Mutagenetix > Incidental Mutation

Incidental Mutation 'R7645:Esco2'

590497

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 #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65819038-65833994 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65827181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 370 (D370G)

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: D370G

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034
AA Change: D370G

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: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,256,255	C375S	probably benign	Het
Adgrg3	A	G	8: 95,034,764		probably benign	Het
Amn1	C	T	6: 149,185,031	M44I	probably benign	Het
Atg2b	T	C	12: 105,623,430	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,587,963	N290K	probably benign	Het
Ccdc39	T	C	3: 33,825,169		probably null	Het
Cnot10	T	C	9: 114,613,637	S501G	probably benign	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Coq2	A	C	5: 100,660,250	C228W	probably damaging	Het
Cpt2	A	T	4: 107,906,974	M531K	possibly damaging	Het
Dennd1a	A	G	2: 38,021,363	L204P	probably damaging	Het
Dirc2	T	A	16: 35,734,068		probably null	Het
Dock9	C	T	14: 121,597,663	V1305M	probably benign	Het
Dusp16	A	G	6: 134,725,925	I201T	probably damaging	Het
Fbxl4	T	C	4: 22,377,037	S158P	probably damaging	Het
Fut10	A	G	8: 31,236,204	H329R	possibly damaging	Het
Gm10436	T	C	12: 88,176,258	T392A	probably damaging	Het
Gpr3	A	G	4: 133,211,329	W11R	probably damaging	Het
H2-M3	T	A	17: 37,270,729	I94N	probably damaging	Het
Krt7	T	C	15: 101,412,643	I57T	probably damaging	Het
Ltc4s	T	C	11: 50,238,546		probably benign	Het
Ms4a6b	A	T	19: 11,523,940	T105S	probably damaging	Het
Muc6	T	C	7: 141,648,658	H592R	probably benign	Het
Ncam1	T	C	9: 49,565,003	E262G	probably benign	Het
Olfr1265	T	A	2: 90,037,747	I276K	possibly damaging	Het
Olfr1462	T	C	19: 13,191,573	V302A	probably benign	Het
Plxnb1	T	A	9: 109,114,412	S1908T	probably damaging	Het
Polg2	A	T	11: 106,775,593	M242K	probably benign	Het
Polr3g	T	C	13: 81,694,444	T151A	unknown	Het
Psmb8	T	C	17: 34,200,212	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,681,391	A176V	possibly damaging	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rufy3	A	G	5: 88,640,617	T506A	probably benign	Het
Samd11	T	C	4: 156,255,183		probably benign	Het
Slc12a2	T	C	18: 57,896,378	F279L	possibly damaging	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,295		probably benign	Het
Srgn	C	T	10: 62,494,978	W116*	probably null	Het
Svil	A	G	18: 5,099,663	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,235,541	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,242,553	K490M	probably damaging	Het
Tcte1	A	G	17: 45,534,989	N173S	probably benign	Het
Tmco6	C	T	18: 36,735,393	R31W	probably damaging	Het
Ttn	C	A	2: 76,899,681	A5155S	unknown	Het
Tyro3	T	C	2: 119,816,906	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,867,576	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,780,602	L554P	probably damaging	Het
Zfp352	C	T	4: 90,224,777	P385S	probably benign	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
R7116:Esco2	UTSW	14	65826557	missense	probably damaging	1.00
R7572:Esco2	UTSW	14	65831192	missense	probably damaging	0.97
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'- TGCCCAAAACTATGAGCTCC -3'
(R):5'- CTGTCAGTCAGCTCTGGATTTG -3'

Sequencing Primer
(F):5'- CTATGAGCTCCAAAGTACTGGCTAG -3'
(R):5'- GGCACTGAATTTACTCATTGTGTTC -3'

Posted On

2019-10-24