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
Is this an essential gene? Probably essential (E-score: 0.893) question?
Stock # IGL02645
Quality Score
Status
Chromosome 2
Chromosomal Location 130295169-130370481 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130361841 bp (GRCm38)
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
1110017D15Rik A G 4: 41,517,080 V28A probably damaging Het
Ang4 T C 14: 51,764,347 Y48C probably damaging Het
Aox2 T A 1: 58,334,724 M848K probably damaging Het
Apol7c A T 15: 77,528,883 S56T probably benign Het
Asic4 G A 1: 75,473,354 probably benign Het
Asxl1 A G 2: 153,392,857 K162R possibly damaging Het
BC053393 A G 11: 46,586,220 R167G probably benign Het
Car12 T A 9: 66,747,679 H130Q probably benign Het
Cars T C 7: 143,557,909 E737G probably damaging Het
Ccdc141 G A 2: 77,074,867 R412* probably null Het
Cd36 T C 5: 17,785,880 T421A probably benign Het
Clasp2 T G 9: 113,890,061 M758R probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Fat2 T A 11: 55,282,828 D2353V probably damaging Het
Gm10136 A G 19: 29,003,740 probably benign Het
Intu A G 3: 40,701,272 I930V probably benign Het
Ndrg2 T A 14: 51,906,522 M300L possibly damaging Het
Nhs A G X: 162,159,058 S111P probably benign Het
Nme8 T A 13: 19,660,585 L111F probably damaging Het
Nol8 T A 13: 49,665,471 probably null Het
Olfr1148 C T 2: 87,833,615 T192M probably benign Het
Olfr1221 T C 2: 89,111,619 R298G probably benign Het
Olfr1249 T C 2: 89,630,335 T188A probably benign Het
Olfr1511 T A 14: 52,390,501 T91S possibly damaging Het
Pcdhac2 G A 18: 37,145,239 G424D probably damaging Het
Pex3 T G 10: 13,546,429 E42D possibly damaging Het
Plxnb1 C T 9: 109,114,243 probably benign Het
Rpe65 T A 3: 159,606,491 I209N probably damaging Het
Rsl1 T A 13: 67,182,209 F240L probably benign Het
Rttn A T 18: 89,110,686 I1921F probably benign Het
Scn3a A T 2: 65,514,527 F539Y probably benign Het
Secisbp2 T A 13: 51,682,460 M767K probably damaging Het
Sipa1l3 C T 7: 29,328,980 probably null Het
Slfn8 T C 11: 83,003,554 N753S possibly damaging Het
Sympk T G 7: 19,052,424 V984G probably damaging Het
Tacr3 A T 3: 134,861,182 D272V possibly damaging Het
Tnpo3 G T 6: 29,562,900 S606* probably null Het
Zfp804a T C 2: 82,053,876 L29P possibly damaging Het
Zfp94 C T 7: 24,303,754 G88R probably benign Het
Other mutations in Ebf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0313:Ebf4 UTSW 2 130306787 splice site probably benign
R1014:Ebf4 UTSW 2 130365468 missense probably benign 0.05
R1542:Ebf4 UTSW 2 130365498 missense probably benign 0.03
R1711:Ebf4 UTSW 2 130358831 missense probably damaging 1.00
R2509:Ebf4 UTSW 2 130306562 nonsense probably null
R3078:Ebf4 UTSW 2 130306499 missense probably damaging 1.00
R4821:Ebf4 UTSW 2 130307045 missense probably benign 0.37
R5974:Ebf4 UTSW 2 130365564 missense probably damaging 0.99
R6084:Ebf4 UTSW 2 130309723 missense probably damaging 1.00
R7102:Ebf4 UTSW 2 130309731 missense probably benign 0.03
R9377:Ebf4 UTSW 2 130306855 missense probably damaging 1.00
R9437:Ebf4 UTSW 2 130360085 missense probably benign 0.06
X0028:Ebf4 UTSW 2 130361988 critical splice acceptor site probably null
Posted On 2015-04-16