Incidental Mutation 'IGL02645:Ebf4'
ID 301896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ebf4
Ensembl Gene ENSMUSG00000053552
Gene Name early B cell factor 4
Synonyms O/E-4, Olf-1/EBF-like 4
Accession Numbers
Essential gene? Probably essential (E-score: 0.861) question?
Stock # IGL02645
Quality Score
Status
Chromosome 2
Chromosomal Location 130137089-130212401 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130203761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 471 (K471E)
Ref Sequence ENSEMBL: ENSMUSP00000105917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110286] [ENSMUST00000110287] [ENSMUST00000110288] [ENSMUST00000126740] [ENSMUST00000140169]
AlphaFold Q8K4J2
Predicted Effect probably damaging
Transcript: ENSMUST00000110286
AA Change: K374E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105915
Gene: ENSMUSG00000053552
AA Change: K374E

DomainStartEndE-ValueType
IPT 255 339 1.09e-5 SMART
HLH 340 389 7.22e-1 SMART
internal_repeat_1 391 406 1.45e-5 PROSPERO
low complexity region 407 426 N/A INTRINSIC
low complexity region 464 487 N/A INTRINSIC
low complexity region 512 534 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110287
AA Change: K374E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105916
Gene: ENSMUSG00000053552
AA Change: K374E

DomainStartEndE-ValueType
IPT 255 339 1.09e-5 SMART
HLH 340 389 7.22e-1 SMART
internal_repeat_1 391 406 1.25e-5 PROSPERO
low complexity region 407 426 N/A INTRINSIC
low complexity region 462 480 N/A INTRINSIC
low complexity region 482 504 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110288
AA Change: K471E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105917
Gene: ENSMUSG00000053552
AA Change: K471E

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
low complexity region 69 101 N/A INTRINSIC
Pfam:COE1_DBD 114 345 3.6e-148 PFAM
IPT 352 436 1.09e-5 SMART
HLH 437 486 7.22e-1 SMART
internal_repeat_1 488 503 3.82e-7 PROSPERO
low complexity region 504 523 N/A INTRINSIC
low complexity region 561 584 N/A INTRINSIC
low complexity region 609 631 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000126740
AA Change: K374E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133528
Gene: ENSMUSG00000053552
AA Change: K374E

DomainStartEndE-ValueType
IPT 255 339 1.09e-5 SMART
HLH 340 389 7.22e-1 SMART
internal_repeat_1 391 406 1.27e-5 PROSPERO
low complexity region 407 426 N/A INTRINSIC
low complexity region 464 487 N/A INTRINSIC
low complexity region 512 534 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134728
Predicted Effect probably damaging
Transcript: ENSMUST00000140169
AA Change: K374E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134520
Gene: ENSMUSG00000053552
AA Change: K374E

DomainStartEndE-ValueType
IPT 255 339 1.09e-5 SMART
HLH 340 389 7.22e-1 SMART
internal_repeat_1 391 406 3.44e-5 PROSPERO
low complexity region 407 426 N/A INTRINSIC
low complexity region 464 487 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 T C 14: 52,001,804 (GRCm39) Y48C probably damaging Het
Aox1 T A 1: 58,373,883 (GRCm39) M848K probably damaging Het
Apol7c A T 15: 77,413,083 (GRCm39) S56T probably benign Het
Asic4 G A 1: 75,449,998 (GRCm39) probably benign Het
Asxl1 A G 2: 153,234,777 (GRCm39) K162R possibly damaging Het
Car12 T A 9: 66,654,961 (GRCm39) H130Q probably benign Het
Cars1 T C 7: 143,111,646 (GRCm39) E737G probably damaging Het
Ccdc141 G A 2: 76,905,211 (GRCm39) R412* probably null Het
Cd36 T C 5: 17,990,878 (GRCm39) T421A probably benign Het
Clasp2 T G 9: 113,719,129 (GRCm39) M758R probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Fat2 T A 11: 55,173,654 (GRCm39) D2353V probably damaging Het
Gm10136 A G 19: 28,981,140 (GRCm39) probably benign Het
Intu A G 3: 40,655,702 (GRCm39) I930V probably benign Het
Ndrg2 T A 14: 52,143,979 (GRCm39) M300L possibly damaging Het
Nhs A G X: 160,942,054 (GRCm39) S111P probably benign Het
Nme8 T A 13: 19,844,755 (GRCm39) L111F probably damaging Het
Nol8 T A 13: 49,818,947 (GRCm39) probably null Het
Or10g1b T A 14: 52,627,958 (GRCm39) T91S possibly damaging Het
Or12e13 C T 2: 87,663,959 (GRCm39) T192M probably benign Het
Or4a76 T C 2: 89,460,679 (GRCm39) T188A probably benign Het
Or4c116 T C 2: 88,941,963 (GRCm39) R298G probably benign Het
Pcdhac2 G A 18: 37,278,292 (GRCm39) G424D probably damaging Het
Pex3 T G 10: 13,422,173 (GRCm39) E42D possibly damaging Het
Plxnb1 C T 9: 108,943,311 (GRCm39) probably benign Het
Rpe65 T A 3: 159,312,128 (GRCm39) I209N probably damaging Het
Rsl1 T A 13: 67,330,273 (GRCm39) F240L probably benign Het
Rttn A T 18: 89,128,810 (GRCm39) I1921F probably benign Het
Scn3a A T 2: 65,344,871 (GRCm39) F539Y probably benign Het
Secisbp2 T A 13: 51,836,496 (GRCm39) M767K probably damaging Het
Sipa1l3 C T 7: 29,028,405 (GRCm39) probably null Het
Slfn8 T C 11: 82,894,380 (GRCm39) N753S possibly damaging Het
Spmip6 A G 4: 41,517,080 (GRCm39) V28A probably damaging Het
Sympk T G 7: 18,786,349 (GRCm39) V984G probably damaging Het
Tacr3 A T 3: 134,566,943 (GRCm39) D272V possibly damaging Het
Timd6 A G 11: 46,477,047 (GRCm39) R167G probably benign Het
Tnpo3 G T 6: 29,562,899 (GRCm39) S606* probably null Het
Zfp804a T C 2: 81,884,220 (GRCm39) L29P possibly damaging Het
Zfp94 C T 7: 24,003,179 (GRCm39) G88R probably benign Het
Other mutations in Ebf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0313:Ebf4 UTSW 2 130,148,707 (GRCm39) splice site probably benign
R1014:Ebf4 UTSW 2 130,207,388 (GRCm39) missense probably benign 0.05
R1542:Ebf4 UTSW 2 130,207,418 (GRCm39) missense probably benign 0.03
R1711:Ebf4 UTSW 2 130,200,751 (GRCm39) missense probably damaging 1.00
R2509:Ebf4 UTSW 2 130,148,482 (GRCm39) nonsense probably null
R3078:Ebf4 UTSW 2 130,148,419 (GRCm39) missense probably damaging 1.00
R4821:Ebf4 UTSW 2 130,148,965 (GRCm39) missense probably benign 0.37
R5974:Ebf4 UTSW 2 130,207,484 (GRCm39) missense probably damaging 0.99
R6084:Ebf4 UTSW 2 130,151,643 (GRCm39) missense probably damaging 1.00
R7102:Ebf4 UTSW 2 130,151,651 (GRCm39) missense probably benign 0.03
R9377:Ebf4 UTSW 2 130,148,775 (GRCm39) missense probably damaging 1.00
R9437:Ebf4 UTSW 2 130,202,005 (GRCm39) missense probably benign 0.06
X0028:Ebf4 UTSW 2 130,203,908 (GRCm39) critical splice acceptor site probably null
Posted On 2015-04-16