Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Esco2'

551797

Institutional Source

Beutler Lab

Gene Symbol

Esco2

Ensembl Gene

ENSMUSG00000022034

Gene Name

establishment of sister chromatid cohesion N-acetyltransferase 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65819038-65833994 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65826557 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	Het

Other mutations in Esco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01569:Esco2	APN	14	65826528	missense	probably benign	0.00
IGL01613:Esco2	APN	14	65826595	missense	possibly damaging	0.75
IGL02148:Esco2	APN	14	65826595	missense	probably benign	0.00
IGL03039:Esco2	APN	14	65831418	missense	probably damaging	0.97
PIT4508001:Esco2	UTSW	14	65831465	missense	probably damaging	0.99
R0400:Esco2	UTSW	14	65831706	missense	possibly damaging	0.73
R0894:Esco2	UTSW	14	65827277	missense	probably benign	0.35
R1778:Esco2	UTSW	14	65831262	missense	possibly damaging	0.47
R1795:Esco2	UTSW	14	65827277	missense	probably benign	0.35
R1962:Esco2	UTSW	14	65831533	missense	probably damaging	1.00
R2325:Esco2	UTSW	14	65826578	splice site	probably null
R2357:Esco2	UTSW	14	65826551	missense	probably benign	0.32
R2369:Esco2	UTSW	14	65821740	missense	probably damaging	1.00
R4659:Esco2	UTSW	14	65826586	missense	possibly damaging	0.92
R5648:Esco2	UTSW	14	65831192	missense	probably damaging	1.00
R5873:Esco2	UTSW	14	65824191	missense	probably benign	0.00
R6782:Esco2	UTSW	14	65820016	missense	probably benign	0.00
R6877:Esco2	UTSW	14	65831045	missense	probably benign	0.01
R7572:Esco2	UTSW	14	65831192	missense	probably damaging	0.97
R7645:Esco2	UTSW	14	65827181	missense	probably benign	0.08
R8055:Esco2	UTSW	14	65831719	missense	probably benign	0.20
R8072:Esco2	UTSW	14	65832681	missense	probably benign
R8483:Esco2	UTSW	14	65831669	missense	probably benign	0.00
R9244:Esco2	UTSW	14	65821639	missense	probably damaging	1.00
R9478:Esco2	UTSW	14	65831208	nonsense	probably null
R9498:Esco2	UTSW	14	65831303	missense	probably benign	0.00
R9728:Esco2	UTSW	14	65831620	missense	probably benign
Z1177:Esco2	UTSW	14	65824936	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