Incidental Mutation 'IGL01613:Esco2'
ID 92251
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esco2
Ensembl Gene ENSMUSG00000022034
Gene Name establishment of sister chromatid cohesion N-acetyltransferase 2
Synonyms 2410004I17Rik, D030072L07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01613
Quality Score
Chromosome 14
Chromosomal Location 66056476-66071418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 66064044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 380 (H380P)
Ref Sequence ENSEMBL: ENSMUSP00000022613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022613] [ENSMUST00000225853]
AlphaFold Q8CIB9
Predicted Effect possibly damaging
Transcript: ENSMUST00000022613
AA Change: H380P

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034
AA Change: H380P

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,589,716 (GRCm39) M446R possibly damaging Het
Abca16 A G 7: 120,140,500 (GRCm39) N1599S probably benign Het
Ankib1 G A 5: 3,763,146 (GRCm39) Q528* probably null Het
Ano10 A T 9: 122,088,606 (GRCm39) L347M possibly damaging Het
Bag6 T C 17: 35,361,992 (GRCm39) probably benign Het
Bpnt1 T C 1: 185,086,191 (GRCm39) V182A possibly damaging Het
Capn13 G T 17: 73,638,053 (GRCm39) T450N probably benign Het
Cbr3 A T 16: 93,480,331 (GRCm39) E40V probably benign Het
Cdk10 T C 8: 123,955,126 (GRCm39) I159T probably damaging Het
Cela3b T C 4: 137,152,382 (GRCm39) D65G possibly damaging Het
Csf2rb T G 15: 78,219,502 (GRCm39) probably benign Het
Cyp2b19 C T 7: 26,462,886 (GRCm39) T256I possibly damaging Het
Dpp9 T C 17: 56,497,713 (GRCm39) H687R probably benign Het
Elovl1 T C 4: 118,288,467 (GRCm39) V108A probably benign Het
Emb T A 13: 117,408,614 (GRCm39) N318K probably damaging Het
Ermp1 A G 19: 29,617,339 (GRCm39) L36P probably damaging Het
Gm9747 G A 1: 82,211,809 (GRCm39) probably benign Het
Golga1 A G 2: 38,910,138 (GRCm39) M603T probably benign Het
Hsph1 A G 5: 149,550,743 (GRCm39) V411A probably benign Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Ints11 T C 4: 155,969,655 (GRCm39) probably null Het
Jakmip1 G T 5: 37,258,112 (GRCm39) A253S probably damaging Het
Met A G 6: 17,540,576 (GRCm39) Y834C probably damaging Het
Mgl2 A G 11: 70,024,984 (GRCm39) T2A probably benign Het
Myh2 G T 11: 67,088,170 (GRCm39) V1929L probably benign Het
Myh8 T C 11: 67,192,536 (GRCm39) S1472P probably benign Het
Myo1e T C 9: 70,248,555 (GRCm39) probably benign Het
Ndufaf7 A G 17: 79,244,931 (GRCm39) I17V probably benign Het
Or4a47 T C 2: 89,666,152 (GRCm39) T46A probably damaging Het
Or5ak22 C T 2: 85,230,515 (GRCm39) D121N probably damaging Het
Or5h25 A T 16: 58,930,284 (GRCm39) S230T probably damaging Het
Or6c6c A G 10: 129,541,492 (GRCm39) I248M probably benign Het
Or7g18 T A 9: 18,786,617 (GRCm39) probably benign Het
Or8b50 A G 9: 38,517,850 (GRCm39) I30V probably null Het
Or8k1 T G 2: 86,047,505 (GRCm39) D183A probably damaging Het
Ppef2 T C 5: 92,383,679 (GRCm39) E477G probably benign Het
Scmh1 T A 4: 120,387,097 (GRCm39) probably benign Het
Scn1a C A 2: 66,116,281 (GRCm39) D1473Y probably damaging Het
Sdr42e1 C T 8: 118,389,676 (GRCm39) V322I probably benign Het
Slco1a7 G T 6: 141,658,940 (GRCm39) T552K possibly damaging Het
Spta1 G A 1: 174,035,960 (GRCm39) A1089T probably damaging Het
Sufu T C 19: 46,464,059 (GRCm39) Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 (GRCm39) F108L possibly damaging Het
Ttn T C 2: 76,805,308 (GRCm39) N177S probably benign Het
Tyk2 T C 9: 21,031,872 (GRCm39) D401G probably damaging Het
Vav1 T C 17: 57,614,067 (GRCm39) F650L possibly damaging Het
Wdr12 T C 1: 60,119,718 (GRCm39) H385R probably damaging Het
Xab2 T C 8: 3,660,880 (GRCm39) M745V probably benign Het
Other mutations in Esco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01569:Esco2 APN 14 66,063,977 (GRCm39) missense probably benign 0.00
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
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
Posted On 2013-12-09