Incidental Mutation 'R0648:Ebf1'
ID 57358
Institutional Source Beutler Lab
Gene Symbol Ebf1
Ensembl Gene ENSMUSG00000057098
Gene Name early B cell factor 1
Synonyms Olf1, O/E-1, Olf-1
MMRRC Submission 038833-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.896) question?
Stock # R0648 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 44508144-44898918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44882337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 431 (H431L)
Ref Sequence ENSEMBL: ENSMUSP00000099857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081265] [ENSMUST00000101326] [ENSMUST00000109268]
AlphaFold Q07802
Predicted Effect possibly damaging
Transcript: ENSMUST00000081265
AA Change: H430L

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: H430L

DomainStartEndE-ValueType
IPT 261 345 7.38e-8 SMART
HLH 346 395 5.4e-2 SMART
low complexity region 526 544 N/A INTRINSIC
low complexity region 564 575 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101326
AA Change: H431L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: H431L

DomainStartEndE-ValueType
Pfam:COE1_DBD 17 247 8e-150 PFAM
IPT 262 346 7.38e-8 SMART
HLH 347 396 5.4e-2 SMART
low complexity region 527 545 N/A INTRINSIC
low complexity region 565 576 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109268
AA Change: H423L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: H423L

DomainStartEndE-ValueType
IPT 254 338 7.38e-8 SMART
HLH 339 388 5.4e-2 SMART
low complexity region 519 537 N/A INTRINSIC
low complexity region 557 568 N/A INTRINSIC
Meta Mutation Damage Score 0.5234 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (80/80)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit a reduced striatum due to excess apoptosis, altered facial branchiomotor neurone migration, and a block in B cell differentiation. Mutants are smaller than normal and many die prior to 4 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,184,632 (GRCm39) V1009A possibly damaging Het
Acta2 T C 19: 34,225,934 (GRCm39) I87V probably benign Het
Arid1a A G 4: 133,412,515 (GRCm39) Y1560H unknown Het
Bcor C T X: 11,925,290 (GRCm39) R102Q probably damaging Het
Camsap2 A T 1: 136,232,057 (GRCm39) D179E probably damaging Het
Ccdc168 A G 1: 44,095,723 (GRCm39) S1792P possibly damaging Het
Ccdc18 T A 5: 108,283,426 (GRCm39) S46T probably damaging Het
Ccdc18 A C 5: 108,322,853 (GRCm39) Q651P probably damaging Het
Cdc73 T C 1: 143,571,200 (GRCm39) T80A probably benign Het
Cdh20 T A 1: 109,993,337 (GRCm39) probably benign Het
Cenpe G A 3: 134,935,843 (GRCm39) G426D probably damaging Het
Cenpt A G 8: 106,571,592 (GRCm39) V487A probably damaging Het
Clec2m A G 6: 129,307,932 (GRCm39) F46L probably benign Het
Col4a1 G A 8: 11,296,892 (GRCm39) P84S unknown Het
Dennd2d A G 3: 106,407,871 (GRCm39) I450M probably damaging Het
Dhps C A 8: 85,799,911 (GRCm39) probably null Het
Efcab6 A G 15: 83,817,265 (GRCm39) probably benign Het
Egflam T C 15: 7,237,190 (GRCm39) H990R probably damaging Het
Ercc6l2 A G 13: 63,992,459 (GRCm39) T303A probably benign Het
Fam167b T C 4: 129,472,150 (GRCm39) K7E probably benign Het
Fgd3 T C 13: 49,450,049 (GRCm39) I67V probably benign Het
Fhip1a A C 3: 85,637,921 (GRCm39) V126G probably damaging Het
Fn1 A T 1: 71,636,744 (GRCm39) V2045D possibly damaging Het
Gnl1 A G 17: 36,293,490 (GRCm39) N225S probably damaging Het
Gpx6 A T 13: 21,503,047 (GRCm39) N154Y probably benign Het
H2bc21 A G 3: 96,128,851 (GRCm39) S124G probably benign Het
Haus8 C A 8: 71,709,174 (GRCm39) G79V probably damaging Het
Hdgfl1 A T 13: 26,953,836 (GRCm39) L79Q probably damaging Het
Impdh2 T C 9: 108,440,665 (GRCm39) Y83H probably benign Het
Lama2 T C 10: 26,865,372 (GRCm39) T2929A probably benign Het
Lpin2 T C 17: 71,536,307 (GRCm39) S199P probably benign Het
Moap1 T C 12: 102,708,776 (GRCm39) T258A probably benign Het
Mrps35 C A 6: 146,957,443 (GRCm39) S156* probably null Het
Mrtfa A G 15: 80,901,121 (GRCm39) S457P probably damaging Het
Mtbp C T 15: 55,466,597 (GRCm39) P537S probably benign Het
Ncstn C A 1: 171,895,454 (GRCm39) V565F probably benign Het
Nhsl1 A G 10: 18,407,474 (GRCm39) N1536S possibly damaging Het
Nkain4 T C 2: 180,584,905 (GRCm39) Q103R possibly damaging Het
Nsun2 T A 13: 69,775,706 (GRCm39) N383K probably damaging Het
Or13p4 C T 4: 118,547,269 (GRCm39) V127I probably benign Het
Or6c33 A G 10: 129,853,350 (GRCm39) N40S probably damaging Het
Parp1 C T 1: 180,428,005 (GRCm39) probably benign Het
Pkd1 G A 17: 24,813,911 (GRCm39) R4125H probably damaging Het
Plxnd1 T C 6: 115,970,962 (GRCm39) I269V possibly damaging Het
Polr1f C T 12: 33,487,999 (GRCm39) Q305* probably null Het
Ppp1r36dn A G 12: 76,498,070 (GRCm39) noncoding transcript Het
Qrich1 T A 9: 108,422,076 (GRCm39) N563K probably damaging Het
Rab3il1 TGAAG TGAAGAAG 19: 10,004,752 (GRCm39) probably benign Het
Rell1 G A 5: 64,082,088 (GRCm39) T271M probably benign Het
Rgl1 A G 1: 152,412,016 (GRCm39) probably null Het
Rph3a C T 5: 121,097,333 (GRCm39) R261H possibly damaging Het
Ryr2 A T 13: 11,739,219 (GRCm39) M2161K possibly damaging Het
Scaf11 T C 15: 96,316,339 (GRCm39) N1075S possibly damaging Het
Serpina3j A G 12: 104,280,938 (GRCm39) D37G probably benign Het
Siah2 A G 3: 58,583,635 (GRCm39) V217A probably damaging Het
Sik2 T C 9: 50,810,045 (GRCm39) D506G probably benign Het
Skap2 A C 6: 51,856,765 (GRCm39) V279G probably benign Het
Slc8a3 G T 12: 81,361,220 (GRCm39) T533N probably damaging Het
Slc9a7 A T X: 20,028,659 (GRCm39) probably benign Het
Snai3 G T 8: 123,181,733 (GRCm39) F241L probably damaging Het
Speg T C 1: 75,404,622 (GRCm39) S2805P probably benign Het
Spink5 A T 18: 44,132,864 (GRCm39) probably benign Het
Tctn1 C T 5: 122,389,761 (GRCm39) E254K probably benign Het
Tdrd3 C T 14: 87,709,618 (GRCm39) T100M probably damaging Het
Tex47 T C 5: 7,355,215 (GRCm39) V132A probably benign Het
Thbs3 A G 3: 89,123,972 (GRCm39) probably null Het
Tigit T A 16: 43,482,401 (GRCm39) Y111F probably damaging Het
Tmem245 A G 4: 56,906,270 (GRCm39) I148T probably benign Het
Tmem97 A G 11: 78,441,365 (GRCm39) Y39H probably benign Het
Tnks2 T A 19: 36,839,474 (GRCm39) probably null Het
Trp53bp1 A G 2: 121,066,188 (GRCm39) V846A probably benign Het
Tulp2 T G 7: 45,169,210 (GRCm39) I259S probably damaging Het
Ubxn1 G A 19: 8,851,612 (GRCm39) R215H probably damaging Het
Vmn1r17 A G 6: 57,337,460 (GRCm39) F253L probably damaging Het
Vmn2r10 T C 5: 109,143,782 (GRCm39) M723V probably benign Het
Xndc1 T C 7: 101,728,031 (GRCm39) V14A possibly damaging Het
Xpnpep1 A G 19: 52,986,294 (GRCm39) probably benign Het
Yes1 T A 5: 32,812,862 (GRCm39) M322K possibly damaging Het
Zdhhc14 C A 17: 5,543,877 (GRCm39) N52K probably benign Het
Zfp42 A G 8: 43,749,015 (GRCm39) V162A probably benign Het
Other mutations in Ebf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Ebf1 APN 11 44,759,927 (GRCm39) missense probably damaging 1.00
IGL02228:Ebf1 APN 11 44,863,739 (GRCm39) missense probably damaging 1.00
IGL02430:Ebf1 APN 11 44,815,403 (GRCm39) critical splice donor site probably null
Befuddled UTSW 11 44,523,602 (GRCm39) missense probably damaging 0.98
Catastrophic UTSW 11 44,774,712 (GRCm39) missense probably damaging 1.00
Crabapple UTSW 11 44,774,666 (GRCm39) missense probably damaging 1.00
Crater_lake UTSW 11 44,863,735 (GRCm39) nonsense probably null
ebby UTSW 11 44,774,641 (GRCm39) missense probably damaging 1.00
Oregano UTSW 11 44,759,996 (GRCm39) missense probably damaging 1.00
Oregano2 UTSW 11 44,881,331 (GRCm39) splice site probably null
Realtor UTSW 11 44,511,374 (GRCm39) missense probably benign 0.05
Vie UTSW 11 44,863,742 (GRCm39) missense probably damaging 1.00
R0102:Ebf1 UTSW 11 44,882,282 (GRCm39) missense probably benign 0.02
R0102:Ebf1 UTSW 11 44,882,282 (GRCm39) missense probably benign 0.02
R0141:Ebf1 UTSW 11 44,798,827 (GRCm39) missense probably damaging 1.00
R0230:Ebf1 UTSW 11 44,886,949 (GRCm39) missense probably damaging 1.00
R0243:Ebf1 UTSW 11 44,759,915 (GRCm39) splice site probably benign
R0268:Ebf1 UTSW 11 44,534,240 (GRCm39) missense probably damaging 0.96
R0414:Ebf1 UTSW 11 44,815,297 (GRCm39) nonsense probably null
R0765:Ebf1 UTSW 11 44,759,987 (GRCm39) missense probably damaging 0.97
R1055:Ebf1 UTSW 11 44,523,602 (GRCm39) missense probably damaging 0.98
R1432:Ebf1 UTSW 11 44,895,533 (GRCm39) splice site probably benign
R1713:Ebf1 UTSW 11 44,815,393 (GRCm39) missense probably damaging 1.00
R1749:Ebf1 UTSW 11 44,798,835 (GRCm39) missense possibly damaging 0.68
R1989:Ebf1 UTSW 11 44,512,793 (GRCm39) missense probably damaging 0.97
R2405:Ebf1 UTSW 11 44,882,349 (GRCm39) missense probably damaging 0.98
R3110:Ebf1 UTSW 11 44,534,225 (GRCm39) splice site probably benign
R4538:Ebf1 UTSW 11 44,798,822 (GRCm39) missense probably benign 0.07
R4666:Ebf1 UTSW 11 44,882,384 (GRCm39) missense probably damaging 0.99
R4855:Ebf1 UTSW 11 44,863,735 (GRCm39) nonsense probably null
R4904:Ebf1 UTSW 11 44,759,996 (GRCm39) missense probably damaging 1.00
R5137:Ebf1 UTSW 11 44,882,295 (GRCm39) missense probably damaging 1.00
R5569:Ebf1 UTSW 11 44,883,228 (GRCm39) missense possibly damaging 0.82
R5849:Ebf1 UTSW 11 44,881,331 (GRCm39) splice site probably null
R5940:Ebf1 UTSW 11 44,512,048 (GRCm39) missense probably damaging 1.00
R5989:Ebf1 UTSW 11 44,886,998 (GRCm39) missense probably damaging 1.00
R6170:Ebf1 UTSW 11 44,774,712 (GRCm39) missense probably damaging 1.00
R6512:Ebf1 UTSW 11 44,883,168 (GRCm39) missense probably damaging 1.00
R6747:Ebf1 UTSW 11 44,774,641 (GRCm39) missense probably damaging 1.00
R7031:Ebf1 UTSW 11 44,512,795 (GRCm39) missense possibly damaging 0.95
R7042:Ebf1 UTSW 11 44,882,338 (GRCm39) missense probably damaging 0.99
R8065:Ebf1 UTSW 11 44,511,374 (GRCm39) missense probably benign 0.05
R8067:Ebf1 UTSW 11 44,511,374 (GRCm39) missense probably benign 0.05
R8125:Ebf1 UTSW 11 44,863,742 (GRCm39) missense probably damaging 1.00
R8413:Ebf1 UTSW 11 44,534,274 (GRCm39) missense possibly damaging 0.92
R8863:Ebf1 UTSW 11 44,774,666 (GRCm39) missense probably damaging 1.00
R9178:Ebf1 UTSW 11 44,895,548 (GRCm39) missense probably benign 0.20
R9178:Ebf1 UTSW 11 44,883,276 (GRCm39) missense probably benign 0.04
R9511:Ebf1 UTSW 11 44,815,393 (GRCm39) missense probably benign 0.03
R9603:Ebf1 UTSW 11 44,509,006 (GRCm39) start codon destroyed probably null 0.07
Predicted Primers PCR Primer
(F):5'- TTGACCACGTAAGGCTCTGAGCAC -3'
(R):5'- CCTCTTCCCTGGGCAAGAATGATG -3'

Sequencing Primer
(F):5'- GGCTCTGAGCACAGAATATGTC -3'
(R):5'- Ttctctctctctctctctctctctc -3'
Posted On 2013-07-11