Incidental Mutation 'R9498:Esco2'
ID 717388
Institutional Source Beutler Lab
Gene Symbol Esco2
Ensembl Gene ENSMUSG00000022034
Gene Name establishment of sister chromatid cohesion N-acetyltransferase 2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9498 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 65819038-65833994 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65831303 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 186 (D186G)
Ref Sequence ENSEMBL: ENSMUSP00000022613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022613] [ENSMUST00000225853]
AlphaFold Q8CIB9
Predicted Effect probably benign
Transcript: ENSMUST00000022613
AA Change: D186G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034
AA Change: D186G

DomainStartEndE-ValueType
low complexity region 139 156 N/A INTRINSIC
low complexity region 229 243 N/A INTRINSIC
Pfam:zf-C2H2_3 371 410 1.6e-18 PFAM
Pfam:Acetyltransf_13 520 588 2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225853
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation associated with impaired chromosome cohesion and abnormal mitosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 29,247,623 probably benign Het
Aadacl3 A G 4: 144,456,419 Y160H probably damaging Het
Abca17 T C 17: 24,265,506 Y1594C probably damaging Het
Abca8a T C 11: 110,086,548 I128M probably damaging Het
Abhd12b A G 12: 70,163,463 I138V probably benign Het
Adcy8 G A 15: 64,920,196 L304F possibly damaging Het
Alb T C 5: 90,469,503 F354L probably damaging Het
Ampd3 T A 7: 110,809,846 S688R probably damaging Het
Areg T G 5: 91,146,694 L237R probably damaging Het
Arhgef11 A G 3: 87,733,177 S1243G probably benign Het
B3glct A G 5: 149,750,429 probably null Het
BC030867 T C 11: 102,259,341 S410P probably benign Het
Casp7 T A 19: 56,436,335 L162Q probably damaging Het
Cdh22 G T 2: 165,112,570 T677N probably damaging Het
Cdh7 A G 1: 110,048,905 N100S probably benign Het
Cmtm5 T A 14: 54,936,748 S31T probably benign Het
Col6a3 T A 1: 90,785,928 R2295* probably null Het
Cpa6 T C 1: 10,409,321 N229S possibly damaging Het
Dagla G T 19: 10,254,854 Y489* probably null Het
Dnah7b A G 1: 46,214,404 K1823R probably benign Het
Dnah9 T C 11: 65,848,373 N4180D probably damaging Het
Dsg3 A C 18: 20,525,221 E296D probably damaging Het
Ednra A T 8: 77,720,305 L48Q probably benign Het
Foxj2 A G 6: 122,842,833 D560G probably damaging Het
Frmd3 G A 4: 74,119,818 M105I probably benign Het
Gm21671 AACT A 5: 25,950,851 probably benign Het
Gria4 A T 9: 4,503,560 probably null Het
Ifi204 T C 1: 173,755,971 E227G possibly damaging Het
Lgalsl T A 11: 20,829,439 I69F possibly damaging Het
Myo15b A G 11: 115,879,958 T1588A Het
Myo9a A G 9: 59,827,183 S683G probably damaging Het
Ncam2 T C 16: 81,512,999 I459T probably benign Het
Nedd4l T C 18: 65,161,652 probably null Het
Nfic T C 10: 81,420,668 E54G probably damaging Het
Nrxn1 T C 17: 90,589,969 T920A probably damaging Het
Obsl1 C T 1: 75,490,840 C1430Y probably damaging Het
Olfr1048 A G 2: 86,236,494 F107L probably damaging Het
Pcbp2 G A 15: 102,498,506 G357D probably benign Het
Pcdhb1 A G 18: 37,265,463 S156G probably damaging Het
Pcdhb15 A T 18: 37,473,837 R41* probably null Het
Pde1b A T 15: 103,527,062 D448V probably benign Het
Pex7 G A 10: 19,887,113 R227* probably null Het
Pkp1 T A 1: 135,890,082 Y105F probably benign Het
Plbd1 T C 6: 136,612,246 T529A possibly damaging Het
Plxnc1 C G 10: 94,813,142 Q1258H possibly damaging Het
Prr36 T A 8: 4,213,291 T792S unknown Het
Rasgrf1 A T 9: 89,944,868 T177S probably benign Het
Rbm14 A G 19: 4,803,467 S296P probably benign Het
Rfx8 T C 1: 39,685,514 Y229C probably damaging Het
Rgs3 A T 4: 62,657,175 S600C probably damaging Het
Slc29a4 T A 5: 142,718,478 S296T probably benign Het
Srsf6 A G 2: 162,932,089 E68G probably benign Het
Svs1 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,988,018 probably benign Het
Syt13 A T 2: 92,951,404 N317Y possibly damaging Het
Tars2 A T 3: 95,740,241 L701Q probably damaging Het
Tbc1d16 A T 11: 119,157,855 V324E probably damaging Het
Tbc1d21 A G 9: 58,366,641 L84P probably damaging Het
Trappc6b A G 12: 59,050,341 M65T possibly damaging Het
Tubb1 A G 2: 174,457,610 N362D probably benign Het
Tubgcp5 C T 7: 55,813,485 T475M possibly damaging Het
Ugt2b37 T C 5: 87,254,385 K129R probably benign Het
Vmn2r55 A G 7: 12,670,885 V197A probably damaging Het
Wfdc3 G A 2: 164,743,077 L4F possibly damaging Het
Zfp141 T A 7: 42,476,346 Q234L probably benign Het
Zfp850 T C 7: 27,989,850 K311R possibly damaging Het
Other mutations in Esco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Esco2 APN 14 65826528 missense probably benign 0.00
IGL01613:Esco2 APN 14 65826595 missense possibly damaging 0.75
IGL02148:Esco2 APN 14 65826595 missense probably benign 0.00
IGL03039:Esco2 APN 14 65831418 missense probably damaging 0.97
PIT4508001:Esco2 UTSW 14 65831465 missense probably damaging 0.99
R0400:Esco2 UTSW 14 65831706 missense possibly damaging 0.73
R0894:Esco2 UTSW 14 65827277 missense probably benign 0.35
R1778:Esco2 UTSW 14 65831262 missense possibly damaging 0.47
R1795:Esco2 UTSW 14 65827277 missense probably benign 0.35
R1962:Esco2 UTSW 14 65831533 missense probably damaging 1.00
R2325:Esco2 UTSW 14 65826578 splice site probably null
R2357:Esco2 UTSW 14 65826551 missense probably benign 0.32
R2369:Esco2 UTSW 14 65821740 missense probably damaging 1.00
R4659:Esco2 UTSW 14 65826586 missense possibly damaging 0.92
R5648:Esco2 UTSW 14 65831192 missense probably damaging 1.00
R5873:Esco2 UTSW 14 65824191 missense probably benign 0.00
R6782:Esco2 UTSW 14 65820016 missense probably benign 0.00
R6877:Esco2 UTSW 14 65831045 missense probably benign 0.01
R7116:Esco2 UTSW 14 65826557 missense probably damaging 1.00
R7572:Esco2 UTSW 14 65831192 missense probably damaging 0.97
R7645:Esco2 UTSW 14 65827181 missense probably benign 0.08
R8055:Esco2 UTSW 14 65831719 missense probably benign 0.20
R8072:Esco2 UTSW 14 65832681 missense probably benign
R8483:Esco2 UTSW 14 65831669 missense probably benign 0.00
R9244:Esco2 UTSW 14 65821639 missense probably damaging 1.00
R9478:Esco2 UTSW 14 65831208 nonsense probably null
R9728:Esco2 UTSW 14 65831620 missense probably benign
Z1177:Esco2 UTSW 14 65824936 critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ATTTGCTTTGCCTCTGGAGC -3'
(R):5'- GGAGATAAACCTATTCCCAGTGTGAC -3'

Sequencing Primer
(F):5'- AGCACCTTCAGGGACTTCTG -3'
(R):5'- CCCAGTGTGACAGAAAATATTCAG -3'
Posted On 2022-07-18