Incidental Mutation 'R0388:Esf1'
ID 31392
Institutional Source Beutler Lab
Gene Symbol Esf1
Ensembl Gene ENSMUSG00000045624
Gene Name ESF1 nucleolar pre-rRNA processing protein homolog
Synonyms 2610101J03Rik
MMRRC Submission 038594-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R0388 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 139961803-140012484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139962791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 760 (Y760F)
Ref Sequence ENSEMBL: ENSMUSP00000036523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046030]
AlphaFold Q3V1V3
Predicted Effect possibly damaging
Transcript: ENSMUST00000046030
AA Change: Y760F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: Y760F

DomainStartEndE-ValueType
coiled coil region 91 114 N/A INTRINSIC
low complexity region 192 207 N/A INTRINSIC
low complexity region 230 258 N/A INTRINSIC
coiled coil region 261 293 N/A INTRINSIC
low complexity region 539 552 N/A INTRINSIC
coiled coil region 628 652 N/A INTRINSIC
low complexity region 667 692 N/A INTRINSIC
low complexity region 730 740 N/A INTRINSIC
Pfam:NUC153 753 781 4.1e-15 PFAM
low complexity region 784 798 N/A INTRINSIC
Meta Mutation Damage Score 0.0650 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,516,347 (GRCm39) K678R probably damaging Het
Adgrg6 A G 10: 14,326,402 (GRCm39) I410T probably benign Het
Afap1l2 A C 19: 56,905,674 (GRCm39) probably benign Het
Aox1 T C 1: 58,393,565 (GRCm39) Y1242H probably damaging Het
Apoo-ps T C 13: 107,551,173 (GRCm39) noncoding transcript Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdh3 C A 8: 107,265,761 (GRCm39) T268K probably damaging Het
Chd5 T A 4: 152,456,101 (GRCm39) H923Q probably damaging Het
Chd7 T C 4: 8,854,560 (GRCm39) V1967A probably benign Het
Cntn3 T C 6: 102,254,277 (GRCm39) M222V probably damaging Het
Dcaf17 A G 2: 70,908,915 (GRCm39) K277R probably benign Het
Dmbt1 T C 7: 130,697,779 (GRCm39) probably benign Het
Dmpk T A 7: 18,818,002 (GRCm39) probably benign Het
Dzank1 A T 2: 144,318,026 (GRCm39) L714Q possibly damaging Het
Efcab3 A G 11: 105,000,227 (GRCm39) D272G possibly damaging Het
Erbb2 G C 11: 98,318,177 (GRCm39) R471P possibly damaging Het
Fanci C A 7: 79,089,378 (GRCm39) T938K probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Hspg2 T A 4: 137,238,469 (GRCm39) C319S probably damaging Het
Il12a T A 3: 68,602,520 (GRCm39) probably null Het
Inpp4a A G 1: 37,435,241 (GRCm39) D837G probably damaging Het
Kcnj5 T A 9: 32,229,159 (GRCm39) E13V probably damaging Het
Kcnq3 T A 15: 65,871,887 (GRCm39) Y594F probably benign Het
Kif16b T C 2: 142,582,857 (GRCm39) E556G probably damaging Het
Kif28 T C 1: 179,567,654 (GRCm39) I39V possibly damaging Het
Lgi2 T C 5: 52,711,891 (GRCm39) E143G probably damaging Het
Mast1 T G 8: 85,642,166 (GRCm39) I1063L probably benign Het
Med12l T C 3: 59,000,925 (GRCm39) probably benign Het
Mmp19 G T 10: 128,634,752 (GRCm39) R456L probably benign Het
Mon1b T A 8: 114,365,710 (GRCm39) V346E probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mrgpra9 A T 7: 46,902,542 (GRCm39) M1K probably null Het
Mycbp2 A T 14: 103,394,103 (GRCm39) H2819Q probably benign Het
Nav1 A C 1: 135,376,655 (GRCm39) probably benign Het
Neurl4 T C 11: 69,802,559 (GRCm39) probably benign Het
Ntng2 G C 2: 29,097,438 (GRCm39) P341R probably damaging Het
Oas1d A T 5: 121,055,091 (GRCm39) Y221F probably damaging Het
Or1j19 C A 2: 36,676,874 (GRCm39) D112E probably benign Het
Or1l4 A C 2: 37,092,196 (GRCm39) probably null Het
Or5al6 A G 2: 85,976,974 (GRCm39) Y35H probably damaging Het
Osbpl8 A G 10: 111,108,143 (GRCm39) M380V probably benign Het
Pank1 T C 19: 34,799,106 (GRCm39) probably benign Het
Parn T C 16: 13,472,340 (GRCm39) D169G possibly damaging Het
Pknox1 T A 17: 31,822,166 (GRCm39) I311N probably damaging Het
Pprc1 T C 19: 46,051,214 (GRCm39) V248A possibly damaging Het
Prkcq T C 2: 11,259,045 (GRCm39) C322R probably benign Het
Ptpn13 T A 5: 103,702,928 (GRCm39) I1298N probably benign Het
Rab11fip3 A G 17: 26,288,046 (GRCm39) S36P probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sass6 C A 3: 116,400,957 (GRCm39) probably benign Het
Shroom3 G A 5: 93,099,152 (GRCm39) G1463D probably benign Het
Slc35d1 A T 4: 103,042,084 (GRCm39) Y249* probably null Het
Slc9a3 C T 13: 74,269,655 (GRCm39) P8S unknown Het
Slc9a9 T A 9: 94,821,616 (GRCm39) probably null Het
Sting1 A G 18: 35,868,164 (GRCm39) probably null Het
Syne2 T A 12: 76,033,749 (GRCm39) M3666K probably benign Het
Synpo2 A G 3: 122,873,546 (GRCm39) V1140A probably benign Het
Thada A G 17: 84,538,524 (GRCm39) F1495L probably benign Het
Timeless A G 10: 128,077,294 (GRCm39) probably null Het
Tlr6 G T 5: 65,112,548 (GRCm39) H120N possibly damaging Het
Tns3 T C 11: 8,395,703 (GRCm39) I1234V probably benign Het
Ttll9 A G 2: 152,842,099 (GRCm39) S318G probably benign Het
Vps13c T C 9: 67,830,197 (GRCm39) probably benign Het
Zfp933 T C 4: 147,910,899 (GRCm39) I232M probably benign Het
Zfyve27 T C 19: 42,178,024 (GRCm39) S382P probably damaging Het
Other mutations in Esf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Esf1 APN 2 140,009,737 (GRCm39) missense probably benign 0.09
IGL01075:Esf1 APN 2 139,962,665 (GRCm39) missense probably benign 0.01
IGL01777:Esf1 APN 2 139,999,092 (GRCm39) splice site probably null
IGL01863:Esf1 APN 2 139,962,599 (GRCm39) missense probably benign 0.00
IGL01982:Esf1 APN 2 140,006,448 (GRCm39) missense probably benign 0.00
IGL02040:Esf1 APN 2 139,971,181 (GRCm39) missense possibly damaging 0.70
IGL02063:Esf1 APN 2 140,006,377 (GRCm39) missense possibly damaging 0.88
IGL03063:Esf1 APN 2 139,996,706 (GRCm39) unclassified probably benign
PIT4418001:Esf1 UTSW 2 140,001,697 (GRCm39) missense probably benign 0.18
R0255:Esf1 UTSW 2 139,990,843 (GRCm39) unclassified probably benign
R0564:Esf1 UTSW 2 140,000,506 (GRCm39) missense possibly damaging 0.86
R0655:Esf1 UTSW 2 139,990,799 (GRCm39) missense probably benign 0.25
R0831:Esf1 UTSW 2 140,010,279 (GRCm39) missense probably damaging 1.00
R1642:Esf1 UTSW 2 140,000,406 (GRCm39) missense possibly damaging 0.85
R1984:Esf1 UTSW 2 139,990,806 (GRCm39) missense possibly damaging 0.83
R3981:Esf1 UTSW 2 140,000,476 (GRCm39) missense probably benign 0.40
R4736:Esf1 UTSW 2 139,966,891 (GRCm39) missense probably damaging 0.98
R5083:Esf1 UTSW 2 139,998,991 (GRCm39) missense possibly damaging 0.93
R5083:Esf1 UTSW 2 140,000,499 (GRCm39) missense possibly damaging 0.96
R5222:Esf1 UTSW 2 140,000,503 (GRCm39) missense possibly damaging 0.86
R5347:Esf1 UTSW 2 139,996,801 (GRCm39) nonsense probably null
R5654:Esf1 UTSW 2 140,006,148 (GRCm39) missense possibly damaging 0.85
R6123:Esf1 UTSW 2 140,010,309 (GRCm39) missense probably benign 0.01
R6132:Esf1 UTSW 2 140,001,699 (GRCm39) missense probably benign 0.18
R6299:Esf1 UTSW 2 139,965,554 (GRCm39) missense possibly damaging 0.53
R6484:Esf1 UTSW 2 140,000,458 (GRCm39) missense probably benign 0.03
R6541:Esf1 UTSW 2 140,009,799 (GRCm39) missense probably benign 0.00
R6674:Esf1 UTSW 2 139,962,726 (GRCm39) nonsense probably null
R7203:Esf1 UTSW 2 140,006,139 (GRCm39) missense possibly damaging 0.53
R7309:Esf1 UTSW 2 139,967,011 (GRCm39) splice site probably null
R7379:Esf1 UTSW 2 139,996,854 (GRCm39) missense probably benign 0.33
R8131:Esf1 UTSW 2 139,990,751 (GRCm39) nonsense probably null
R8270:Esf1 UTSW 2 139,997,033 (GRCm39) unclassified probably benign
R9066:Esf1 UTSW 2 139,990,693 (GRCm39) missense probably benign 0.02
R9186:Esf1 UTSW 2 139,990,792 (GRCm39) missense possibly damaging 0.96
R9618:Esf1 UTSW 2 140,001,714 (GRCm39) missense probably benign 0.03
R9688:Esf1 UTSW 2 140,010,095 (GRCm39) missense probably damaging 0.97
RF006:Esf1 UTSW 2 140,006,294 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- TGAGGCGAGAGCAGTTATTTGACC -3'
(R):5'- TGCCTTGGGAACCACTTCTCTAGTC -3'

Sequencing Primer
(F):5'- AGAGCAGTTATTTGACCCTCTG -3'
(R):5'- tgcctgtaatcccagttctc -3'
Posted On 2013-04-24