Incidental Mutation 'R7116:Esco2'
ID 551797
Institutional Source Beutler Lab
Gene Symbol Esco2
Ensembl Gene ENSMUSG00000022034
Gene Name establishment of sister chromatid cohesion N-acetyltransferase 2
Synonyms 2410004I17Rik, D030072L07Rik
MMRRC Submission 045207-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7116 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 66056476-66071418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66064006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 393 (Y393H)
Ref Sequence ENSEMBL: ENSMUSP00000022613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022613] [ENSMUST00000225853]
AlphaFold Q8CIB9
Predicted Effect probably damaging
Transcript: ENSMUST00000022613
AA Change: Y393H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034
AA Change: Y393H

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: 99.6%
  • 20x: 98.8%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,251,751 (GRCm39) S109P probably damaging Het
Afg3l1 T G 8: 124,216,601 (GRCm39) L280R probably damaging Het
Akap13 T A 7: 75,369,943 (GRCm39) S129T probably benign Het
Ankrd11 A G 8: 123,622,869 (GRCm39) S328P probably damaging Het
Aox3 A T 1: 58,192,689 (GRCm39) E554D probably benign Het
Bcl11a T C 11: 24,113,839 (GRCm39) V394A probably damaging Het
Cass4 A G 2: 172,269,889 (GRCm39) Y657C unknown Het
Ccdc88a C T 11: 29,454,051 (GRCm39) A1738V probably benign Het
Cfap74 T C 4: 155,539,518 (GRCm39) F948L unknown Het
Chgb A T 2: 132,623,237 (GRCm39) probably benign Het
Coro1c C T 5: 113,990,267 (GRCm39) W138* probably null Het
Dgkb A G 12: 38,031,989 (GRCm39) Q17R probably benign Het
Eya3 T A 4: 132,422,110 (GRCm39) D228E probably benign Het
Fat2 T C 11: 55,173,162 (GRCm39) D2517G probably damaging Het
Fry T A 5: 150,319,334 (GRCm39) probably null Het
Gal3st2b A T 1: 93,868,498 (GRCm39) Q243L possibly damaging Het
Gimap9 C T 6: 48,654,989 (GRCm39) A192V probably benign Het
Glg1 T A 8: 111,905,589 (GRCm39) Q564L probably benign Het
H2-Aa A T 17: 34,502,601 (GRCm39) Y188* probably null Het
Hira T C 16: 18,730,864 (GRCm39) Y188H probably damaging Het
Ighv8-8 C T 12: 115,257,814 (GRCm39) D76N probably benign Het
Irf6 T C 1: 192,849,905 (GRCm39) F276L probably damaging Het
Itpr1 T C 6: 108,458,229 (GRCm39) C2000R probably damaging Het
Jakmip3 T C 7: 138,621,979 (GRCm39) V293A possibly damaging Het
Kcnh7 A G 2: 62,707,614 (GRCm39) V132A probably benign Het
Kcnj1 A G 9: 32,308,277 (GRCm39) T234A possibly damaging Het
Kpna3 T A 14: 61,605,635 (GRCm39) N470I probably benign Het
Lamb2 T C 9: 108,364,522 (GRCm39) F1121L probably damaging Het
Lingo1 T C 9: 56,527,911 (GRCm39) D232G probably benign Het
Lpxn T A 19: 12,788,622 (GRCm39) N70K probably benign Het
Ltbp4 T A 7: 27,004,852 (GRCm39) H1657L probably damaging Het
Luzp2 C A 7: 54,915,078 (GRCm39) F334L possibly damaging Het
Mgat5b A T 11: 116,835,785 (GRCm39) S142C possibly damaging Het
Mroh7 G A 4: 106,568,517 (GRCm39) T396I probably benign Het
Muc5b T C 7: 141,417,487 (GRCm39) S3478P probably benign Het
Nfatc2 A T 2: 168,349,269 (GRCm39) M626K probably benign Het
Nlrp14 A G 7: 106,782,255 (GRCm39) D484G possibly damaging Het
Npc1 T C 18: 12,344,601 (GRCm39) Y423C probably damaging Het
Nrsn1 A G 13: 25,437,388 (GRCm39) I180T probably damaging Het
Or11g25 A T 14: 50,723,025 (GRCm39) I37F probably benign Het
Or51a8 T A 7: 102,549,842 (GRCm39) N89K probably benign Het
Osbpl6 A T 2: 76,426,225 (GRCm39) I935F probably benign Het
Otog T C 7: 45,947,689 (GRCm39) F96L probably damaging Het
Pde1b T C 15: 103,436,745 (GRCm39) L534P possibly damaging Het
Pdzd8 C T 19: 59,288,125 (GRCm39) E1092K probably damaging Het
Pfkl T C 10: 77,837,249 (GRCm39) H108R probably benign Het
Pkhd1l1 G A 15: 44,421,372 (GRCm39) V3047I probably benign Het
Plag1 A T 4: 3,904,812 (GRCm39) C126* probably null Het
Pphln1 T A 15: 93,353,406 (GRCm39) S229T probably benign Het
Pramel5 C T 4: 144,000,451 (GRCm39) D42N possibly damaging Het
Psd3 A G 8: 68,166,390 (GRCm39) V915A probably benign Het
Ptdss1 T A 13: 67,093,391 (GRCm39) I77N probably benign Het
Rsbn1 T A 3: 103,821,892 (GRCm39) C3* probably null Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sv2c A T 13: 96,113,152 (GRCm39) V599E probably damaging Het
Vmn2r37 T C 7: 9,220,898 (GRCm39) T322A probably benign Het
Vmn2r60 T A 7: 41,786,487 (GRCm39) M430K probably benign Het
Wipf3 T A 6: 54,458,904 (GRCm39) probably null Het
Other mutations in Esco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Esco2 APN 14 66,063,977 (GRCm39) missense probably benign 0.00
IGL01613:Esco2 APN 14 66,064,044 (GRCm39) missense possibly damaging 0.75
IGL02148:Esco2 APN 14 66,064,044 (GRCm39) missense probably benign 0.00
IGL03039:Esco2 APN 14 66,068,867 (GRCm39) missense probably damaging 0.97
PIT4508001:Esco2 UTSW 14 66,068,914 (GRCm39) missense probably damaging 0.99
R0400:Esco2 UTSW 14 66,069,155 (GRCm39) missense possibly damaging 0.73
R0894:Esco2 UTSW 14 66,064,726 (GRCm39) missense probably benign 0.35
R1778:Esco2 UTSW 14 66,068,711 (GRCm39) missense possibly damaging 0.47
R1795:Esco2 UTSW 14 66,064,726 (GRCm39) missense probably benign 0.35
R1962:Esco2 UTSW 14 66,068,982 (GRCm39) missense probably damaging 1.00
R2325:Esco2 UTSW 14 66,064,027 (GRCm39) splice site probably null
R2357:Esco2 UTSW 14 66,064,000 (GRCm39) missense probably benign 0.32
R2369:Esco2 UTSW 14 66,059,189 (GRCm39) missense probably damaging 1.00
R4659:Esco2 UTSW 14 66,064,035 (GRCm39) missense possibly damaging 0.92
R5648:Esco2 UTSW 14 66,068,641 (GRCm39) missense probably damaging 1.00
R5873:Esco2 UTSW 14 66,061,640 (GRCm39) missense probably benign 0.00
R6782:Esco2 UTSW 14 66,057,465 (GRCm39) missense probably benign 0.00
R6877:Esco2 UTSW 14 66,068,494 (GRCm39) missense probably benign 0.01
R7572:Esco2 UTSW 14 66,068,641 (GRCm39) missense probably damaging 0.97
R7645:Esco2 UTSW 14 66,064,630 (GRCm39) missense probably benign 0.08
R8055:Esco2 UTSW 14 66,069,168 (GRCm39) missense probably benign 0.20
R8072:Esco2 UTSW 14 66,070,130 (GRCm39) missense probably benign
R8483:Esco2 UTSW 14 66,069,118 (GRCm39) missense probably benign 0.00
R9244:Esco2 UTSW 14 66,059,088 (GRCm39) missense probably damaging 1.00
R9478:Esco2 UTSW 14 66,068,657 (GRCm39) nonsense probably null
R9498:Esco2 UTSW 14 66,068,752 (GRCm39) missense probably benign 0.00
R9728:Esco2 UTSW 14 66,069,069 (GRCm39) missense probably benign
Z1177:Esco2 UTSW 14 66,062,385 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ATCTGGGGAAGCTAGCACTC -3'
(R):5'- GAAATGAGGCCTTGTCTGTTTC -3'

Sequencing Primer
(F):5'- TGGGGAAGCTAGCACTCTTACTC -3'
(R):5'- CTTGGTCTATTGTGTGAGCCC -3'
Posted On 2019-05-15