Mutagenetix > Incidental Mutation

Incidental Mutation 'R9244:Esco2'

701171

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66056476-66071418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66059088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 530 (W530R)

Ref Sequence

ENSEMBL: ENSMUSP00000022613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022612] [ENSMUST00000022613]

AlphaFold

Q8CIB9

Predicted Effect

probably benign
Transcript: ENSMUST00000022612

SMART Domains

Protein: ENSMUSP00000022612
Gene: ENSMUSG00000022033

Domain	Start	End	E-Value	Type
Pfam:Pkinase	32	317	1.7e-40	PFAM
Pfam:Pkinase_Tyr	32	317	2.4e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000022613
AA Change: W530R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034
AA Change: W530R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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
Abca13	A	G	11: 9,241,577 (GRCm39)	I1147V	probably benign	Het
Adcy10	A	G	1: 165,370,679 (GRCm39)	T653A	probably benign	Het
App	A	G	16: 84,759,629 (GRCm39)	I656T	probably damaging	Het
Arnt	T	A	3: 95,397,879 (GRCm39)	I574N	possibly damaging	Het
Cdc42	T	C	4: 137,056,391 (GRCm39)	T75A	probably benign	Het
Cdh23	C	A	10: 60,249,442 (GRCm39)	K822N	possibly damaging	Het
Chrnb3	T	A	8: 27,884,594 (GRCm39)	L444I	unknown	Het
Ctnnbl1	G	T	2: 157,678,583 (GRCm39)	K395N	possibly damaging	Het
Dmxl1	T	A	18: 50,026,316 (GRCm39)	I1808K	probably benign	Het
Dnajb8	C	A	6: 88,199,884 (GRCm39)	P140Q	probably damaging	Het
Dock5	G	A	14: 67,996,563 (GRCm39)	R1727W	probably damaging	Het
Dscam	G	A	16: 96,486,429 (GRCm39)	T1082I	possibly damaging	Het
Eaf1	T	C	14: 31,219,766 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,460,700 (GRCm39)	Y207C	probably damaging	Het
Enpp3	T	C	10: 24,654,689 (GRCm39)	D663G	probably damaging	Het
Epha5	A	G	5: 84,265,441 (GRCm39)	V451A	probably benign	Het
Erap1	G	A	13: 74,821,903 (GRCm39)		probably null	Het
Fhip1b	A	G	7: 105,038,870 (GRCm39)	V123A	possibly damaging	Het
Fhod3	T	C	18: 25,248,922 (GRCm39)	I1367T	probably damaging	Het
Fryl	T	C	5: 73,348,862 (GRCm39)		probably benign	Het
Get1	A	G	16: 95,955,383 (GRCm39)	T147A	probably benign	Het
Gm42669	A	G	5: 107,656,370 (GRCm39)	T295A	possibly damaging	Het
Harbi1	A	G	2: 91,543,040 (GRCm39)	N167S	probably damaging	Het
Hfm1	A	C	5: 107,022,766 (GRCm39)	N945K	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Htr1f	G	T	16: 64,746,857 (GRCm39)	T145K	probably benign	Het
Igf2bp2	A	C	16: 21,886,901 (GRCm39)	S453A	possibly damaging	Het
Ipo4	A	T	14: 55,871,799 (GRCm39)	W116R	probably damaging	Het
Jak1	T	C	4: 101,015,040 (GRCm39)	H917R	probably benign	Het
Klrb1b	A	T	6: 128,792,245 (GRCm39)	C189*	probably null	Het
Lrrn2	A	G	1: 132,865,058 (GRCm39)	Y41C	probably damaging	Het
Lrrn2	T	C	1: 132,865,237 (GRCm39)	S101P	probably damaging	Het
Mcmdc2	C	T	1: 9,985,835 (GRCm39)	T127I	probably damaging	Het
Mtch1	C	A	17: 29,566,626 (GRCm39)	A46S	unknown	Het
Ndufb5	C	A	3: 32,795,906 (GRCm39)	Q33K	probably null	Het
Nufip2	T	C	11: 77,583,475 (GRCm39)	V463A	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2r3	T	A	6: 42,448,537 (GRCm39)	I192F	possibly damaging	Het
Or5p62	A	G	7: 107,771,852 (GRCm39)	I33T	probably benign	Het
Or6d12	G	A	6: 116,492,782 (GRCm39)	V15I	probably benign	Het
Or8j3c	A	T	2: 86,253,423 (GRCm39)	V199E	probably damaging	Het
Pira13	T	C	7: 3,825,226 (GRCm39)	D472G	unknown	Het
Ppip5k1	A	C	2: 121,164,932 (GRCm39)	S972A	probably benign	Het
Prl8a2	A	T	13: 27,534,982 (GRCm39)	M86L	probably benign	Het
Prorsd1	T	C	11: 29,463,271 (GRCm39)	I164V	probably benign	Het
Ptgs1	A	G	2: 36,130,724 (GRCm39)	T208A	probably damaging	Het
Ptpn3	A	T	4: 57,254,915 (GRCm39)		probably null	Het
Reln	T	C	5: 22,120,151 (GRCm39)	R2834G	probably damaging	Het
Shc4	G	T	2: 125,497,589 (GRCm39)	Y373*	probably null	Het
Skor1	A	T	9: 63,049,524 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,658,249 (GRCm39)	S591P	probably damaging	Het
Stat2	A	G	10: 128,118,634 (GRCm39)	E389G	possibly damaging	Het
Trav14n-3	C	A	14: 53,608,004 (GRCm39)	D111E	probably damaging	Het
Unc5c	A	G	3: 141,533,370 (GRCm39)	S873G	probably benign	Het
Vmn1r210	T	C	13: 23,012,089 (GRCm39)	I66V	probably benign	Het
Vmn2r117	T	A	17: 23,696,589 (GRCm39)	I273F	probably damaging	Het
Vmn2r95	T	A	17: 18,672,189 (GRCm39)	M714K	possibly damaging	Het
Zfp235	A	G	7: 23,839,919 (GRCm39)	T113A	probably benign	Het
Zranb1	T	G	7: 132,585,640 (GRCm39)	L696R	probably damaging	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
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
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'- ACATCTGCCTTAGTCTGACTTTTACAG -3'
(R):5'- GAACCATCTTGCTGGACTATTG -3'

Sequencing Primer
(F):5'- TGAGCCAAGGAAGGTTCT -3'
(R):5'- GTAGGGGATCTAGTACCTTCTCTAAC -3'

Posted On

2022-03-25