R5459:Ebf2 UTSW 14 67235201 missense probably benign 0.34
R5622:Ebf2 UTSW 14 67390558 missense possibly damaging 0.91
R6035:Ebf2 UTSW 14 67238974 missense probably damaging 1.00
R6035:Ebf2 UTSW 14 67238974 missense probably damaging 1.00
R6265:Ebf2 UTSW 14 67424060 missense probably benign 0.00
R6893:Ebf2 UTSW 14 67237559 missense probably benign 0.22
Posted On2015-04-16