Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4585001:Esco1'

556635

Institutional Source

Beutler Lab

Gene Symbol

Esco1

Ensembl Gene

ENSMUSG00000024293

Gene Name

establishment of sister chromatid cohesion N-acetyltransferase 1

Synonyms

A930014I12Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

PIT4585001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10566602-10610352 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 10594355 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 310 (C310*)

Ref Sequence

ENSEMBL: ENSMUSP00000025142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025142] [ENSMUST00000097670] [ENSMUST00000115864]

Predicted Effect

probably null
Transcript: ENSMUST00000025142
AA Change: C310*

SMART Domains

Protein: ENSMUSP00000025142
Gene: ENSMUSG00000024293
AA Change: C310*

Domain	Start	End	E-Value	Type
coiled coil region	8	32	N/A	INTRINSIC
low complexity region	117	128	N/A	INTRINSIC
low complexity region	322	338	N/A	INTRINSIC
low complexity region	463	477	N/A	INTRINSIC
Pfam:zf-C2H2_3	607	646	4.7e-17	PFAM
Pfam:Acetyltransf_13	766	834	1.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097670

SMART Domains

Protein: ENSMUSP00000095274
Gene: ENSMUSG00000024293

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_3	108	148	1.7e-19	PFAM
Pfam:Acetyltransf_13	266	335	4.6e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115864

SMART Domains

Protein: ENSMUSP00000111530
Gene: ENSMUSG00000024293

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_3	83	123	1.8e-19	PFAM
Pfam:Acetyltransf_13	241	310	4.1e-35	PFAM

Coding Region Coverage

1x: 93.6%
3x: 91.2%
10x: 86.5%
20x: 76.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurka	T	C	2: 172,357,197	M318V	probably benign	Het
Cacna2d1	T	A	5: 16,326,344	D560E	probably damaging	Het
Ccdc148	T	A	2: 58,982,976	T202S	probably benign	Het
Ccdc155	C	T	7: 45,200,271	G76D	probably benign	Het
Cdc42bpb	T	C	12: 111,304,978	D1149G	probably damaging	Het
Clasp1	T	A	1: 118,462,555	N156K	probably damaging	Het
Cox18	G	A	5: 90,217,575	T255I	possibly damaging	Het
Cse1l	A	G	2: 166,941,474	T783A	probably damaging	Het
Dnajc16	T	C	4: 141,764,685	Y609C	probably damaging	Het
Doc2g	A	G	19: 4,006,630	T339A	probably benign	Het
Eif5a	T	C	11: 69,918,070		probably benign	Het
Epha3	A	G	16: 63,566,577		probably null	Het
Fam208b	G	A	13: 3,574,979	A1657V	possibly damaging	Het
Fam222a	A	G	5: 114,611,040	Y99C	probably damaging	Het
Fzd2	T	C	11: 102,605,747	L339P	probably damaging	Het
Gfral	A	T	9: 76,197,294	N145K	probably damaging	Het
Gga1	T	A	15: 78,893,790	N618K	probably benign	Het
Gpatch3	T	A	4: 133,583,086	H447Q	probably damaging	Het
Gpn1	A	T	5: 31,509,403	R346*	probably null	Het
Gsg1	T	C	6: 135,237,560	E317G	probably benign	Het
Gsk3b	A	G	16: 38,184,454	N129S	probably damaging	Het
Hmg20b	G	T	10: 81,348,955	D94E	possibly damaging	Het
Klhdc9	T	A	1: 171,359,818	H204L	possibly damaging	Het
Klhl24	A	G	16: 20,106,888	I55M	probably benign	Het
Kmt2c	T	C	5: 25,315,106	D2002G	probably benign	Het
Lama4	A	G	10: 39,074,746	N1015S	probably damaging	Het
Lpp	T	C	16: 24,761,947	C263R	probably benign	Het
Lrp1b	T	C	2: 41,269,204	I1689V		Het
Mipep	C	A	14: 60,784,835	Q50K	probably benign	Het
Mx1	T	C	16: 97,456,254	D101G	probably benign	Het
Nabp2	C	G	10: 128,408,807	E37Q	possibly damaging	Het
Nme6	A	G	9: 109,842,036	I115V	possibly damaging	Het
Nup93	A	T	8: 94,243,727	T85S	probably benign	Het
Oit3	T	A	10: 59,431,013	I224F	possibly damaging	Het
Parp14	T	C	16: 35,858,605	K331R	probably benign	Het
Pls1	T	A	9: 95,761,390	T519S	probably benign	Het
Rcn3	A	G	7: 45,086,694	F197L	probably benign	Het
Rnf213	C	T	11: 119,458,392	T3773I		Het
Rprd1b	A	T	2: 158,047,957	I153L	probably benign	Het
Scel	A	G	14: 103,592,368	D462G	possibly damaging	Het
Sh3bp1	C	T	15: 78,910,076	S548L	possibly damaging	Het
Sim1	T	A	10: 50,984,188	Y715*	probably null	Het
Slc18a2	A	T	19: 59,293,861	Q500L	possibly damaging	Het
Slc5a8	T	G	10: 88,886,503	M66R	probably damaging	Het
Slco1a6	T	C	6: 142,109,520	T233A	probably damaging	Het
Smu1	T	C	4: 40,739,623	T396A	probably benign	Het
Tas2r104	T	C	6: 131,685,558	T63A	possibly damaging	Het
Top2a	C	T	11: 99,001,373	A1088T	probably benign	Het
Ucp1	T	C	8: 83,293,948	F129S	probably damaging	Het
Unc13b	T	A	4: 43,091,298	D41E	probably benign	Het
Usp10	T	G	8: 119,954,892	V696G	probably benign	Het
Xylt2	C	T	11: 94,666,240	V745M	probably damaging	Het
Zbtb49	A	T	5: 38,216,476	N41K	probably damaging	Het
Zfp109	T	A	7: 24,229,354	D218V	probably benign	Het
Zfp420	G	A	7: 29,876,005	R550Q	probably benign	Het

Other mutations in Esco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Esco1	APN	18	10582078	missense	probably damaging	1.00
IGL01376:Esco1	APN	18	10594892	nonsense	probably null
IGL01886:Esco1	APN	18	10595262	missense	probably damaging	1.00
IGL03171:Esco1	APN	18	10594263	missense	probably damaging	1.00
IGL03233:Esco1	APN	18	10574877	missense	probably damaging	1.00
PIT4576001:Esco1	UTSW	18	10572093	missense	probably damaging	1.00
R0266:Esco1	UTSW	18	10594605	missense	probably benign	0.00
R0445:Esco1	UTSW	18	10574989	missense	probably damaging	1.00
R0494:Esco1	UTSW	18	10594940	missense	probably benign	0.28
R0965:Esco1	UTSW	18	10567570	missense	probably damaging	1.00
R1834:Esco1	UTSW	18	10594350	missense	probably damaging	1.00
R2140:Esco1	UTSW	18	10574873	critical splice donor site	probably null
R2141:Esco1	UTSW	18	10574873	critical splice donor site	probably null
R2142:Esco1	UTSW	18	10574873	critical splice donor site	probably null
R4562:Esco1	UTSW	18	10595074	missense	possibly damaging	0.74
R4668:Esco1	UTSW	18	10594734	missense	possibly damaging	0.60
R5083:Esco1	UTSW	18	10594734	missense	probably benign	0.00
R5128:Esco1	UTSW	18	10567468	utr 3 prime	probably benign
R5407:Esco1	UTSW	18	10574886	missense	probably damaging	1.00
R5454:Esco1	UTSW	18	10584327	missense	probably benign
R5870:Esco1	UTSW	18	10593744	critical splice donor site	probably null
R5965:Esco1	UTSW	18	10593867	missense	possibly damaging	0.94
R6360:Esco1	UTSW	18	10574931	missense	probably damaging	1.00
R6390:Esco1	UTSW	18	10567528	missense	probably damaging	1.00
R6438:Esco1	UTSW	18	10572031	missense	probably damaging	1.00
R6524:Esco1	UTSW	18	10582188	critical splice acceptor site	probably null
R6534:Esco1	UTSW	18	10594794	missense	possibly damaging	0.90
R6633:Esco1	UTSW	18	10595738	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTACTGGGAAAGAACCGATTAG -3'
(R):5'- AAACCTGTGCCTGTAACTGC -3'

Sequencing Primer
(F):5'- ATTAGAGCGCACATCCTGG -3'
(R):5'- CCTGTGCCTGTAACTGCTGATATTAG -3'

Posted On

2019-06-07