Incidental Mutation 'R8072:Esco2'
ID 620300
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 067507-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8072 (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 T at 66070130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 16 (N16K)
Ref Sequence ENSEMBL: ENSMUSP00000022613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022613] [ENSMUST00000022614] [ENSMUST00000225853]
AlphaFold Q8CIB9
Predicted Effect probably benign
Transcript: ENSMUST00000022613
AA Change: N16K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034
AA Change: N16K

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: ENSMUST00000022614
SMART Domains Protein: ENSMUSP00000022614
Gene: ENSMUSG00000022035

DomainStartEndE-ValueType
Pfam:DUF814 8 100 2.2e-31 PFAM
coiled coil region 151 186 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000225853
AA Change: N16K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,244,574 (GRCm39) S2146P probably benign Het
Acad9 G A 3: 36,129,404 (GRCm39) V160I probably benign Het
Ace T C 11: 105,863,785 (GRCm39) V411A probably damaging Het
Ankrd66 T C 17: 43,854,526 (GRCm39) E2G possibly damaging Het
Apol6 A T 15: 76,935,303 (GRCm39) T191S probably benign Het
Arhgef17 T A 7: 100,531,004 (GRCm39) T352S probably benign Het
Atad2 C T 15: 57,963,374 (GRCm39) R1081Q possibly damaging Het
Atg3 G T 16: 45,008,048 (GRCm39) V297F probably damaging Het
Atp9b A C 18: 80,808,276 (GRCm39) S663A Het
Col10a1 G T 10: 34,266,663 (GRCm39) V16F unknown Het
Col3a1 G A 1: 45,360,734 (GRCm39) V55I unknown Het
Ctns T C 11: 73,082,572 (GRCm39) T53A probably benign Het
Cyp2b23 A T 7: 26,365,431 (GRCm39) I468N probably damaging Het
Dcbld2 G A 16: 58,283,460 (GRCm39) W565* probably null Het
Fggy A G 4: 95,732,394 (GRCm39) N462D possibly damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,153,722 (GRCm39) probably benign Het
Gm4846 T C 1: 166,322,241 (GRCm39) T109A probably benign Het
H2-M11 G T 17: 36,859,026 (GRCm39) V189L probably benign Het
Hmcn1 T A 1: 150,532,256 (GRCm39) T3175S possibly damaging Het
Hook2 G A 8: 85,721,120 (GRCm39) V184M probably benign Het
Hspa4l A T 3: 40,741,178 (GRCm39) D730V probably damaging Het
Igkv4-68 C T 6: 69,282,113 (GRCm39) M19I probably benign Het
Igsf9b C A 9: 27,228,660 (GRCm39) T140N possibly damaging Het
Kcnj1 G A 9: 32,308,593 (GRCm39) R339Q probably damaging Het
Lcn8 T G 2: 25,545,184 (GRCm39) L118W probably damaging Het
Lin28a A G 4: 133,745,453 (GRCm39) F47L possibly damaging Het
Loxl4 T C 19: 42,596,021 (GRCm39) E144G probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrgprb1 C A 7: 48,097,895 (GRCm39) E6* probably null Het
Mthfsd A C 8: 121,825,555 (GRCm39) Y339D probably damaging Het
Mup11 A T 4: 60,615,777 (GRCm39) F153L probably damaging Het
Pcdhac2 G A 18: 37,278,717 (GRCm39) V566M probably benign Het
Plpp7 G T 2: 31,986,121 (GRCm39) A100S probably benign Het
Prg4 T C 1: 150,331,774 (GRCm39) T300A possibly damaging Het
Ptprd A G 4: 76,004,273 (GRCm39) F161L probably benign Het
Pwp2 G A 10: 78,007,930 (GRCm39) A875V possibly damaging Het
Rhd A G 4: 134,611,460 (GRCm39) T207A possibly damaging Het
Sh2d3c C T 2: 32,643,150 (GRCm39) R778C probably damaging Het
Slc34a3 A C 2: 25,119,289 (GRCm39) V527G probably benign Het
Smad2 T C 18: 76,420,022 (GRCm39) probably null Het
Sp110 GTACT GTACTACT 1: 85,515,207 (GRCm39) probably benign Het
Spata21 C T 4: 140,839,317 (GRCm39) Q611* probably null Het
Taf4b A G 18: 14,954,585 (GRCm39) T554A probably benign Het
Tial1 T C 7: 128,044,194 (GRCm39) T107A unknown Het
Ubxn6 C A 17: 56,380,195 (GRCm39) R42L probably benign Het
Vmn2r90 A T 17: 17,947,142 (GRCm39) N473I probably damaging Het
Ythdc1 T A 5: 86,969,133 (GRCm39) Y351* 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
R7116:Esco2 UTSW 14 66,064,006 (GRCm39) missense probably damaging 1.00
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
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'- ATTAGCTTGAGGCCAACCAG -3'
(R):5'- CCCTTGGGTATTTATTTGCAGTCAC -3'

Sequencing Primer
(F):5'- ACAAATCACCAAAGGGCTGG -3'
(R):5'- ACTGACATATTTGCTGCC -3'
Posted On 2020-01-23