Mutagenetix > Incidental Mutation

Incidental Mutation 'R8055:Esco2'

619338

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

067492-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66056476-66071418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66069168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 47 (N47K)

Ref Sequence

ENSEMBL: ENSMUSP00000022613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022613] [ENSMUST00000225853]

AlphaFold

Q8CIB9

Predicted Effect

probably benign
Transcript: ENSMUST00000022613
AA Change: N47K

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034
AA Change: N47K

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: 100.0%
10x: 99.7%
20x: 99.2%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1b	C	A	3: 92,336,139 (GRCm39)	G188W	unknown	Het
Ahcyl1	A	T	3: 107,576,047 (GRCm39)	D353E	probably benign	Het
Alk	G	T	17: 72,206,252 (GRCm39)	P1033T	probably benign	Het
Asb15	G	T	6: 24,556,565 (GRCm39)	C20F	probably benign	Het
BC049715	A	G	6: 136,816,913 (GRCm39)	N51S	possibly damaging	Het
Ccser1	G	A	6: 61,290,757 (GRCm39)	V480M	possibly damaging	Het
Cep295	T	C	9: 15,244,905 (GRCm39)	N1184D	probably benign	Het
Cers6	C	T	2: 68,777,625 (GRCm39)	R111W	probably damaging	Het
Clybl	T	A	14: 122,615,273 (GRCm39)	D204E	probably damaging	Het
Cxcl13	T	C	5: 96,107,763 (GRCm39)	V73A	probably benign	Het
Dchs2	A	G	3: 83,037,032 (GRCm39)	N593S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fmo4	T	C	1: 162,636,015 (GRCm39)	T46A	probably benign	Het
Gm15217	T	C	14: 46,616,911 (GRCm39)		probably benign	Het
Gnb5	G	T	9: 75,250,826 (GRCm39)	A317S	probably benign	Het
Klf14	A	G	6: 30,934,722 (GRCm39)	V304A	probably benign	Het
Klrc2	A	T	6: 129,633,424 (GRCm39)	C209*	probably null	Het
Kmt2a	A	T	9: 44,732,378 (GRCm39)	N2646K	unknown	Het
Krt14	C	G	11: 100,095,584 (GRCm39)	V274L	possibly damaging	Het
Myo16	A	T	8: 10,612,186 (GRCm39)	D1277V	unknown	Het
Myo9a	A	T	9: 59,814,743 (GRCm39)	E2226D	probably damaging	Het
Osbpl8	T	C	10: 111,120,255 (GRCm39)	V631A	possibly damaging	Het
Piezo2	G	A	18: 63,175,882 (GRCm39)	S1833L	probably damaging	Het
Pkp4	T	C	2: 59,138,359 (GRCm39)	V203A	probably benign	Het
Primpol	T	C	8: 47,032,197 (GRCm39)	D459G	probably benign	Het
Prkdc	G	T	16: 15,634,749 (GRCm39)	R3631S	probably benign	Het
Rbbp8nl	T	C	2: 179,920,001 (GRCm39)	T558A	probably benign	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rdx	G	A	9: 51,997,724 (GRCm39)	R566Q	probably damaging	Het
Rhbdf2	A	C	11: 116,498,191 (GRCm39)	S3A	probably benign	Het
Rpap1	A	T	2: 119,595,284 (GRCm39)	I1319N	probably benign	Het
Sbno2	T	A	10: 79,905,265 (GRCm39)	I206F	possibly damaging	Het
Scn1a	A	G	2: 66,149,845 (GRCm39)	V944A	probably damaging	Het
Scube1	C	T	15: 83,543,226 (GRCm39)		probably null	Het
Slc22a20	G	A	19: 6,021,439 (GRCm39)	A521V	probably benign	Het
Slc6a4	C	A	11: 76,901,424 (GRCm39)	T53K	probably benign	Het
Snapc2	G	A	8: 4,304,322 (GRCm39)	R75Q	probably damaging	Het
Sptan1	A	T	2: 29,884,351 (GRCm39)	K662I	probably benign	Het
Sycp3	T	C	10: 88,298,438 (GRCm39)	S55P	probably damaging	Het
Tet2	A	T	3: 133,173,753 (GRCm39)	V1503D	possibly damaging	Het
Tfrc	T	A	16: 32,437,474 (GRCm39)	N277K	probably benign	Het
Tlx3	A	T	11: 33,151,283 (GRCm39)	V291E	probably damaging	Het
Tnk1	A	T	11: 69,747,327 (GRCm39)	H101Q	probably benign	Het
Tns3	A	T	11: 8,495,343 (GRCm39)	D70E	probably damaging	Het
Trip11	C	A	12: 101,803,924 (GRCm39)	G1938C	probably damaging	Het
Tubg1	T	C	11: 101,014,828 (GRCm39)	L190P	probably damaging	Het
Vmn2r79	A	T	7: 86,686,541 (GRCm39)	S641C	possibly damaging	Het
Wnt8b	A	G	19: 44,481,952 (GRCm39)		probably benign	Het

Other mutations in Esco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ATCAACTTCCTCTCGAGTGGATTG -3'
(R):5'- ATAATGTGTCAAACAATGGCGG -3'

Sequencing Primer
(F):5'- CCTCTCGAGTGGATTGAGGTAG -3'
(R):5'- TCAAACAATGGCGGGGGATG -3'

Posted On

2020-01-23