Incidental Mutation 'R0102:Ebf1'
ID 99005
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 038388-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.896) question?
Stock # R0102 (G1)
Quality Score 74
Status Validated
Chromosome 11
Chromosomal Location 44508144-44898918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44882282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 413 (Y413H)
Ref Sequence ENSEMBL: ENSMUSP00000099857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081265] [ENSMUST00000101326] [ENSMUST00000109268]
AlphaFold Q07802
Predicted Effect probably benign
Transcript: ENSMUST00000081265
AA Change: Y412H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: Y412H

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 benign
Transcript: ENSMUST00000101326
AA Change: Y413H

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: Y413H

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 benign
Transcript: ENSMUST00000109268
AA Change: Y405H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: Y405H

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 0.1709 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 91.8%
Validation Efficiency 98% (65/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Col1a2 T A 6: 4,520,775 (GRCm39) S371T possibly damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gad1 G A 2: 70,417,583 (GRCm39) probably null Het
Golgb1 C A 16: 36,695,830 (GRCm39) probably benign Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lrp1b G A 2: 41,298,997 (GRCm39) probably benign Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Med25 C T 7: 44,534,904 (GRCm39) V80I possibly damaging Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mki67 T C 7: 135,315,532 (GRCm39) R81G probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or11g27 T A 14: 50,771,088 (GRCm39) L73Q probably damaging Het
Or2w6 T C 13: 21,842,905 (GRCm39) D196G probably damaging Het
Or4a77 T C 2: 89,486,999 (GRCm39) N262S probably benign Het
Or4c111 T C 2: 88,844,015 (GRCm39) Y131C probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Or8h10 A T 2: 86,808,549 (GRCm39) I197N possibly damaging Het
Otp T C 13: 95,013,663 (GRCm39) V27A probably benign Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Tbc1d9b T C 11: 50,026,676 (GRCm39) V48A probably damaging Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P 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
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
R0648:Ebf1 UTSW 11 44,882,337 (GRCm39) missense probably damaging 0.99
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 2014-01-10