Incidental Mutation 'R5648:Esco2'
ID 441287
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 043169-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5648 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 66056476-66071418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66068641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 223 (V223D)
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: V223D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034
AA Change: V223D

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 noncoding transcript
Transcript: ENSMUST00000131729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224162
Predicted Effect probably benign
Transcript: ENSMUST00000225853
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,326,510 (GRCm39) probably null Het
Alpk2 A G 18: 65,482,988 (GRCm39) V340A probably damaging Het
Cald1 G T 6: 34,739,267 (GRCm39) probably null Het
Col24a1 C T 3: 145,064,321 (GRCm39) T702I probably benign Het
Ddx50 T C 10: 62,452,049 (GRCm39) R725G unknown Het
Dnah9 A T 11: 65,818,581 (GRCm39) F68L probably benign Het
Dnmt3b G A 2: 153,519,118 (GRCm39) V651M probably damaging Het
Dock1 G A 7: 134,348,683 (GRCm39) C299Y probably damaging Het
Epha4 T C 1: 77,375,162 (GRCm39) I562V probably benign Het
Ggt6 T C 11: 72,326,542 (GRCm39) I33T possibly damaging Het
Gm10392 A T 11: 77,408,306 (GRCm39) D104E probably benign Het
Gm9847 A G 12: 14,545,130 (GRCm39) noncoding transcript Het
Gnao1 A T 8: 94,676,070 (GRCm39) Y116F probably damaging Het
Gvin1 A T 7: 105,762,606 (GRCm39) I621K possibly damaging Het
Hyal6 T C 6: 24,734,235 (GRCm39) M56T possibly damaging Het
Hyou1 T A 9: 44,296,546 (GRCm39) D490E probably damaging Het
Igsf10 G C 3: 59,235,574 (GRCm39) Q1536E probably benign Het
Klk1b8 T C 7: 43,448,068 (GRCm39) S31P possibly damaging Het
Map3k6 A C 4: 132,970,646 (GRCm39) I178L probably benign Het
Mycbp2 T A 14: 103,528,778 (GRCm39) N427Y probably damaging Het
Ncr1 T A 7: 4,347,519 (GRCm39) I228N probably damaging Het
Nefh A T 11: 4,895,233 (GRCm39) Y319N probably damaging Het
Or4a80 A C 2: 89,582,417 (GRCm39) C252G probably damaging Het
Pakap T C 4: 57,854,848 (GRCm39) V120A probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pkhd1 T A 1: 20,628,850 (GRCm39) Y699F probably benign Het
Plekhd1 T C 12: 80,767,362 (GRCm39) L250P probably damaging Het
Reln A G 5: 22,203,570 (GRCm39) V1228A probably benign Het
Rhobtb2 G T 14: 70,034,593 (GRCm39) R211S probably damaging Het
Rps6kb1 T C 11: 86,403,697 (GRCm39) I305V possibly damaging Het
Slc12a2 G A 18: 58,029,382 (GRCm39) G256E possibly damaging Het
Slc4a1ap A G 5: 31,708,129 (GRCm39) probably null Het
Thoc1 A G 18: 9,962,390 (GRCm39) T92A possibly damaging Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tmem117 T G 15: 94,992,653 (GRCm39) S438A possibly damaging Het
Ttll7 A G 3: 146,667,465 (GRCm39) N777S probably damaging Het
Ubd T A 17: 37,506,345 (GRCm39) V77E probably damaging Het
Ubqln3 A G 7: 103,790,117 (GRCm39) S658P probably damaging Het
Vmn1r78 G A 7: 11,886,693 (GRCm39) M101I possibly damaging Het
Wdr93 T C 7: 79,426,974 (GRCm39) C638R probably benign Het
Zfp983 T A 17: 21,877,947 (GRCm39) V50D probably damaging Het
Zhx3 A T 2: 160,623,881 (GRCm39) H95Q probably damaging 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
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
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'- TCGCCAGCTGTTCTTAAATGATAC -3'
(R):5'- TCAGAGAAAACCAGTCTGTACC -3'

Sequencing Primer
(F):5'- TTAGCTTTACCTTTCTCAGTTTCTC -3'
(R):5'- AGAGTTTAACTGCCAAATATCAACC -3'
Posted On 2016-11-08