Incidental Mutation 'IGL03233:Esco1'
ID 413967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esco1
Ensembl Gene ENSMUSG00000024293
Gene Name establishment of sister chromatid cohesion N-acetyltransferase 1
Synonyms A930014I12Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.408) question?
Stock # IGL03233
Quality Score
Status
Chromosome 18
Chromosomal Location 10566507-10610352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10574877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 208 (W208R)
Ref Sequence ENSEMBL: ENSMUSP00000111530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025142] [ENSMUST00000097670] [ENSMUST00000115864]
AlphaFold Q69Z69
Predicted Effect possibly damaging
Transcript: ENSMUST00000025142
AA Change: W732R

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025142
Gene: ENSMUSG00000024293
AA Change: W732R

DomainStartEndE-ValueType
coiled coil region 8 32 N/A INTRINSIC
low complexity region 117 128 N/A INTRINSIC
low complexity region 322 338 N/A INTRINSIC
low complexity region 463 477 N/A INTRINSIC
Pfam:zf-C2H2_3 607 646 4.7e-17 PFAM
Pfam:Acetyltransf_13 766 834 1.3e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097670
AA Change: W233R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000095274
Gene: ENSMUSG00000024293
AA Change: W233R

DomainStartEndE-ValueType
Pfam:zf-C2H2_3 108 148 1.7e-19 PFAM
Pfam:Acetyltransf_13 266 335 4.6e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115864
AA Change: W208R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111530
Gene: ENSMUSG00000024293
AA Change: W208R

DomainStartEndE-ValueType
Pfam:zf-C2H2_3 83 123 1.8e-19 PFAM
Pfam:Acetyltransf_13 241 310 4.1e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145320
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,260,357 (GRCm39) F856S probably damaging Het
Ak7 A G 12: 105,727,739 (GRCm39) D457G probably damaging Het
Ankrd26 G T 6: 118,512,107 (GRCm39) probably null Het
Ano5 C A 7: 51,220,116 (GRCm39) P405T probably damaging Het
Asah2 T A 19: 32,032,031 (GRCm39) N46I probably benign Het
Atg4c A T 4: 99,117,740 (GRCm39) Y343F probably benign Het
Cab39 T A 1: 85,770,044 (GRCm39) M175K probably benign Het
Cadps2 T C 6: 23,263,600 (GRCm39) E1257G probably benign Het
Ces1d A G 8: 93,921,707 (GRCm39) Y19H probably benign Het
Cst6 T C 19: 5,399,289 (GRCm39) D25G probably damaging Het
Cyp4a30b A T 4: 115,316,167 (GRCm39) T298S probably benign Het
Dgkk T C X: 6,770,077 (GRCm39) L352P probably damaging Het
Dnai7 A T 6: 145,127,611 (GRCm39) Y433N probably damaging Het
Dync2h1 A C 9: 7,101,525 (GRCm39) F482V possibly damaging Het
Fbn2 T C 18: 58,235,449 (GRCm39) D676G probably benign Het
Foxp3 T C X: 7,453,662 (GRCm39) probably benign Het
Gpr108 T A 17: 57,552,042 (GRCm39) I123F probably benign Het
Gsdmc4 A T 15: 63,774,709 (GRCm39) V24E probably damaging Het
Jam3 C A 9: 27,013,217 (GRCm39) V118F probably damaging Het
Kif23 T A 9: 61,833,735 (GRCm39) I489F probably benign Het
Lama3 T A 18: 12,614,095 (GRCm39) V1288D probably damaging Het
Mark2 G T 19: 7,262,091 (GRCm39) H308N possibly damaging Het
Mms19 T C 19: 41,935,352 (GRCm39) probably null Het
Neb A T 2: 52,198,313 (GRCm39) I477N possibly damaging Het
Npm1 G T 11: 33,106,717 (GRCm39) Q204K probably benign Het
Nsun5 G A 5: 135,404,299 (GRCm39) V369M probably damaging Het
Or7a39 C A 10: 78,715,406 (GRCm39) Y133* probably null Het
Pcdhb13 T A 18: 37,577,318 (GRCm39) N565K probably damaging Het
Pla2r1 A G 2: 60,258,924 (GRCm39) F1155L possibly damaging Het
Pus10 T A 11: 23,662,241 (GRCm39) W304R probably damaging Het
Rab32 G A 10: 10,422,057 (GRCm39) Q221* probably null Het
Rlf A G 4: 121,039,797 (GRCm39) probably benign Het
Robo1 A T 16: 72,767,081 (GRCm39) I418F probably damaging Het
Slc44a2 T C 9: 21,259,918 (GRCm39) I642T possibly damaging Het
Ston2 T A 12: 91,614,627 (GRCm39) T594S probably damaging Het
Szt2 T C 4: 118,229,726 (GRCm39) T2802A unknown Het
Tshz3 T A 7: 36,469,504 (GRCm39) Y498N probably damaging Het
Zfp280b T A 10: 75,875,603 (GRCm39) I494N probably damaging Het
Zfp281 A G 1: 136,554,567 (GRCm39) Q515R possibly damaging Het
Other mutations in Esco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Esco1 APN 18 10,582,078 (GRCm39) missense probably damaging 1.00
IGL01376:Esco1 APN 18 10,594,892 (GRCm39) nonsense probably null
IGL01886:Esco1 APN 18 10,595,262 (GRCm39) missense probably damaging 1.00
IGL03171:Esco1 APN 18 10,594,263 (GRCm39) missense probably damaging 1.00
PIT4576001:Esco1 UTSW 18 10,572,093 (GRCm39) missense probably damaging 1.00
PIT4585001:Esco1 UTSW 18 10,594,355 (GRCm39) nonsense probably null
R0266:Esco1 UTSW 18 10,594,605 (GRCm39) missense probably benign 0.00
R0445:Esco1 UTSW 18 10,574,989 (GRCm39) missense probably damaging 1.00
R0494:Esco1 UTSW 18 10,594,940 (GRCm39) missense probably benign 0.28
R0965:Esco1 UTSW 18 10,567,570 (GRCm39) missense probably damaging 1.00
R1834:Esco1 UTSW 18 10,594,350 (GRCm39) missense probably damaging 1.00
R2140:Esco1 UTSW 18 10,574,873 (GRCm39) critical splice donor site probably null
R2141:Esco1 UTSW 18 10,574,873 (GRCm39) critical splice donor site probably null
R2142:Esco1 UTSW 18 10,574,873 (GRCm39) critical splice donor site probably null
R4562:Esco1 UTSW 18 10,595,074 (GRCm39) missense possibly damaging 0.74
R4668:Esco1 UTSW 18 10,594,734 (GRCm39) missense possibly damaging 0.60
R5083:Esco1 UTSW 18 10,594,734 (GRCm39) missense probably benign 0.00
R5128:Esco1 UTSW 18 10,567,468 (GRCm39) utr 3 prime probably benign
R5407:Esco1 UTSW 18 10,574,886 (GRCm39) missense probably damaging 1.00
R5454:Esco1 UTSW 18 10,584,327 (GRCm39) missense probably benign
R5870:Esco1 UTSW 18 10,593,744 (GRCm39) critical splice donor site probably null
R5965:Esco1 UTSW 18 10,593,867 (GRCm39) missense possibly damaging 0.94
R6360:Esco1 UTSW 18 10,574,931 (GRCm39) missense probably damaging 1.00
R6390:Esco1 UTSW 18 10,567,528 (GRCm39) missense probably damaging 1.00
R6438:Esco1 UTSW 18 10,572,031 (GRCm39) missense probably damaging 1.00
R6524:Esco1 UTSW 18 10,582,188 (GRCm39) critical splice acceptor site probably null
R6534:Esco1 UTSW 18 10,594,794 (GRCm39) missense possibly damaging 0.90
R6633:Esco1 UTSW 18 10,595,738 (GRCm39) intron probably benign
R8743:Esco1 UTSW 18 10,572,123 (GRCm39) missense probably damaging 1.00
R8877:Esco1 UTSW 18 10,575,017 (GRCm39) missense probably damaging 1.00
R9065:Esco1 UTSW 18 10,594,005 (GRCm39) missense probably benign 0.00
R9141:Esco1 UTSW 18 10,594,731 (GRCm39) missense possibly damaging 0.87
R9739:Esco1 UTSW 18 10,594,218 (GRCm39) missense probably benign 0.08
R9750:Esco1 UTSW 18 10,594,510 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02