Incidental Mutation 'R5083:Esf1'
ID 387228
Institutional Source Beutler Lab
Gene Symbol Esf1
Ensembl Gene ENSMUSG00000045624
Gene Name ESF1 nucleolar pre-rRNA processing protein homolog
Synonyms 2610101J03Rik
MMRRC Submission 042672-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R5083 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 139961803-140012484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 139998991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 495 (A495E)
Ref Sequence ENSEMBL: ENSMUSP00000036523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046030] [ENSMUST00000104994]
AlphaFold Q3V1V3
Predicted Effect possibly damaging
Transcript: ENSMUST00000046030
AA Change: A495E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: A495E

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 probably benign
Transcript: ENSMUST00000104994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153769
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik C T 17: 48,473,558 (GRCm39) V120M possibly damaging Het
Abca6 T C 11: 110,109,793 (GRCm39) D646G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Arid1b A G 17: 5,364,293 (GRCm39) T554A possibly damaging Het
Atp2a3 G T 11: 72,873,652 (GRCm39) V824L probably null Het
Bet1 T C 6: 4,077,895 (GRCm39) I115V possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cfap65 A G 1: 74,945,600 (GRCm39) S1373P probably damaging Het
Chd9 T C 8: 91,711,002 (GRCm39) L353P probably damaging Het
Chil3 C A 3: 106,071,405 (GRCm39) probably null Het
Comp C T 8: 70,833,950 (GRCm39) T655M probably damaging Het
Dctd T C 8: 48,564,751 (GRCm39) Y18H probably damaging Het
Ddx39b G A 17: 35,472,005 (GRCm39) G348D possibly damaging Het
Dhx36 A T 3: 62,379,420 (GRCm39) S889R probably benign Het
Dtx2 T C 5: 136,041,044 (GRCm39) Y150H probably damaging Het
Epx A G 11: 87,763,506 (GRCm39) F238S probably damaging Het
Ergic2 T C 6: 148,097,512 (GRCm39) T154A probably benign Het
Esco1 A G 18: 10,594,734 (GRCm39) I184T probably benign Het
Fcho1 C A 8: 72,169,820 (GRCm39) R101L probably benign Het
Foxn4 T A 5: 114,394,988 (GRCm39) D313V probably damaging Het
Gm11568 T C 11: 99,748,798 (GRCm39) M1T probably null Het
Gphn T A 12: 78,670,063 (GRCm39) probably null Het
Grid2 C T 6: 64,297,136 (GRCm39) Q500* probably null Het
Igsf10 A G 3: 59,233,694 (GRCm39) S1680P probably damaging Het
Ints12 T C 3: 132,806,538 (GRCm39) M155T possibly damaging Het
Invs A T 4: 48,396,307 (GRCm39) M327L possibly damaging Het
Kdm3a T C 6: 71,598,346 (GRCm39) E180G probably damaging Het
Mgat3 G A 15: 80,095,499 (GRCm39) V109M possibly damaging Het
Mrgprb3 A G 7: 48,292,762 (GRCm39) V263A probably benign Het
Mroh7 A T 4: 106,547,515 (GRCm39) V1109D probably benign Het
Myo15b A T 11: 115,757,482 (GRCm39) T1111S probably benign Het
Myo19 G T 11: 84,794,037 (GRCm39) A654S possibly damaging Het
Mypn A T 10: 62,954,307 (GRCm39) V1224D probably damaging Het
Nalcn A G 14: 123,560,706 (GRCm39) probably null Het
Or2a52 G T 6: 43,144,273 (GRCm39) A94S probably benign Het
Or52e7 A T 7: 104,684,618 (GRCm39) Y71F probably damaging Het
Or8c10 G A 9: 38,279,358 (GRCm39) C172Y possibly damaging Het
Pdcd2 A G 17: 15,743,084 (GRCm39) I247T possibly damaging Het
Pik3c2a A T 7: 115,941,636 (GRCm39) N1571K probably damaging Het
Plagl2 T C 2: 153,077,964 (GRCm39) T6A probably benign Het
Ros1 T A 10: 52,040,037 (GRCm39) Y318F possibly damaging Het
Sdccag8 C A 1: 176,652,458 (GRCm39) H70N probably damaging Het
Skint1 A G 4: 111,886,630 (GRCm39) R359G probably benign Het
Slc44a5 A T 3: 153,953,424 (GRCm39) I269L probably benign Het
Slfn10-ps T A 11: 82,921,341 (GRCm39) noncoding transcript Het
Suclg1 C A 6: 73,240,963 (GRCm39) T164K probably benign Het
Tgds C A 14: 118,353,491 (GRCm39) probably null Het
Ttn T C 2: 76,643,877 (GRCm39) D13117G probably damaging Het
Ttn T C 2: 76,701,081 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,483,671 (GRCm39) I843N possibly damaging Het
Vmn2r52 A T 7: 9,893,392 (GRCm39) Y582* probably null Het
Vps33b G T 7: 79,924,389 (GRCm39) K65N probably damaging Het
Zfp1010 A G 2: 176,957,364 (GRCm39) F45L 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
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 2 140,000,499 (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'- GCAAACAGTATAGTATCCAATGCAC -3'
(R):5'- CCAAGGTTGTTTCTAGCCATTG -3'

Sequencing Primer
(F):5'- GTATAGTATCCAATGCACAAACACTC -3'
(R):5'- AAGGTTGTTTCTAGCCATTGCATTTG -3'
Posted On 2016-06-06