Incidental Mutation 'R5222:Esf1'
ID 402356
Institutional Source Beutler Lab
Gene Symbol Esf1
Ensembl Gene ENSMUSG00000045624
Gene Name ESF1 nucleolar pre-rRNA processing protein homolog
Synonyms 2610101J03Rik
MMRRC Submission 042795-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R5222 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 139961803-140012484 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140000503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 428 (Y428H)
Ref Sequence ENSEMBL: ENSMUSP00000036523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046030]
AlphaFold Q3V1V3
Predicted Effect possibly damaging
Transcript: ENSMUST00000046030
AA Change: Y428H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: Y428H

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 0.3743 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik C A 1: 159,872,178 (GRCm39) noncoding transcript Het
Acad11 G A 9: 103,974,576 (GRCm39) A515T probably damaging Het
Angpt1 T C 15: 42,539,730 (GRCm39) Y43C probably damaging Het
Arhgef33 A G 17: 80,644,743 (GRCm39) Y24C probably damaging Het
Cd40 G C 2: 164,908,464 (GRCm39) S180T probably benign Het
Cenpc1 A T 5: 86,185,606 (GRCm39) S302T possibly damaging Het
Cit C A 5: 116,090,602 (GRCm39) T932K probably benign Het
Col19a1 A C 1: 24,598,721 (GRCm39) probably null Het
Dapk3 A G 10: 81,028,294 (GRCm39) E288G probably damaging Het
Ddx60 T C 8: 62,437,192 (GRCm39) F1002S probably damaging Het
Dgke G T 11: 88,941,220 (GRCm39) T321K probably benign Het
Ebf2 T G 14: 67,551,043 (GRCm39) probably benign Het
Enpp7 A G 11: 118,881,788 (GRCm39) D311G probably benign Het
Epm2a A G 10: 11,324,493 (GRCm39) E194G probably damaging Het
Esyt2 T C 12: 116,282,446 (GRCm39) F132S probably damaging Het
Gm5455 T C 13: 110,441,494 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,080,623 (GRCm39) V202E probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mark1 A T 1: 184,660,288 (GRCm39) F123I probably damaging Het
Nectin4 T A 1: 171,212,825 (GRCm39) probably null Het
Obscn T A 11: 58,934,971 (GRCm39) T5220S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2l13 A C 16: 19,305,680 (GRCm39) I31L probably benign Het
Or2p2 T A 13: 21,256,739 (GRCm39) H244L probably damaging Het
Pdcd1 A T 1: 93,980,175 (GRCm39) V14E probably damaging Het
Pmel A G 10: 128,554,853 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,362 (GRCm39) I454F possibly damaging Het
Prrx1 C T 1: 163,089,542 (GRCm39) R95Q probably damaging Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Ptprq A G 10: 107,498,425 (GRCm39) I884T probably damaging Het
Rad17 G A 13: 100,770,399 (GRCm39) T216I possibly damaging Het
Rif1 T C 2: 51,967,032 (GRCm39) I107T probably benign Het
Rpp14 T C 14: 8,087,513 (GRCm38) L69P probably damaging Het
Rtel1 G T 2: 180,988,776 (GRCm39) probably benign Het
Sap130 C T 18: 31,799,756 (GRCm39) T362M probably damaging Het
Scn11a A G 9: 119,644,268 (GRCm39) probably null Het
Sec31a G T 5: 100,530,754 (GRCm39) T243N probably benign Het
Slc5a9 T A 4: 111,755,808 (GRCm39) H30L possibly damaging Het
Slco6b1 T A 1: 96,925,216 (GRCm39) noncoding transcript Het
Smarca4 A G 9: 21,567,002 (GRCm39) D694G probably benign Het
Spaca6 A G 17: 18,058,367 (GRCm39) T213A probably benign Het
Tagap C A 17: 8,152,473 (GRCm39) Q553K possibly damaging Het
Tagap A T 17: 8,152,474 (GRCm39) Q553L possibly damaging Het
Tcf7l2 A G 19: 55,887,044 (GRCm39) Q19R probably benign Het
Ttn A G 2: 76,709,197 (GRCm39) probably benign Het
Ubr7 A T 12: 102,741,964 (GRCm39) R399S probably benign Het
Uspl1 C A 5: 149,150,911 (GRCm39) Q690K possibly damaging Het
Vps8 T A 16: 21,400,298 (GRCm39) Y853* probably null Het
Vrk3 A T 7: 44,409,220 (GRCm39) Q129L possibly damaging Het
Wapl T A 14: 34,458,642 (GRCm39) C901* 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
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'- AGTGTTTTACTGCTTATGATCTTGCTA -3'
(R):5'- GAGCTGATATCTCACAAGCATATTTT -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GTGCACGTACCTTTGGAA -3'
Posted On 2016-07-22