Incidental Mutation 'R6132:Esf1'
ID 487165
Institutional Source Beutler Lab
Gene Symbol Esf1
Ensembl Gene ENSMUSG00000045624
Gene Name ESF1 nucleolar pre-rRNA processing protein homolog
Synonyms 2610101J03Rik
MMRRC Submission 044279-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R6132 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 139961803-140012484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140001699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 383 (F383L)
Ref Sequence ENSEMBL: ENSMUSP00000036523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046030]
AlphaFold Q3V1V3
Predicted Effect probably benign
Transcript: ENSMUST00000046030
AA Change: F383L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: F383L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153769
Meta Mutation Damage Score 0.3688 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (49/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,960,643 (GRCm39) Y702H probably benign Het
Adgrv1 G T 13: 81,654,195 (GRCm39) N2225K probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh5 G T 11: 60,428,821 (GRCm39) probably benign Het
Atp5mc1 A G 11: 95,965,850 (GRCm39) M1T probably null Het
Crebrf C T 17: 26,982,377 (GRCm39) P588S probably benign Het
Ctsr A C 13: 61,309,582 (GRCm39) probably null Het
Cyp2c68 A G 19: 39,691,858 (GRCm39) V355A possibly damaging Het
Ddx52 A G 11: 83,850,283 (GRCm39) K555E possibly damaging Het
Depdc5 T A 5: 33,067,811 (GRCm39) S410T probably damaging Het
Dhx30 A T 9: 109,914,847 (GRCm39) I884N probably damaging Het
Dlg1 A T 16: 31,655,059 (GRCm39) N518I possibly damaging Het
Dnah12 T A 14: 26,439,066 (GRCm39) I506N probably damaging Het
Efcab6 A G 15: 83,917,173 (GRCm39) L129P probably damaging Het
Erap1 A G 13: 74,808,401 (GRCm39) N38D probably benign Het
Exoc4 A G 6: 33,735,033 (GRCm39) E550G probably damaging Het
Fbxo44 G A 4: 148,240,565 (GRCm39) T221I probably benign Het
Gal3st2b A T 1: 93,867,688 (GRCm39) M112L possibly damaging Het
Golph3l C G 3: 95,499,145 (GRCm39) P96A probably benign Het
Gprc6a T A 10: 51,491,356 (GRCm39) I727F possibly damaging Het
Grin3b T C 10: 79,812,274 (GRCm39) L479P probably damaging Het
Kdm5a C T 6: 120,351,892 (GRCm39) H161Y probably damaging Het
Lman2 A G 13: 55,510,038 (GRCm39) S73P probably benign Het
Map3k19 T C 1: 127,778,213 (GRCm39) N4S possibly damaging Het
Mkln1 G A 6: 31,408,155 (GRCm39) V161M probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Nrcam T A 12: 44,617,007 (GRCm39) Y668N probably damaging Het
Oacyl G T 18: 65,859,426 (GRCm39) G255W probably damaging Het
Omd A C 13: 49,743,843 (GRCm39) I298L probably damaging Het
Or5ac19 A G 16: 59,089,367 (GRCm39) V221A probably damaging Het
Or5ak24 A T 2: 85,260,490 (GRCm39) S228T probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otor A T 2: 142,920,520 (GRCm39) D34V probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pwwp2a A G 11: 43,596,455 (GRCm39) Y540C probably damaging Het
Rttn T A 18: 89,133,770 (GRCm39) probably null Het
S1pr4 G A 10: 81,335,030 (GRCm39) A148V probably benign Het
Scn10a C T 9: 119,442,761 (GRCm39) V1495M possibly damaging Het
Sel1l3 T C 5: 53,357,531 (GRCm39) K154E possibly damaging Het
Sema3a T G 5: 13,573,142 (GRCm39) probably null Het
Slf2 T A 19: 44,949,300 (GRCm39) N870K possibly damaging Het
Spmip6 C T 4: 41,517,160 (GRCm39) M1I probably null Het
Syne2 T C 12: 75,991,921 (GRCm39) V1962A probably benign Het
Tarbp1 T A 8: 127,161,548 (GRCm39) I1219F probably benign Het
Tet1 A C 10: 62,649,079 (GRCm39) C173W probably damaging Het
Tnn A G 1: 159,973,641 (GRCm39) F242S probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn2r106 T C 17: 20,488,666 (GRCm39) T578A probably benign Het
Zfp457 G T 13: 67,441,360 (GRCm39) S309* probably null 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
R0388:Esf1 UTSW 2 139,962,791 (GRCm39) missense possibly damaging 0.71
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
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'- GCATAATGCACTGCCAAATGTG -3'
(R):5'- TCATGTACTTAGAAATGAGTTTGGC -3'

Sequencing Primer
(F):5'- CTGCCAAATGTGATCAAGCTGTC -3'
(R):5'- CTTTCCTGCATTGAGTTCGAAATG -3'
Posted On 2017-10-10